Mutagenetix > Incidental Mutation

Incidental Mutation 'R4959:Fat4'

382129

Institutional Source

Beutler Lab

Gene Symbol

Fat4

Ensembl Gene

ENSMUSG00000046743

Gene Name

FAT atypical cadherin 4

Synonyms

6030410K14Rik

MMRRC Submission

042556-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4959 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

38886940-39011985 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 38983046 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 3616 (S3616A)

Ref Sequence

ENSEMBL: ENSMUSP00000061836 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061260]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000061260
AA Change: S3616A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000061836
Gene: ENSMUSG00000046743
AA Change: S3616A

Domain	Start	End	E-Value	Type
low complexity region	2	21	N/A	INTRINSIC
CA	60	133	4.09e-7	SMART
CA	157	248	4.51e-18	SMART
CA	272	351	7.66e-30	SMART
CA	380	473	2.55e-17	SMART
CA	497	580	8.27e-26	SMART
CA	605	687	6.46e-28	SMART
CA	711	791	1e-24	SMART
CA	815	891	3.78e-20	SMART
CA	915	994	8.6e-24	SMART
CA	1018	1098	7.09e-25	SMART
CA	1122	1208	6.78e-22	SMART
CA	1232	1313	2.63e-28	SMART
CA	1337	1418	7.25e-31	SMART
CA	1442	1527	4.58e-19	SMART
CA	1550	1629	4.52e-9	SMART
CA	1651	1738	1.3e-9	SMART
CA	1762	1839	2.01e-24	SMART
CA	1863	1942	3.11e-21	SMART
CA	1966	2049	5.85e-26	SMART
CA	2072	2152	1.88e-29	SMART
CA	2176	2257	3.06e-29	SMART
CA	2282	2362	2.61e-23	SMART
CA	2386	2466	2.99e-32	SMART
CA	2490	2568	9.92e-6	SMART
CA	2588	2669	6.58e-20	SMART
CA	2692	2773	7.25e-31	SMART
CA	2796	2872	1.69e-22	SMART
CA	2896	2983	3.16e-22	SMART
CA	3007	3089	1.01e-15	SMART
CA	3113	3194	1.25e-25	SMART
CA	3218	3298	7e-15	SMART
CA	3322	3405	3.96e-14	SMART
CA	3428	3510	3.41e-27	SMART
CA	3532	3614	5.64e-19	SMART
EGF	3807	3862	1.78e-2	SMART
EGF_CA	3864	3900	2.36e-16	SMART
EGF_CA	3902	3938	7.99e-14	SMART
EGF	3943	3976	1.24e-1	SMART
LamG	3996	4144	4.08e-19	SMART
EGF	4167	4200	5.88e-3	SMART
LamG	4244	4375	1.76e-23	SMART
EGF	4430	4464	1.41e-5	SMART
low complexity region	4514	4526	N/A	INTRINSIC
low complexity region	4533	4550	N/A	INTRINSIC
low complexity region	4840	4849	N/A	INTRINSIC

