Mutagenetix > Incidental Mutations

Incidental Mutation 'R0005:Fat3'

19321

Institutional Source

Beutler Lab

Gene Symbol

Fat3

Ensembl Gene

ENSMUSG00000074505

Gene Name

FAT atypical cadherin 3

Synonyms

9430076A06Rik, D430038H04Rik, LOC382129, LOC234973

MMRRC Submission

038301-MU

Accession Numbers

Genbank: NM_001080814; MGI: 2444314

Is this an essential gene?

Possibly essential (E-score: 0.528) question?

Stock #

R0005 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

15910189-16501285 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 15962866 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 3485 (N3485I)

Ref Sequence

ENSEMBL: ENSMUSP00000148968 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000082170] [ENSMUST00000217308]

Predicted Effect

probably damaging
Transcript: ENSMUST00000082170
AA Change: N3485I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000080808
Gene: ENSMUSG00000074505
AA Change: N3485I

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
CA	65	151	3e-7	SMART
CA	175	259	8.9e-22	SMART
CA	280	368	8.9e-4	SMART
CA	389	465	2.6e-11	SMART
CA	489	571	2e-29	SMART
low complexity region	684	697	N/A	INTRINSIC
CA	743	824	1e-24	SMART
low complexity region	830	840	N/A	INTRINSIC
CA	848	929	7.6e-26	SMART
CA	953	1034	1.5e-25	SMART
CA	1060	1141	6.6e-32	SMART
CA	1165	1247	1.5e-30	SMART
CA	1273	1349	1.8e-8	SMART
CA	1375	1453	2.9e-12	SMART
CA	1477	1559	3e-22	SMART
CA	1583	1664	3.1e-16	SMART
CA	1688	1762	4.2e-22	SMART
CA	1793	1876	2.5e-26	SMART
CA	1900	1975	1.5e-8	SMART
low complexity region	1983	1994	N/A	INTRINSIC
CA	1999	2077	1.4e-18	SMART
CA	2101	2179	6.6e-10	SMART
CA	2203	2280	4.9e-19	SMART
CA	2304	2387	4.3e-29	SMART
CA	2411	2489	4.2e-11	SMART
CA	2513	2593	2.8e-22	SMART
CA	2617	2701	4.3e-10	SMART
CA	2719	2807	2.5e-7	SMART
CA	2831	2917	3.3e-27	SMART
CA	2941	3022	9.4e-23	SMART
CA	3046	3124	2.4e-26	SMART
CA	3148	3229	1.3e-32	SMART
CA	3253	3334	1.3e-29	SMART
CA	3358	3439	4.9e-28	SMART
CA	3463	3544	6.4e-12	SMART
EGF	3793	3828	1.3e-1	SMART
LamG	3852	3989	4.3e-25	SMART
EGF	4019	4053	2.7e-6	SMART
EGF	4058	4091	4.5e-6	SMART
EGF_CA	4093	4129	3.9e-11	SMART
transmembrane domain	4151	4170	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000217308
AA Change: N3485I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.3675

Coding Region Coverage

1x: 27.1%

Validation Efficiency

88% (7/8)

MGI Phenotype

PHENOTYPE: Mice homozgyous for a knock-out allele exhibit abnormal amacrine cell differentiation and migration that result in the formation of two additional plexiform layers and thickened retinal ganglion layer. [provided by MGI curators]

Allele List at MGI

All alleles(3) : Gene trapped(3)

