Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01804:Tcaf3'

155615

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tcaf3

Ensembl Gene

ENSMUSG00000018656

Gene Name

TRPM8 channel-associated factor 3

Synonyms

Eapa2, Fam115e

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

IGL01804

Quality Score

Status

Chromosome

Chromosomal Location

42584866-42597692 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 42597129 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 50 (I50F)

Ref Sequence

ENSEMBL: ENSMUSP00000064060 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069023] [ENSMUST00000134707]

AlphaFold

Q6QR59

Predicted Effect

probably damaging
Transcript: ENSMUST00000069023
AA Change: I50F

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

SMART Domains

Protein: ENSMUSP00000064060
Gene: ENSMUSG00000018656
AA Change: I50F

Domain	Start	End	E-Value	Type
internal_repeat_1	26	194	9.98e-16	PROSPERO
low complexity region	210	221	N/A	INTRINSIC
internal_repeat_1	234	402	9.98e-16	PROSPERO
low complexity region	509	518	N/A	INTRINSIC
M60-like	533	832	3.49e-130	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000134707
AA Change: I50F

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000123321
Gene: ENSMUSG00000018656
AA Change: I50F

Domain	Start	End	E-Value	Type
low complexity region	210	221	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	C	1: 71,276,183	N1860D	probably benign	Het
Abca2	T	A	2: 25,446,625	C2248S	probably damaging	Het
Adamts16	G	A	13: 70,800,961	Q194*	probably null	Het
Cetn3	A	T	13: 81,784,660	K13*	probably null	Het
Cldn18	T	A	9: 99,698,848	K116*	probably null	Het
Cntn5	T	A	9: 9,831,537	I613F	probably damaging	Het
Cyp46a1	A	G	12: 108,355,486	I324V	probably benign	Het
Ddb1	A	C	19: 10,613,018	E303A	probably damaging	Het
Dnajc2	A	G	5: 21,757,363	V539A	probably damaging	Het
Dock2	T	A	11: 34,262,433	Y1236F	probably benign	Het
Dpf1	T	A	7: 29,316,501	C383S	probably damaging	Het
Edc4	T	A	8: 105,890,657	I1052N	possibly damaging	Het
Ehmt1	A	G	2: 24,791,954	L1243P	probably damaging	Het
Exoc6b	A	G	6: 84,908,166	S264P	probably damaging	Het
Gbx2	T	C	1: 89,928,981	E229G	probably benign	Het
Hip1r	T	A	5: 124,001,550		probably null	Het
Lig1	A	G	7: 13,309,206	K859E	probably benign	Het
Ly6g6f	T	C	17: 35,081,170	D234G	possibly damaging	Het
Mmp11	G	T	10: 75,928,470	L54I	probably benign	Het
Naip5	A	T	13: 100,221,584	L1048Q	probably damaging	Het
Olfr1228	C	A	2: 89,249,222	M157I	probably benign	Het
Olfr146	T	C	9: 39,019,401	I47V	probably benign	Het
Olfr427	A	G	1: 174,099,835	I126V	probably damaging	Het
Olfr834	T	A	9: 18,988,840	M284K	probably benign	Het
Pappa2	T	C	1: 158,936,519	D474G	probably benign	Het
Plxna1	A	G	6: 89,329,646	Y1401H	probably damaging	Het
Prrg4	T	A	2: 104,832,690	E190D	probably damaging	Het
Rnf213	T	C	11: 119,442,266	F2767S	probably damaging	Het
Scgb1b2	T	A	7: 31,291,730		probably benign	Het
Sec31a	A	G	5: 100,375,206		probably null	Het
Slc12a4	A	G	8: 105,944,401	S1014P	probably damaging	Het
Spns2	A	T	11: 72,457,304	I279N	possibly damaging	Het
Spta1	A	T	1: 174,244,180	H2242L	probably benign	Het
Tnfaip8l1	G	A	17: 56,172,214	S168N	probably benign	Het
Trak1	C	T	9: 121,442,685		probably benign	Het
Trpv4	A	T	5: 114,644,786	N38K	possibly damaging	Het
Ube2o	T	C	11: 116,544,373	T530A	probably benign	Het
Vmn2r2	A	G	3: 64,134,256	V346A	possibly damaging	Het
Vmn2r86	A	C	10: 130,452,989	D214E	probably damaging	Het
Wwc1	C	A	11: 35,841,924	D986Y	probably damaging	Het
Xdh	T	C	17: 73,892,759	D1184G	probably damaging	Het