Meta Mutation Damage Score

0.0986

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.6%
20x: 89.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the protocadherin family. This gene may play a role in regulating planar cell polarity (PCP). Studies in mice suggest that loss of PCP signaling may cause cystic kidney disease, and mutations in this gene have been associated with Van Maldergem Syndrome 2. Alternatively spliced transcript variants have been noted for this gene. [provided by RefSeq, Mar 2014]
PHENOTYPE: Homozygous inactivation of this gene leads to neonatal lethality, reduced birth body size, curly tails, kyphosis, small lungs, renal cysts, and defects in sternum and vertebrae morphology, neural tube width, cochlear elongation, stereocilia orientation, kidney development, and intestinal elongation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,164,546	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,164,547	E685V	possibly damaging	Het
6820408C15Rik	T	A	2: 152,440,888	I221K	possibly damaging	Het
Aadacl3	A	T	4: 144,457,086	C136S	probably benign	Het
Abhd16a	T	A	17: 35,102,342	S498T	probably benign	Het
Acrv1	G	A	9: 36,694,700		probably null	Het
Adamts18	G	A	8: 113,736,725	R830*	probably null	Het
Art3	A	G	5: 92,403,619	Y279C	probably damaging	Het
Atm	A	T	9: 53,515,301	D552E	probably benign	Het
Ccdc154	T	C	17: 25,170,914	L508P	probably damaging	Het
Ccser2	A	T	14: 36,940,796	S144T	probably benign	Het
Cgn	C	T	3: 94,778,254	A320T	probably benign	Het
Cklf	A	G	8: 104,261,552	K106E	probably benign	Het
Clec12a	C	A	6: 129,353,665	T70K	probably benign	Het
CN725425	G	A	15: 91,245,701	A256T	possibly damaging	Het
Crb2	G	T	2: 37,790,470	R470L	probably damaging	Het
Csn1s1	T	G	5: 87,673,261	S33A	probably benign	Het
D3Ertd254e	C	T	3: 36,164,136	R102C	possibly damaging	Het
D630045J12Rik	C	T	6: 38,148,367	V1571M	possibly damaging	Het
Deup1	G	A	9: 15,612,014	Q58*	probably null	Het
Dph2	T	A	4: 117,891,330	D82V	probably damaging	Het
Dsp	C	T	13: 38,191,710	A1157V	probably benign	Het
Evi5l	G	T	8: 4,205,406	V477L	probably benign	Het
Fam187b	T	A	7: 30,982,262	H131Q	probably damaging	Het
Fam193b	A	G	13: 55,543,284	I259T	probably damaging	Het
Fam91a1	A	G	15: 58,431,210	T323A	probably benign	Het
Fbxo38	A	T	18: 62,522,507	N369K	probably benign	Het
Fitm1	T	A	14: 55,576,374		probably null	Het
Fkbp5	T	C	17: 28,428,369	E164G	probably damaging	Het
Fpr-rs3	T	C	17: 20,623,949	Y310C	possibly damaging	Het
Fryl	A	T	5: 73,035,058	M2678K	probably benign	Het
Fsip2	T	C	2: 82,984,825	I3634T	probably benign	Het
Gm3233	T	C	10: 77,759,565		probably benign	Het
Gzmd	T	G	14: 56,132,498	T9P	unknown	Het
Htr2b	A	T	1: 86,100,091	I231N	probably damaging	Het
Il2ra	A	G	2: 11,676,853	T90A	possibly damaging	Het
Kbtbd2	A	G	6: 56,781,958	F60S	probably benign	Het
Kif21b	G	A	1: 136,148,370	C299Y	possibly damaging	Het
Lsm5	A	T	6: 56,703,324	D44E	probably damaging	Het
Mapk1	T	A	16: 17,018,306	M106K	probably damaging	Het
Mpp2	A	G	11: 102,063,291	V193A	probably damaging	Het