Other mutations in Fat3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00662:Fat3	APN	9	15996427	missense	possibly damaging	0.77
IGL00962:Fat3	APN	9	15915519	missense	probably benign	0.14
IGL00966:Fat3	APN	9	15999094	missense	possibly damaging	0.69
IGL01100:Fat3	APN	9	16375228	missense	probably damaging	1.00
IGL01104:Fat3	APN	9	16375728	missense	possibly damaging	0.92
IGL01104:Fat3	APN	9	15998460	missense	probably damaging	1.00
IGL01121:Fat3	APN	9	15998401	missense	probably benign	0.00
IGL01407:Fat3	APN	9	16378023	missense	probably benign	0.01
IGL01444:Fat3	APN	9	15998848	missense	probably damaging	1.00
IGL01634:Fat3	APN	9	15998358	missense	probably damaging	1.00
IGL01649:Fat3	APN	9	16376719	missense	possibly damaging	0.95
IGL01839:Fat3	APN	9	15997872	missense	probably damaging	1.00
IGL01867:Fat3	APN	9	16377901	missense	probably benign	0.03
IGL01894:Fat3	APN	9	16375849	missense	probably benign
IGL01913:Fat3	APN	9	15998790	missense	probably damaging	0.99
IGL02033:Fat3	APN	9	15915352	missense	possibly damaging	0.50
IGL02035:Fat3	APN	9	16377970	missense	probably benign	0.06
IGL02146:Fat3	APN	9	15999582	missense	probably benign
IGL02147:Fat3	APN	9	15995985	missense	probably damaging	1.00
IGL02161:Fat3	APN	9	15997050	missense	probably benign	0.10
IGL02161:Fat3	APN	9	15997051	nonsense	probably null
IGL02164:Fat3	APN	9	16031424	splice site	probably benign
IGL02269:Fat3	APN	9	15915577	missense	possibly damaging	0.84
IGL02314:Fat3	APN	9	15969838	missense	possibly damaging	0.61
IGL02393:Fat3	APN	9	15988412	nonsense	probably null
IGL02410:Fat3	APN	9	15997845	missense	probably damaging	1.00
IGL02504:Fat3	APN	9	15959798	missense	probably damaging	1.00
IGL02572:Fat3	APN	9	15960506	missense	probably benign
IGL02623:Fat3	APN	9	15997137	missense	probably damaging	1.00
IGL02654:Fat3	APN	9	15996975	missense	possibly damaging	0.84
IGL02749:Fat3	APN	9	16006711	missense	possibly damaging	0.93
IGL02810:Fat3	APN	9	16376850	missense	probably damaging	1.00
IGL02839:Fat3	APN	9	15919170	missense	probably damaging	1.00
IGL02890:Fat3	APN	9	15915340	missense	probably benign	0.03
IGL02892:Fat3	APN	9	16377562	missense	probably damaging	1.00
IGL03090:Fat3	APN	9	16377239	nonsense	probably null
IGL03144:Fat3	APN	9	16375245	missense	probably damaging	1.00
IGL03199:Fat3	APN	9	16377048	missense	possibly damaging	0.83
IGL03365:Fat3	APN	9	15996469	missense	probably damaging	1.00
IGL03392:Fat3	APN	9	16003862	missense	probably benign
IGL03408:Fat3	APN	9	15997957	nonsense	probably null
gagged	UTSW	9	15998271	missense	probably damaging	1.00
Muffled	UTSW	9	15937991	critical splice donor site	probably null
Softened	UTSW	9	16378185	missense	probably benign
F6893:Fat3	UTSW	9	16006789	missense	probably damaging	0.99
IGL03050:Fat3	UTSW	9	15996600	missense	probably benign	0.04
PIT4142001:Fat3	UTSW	9	15992118	critical splice donor site	probably null
PIT4283001:Fat3	UTSW	9	16006601	missense	possibly damaging	0.77
PIT4378001:Fat3	UTSW	9	16376808	missense	probably benign	0.05
