Mutagenetix > Incidental Mutation

Incidental Mutation 'R7419:Fat4'

575510

Institutional Source

Beutler Lab

Gene Symbol

Fat4

Ensembl Gene

ENSMUSG00000046743

Gene Name

FAT atypical cadherin 4

Synonyms

6030410K14Rik

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7419 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

38886940-39011985 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 39000236 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 4142 (N4142K)

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: N4142K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000061836
Gene: ENSMUSG00000046743
AA Change: N4142K

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

0.6614

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

99% (93/94)

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,276,959	S572P	probably damaging	Het
Abca13	T	C	11: 9,297,833	Y2527H	probably damaging	Het
Abcc5	A	G	16: 20,422,423	I4T	possibly damaging	Het
Adamts12	C	T	15: 11,317,279	T1355I	probably benign	Het
Aloxe3	A	G	11: 69,127,527	T117A	probably benign	Het
Asb15	A	G	6: 24,556,556	I17V	probably benign	Het
Atf2	A	G	2: 73,842,433	V194A	probably benign	Het
Capn7	T	C	14: 31,349,822	V221A	probably benign	Het
Ccdc107	A	T	4: 43,493,512	S28C	probably benign	Het
Cct4	C	T	11: 22,996,420	T162I	probably benign	Het
Cdc40	A	T	10: 40,841,443	H417Q	probably damaging	Het
Celf1	A	G	2: 91,003,243	I115V	probably benign	Het
Ces3a	A	G	8: 105,056,424	Y395C	probably damaging	Het
Cfh	C	A	1: 140,105,466	C798F	probably damaging	Het
Clstn3	T	C	6: 124,458,129	T313A	probably benign	Het
Crmp1	T	A	5: 37,278,885	M329K	probably benign	Het
Csf2ra	C	T	19: 61,227,053	A76T	possibly damaging	Het
Cspg4	T	A	9: 56,888,443	V1154E	possibly damaging	Het
Cyp2a4	A	T	7: 26,314,763	N455I	probably benign	Het
Cyp4a32	T	G	4: 115,611,037	M268R	probably benign	Het
Dcaf13	T	A	15: 39,130,220	I236N	probably damaging	Het
Dennd2a	A	G	6: 39,523,463	I56T	probably damaging	Het
Eif2d	T	A	1: 131,171,056	S530R	probably benign	Het
Ep300	T	A	15: 81,648,514	M1651K	unknown	Het
Epha3	G	A	16: 63,598,294	T596I	probably damaging	Het
Fam171a2	C	T	11: 102,438,802	C377Y	possibly damaging	Het
Galnt5	C	A	2: 58,014,925	S500Y	probably damaging	Het
Gas6	A	G	8: 13,471,456	V431A	probably benign	Het
Gm21818	A	G	13: 120,173,458	E92G	probably damaging	Het
Gm7544	C	T	1: 82,955,781	C56Y	unknown	Het
Golgb1	T	A	16: 36,912,919	L884I	possibly damaging	Het
Gpatch2l	T	G	12: 86,265,251		probably null	Het
Gpr33	T	C	12: 52,023,267	T330A	probably benign	Het
H2bfm	G	A	X: 136,927,722	R120K	unknown	Het
Ifi205	A	G	1: 174,028,308	M52T	possibly damaging	Het
Ino80	A	T	2: 119,380,014	D1346E	probably benign	Het
Ino80c	T	C	18: 24,108,779	K183R	unknown	Het
Itgal	G	T	7: 127,306,875	R379L	probably benign	Het
Itih3	T	A	14: 30,914,773	T582S	probably benign	Het
Kcnb2	T	C	1: 15,711,027	S708P	possibly damaging	Het
Kcnt1	A	T	2: 25,915,999	Y1200F	probably benign	Het
L3mbtl4	G	A	17: 68,641,542	D473N	probably benign	Het
Lama1	T	G	17: 67,717,174	I89R		Het