Muc4	T	C	16: 32,754,319	S1398P	possibly damaging	Het
Ndufs2	A	G	1: 171,238,009	Y282H	probably damaging	Het
Nes	T	A	3: 87,975,676	L414Q	probably damaging	Het
Neurl2	T	A	2: 164,833,202		probably null	Het
Ngef	A	G	1: 87,503,348	F159S	possibly damaging	Het
Nlrx1	T	C	9: 44,254,151	H816R	possibly damaging	Het
Olfr1178	T	A	2: 88,391,330	L28I	probably benign	Het
Olfr1204	T	C	2: 88,852,172	V74A	possibly damaging	Het
Olfr1293-ps	T	A	2: 111,527,624	F103L	probably damaging	Het
Olfr1417	A	G	19: 11,828,936	L30P	probably benign	Het
Olfr381	A	T	11: 73,486,067	Y252*	probably null	Het
Olfr453	T	C	6: 42,744,687	S217P	probably damaging	Het
Olfr855	A	G	9: 19,585,208	T224A	probably benign	Het
Pcgf2	A	T	11: 97,691,689	Y7N	possibly damaging	Het
Pdlim5	G	A	3: 142,311,979		probably benign	Het
Pdzd2	A	G	15: 12,375,648	V1467A	probably damaging	Het
Pigp	C	A	16: 94,359,147	G134V	probably benign	Het
Pik3c2g	T	C	6: 139,843,931	Y385H	possibly damaging	Het
Pnliprp2	G	A	19: 58,766,318	E265K	probably benign	Het
Prl3c1	G	T	13: 27,202,488		probably null	Het
Ptpn4	A	T	1: 119,765,096	Y110*	probably null	Het
Ptprq	C	T	10: 107,686,555	V546I	probably damaging	Het
Rd3l	C	T	12: 111,980,144		probably null	Het
Rpl37	G	A	15: 5,117,646	R56Q	possibly damaging	Het
Rttn	A	T	18: 89,042,168	H998L	probably damaging	Het
Rufy1	A	T	11: 50,401,488	F491L	probably benign	Het
Simc1	T	G	13: 54,525,318	V493G	possibly damaging	Het
Slc22a14	CTTTCCTGAA	C	9: 119,174,035		probably benign	Het
Slc25a46	A	T	18: 31,602,754	I144N	possibly damaging	Het
Smtn	A	T	11: 3,527,825	M1K	probably null	Het
Snd1	C	A	6: 28,884,251	Y766*	probably null	Het
Spata31d1d	C	T	13: 59,727,288	G811D	probably damaging	Het
Spta1	A	C	1: 174,246,608	D2371A	probably damaging	Het
Stard6	A	C	18: 70,498,560	D74A	possibly damaging	Het
Stim2	G	T	5: 54,105,370	R318L	probably benign	Het
Sufu	C	T	19: 46,475,552	T401I	possibly damaging	Het
Suz12	G	A	11: 80,029,231	G539D	probably damaging	Het
Sytl2	C	G	7: 90,376,037	S411C	probably damaging	Het
Taf6	G	A	5: 138,183,203	Q156*	probably null	Het
Tead4	T	C	6: 128,270,987	D29G	probably damaging	Het
Thada	T	C	17: 84,444,183	Y455C	probably damaging	Het
Tlr6	G	C	5: 64,953,659	T635S	possibly damaging	Het
Tlr9	A	G	9: 106,224,677	D389G	probably benign	Het
Tmem54	A	T	4: 129,108,280	H40L	probably damaging	Het
Trappc9	G	T	15: 72,937,056	N540K	probably damaging	Het
Trbv29	C	T	6: 41,271,854	S106F	probably damaging	Het
Trrap	A	T	5: 144,856,960	H3384L	probably damaging	Het
Usp16	T	A	16: 87,480,914	M684K	probably damaging	Het
Vat1	G	A	11: 101,460,600	T305M	probably damaging	Het
Vmn2r85	A	G	10: 130,421,433	S544P	probably damaging	Het
Vps8	T	C	16: 21,459,786	S267P	probably damaging	Het
Ylpm1	T	A	12: 85,049,945	V1242E	probably damaging	Het
Zfp322a	T	C	13: 23,356,882	Y230C	probably damaging	Het
Zfp352	T	A	4: 90,224,139	V172E	probably benign	Het
Zfp936	A	T	7: 43,189,610	H167L	probably damaging	Het
Zkscan14	A	G	5: 145,195,492	Y410H	probably benign	Het
Zkscan17	A	G	11: 59,503,712	M21T	probably damaging	Het
Zswim4	G	T	8: 84,212,223	A1010D	probably benign	Het