PIT4434001:Fat3	UTSW	9	15996316	missense	probably benign	0.00
PIT4468001:Fat3	UTSW	9	15996351	missense	probably benign	0.06
R0001:Fat3	UTSW	9	16377873	missense	probably damaging	0.99
R0005:Fat3	UTSW	9	15962866	missense	probably damaging	1.00
R0038:Fat3	UTSW	9	15915010	missense	probably damaging	1.00
R0046:Fat3	UTSW	9	15965979	missense	possibly damaging	0.65
R0089:Fat3	UTSW	9	15938205	missense	probably benign
R0135:Fat3	UTSW	9	16006777	missense	probably damaging	1.00
R0255:Fat3	UTSW	9	15969706	splice site	probably benign
R0349:Fat3	UTSW	9	16031180	missense	probably damaging	1.00
R0361:Fat3	UTSW	9	15998403	missense	possibly damaging	0.77
R0382:Fat3	UTSW	9	15959756	missense	probably damaging	1.00
R0418:Fat3	UTSW	9	16246896	missense	probably damaging	1.00
R0419:Fat3	UTSW	9	15992256	missense	probably damaging	1.00
R0437:Fat3	UTSW	9	15996932	missense	probably damaging	1.00
R0441:Fat3	UTSW	9	15945008	splice site	probably benign
R0480:Fat3	UTSW	9	15997729	missense	probably benign	0.00
R0510:Fat3	UTSW	9	15999685	nonsense	probably null
R0665:Fat3	UTSW	9	15997402	missense	probably benign
R0715:Fat3	UTSW	9	16375123	missense	probably benign
R0727:Fat3	UTSW	9	15996699	missense	probably damaging	1.00
R0882:Fat3	UTSW	9	16031368	missense	possibly damaging	0.84
R0946:Fat3	UTSW	9	15997804	missense	possibly damaging	0.95
R1068:Fat3	UTSW	9	15970034	missense	probably benign
R1081:Fat3	UTSW	9	16375284	missense	possibly damaging	0.62
R1082:Fat3	UTSW	9	16006615	missense	probably damaging	1.00
R1148:Fat3	UTSW	9	15996774	missense	probably damaging	1.00
R1148:Fat3	UTSW	9	15996774	missense	probably damaging	1.00
R1233:Fat3	UTSW	9	15922745	missense	probably benign
R1306:Fat3	UTSW	9	16376679	missense	probably damaging	1.00
R1311:Fat3	UTSW	9	16021410	missense	probably damaging	1.00
R1338:Fat3	UTSW	9	15925091	missense	probably benign	0.00
R1395:Fat3	UTSW	9	16246916	missense	probably benign	0.00
R1466:Fat3	UTSW	9	16375482	missense	probably damaging	0.96
R1466:Fat3	UTSW	9	16375482	missense	probably damaging	0.96
R1510:Fat3	UTSW	9	15960055	missense	probably damaging	1.00
R1528:Fat3	UTSW	9	15925091	missense	probably benign	0.00
R1531:Fat3	UTSW	9	15997465	missense	probably damaging	1.00
R1659:Fat3	UTSW	9	15997183	missense	possibly damaging	0.91
R1697:Fat3	UTSW	9	15944880	missense	probably benign	0.05
R1699:Fat3	UTSW	9	15938398	missense	probably damaging	1.00
R1728:Fat3	UTSW	9	15996315	missense	possibly damaging	0.65
R1729:Fat3	UTSW	9	15996315	missense	possibly damaging	0.65
R1731:Fat3	UTSW	9	15995937	missense	probably benign
R1784:Fat3	UTSW	9	15996315	missense	possibly damaging	0.65
R1789:Fat3	UTSW	9	16376985	missense	probably benign	0.00
R1794:Fat3	UTSW	9	15997136	nonsense	probably null
R1794:Fat3	UTSW	9	15997138	missense	probably benign	0.15
R1830:Fat3	UTSW	9	15915340	missense	probably benign	0.03
R1835:Fat3	UTSW	9	15998088	missense	probably damaging	1.00
R1887:Fat3	UTSW	9	15967061	missense	probably damaging	1.00
R1898:Fat3	UTSW	9	15960130	missense	probably damaging	1.00
