Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4696001:Fat4'

556773

Institutional Source

Beutler Lab

Gene Symbol

Fat4

Ensembl Gene

ENSMUSG00000046743

Gene Name

FAT atypical cadherin 4

Synonyms

6030410K14Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

PIT4696001 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

38886940-39011985 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 38982357 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 3386 (A3386E)

Ref Sequence

ENSEMBL: ENSMUSP00000061836 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000061260
AA Change: A3386E

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000061836
Gene: ENSMUSG00000046743
AA Change: A3386E

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

Coding Region Coverage

1x: 93.5%
3x: 91.0%
10x: 86.2%
20x: 75.9%

Validation Efficiency

100% (57/57)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm3	G	A	7: 119,784,986		probably null	Het
Adam20	T	A	8: 40,794,948	Y32N	probably benign	Het
Adm	T	C	7: 110,628,289	V4A	probably benign	Het
Anpep	G	A	7: 79,839,464	T320I	possibly damaging	Het
Atp8b1	T	C	18: 64,539,270	S1008G	possibly damaging	Het
B9d1	T	A	11: 61,505,243	M12K	possibly damaging	Het
Cad	T	C	5: 31,072,094	L1435P	probably damaging	Het
Cat	T	C	2: 103,471,812	D180G	probably damaging	Het
Cntln	C	T	4: 84,974,000	T374M	probably damaging	Het
Cyp2a5	G	A	7: 26,840,979	R339Q	probably benign	Het
Defa22	T	C	8: 21,162,336	L6P	probably damaging	Het
Dr1	T	A	5: 108,269,738	I50K	probably damaging	Het
Eln	C	T	5: 134,737,178	G57E	unknown	Het
Fcgr3	T	A	1: 171,057,750	Y102F	probably damaging	Het
Gm5930	A	T	14: 44,336,536	L115M	probably damaging	Het
Herc1	T	A	9: 66,479,009	V3748D	probably damaging	Het
Ino80d	A	G	1: 63,085,986	S106P	probably benign	Het
Kcns3	C	T	12: 11,092,748		probably benign	Het
Kndc1	T	A	7: 139,932,917	L1527Q	probably damaging	Het
Lepr	T	G	4: 101,779,983	S690A	probably benign	Het
Lrfn5	T	C	12: 61,843,557	F544S	probably damaging	Het
Mapkap1	C	A	2: 34,619,849	H450Q	probably damaging	Het
Mdm1	A	G	10: 118,158,540	T485A	probably benign	Het
Megf10	T	C	18: 57,277,688	C690R	probably damaging	Het
Myo7a	A	G	7: 98,063,599	M1723T	probably benign	Het
Nrip3	A	T	7: 109,765,507	C137*	probably null	Het
Olfr153	T	A	2: 87,532,780	I249N	probably damaging	Het
Pde4a	T	A	9: 21,211,001	M731K	probably benign	Het
Pebp1	A	G	5: 117,283,462	L117P	probably damaging	Het
Phc2	T	C	4: 128,705,202	Y51H	probably damaging	Het
Ppp2r5b	A	G	19: 6,234,683	F50S	probably benign	Het
Prpf4b	A	G	13: 34,899,842	S865G	probably benign	Het
Ptpn5	C	T	7: 47,088,606	V243M	probably benign	Het
Rora	T	C	9: 69,364,559	L273P	possibly damaging	Het
Rtp4	T	A	16: 23,613,454	S245R	probably benign	Het
Scgb2b20	C	T	7: 33,364,560	G95D	probably benign	Het
Sec24b	A	G	3: 129,994,391	V820A	probably benign	Het
Sim2	A	G	16: 94,094,309	D62G	possibly damaging	Het
Slc17a4	A	T	13: 23,900,514	V429D	probably benign	Het
Sp2	T	C	11: 96,961,973	T42A	probably damaging	Het
Spata3	G	A	1: 86,024,447	R141Q	unknown	Het
Sptbn2	A	T	19: 4,745,577	E1658D	probably benign	Het
Tcaf1	T	C	6: 42,678,539	H501R	probably benign	Het
Tec	G	A	5: 72,773,835	T262M	possibly damaging	Het
Timm9	A	T	12: 71,125,531	N22K	possibly damaging	Het
Tln1	C	T	4: 43,542,701		probably null	Het
Tmbim4	A	G	10: 120,217,624	I109M	probably benign	Het
Tmc7	T	C	7: 118,564,343	K110E	probably benign	Het
Tmem107	C	T	11: 69,072,573	P136L	probably benign	Het
Ttc21b	T	C	2: 66,231,219		probably null	Het
Ubd	A	C	17: 37,195,444	T74P	probably damaging	Het
Vps11	A	G	9: 44,358,189	V255A	possibly damaging	Het
Vsnl1	T	C	12: 11,326,447	T146A	probably benign	Het
Wdr38	G	T	2: 38,999,972		probably null	Het
Yes1	T	A	5: 32,684,625	S498T	possibly damaging	Het
Zc3h13	G	A	14: 75,331,883	R1390H	probably damaging	Het
Zscan4b	A	G	7: 10,902,022	V126A	possibly damaging	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
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
R4959:Fat4	UTSW	3	38983046	missense	probably benign	0.00
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'- AGTGTTTGCCAGTGACAGG -3'
(R):5'- GGCACCATTTTCATTCCCGG -3'

Sequencing Primer
(F):5'- TTTGCCAGTGACAGGGACATG -3'
(R):5'- TTCCCGGACCCAATGAAGTATGAG -3'

Posted On

2019-06-07