Other mutations in Fat4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00235:Fat4	APN	3	38982249	missense	probably damaging	1.00
IGL00509:Fat4	APN	3	38889039	missense	probably damaging	1.00
IGL00698:Fat4	APN	3	38981145	missense	probably benign	0.17
IGL00934:Fat4	APN	3	38890673	missense	probably damaging	1.00
IGL01063:Fat4	APN	3	38890579	missense	possibly damaging	0.80
IGL01123:Fat4	APN	3	38957269	missense	probably benign	0.00
IGL01313:Fat4	APN	3	39007201	missense	possibly damaging	0.53
IGL01328:Fat4	APN	3	38980658	missense	probably damaging	1.00
IGL01328:Fat4	APN	3	38889991	missense	probably damaging	1.00
IGL01374:Fat4	APN	3	38887498	missense	probably damaging	1.00
IGL01412:Fat4	APN	3	38891181	missense	probably benign	0.09
IGL01472:Fat4	APN	3	38888070	missense	probably damaging	1.00
IGL01514:Fat4	APN	3	38949534	missense	possibly damaging	0.89
IGL01548:Fat4	APN	3	39009257	missense	probably damaging	1.00
IGL01548:Fat4	APN	3	38887758	missense	probably damaging	0.99
IGL01576:Fat4	APN	3	38888947	missense	probably damaging	1.00
IGL01591:Fat4	APN	3	39010375	nonsense	probably null
IGL01626:Fat4	APN	3	38951032	missense	probably damaging	1.00
IGL01746:Fat4	APN	3	38991731	nonsense	probably null
IGL01800:Fat4	APN	3	38981729	missense	probably damaging	0.99
IGL01815:Fat4	APN	3	38888773	missense	probably damaging	1.00
IGL01863:Fat4	APN	3	38970619	splice site	probably benign
IGL01917:Fat4	APN	3	38889730	missense	possibly damaging	0.89
IGL01936:Fat4	APN	3	38979774	missense	probably benign	0.10
IGL02060:Fat4	APN	3	39010271	missense	probably damaging	1.00
IGL02103:Fat4	APN	3	38889199	missense	probably damaging	0.97
IGL02119:Fat4	APN	3	38982939	missense	probably benign	0.10
IGL02124:Fat4	APN	3	38888404	missense	probably damaging	1.00
IGL02164:Fat4	APN	3	38996205	critical splice donor site	probably null
IGL02182:Fat4	APN	3	38890546	missense	probably damaging	1.00
IGL02207:Fat4	APN	3	38951263	missense	probably benign	0.16
IGL02210:Fat4	APN	3	38891853	missense	probably benign	0.01
IGL02257:Fat4	APN	3	39001139	missense	probably benign	0.09
IGL02271:Fat4	APN	3	38979919	missense	probably benign	0.18
IGL02305:Fat4	APN	3	39009988	missense	probably damaging	1.00
IGL02314:Fat4	APN	3	38887630	missense	probably damaging	1.00
IGL02455:Fat4	APN	3	38951131	missense	possibly damaging	0.48
IGL02468:Fat4	APN	3	38983046	missense	probably benign
IGL02478:Fat4	APN	3	38888215	missense	probably damaging	1.00
IGL02480:Fat4	APN	3	39010430	missense	probably damaging	1.00
IGL02487:Fat4	APN	3	38887245	missense	probably damaging	1.00
IGL02632:Fat4	APN	3	39002764	missense	probably benign	0.04
IGL02665:Fat4	APN	3	39002836	missense	probably benign	0.08
IGL02674:Fat4	APN	3	38983337	missense	probably benign	0.35
IGL02692:Fat4	APN	3	38951086	missense	probably damaging	1.00
IGL02710:Fat4	APN	3	38890595	missense	probably damaging	1.00
IGL02803:Fat4	APN	3	38889295	missense	probably damaging	1.00
IGL02834:Fat4	APN	3	38956744	missense	probably damaging	1.00
IGL02891:Fat4	APN	3	38951273	missense	probably damaging	1.00
IGL02982:Fat4	APN	3	38890843	missense	probably damaging	1.00
IGL02993:Fat4	APN	3	38957155	missense	probably damaging	1.00
IGL02996:Fat4	APN	3	38958525	missense	probably damaging	1.00
IGL03029:Fat4	APN	3	38982591	missense	possibly damaging	0.46
IGL03124:Fat4	APN	3	38981552	missense	possibly damaging	0.61
IGL03144:Fat4	APN	3	38956859	missense	possibly damaging	0.68
IGL03149:Fat4	APN	3	38991685	missense	probably damaging	1.00
IGL03169:Fat4	APN	3	38957398	missense	probably benign	0.02
IGL03190:Fat4	APN	3	38981241	missense	probably damaging	1.00
IGL03272:Fat4	APN	3	39009703	missense	probably benign
IGL03371:Fat4	APN	3	38983187	missense	possibly damaging	0.65
IGL03372:Fat4	APN	3	38889134	missense	possibly damaging	0.88
IGL03388:Fat4	APN	3	38957227	missense	probably damaging	1.00
IGL03394:Fat4	APN	3	38892019	missense	probably damaging	0.99