R1909:Fat3	UTSW	9	15998115	missense	probably benign
R1912:Fat3	UTSW	9	15969988	missense	probably damaging	1.00
R1917:Fat3	UTSW	9	15997057	missense	possibly damaging	0.55
R1967:Fat3	UTSW	9	15968295	missense	probably benign	0.00
R2070:Fat3	UTSW	9	15999370	missense	probably benign	0.21
R2100:Fat3	UTSW	9	16377430	missense	possibly damaging	0.73
R2104:Fat3	UTSW	9	15998517	missense	possibly damaging	0.77
R2113:Fat3	UTSW	9	15999786	missense	probably damaging	1.00
R2132:Fat3	UTSW	9	16246719	critical splice donor site	probably null
R2136:Fat3	UTSW	9	16377051	missense	probably benign	0.01
R2146:Fat3	UTSW	9	15990512	missense	probably benign	0.01
R2233:Fat3	UTSW	9	15998271	missense	probably damaging	1.00
R2234:Fat3	UTSW	9	15998271	missense	probably damaging	1.00
R2273:Fat3	UTSW	9	15915262	missense	probably benign
R2285:Fat3	UTSW	9	16376173	missense	probably damaging	1.00
R2363:Fat3	UTSW	9	15998271	missense	probably damaging	1.00
R2365:Fat3	UTSW	9	15998271	missense	probably damaging	1.00
R2367:Fat3	UTSW	9	15998271	missense	probably damaging	1.00
R2403:Fat3	UTSW	9	15969871	missense	probably damaging	1.00
R2447:Fat3	UTSW	9	15998271	missense	probably damaging	1.00
R2496:Fat3	UTSW	9	15966103	missense	probably benign	0.01
R2509:Fat3	UTSW	9	15925014	missense	possibly damaging	0.82
R2932:Fat3	UTSW	9	16375944	missense	probably damaging	1.00
R2986:Fat3	UTSW	9	15992128	missense	probably damaging	1.00
R3054:Fat3	UTSW	9	15960496	missense	probably benign
R3056:Fat3	UTSW	9	15960496	missense	probably benign
R3729:Fat3	UTSW	9	16247041	splice site	probably benign
R3745:Fat3	UTSW	9	15998271	missense	probably damaging	1.00
R3806:Fat3	UTSW	9	15998271	missense	probably damaging	1.00
R3859:Fat3	UTSW	9	15997228	nonsense	probably null
R3862:Fat3	UTSW	9	15998271	missense	probably damaging	1.00
R3890:Fat3	UTSW	9	15998271	missense	probably damaging	1.00
R3892:Fat3	UTSW	9	15998271	missense	probably damaging	1.00
R3950:Fat3	UTSW	9	15998271	missense	probably damaging	1.00
R3972:Fat3	UTSW	9	15998271	missense	probably damaging	1.00
R4004:Fat3	UTSW	9	15998271	missense	probably damaging	1.00
R4005:Fat3	UTSW	9	15998271	missense	probably damaging	1.00
R4086:Fat3	UTSW	9	15998271	missense	probably damaging	1.00
R4111:Fat3	UTSW	9	15998271	missense	probably damaging	1.00
R4113:Fat3	UTSW	9	15998271	missense	probably damaging	1.00
R4227:Fat3	UTSW	9	16377693	missense	probably damaging	1.00
R4352:Fat3	UTSW	9	16246778	missense	possibly damaging	0.55
R4394:Fat3	UTSW	9	15922792	missense	probably benign	0.11
R4403:Fat3	UTSW	9	15944873	missense	probably damaging	1.00
R4433:Fat3	UTSW	9	16031152	missense	probably damaging	0.99
R4453:Fat3	UTSW	9	15998271	missense	probably damaging	1.00
R4479:Fat3	UTSW	9	15998271	missense	probably damaging	1.00
R4480:Fat3	UTSW	9	15998271	missense	probably damaging	1.00
R4521:Fat3	UTSW	9	15922942	missense	probably null	0.71
R4620:Fat3	UTSW	9	15996894	missense	probably damaging	1.00
R4700:Fat3	UTSW	9	16031173	missense	probably damaging	1.00
R4721:Fat3	UTSW	9	16029966	missense	probably damaging	1.00