Other mutations in Tcaf3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00162:Tcaf3	APN	6	42593385	missense	probably benign	0.14
IGL00931:Tcaf3	APN	6	42597228	missense	probably benign	0.16
IGL01391:Tcaf3	APN	6	42593681	missense	probably damaging	1.00
IGL02272:Tcaf3	APN	6	42596660	missense	probably damaging	0.98
IGL02934:Tcaf3	APN	6	42593898	missense	probably benign	0.00
IGL03258:Tcaf3	APN	6	42589839	missense	probably damaging	1.00
defused	UTSW	6	42596933	missense	probably benign	0.03
R0116:Tcaf3	UTSW	6	42591350	missense	probably benign	0.12
R0135:Tcaf3	UTSW	6	42589758	missense	probably benign
R0357:Tcaf3	UTSW	6	42589827	missense	probably damaging	0.98
R0526:Tcaf3	UTSW	6	42589804	missense	probably damaging	1.00
R0592:Tcaf3	UTSW	6	42596843	missense	probably benign	0.16
R1185:Tcaf3	UTSW	6	42591434	missense	probably damaging	1.00
R1185:Tcaf3	UTSW	6	42591434	missense	probably damaging	1.00
R1185:Tcaf3	UTSW	6	42591434	missense	probably damaging	1.00
R1902:Tcaf3	UTSW	6	42593552	missense	possibly damaging	0.83
R1912:Tcaf3	UTSW	6	42596688	missense	possibly damaging	0.59
R2020:Tcaf3	UTSW	6	42593724	missense	possibly damaging	0.66
R2238:Tcaf3	UTSW	6	42593328	missense	probably benign	0.00
R2259:Tcaf3	UTSW	6	42591430	missense	possibly damaging	0.53
R2436:Tcaf3	UTSW	6	42593729	missense	probably damaging	1.00
R3005:Tcaf3	UTSW	6	42594044	missense	probably damaging	1.00
R3402:Tcaf3	UTSW	6	42593853	missense	probably benign	0.08
R3753:Tcaf3	UTSW	6	42589804	missense	probably damaging	1.00
R3799:Tcaf3	UTSW	6	42597080	missense	probably damaging	1.00
R4515:Tcaf3	UTSW	6	42589996	missense	probably damaging	1.00
R4640:Tcaf3	UTSW	6	42587579	missense	probably damaging	0.96
R4688:Tcaf3	UTSW	6	42593366	splice site	probably null
R4904:Tcaf3	UTSW	6	42593997	nonsense	probably null
R5030:Tcaf3	UTSW	6	42596933	missense	probably benign	0.03
R5031:Tcaf3	UTSW	6	42596933	missense	probably benign	0.03
R5045:Tcaf3	UTSW	6	42593684	missense	possibly damaging	0.55
R5105:Tcaf3	UTSW	6	42591325	missense	probably damaging	1.00
R5139:Tcaf3	UTSW	6	42596933	missense	probably benign	0.03
R5187:Tcaf3	UTSW	6	42597020	missense	possibly damaging	0.51
R5196:Tcaf3	UTSW	6	42593715	missense	probably benign	0.00
R5213:Tcaf3	UTSW	6	42591467	missense	probably damaging	1.00
R5296:Tcaf3	UTSW	6	42587510	missense	possibly damaging	0.55
R5402:Tcaf3	UTSW	6	42591926	missense	probably benign	0.12
R5425:Tcaf3	UTSW	6	42596763	missense	probably damaging	1.00
R5431:Tcaf3	UTSW	6	42597185	missense	probably damaging	1.00
R5601:Tcaf3	UTSW	6	42587528	missense	possibly damaging	0.90
R5839:Tcaf3	UTSW	6	42593849	missense	possibly damaging	0.55
R5865:Tcaf3	UTSW	6	42596697	missense	probably benign	0.07
R6005:Tcaf3	UTSW	6	42589971	missense	probably benign	0.19
R6270:Tcaf3	UTSW	6	42593791	missense	probably benign	0.00
R6341:Tcaf3	UTSW	6	42597259	missense	possibly damaging	0.55
R6344:Tcaf3	UTSW	6	42597171	missense	possibly damaging	0.48
R6521:Tcaf3	UTSW	6	42593238	missense	probably damaging	0.99
R6589:Tcaf3	UTSW	6	42594061	missense	possibly damaging	0.55
R6981:Tcaf3	UTSW	6	42597125	missense	probably damaging	1.00
R7155:Tcaf3	UTSW	6	42593891	missense	probably benign
R7185:Tcaf3	UTSW	6	42593930	missense	probably benign	0.01
R7262:Tcaf3	UTSW	6	42593801	missense	probably damaging	0.97
R7340:Tcaf3	UTSW	6	42589914	missense	probably benign	0.08
R7421:Tcaf3	UTSW	6	42596842	missense	probably benign	0.02
R7690:Tcaf3	UTSW	6	42597135	missense	probably damaging	1.00
R7850:Tcaf3	UTSW	6	42594206	splice site	probably null
R7909:Tcaf3	UTSW	6	42591964	missense	possibly damaging	0.92
R9419:Tcaf3	UTSW	6	42596782	missense	probably benign	0.00
R9440:Tcaf3	UTSW	6	42596972	nonsense	probably null
R9469:Tcaf3	UTSW	6	42596894	missense	probably benign	0.00
R9668:Tcaf3	UTSW	6	42589702	missense	probably damaging	1.00
R9787:Tcaf3	UTSW	6	42597090	missense	probably benign	0.00

Posted On

2014-02-04