IGL03394:Fat4	APN	3	39009364	missense	probably damaging	1.00
IGL03405:Fat4	APN	3	38958450	missense	probably benign	0.02
IGL03410:Fat4	APN	3	38891176	missense	probably damaging	1.00
Asahi	UTSW	3	38981819	missense	probably damaging	1.00
Expulsion	UTSW	3	38889649	missense	probably benign	0.00
heineken	UTSW	3	38980380	missense	probably damaging	1.00
schlitz	UTSW	3	38980659	missense	probably damaging	1.00
PIT4696001:Fat4	UTSW	3	38889004	missense	probably benign	0.04
PIT4696001:Fat4	UTSW	3	38982357	missense	probably damaging	0.98
R0015:Fat4	UTSW	3	38982503	missense	probably damaging	1.00
R0015:Fat4	UTSW	3	38982503	missense	probably damaging	1.00
R0078:Fat4	UTSW	3	38888931	missense	probably benign	0.35
R0100:Fat4	UTSW	3	38980248	missense	probably damaging	1.00
R0100:Fat4	UTSW	3	38980248	missense	probably damaging	1.00
R0201:Fat4	UTSW	3	38891596	missense	probably damaging	0.99
R0280:Fat4	UTSW	3	38890816	missense	probably benign
R0357:Fat4	UTSW	3	38891227	missense	probably damaging	1.00
R0409:Fat4	UTSW	3	38977413	missense	probably damaging	1.00
R0498:Fat4	UTSW	3	38980637	missense	probably benign	0.00
R0502:Fat4	UTSW	3	39002924	missense	probably damaging	0.98
R0506:Fat4	UTSW	3	38888314	missense	probably benign	0.00
R0532:Fat4	UTSW	3	38981721	missense	probably benign	0.02
R0616:Fat4	UTSW	3	38942870	missense	probably damaging	1.00
R0630:Fat4	UTSW	3	39000172	missense	probably damaging	1.00
R0678:Fat4	UTSW	3	38889694	missense	probably damaging	1.00
R0685:Fat4	UTSW	3	39001178	missense	probably benign
R0729:Fat4	UTSW	3	39000295	splice site	probably benign
R0748:Fat4	UTSW	3	38887828	missense	possibly damaging	0.67
R0811:Fat4	UTSW	3	38957474	missense	probably damaging	1.00
R0812:Fat4	UTSW	3	38957474	missense	probably damaging	1.00
R0830:Fat4	UTSW	3	38999109	missense	probably benign	0.26
R0841:Fat4	UTSW	3	38995998	missense	probably damaging	0.99
R0884:Fat4	UTSW	3	38982858	missense	possibly damaging	0.89
R1056:Fat4	UTSW	3	38891392	missense	probably damaging	1.00
R1066:Fat4	UTSW	3	38957227	missense	probably damaging	1.00
R1078:Fat4	UTSW	3	38983086	missense	probably benign	0.10
R1084:Fat4	UTSW	3	38979825	missense	possibly damaging	0.88
R1118:Fat4	UTSW	3	38982942	missense	possibly damaging	0.88
R1213:Fat4	UTSW	3	38890371	missense	probably benign	0.01
R1418:Fat4	UTSW	3	38890813	missense	probably damaging	1.00
R1475:Fat4	UTSW	3	38888323	missense	probably damaging	1.00
R1487:Fat4	UTSW	3	38995917	missense	possibly damaging	0.77
R1511:Fat4	UTSW	3	38983076	missense	probably damaging	0.97
R1534:Fat4	UTSW	3	38890089	missense	probably damaging	1.00
R1558:Fat4	UTSW	3	38888986	missense	probably damaging	1.00
R1586:Fat4	UTSW	3	38888860	missense	probably damaging	1.00
R1592:Fat4	UTSW	3	39007177	missense	probably damaging	0.99
R1655:Fat4	UTSW	3	38957318	missense	probably damaging	0.97
R1662:Fat4	UTSW	3	38980779	missense	probably damaging	1.00
R1710:Fat4	UTSW	3	38951155	missense	probably damaging	1.00
R1731:Fat4	UTSW	3	38891310	missense	probably damaging	1.00
R1761:Fat4	UTSW	3	38887489	missense	possibly damaging	0.61
R1770:Fat4	UTSW	3	39010268	missense	probably damaging	1.00
R1828:Fat4	UTSW	3	38983458	missense	probably damaging	1.00
R1835:Fat4	UTSW	3	38983571	missense	probably benign	0.00
R1846:Fat4	UTSW	3	38982383	missense	probably benign	0.00
R1861:Fat4	UTSW	3	39010484	missense	probably benign	0.09
R1871:Fat4	UTSW	3	38981072	missense	possibly damaging	0.63
R1981:Fat4	UTSW	3	38991664	missense	probably damaging	1.00
R1988:Fat4	UTSW	3	38887115	missense	probably benign
R1988:Fat4	UTSW	3	38996090	missense	probably damaging	1.00
R2056:Fat4	UTSW	3	38891170	missense	possibly damaging	0.88
R2058:Fat4	UTSW	3	38891170	missense	possibly damaging	0.88
R2059:Fat4	UTSW	3	38891170	missense	possibly damaging	0.88
R2070:Fat4	UTSW	3	39010655	missense	probably benign	0.00
R2078:Fat4	UTSW	3	38889673	missense	probably damaging	1.00
R2114:Fat4	UTSW	3	38981484	missense	probably benign	0.01