R4790:Fat3	UTSW	9	15998484	missense	probably damaging	1.00
R4796:Fat3	UTSW	9	15999732	missense	probably benign	0.17
R4823:Fat3	UTSW	9	15996507	missense	probably benign
R4836:Fat3	UTSW	9	16377723	missense	probably damaging	1.00
R4842:Fat3	UTSW	9	15997587	missense	probably damaging	1.00
R4849:Fat3	UTSW	9	16377948	missense	probably benign	0.03
R4856:Fat3	UTSW	9	16021330	missense	probably benign
R4869:Fat3	UTSW	9	16377477	missense	probably damaging	0.98
R4886:Fat3	UTSW	9	16021330	missense	probably benign
R4899:Fat3	UTSW	9	15969799	missense	probably damaging	1.00
R4941:Fat3	UTSW	9	16375152	missense	probably damaging	1.00
R4986:Fat3	UTSW	9	15998340	missense	probably damaging	1.00
R5058:Fat3	UTSW	9	15996858	missense	probably damaging	1.00
R5079:Fat3	UTSW	9	15999127	missense	probably benign	0.01
R5080:Fat3	UTSW	9	15999338	missense	probably benign	0.35
R5174:Fat3	UTSW	9	15999570	missense	probably damaging	1.00
R5183:Fat3	UTSW	9	15960313	missense	probably damaging	0.99
R5203:Fat3	UTSW	9	16378142	missense	possibly damaging	0.79
R5216:Fat3	UTSW	9	16377537	missense	probably damaging	1.00
R5230:Fat3	UTSW	9	15990560	missense	possibly damaging	0.51
R5318:Fat3	UTSW	9	16376629	missense	probably damaging	1.00
R5377:Fat3	UTSW	9	16376443	missense	probably benign	0.05
R5385:Fat3	UTSW	9	15922675	missense	possibly damaging	0.82
R5436:Fat3	UTSW	9	15960514	missense	probably benign	0.02
R5437:Fat3	UTSW	9	16085308	missense	probably damaging	1.00
R5453:Fat3	UTSW	9	15996864	missense	probably damaging	1.00
R5460:Fat3	UTSW	9	15919167	missense	probably damaging	1.00
R5516:Fat3	UTSW	9	15998709	missense	probably damaging	1.00
R5568:Fat3	UTSW	9	16376923	nonsense	probably null
R5628:Fat3	UTSW	9	15966096	missense	probably damaging	1.00
R5835:Fat3	UTSW	9	16375833	missense	probably damaging	1.00
R5845:Fat3	UTSW	9	16377210	missense	probably damaging	1.00
R5898:Fat3	UTSW	9	15938461	missense	probably benign	0.15
R5941:Fat3	UTSW	9	15999501	missense	probably benign	0.07
R5974:Fat3	UTSW	9	16006528	critical splice donor site	probably null
R5986:Fat3	UTSW	9	15998317	missense	probably benign	0.22
R6015:Fat3	UTSW	9	16376050	missense	possibly damaging	0.55
R6031:Fat3	UTSW	9	15988492	missense	probably benign	0.02
R6031:Fat3	UTSW	9	15988492	missense	probably benign	0.02
R6042:Fat3	UTSW	9	16377817	missense	probably benign	0.12
R6051:Fat3	UTSW	9	16375455	missense	possibly damaging	0.83
R6052:Fat3	UTSW	9	15922679	missense	probably null
R6119:Fat3	UTSW	9	16376568	missense	possibly damaging	0.82
R6161:Fat3	UTSW	9	16377522	missense	probably damaging	1.00
R6254:Fat3	UTSW	9	15996145	missense	probably benign	0.19
R6318:Fat3	UTSW	9	15916984	intron	probably benign
R6347:Fat3	UTSW	9	15998372	missense	probably damaging	1.00
R6348:Fat3	UTSW	9	15937991	critical splice donor site	probably null
R6351:Fat3	UTSW	9	15938398	missense	probably damaging	1.00
R6450:Fat3	UTSW	9	15999170	missense	possibly damaging	0.51
R6460:Fat3	UTSW	9	15967000	missense	probably damaging	1.00
R6524:Fat3	UTSW	9	15992256	missense	probably damaging	1.00