Lama2	A	G	10: 27,266,634	I616T	probably benign	Het
Lipm	A	C	19: 34,116,481	D266A	probably benign	Het
Lrrc4c	A	T	2: 97,629,761	H244L	probably benign	Het
Lrrtm3	T	C	10: 64,088,146	E414G	probably damaging	Het
Ltbp4	A	G	7: 27,329,767	V231A	unknown	Het
Me3	G	T	7: 89,736,719	R92L	probably damaging	Het
Mroh7	T	G	4: 106,683,918	I1175L	probably benign	Het
Muc16	A	G	9: 18,641,962	M4345T	probably benign	Het
Mug2	A	G	6: 122,040,570	Y422C	possibly damaging	Het
N6amt1	T	G	16: 87,367,566	S214A	possibly damaging	Het
Ogfrl1	G	A	1: 23,382,982	Q24*	probably null	Het
Olfr1047	C	T	2: 86,228,213	G253R	probably damaging	Het
Olfr1150-ps1	A	T	2: 87,847,062	T264S	probably benign	Het
Olfr1274-ps	A	G	2: 90,401,459	D266G	probably damaging	Het
Olfr1306	G	A	2: 111,912,090	P280L	probably damaging	Het
Olfr1378	T	A	11: 50,969,325	Y102*	probably null	Het
Olfr701	T	C	7: 106,818,344	L87P	possibly damaging	Het
Olfr711	A	G	7: 106,972,146	M66T	probably benign	Het
Olfr731	A	C	14: 50,237,991	V298G	possibly damaging	Het
Olfr839-ps1	A	C	9: 19,175,346	M110R	possibly damaging	Het
Olfr937	T	A	9: 39,060,169	I166L	probably benign	Het
Oser1	A	T	2: 163,411,444	D48E	probably benign	Het
Piwil4	G	A	9: 14,702,395	P867L	probably damaging	Het
Pla2g6	C	T	15: 79,305,698		probably null	Het
Plxna1	A	G	6: 89,357,602	L15P	unknown	Het
Ppan	C	T	9: 20,891,844	T404I	probably benign	Het
Pros1	C	A	16: 62,928,070	Y635*	probably null	Het
Rabep2	G	A	7: 126,444,170	R414Q	probably benign	Het
Rbms3	T	A	9: 116,822,826	E201V	probably damaging	Het
Robo4	A	C	9: 37,402,809	I119L	probably benign	Het
S100b	A	T	10: 76,259,986	D66V	probably damaging	Het
Serpina1f	A	G	12: 103,689,842	S376P	probably damaging	Het
Slc24a4	T	C	12: 102,227,091		probably null	Het
Slc30a6	T	C	17: 74,423,429	V438A	probably benign	Het
Sobp	A	G	10: 43,021,808	S594P	probably benign	Het
Tmem45b	T	C	9: 31,428,038	D213G	probably benign	Het
Topbp1	T	A	9: 103,323,344	D525E	probably benign	Het
Trim30c	G	T	7: 104,388,265	L165I	probably benign	Het
Unc13b	A	T	4: 43,174,023	D1617V	unknown	Het
Ush1c	A	G	7: 46,229,255	L112P	probably damaging	Het
Vipr1	T	A	9: 121,661,473	I195N	probably damaging	Het
Vmn2r38	A	C	7: 9,075,355	V676G	probably damaging	Het
Vmn2r87	A	T	10: 130,472,123	Y749N	probably damaging	Het
Vps13d	A	T	4: 145,115,503	S2615R		Het
Whrn	A	G	4: 63,416,093	V828A	possibly damaging	Het
Zbp1	A	G	2: 173,209,165	V304A	probably benign	Het
Zeb2	A	T	2: 44,996,347	N899K	probably benign	Het
Zfp148	T	C	16: 33,497,141	S728P	possibly damaging	Het
Zfp518a	T	A	19: 40,913,763	I712N	possibly damaging	Het
Zfp683	T	C	4: 134,058,900	V446A	probably benign	Het
Zranb3	A	T	1: 127,963,851	V796D	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
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
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
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'- CACCTGCTTTGAGGATAGGTG -3'
(R):5'- CAAGTTGCAGGTCAAGCCAC -3'

Sequencing Primer
(F):5'- CTGTGAGGCTCATTCTCAAAAAGC -3'
(R):5'- GTTGCAGGTCAAGCCACATCAC -3'

Posted On

2019-10-07