R2135:Fat4	UTSW	3	38980733	missense	probably damaging	0.98
R2152:Fat4	UTSW	3	38983395	missense	probably damaging	1.00
R2153:Fat4	UTSW	3	38983395	missense	probably damaging	1.00
R2154:Fat4	UTSW	3	38887539	missense	probably damaging	1.00
R2196:Fat4	UTSW	3	38981417	missense	probably benign	0.23
R2211:Fat4	UTSW	3	38891527	missense	possibly damaging	0.77
R2219:Fat4	UTSW	3	39010215	missense	probably damaging	1.00
R2247:Fat4	UTSW	3	38892049	missense	probably damaging	1.00
R2263:Fat4	UTSW	3	38888989	missense	possibly damaging	0.93
R2264:Fat4	UTSW	3	38890422	missense	probably benign	0.25
R2274:Fat4	UTSW	3	38995899	missense	possibly damaging	0.47
R2337:Fat4	UTSW	3	38980011	missense	probably damaging	1.00
R2343:Fat4	UTSW	3	38957105	missense	probably damaging	0.97
R2365:Fat4	UTSW	3	38980419	missense	probably benign
R2412:Fat4	UTSW	3	38957072	missense	probably benign	0.05
R2883:Fat4	UTSW	3	38980804	missense	probably damaging	1.00
R2942:Fat4	UTSW	3	38982336	missense	probably damaging	1.00
R2989:Fat4	UTSW	3	39007153	missense	probably benign
R3103:Fat4	UTSW	3	38891940	missense	probably benign	0.03
R3158:Fat4	UTSW	3	38890791	missense	possibly damaging	0.87
R3800:Fat4	UTSW	3	38981274	missense	possibly damaging	0.48
R3808:Fat4	UTSW	3	38982438	missense	possibly damaging	0.52
R3848:Fat4	UTSW	3	39007261	missense	probably benign	0.10
R3850:Fat4	UTSW	3	39007261	missense	probably benign	0.10
R3957:Fat4	UTSW	3	38982346	missense	probably benign
R4065:Fat4	UTSW	3	39009197	missense	probably benign	0.13
R4078:Fat4	UTSW	3	38980020	missense	probably damaging	1.00
R4096:Fat4	UTSW	3	38887875	missense	possibly damaging	0.46
R4161:Fat4	UTSW	3	38942809	missense	possibly damaging	0.95
R4273:Fat4	UTSW	3	38891627	missense	probably damaging	1.00
R4285:Fat4	UTSW	3	38889171	missense	probably benign	0.00
R4288:Fat4	UTSW	3	38891763	missense	probably damaging	1.00
R4407:Fat4	UTSW	3	38958540	missense	probably benign	0.05
R4528:Fat4	UTSW	3	38891294	missense	probably benign	0.01
R4547:Fat4	UTSW	3	38951283	missense	probably damaging	1.00
R4681:Fat4	UTSW	3	38887342	missense	probably damaging	1.00
R4826:Fat4	UTSW	3	38982957	missense	probably damaging	1.00
R4855:Fat4	UTSW	3	38888317	missense	probably benign
R4871:Fat4	UTSW	3	38891605	missense	probably damaging	1.00
R4897:Fat4	UTSW	3	38980632	missense	probably damaging	1.00
R4928:Fat4	UTSW	3	39010465	missense	probably damaging	1.00
R4932:Fat4	UTSW	3	39007203	missense	probably benign	0.00
R4941:Fat4	UTSW	3	38957452	missense	probably damaging	1.00
R4943:Fat4	UTSW	3	38980173	missense	probably benign	0.19
R4973:Fat4	UTSW	3	38983046	missense	probably benign	0.00
R5098:Fat4	UTSW	3	38888289	missense	probably benign	0.34
R5163:Fat4	UTSW	3	38980797	missense	probably damaging	1.00
R5213:Fat4	UTSW	3	38980191	missense	possibly damaging	0.56
R5328:Fat4	UTSW	3	38956868	missense	probably damaging	1.00
R5337:Fat4	UTSW	3	38891627	missense	probably damaging	1.00
R5337:Fat4	UTSW	3	39010378	missense	probably benign	0.44
R5363:Fat4	UTSW	3	38888005	missense	probably damaging	1.00
R5380:Fat4	UTSW	3	38888864	missense	probably damaging	1.00
R5384:Fat4	UTSW	3	38995946	missense	possibly damaging	0.87
R5422:Fat4	UTSW	3	38887245	missense	possibly damaging	0.92
R5436:Fat4	UTSW	3	38891346	missense	probably benign	0.00
R5443:Fat4	UTSW	3	39010370	missense	probably damaging	1.00
R5501:Fat4	UTSW	3	38887215	missense	probably benign	0.09
R5571:Fat4	UTSW	3	39010274	missense	probably damaging	1.00
R5625:Fat4	UTSW	3	38888934	missense	possibly damaging	0.78
R5652:Fat4	UTSW	3	39002968	missense	probably damaging	0.99
R5725:Fat4	UTSW	3	38889625	missense	probably damaging	1.00
R5735:Fat4	UTSW	3	38949576	missense	probably damaging	1.00
R5739:Fat4	UTSW	3	38983134	missense	probably benign	0.01
R5766:Fat4	UTSW	3	38889468	missense	probably damaging	1.00
R5780:Fat4	UTSW	3	38980955	missense	probably damaging	0.96
R5811:Fat4	UTSW	3	38891787	missense	probably damaging	1.00