R6533:Fat3	UTSW	9	15998899	missense	probably benign	0.02
R6565:Fat3	UTSW	9	15915327	missense	probably benign
R6576:Fat3	UTSW	9	16377210	missense	probably damaging	1.00
R6649:Fat3	UTSW	9	16376742	missense	probably damaging	1.00
R6716:Fat3	UTSW	9	15919269	missense	probably benign
R6719:Fat3	UTSW	9	15996144	missense	probably benign
R6753:Fat3	UTSW	9	15915061	missense	possibly damaging	0.82
R6754:Fat3	UTSW	9	15915061	missense	possibly damaging	0.82
R6755:Fat3	UTSW	9	15915061	missense	possibly damaging	0.82
R6792:Fat3	UTSW	9	16375644	missense	probably damaging	1.00
R6802:Fat3	UTSW	9	15915061	missense	possibly damaging	0.82
R6803:Fat3	UTSW	9	15996787	missense	probably damaging	0.99
R6831:Fat3	UTSW	9	15915061	missense	possibly damaging	0.82
R6831:Fat3	UTSW	9	16376551	missense	probably damaging	0.98
R6833:Fat3	UTSW	9	15915061	missense	possibly damaging	0.82
R6877:Fat3	UTSW	9	15999268	missense	probably benign
R6894:Fat3	UTSW	9	15997776	missense	probably damaging	1.00
R6915:Fat3	UTSW	9	16377748	missense	probably benign	0.37
R6931:Fat3	UTSW	9	15959942	missense	possibly damaging	0.89
R6934:Fat3	UTSW	9	16376956	missense	probably damaging	0.98
R6940:Fat3	UTSW	9	15916800	intron	probably null
R6959:Fat3	UTSW	9	15996885	missense	possibly damaging	0.91
R6969:Fat3	UTSW	9	16029916	missense	probably benign	0.29
R6986:Fat3	UTSW	9	16021335	missense	probably damaging	1.00
R6993:Fat3	UTSW	9	15919221	missense	probably damaging	1.00
R7039:Fat3	UTSW	9	16376265	missense	probably damaging	1.00
R7051:Fat3	UTSW	9	16377827	missense	probably damaging	1.00
R7089:Fat3	UTSW	9	15996918	missense	probably benign	0.01
R7136:Fat3	UTSW	9	16378185	missense	probably benign
R7137:Fat3	UTSW	9	15997148	missense	probably damaging	1.00
R7154:Fat3	UTSW	9	15996864	missense	probably damaging	1.00
R7170:Fat3	UTSW	9	16006574	missense	probably damaging	0.99
R7183:Fat3	UTSW	9	15922837	missense	possibly damaging	0.81
R7237:Fat3	UTSW	9	16377214	missense	probably damaging	1.00
R7288:Fat3	UTSW	9	15998592	missense	probably damaging	1.00
R7293:Fat3	UTSW	9	15915040	missense
R7293:Fat3	UTSW	9	15915296	missense
R7381:Fat3	UTSW	9	16246987	missense	probably damaging	1.00
R7438:Fat3	UTSW	9	15988482	missense	probably benign
R7537:Fat3	UTSW	9	15938319	missense	probably damaging	1.00
R7560:Fat3	UTSW	9	15996842	missense	probably damaging	1.00
R7585:Fat3	UTSW	9	15998262	missense	probably benign	0.03
R7623:Fat3	UTSW	9	15988324	missense	probably damaging	1.00
R7624:Fat3	UTSW	9	15959869	missense	possibly damaging	0.72
R7684:Fat3	UTSW	9	15988268	critical splice donor site	probably null
R7690:Fat3	UTSW	9	15998181	missense	probably damaging	1.00
R7804:Fat3	UTSW	9	15990592	missense	probably benign	0.01
R7809:Fat3	UTSW	9	16006628	missense	probably damaging	1.00
RF006:Fat3	UTSW	9	15998617	missense	probably benign	0.36
X0021:Fat3	UTSW	9	16029931	missense	probably null	0.66
X0026:Fat3	UTSW	9	15996333	missense	probably benign
X0064:Fat3	UTSW	9	15919277	missense	probably benign

Posted On

2013-03-25