R5829:Fat4	UTSW	3	39007305	missense	probably damaging	1.00
R5879:Fat4	UTSW	3	38887336	missense	probably benign
R5933:Fat4	UTSW	3	38951375	critical splice donor site	probably null
R5938:Fat4	UTSW	3	38951239	missense	probably damaging	1.00
R5940:Fat4	UTSW	3	38889649	missense	probably benign	0.00
R5945:Fat4	UTSW	3	38983206	missense	probably benign	0.19
R5963:Fat4	UTSW	3	39010547	missense	probably damaging	1.00
R6077:Fat4	UTSW	3	39002802	missense	probably damaging	1.00
R6158:Fat4	UTSW	3	38983262	missense	possibly damaging	0.95
R6246:Fat4	UTSW	3	38891721	missense	probably damaging	1.00
R6253:Fat4	UTSW	3	38951356	missense	probably damaging	0.99
R6259:Fat4	UTSW	3	39007246	missense	probably benign	0.18
R6295:Fat4	UTSW	3	39007080	splice site	probably null
R6387:Fat4	UTSW	3	38983785	missense	probably damaging	1.00
R6390:Fat4	UTSW	3	38980380	missense	probably damaging	1.00
R6456:Fat4	UTSW	3	38983979	missense	possibly damaging	0.90
R6493:Fat4	UTSW	3	38890887	missense	probably damaging	1.00
R6500:Fat4	UTSW	3	38981269	nonsense	probably null
R6503:Fat4	UTSW	3	38982257	missense	probably benign	0.00
R6519:Fat4	UTSW	3	39002871	missense	probably benign
R6566:Fat4	UTSW	3	38957126	missense	possibly damaging	0.78
R6576:Fat4	UTSW	3	38979690	missense	probably benign
R6590:Fat4	UTSW	3	38983539	missense	probably damaging	1.00
R6658:Fat4	UTSW	3	38942928	missense	probably benign	0.01
R6662:Fat4	UTSW	3	38956821	missense	possibly damaging	0.95
R6690:Fat4	UTSW	3	38983539	missense	probably damaging	1.00
R6807:Fat4	UTSW	3	38982440	missense	probably benign	0.18
R6823:Fat4	UTSW	3	38983939	missense	probably benign	0.05
R6824:Fat4	UTSW	3	38957525	missense	probably benign	0.00
R6830:Fat4	UTSW	3	38981817	missense	probably benign	0.00
R6925:Fat4	UTSW	3	38996204	critical splice donor site	probably null
R6948:Fat4	UTSW	3	39009446	missense	probably damaging	1.00
R6970:Fat4	UTSW	3	38981775	missense	probably damaging	1.00
R6970:Fat4	UTSW	3	38995971	missense	probably damaging	1.00
R7017:Fat4	UTSW	3	38891543	missense	probably benign
R7030:Fat4	UTSW	3	38981958	missense	probably damaging	1.00
R7044:Fat4	UTSW	3	39010810	missense	probably benign
R7044:Fat4	UTSW	3	39010811	missense	probably benign	0.02
R7045:Fat4	UTSW	3	38888601	missense	probably benign	0.01
R7094:Fat4	UTSW	3	38889874	missense	probably damaging	1.00
R7111:Fat4	UTSW	3	39010533	missense	probably damaging	1.00
R7130:Fat4	UTSW	3	38980787	missense	probably damaging	0.99
R7168:Fat4	UTSW	3	38980659	missense	probably damaging	1.00
R7192:Fat4	UTSW	3	38980464	missense	probably benign	0.04
R7194:Fat4	UTSW	3	38888884	missense	probably damaging	1.00
R7194:Fat4	UTSW	3	38983895	missense	probably damaging	1.00
R7199:Fat4	UTSW	3	38977362	missense	probably damaging	0.98
R7213:Fat4	UTSW	3	38999087	missense	possibly damaging	0.63
R7216:Fat4	UTSW	3	38891043	missense	probably damaging	1.00
R7225:Fat4	UTSW	3	38980176	missense	possibly damaging	0.50
R7238:Fat4	UTSW	3	38890413	missense	probably benign	0.31
R7239:Fat4	UTSW	3	38983840	missense	possibly damaging	0.85
R7283:Fat4	UTSW	3	38889693	missense	probably damaging	1.00
R7296:Fat4	UTSW	3	38889145	nonsense	probably null
R7372:Fat4	UTSW	3	38890209	missense	probably damaging	1.00
R7400:Fat4	UTSW	3	38887924	missense	probably damaging	1.00
R7419:Fat4	UTSW	3	39000236	missense	probably damaging	1.00
R7430:Fat4	UTSW	3	38887450	missense	probably damaging	0.97
R7430:Fat4	UTSW	3	39009644	missense	probably damaging	1.00
R7431:Fat4	UTSW	3	39009157	missense	possibly damaging	0.80
R7486:Fat4	UTSW	3	38957427	nonsense	probably null
R7501:Fat4	UTSW	3	38958448	nonsense	probably null
R7533:Fat4	UTSW	3	39007257	missense	probably benign	0.43
R7542:Fat4	UTSW	3	38981355	missense	possibly damaging	0.56
R7542:Fat4	UTSW	3	38981621	missense	possibly damaging	0.64
R7548:Fat4	UTSW	3	38981114	missense	probably benign	0.13
R7567:Fat4	UTSW	3	38889336	missense	probably damaging	1.00
R7644:Fat4	UTSW	3	39010241	missense	possibly damaging	0.64
R7660:Fat4	UTSW	3	38981160	missense	probably benign
R7665:Fat4	UTSW	3	38889178	missense	probably benign	0.00
R7676:Fat4	UTSW	3	38891697	missense	probably damaging	0.98
R7832:Fat4	UTSW	3	39001204	missense	probably benign	0.00
R7848:Fat4	UTSW	3	38887851	missense	probably benign
R7883:Fat4	UTSW	3	38981819	missense	probably damaging	1.00
R7892:Fat4	UTSW	3	38949439	critical splice acceptor site	probably null
R7904:Fat4	UTSW	3	38887541	missense	probably damaging	1.00
R7952:Fat4	UTSW	3	38891721	missense	probably damaging	0.98
R8015:Fat4	UTSW	3	38981916	missense	possibly damaging	0.79
R8040:Fat4	UTSW	3	38981666	missense	probably damaging	1.00
R8142:Fat4	UTSW	3	38891203	missense	probably damaging	1.00
R8151:Fat4	UTSW	3	38892054	missense	probably damaging	0.99
R8163:Fat4	UTSW	3	38979732	missense	possibly damaging	0.88
R8317:Fat4	UTSW	3	38958510	missense	possibly damaging	0.80
R8413:Fat4	UTSW	3	39008979	critical splice acceptor site	probably null
R8447:Fat4	UTSW	3	38979675	missense	possibly damaging	0.88
R8458:Fat4	UTSW	3	38981553	missense	probably benign	0.25
R8509:Fat4	UTSW	3	38981903	missense	probably benign
R8543:Fat4	UTSW	3	38977494	missense	probably damaging	1.00
R8679:Fat4	UTSW	3	39010693	missense	probably damaging	1.00
R8726:Fat4	UTSW	3	39010498	missense	probably damaging	1.00
R8743:Fat4	UTSW	3	38888443	missense	probably benign	0.16
R8751:Fat4	UTSW	3	38891853	missense	probably benign	0.01
R8779:Fat4	UTSW	3	38979749	missense	probably damaging	1.00
R8797:Fat4	UTSW	3	38999129	missense	probably benign	0.01
R8860:Fat4	UTSW	3	38892120	missense	probably benign	0.26
R8955:Fat4	UTSW	3	38983629	missense	probably benign	0.01
R9053:Fat4	UTSW	3	38887175	nonsense	probably null
R9071:Fat4	UTSW	3	38983449	missense	probably benign	0.29
R9088:Fat4	UTSW	3	39007299	missense	probably benign	0.02
R9100:Fat4	UTSW	3	39010654	missense
R9180:Fat4	UTSW	3	38888407	missense	possibly damaging	0.78
R9184:Fat4	UTSW	3	38982443	missense	probably damaging	0.99
R9201:Fat4	UTSW	3	38890930	missense	probably damaging	1.00
R9206:Fat4	UTSW	3	39009241	missense	probably damaging	0.99
R9268:Fat4	UTSW	3	38888247	missense	probably damaging	1.00
R9278:Fat4	UTSW	3	38891022	missense	probably benign	0.44
R9287:Fat4	UTSW	3	38891632	missense	probably damaging	0.98
R9355:Fat4	UTSW	3	38981898	missense	probably damaging	1.00
R9437:Fat4	UTSW	3	38891268	missense	probably benign	0.00
R9455:Fat4	UTSW	3	38891263	missense
R9456:Fat4	UTSW	3	38888422	missense	possibly damaging	0.50
R9476:Fat4	UTSW	3	38983737	missense	probably benign	0.04
R9510:Fat4	UTSW	3	38983737	missense	probably benign	0.04
R9511:Fat4	UTSW	3	38980653	missense	probably damaging	0.98
R9540:Fat4	UTSW	3	39009197	missense	probably benign
R9568:Fat4	UTSW	3	38892007	missense	probably damaging	1.00
R9646:Fat4	UTSW	3	38981664	missense	probably damaging	1.00
R9683:Fat4	UTSW	3	38889183	missense	possibly damaging	0.52
R9711:Fat4	UTSW	3	39001225	missense	probably benign	0.00
X0017:Fat4	UTSW	3	39009106	missense	probably benign	0.00
X0019:Fat4	UTSW	3	38981040	missense	probably damaging	1.00
X0020:Fat4	UTSW	3	39000151	missense	probably damaging	1.00
X0024:Fat4	UTSW	3	38942902	missense	probably benign	0.43
X0064:Fat4	UTSW	3	38970752	missense	probably damaging	1.00
Z1088:Fat4	UTSW	3	38887050	missense	possibly damaging	0.88
Z1088:Fat4	UTSW	3	38958492	missense	probably benign	0.00
Z1176:Fat4	UTSW	3	38983359	missense	probably benign	0.00
Z1176:Fat4	UTSW	3	38983815	missense	probably damaging	1.00
Z1177:Fat4	UTSW	3	38888584	missense	probably damaging	1.00
Z1177:Fat4	UTSW	3	38890347	missense	probably damaging	1.00
Z1177:Fat4	UTSW	3	38981838	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTATTACCTGCTGAGCACAGG -3'
(R):5'- CAGATCAAAGGTGCCATCTGTG -3'

Sequencing Primer
(F):5'- AGGCCCCGCTACTAATTATTTCAG -3'
(R):5'- GATCTGGGCTGGGAACTCAG -3'

Posted On

2016-04-27