Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02272:Tcaf3'

287183

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: 0.052) question?

Stock #

IGL02272

Quality Score

Status

Chromosome

Chromosomal Location

42584866-42597692 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 42596660 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 206 (Y206C)

Ref Sequence

ENSEMBL: ENSMUSP00000123321 (fasta)

Gene Model

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

AlphaFold

Q6QR59

Predicted Effect

probably benign
Transcript: ENSMUST00000069023
AA Change: Y206C

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000064060
Gene: ENSMUSG00000018656
AA Change: Y206C

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

probably damaging
Transcript: ENSMUST00000134707
AA Change: Y206C

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000123321
Gene: ENSMUSG00000018656
AA Change: Y206C

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre1	T	A	17: 57,450,021	C759*	probably null	Het
Adgrg6	T	A	10: 14,468,829	M127L	probably damaging	Het
AI314180	A	T	4: 58,811,731	N1439K	probably benign	Het
Anxa9	A	G	3: 95,305,894	V47A	probably benign	Het
Arhgef12	T	A	9: 43,001,452	D483V	probably damaging	Het
Arrdc3	C	A	13: 80,891,650		probably benign	Het
Ccdc169	A	G	3: 55,150,748	E67G	probably damaging	Het
Ccdc191	T	A	16: 43,960,022	V731D	possibly damaging	Het
Cdh3	G	T	8: 106,547,836		probably null	Het
Cntnap1	G	A	11: 101,178,316	V199M	probably damaging	Het
Cntnap3	A	T	13: 64,757,411	V852E	probably damaging	Het
Csmd1	A	T	8: 16,199,893	S1024T	probably damaging	Het
Cyp3a25	T	C	5: 145,993,265		probably benign	Het
Dusp6	T	A	10: 99,266,019	V289D	probably damaging	Het
Epha6	C	T	16: 59,818,937	R858Q	probably damaging	Het
Flrt2	T	A	12: 95,779,704	F272Y	probably damaging	Het
Gbf1	T	A	19: 46,269,803	W846R	probably damaging	Het
Gtpbp2	T	A	17: 46,164,781	V152E	probably benign	Het
Hmces	A	G	6: 87,917,855		probably null	Het
Hsph1	A	G	5: 149,617,530	S852P	probably benign	Het
Kat6b	A	C	14: 21,626,778	K394Q	probably damaging	Het
Kdr	G	A	5: 75,961,840	T475I	probably benign	Het
Klhl25	A	G	7: 75,866,620	T425A	probably benign	Het
Klk1b8	T	A	7: 43,952,793	C50S	probably damaging	Het
Kri1	T	C	9: 21,276,168	Y343C	probably damaging	Het
Lamb1	T	C	12: 31,305,769	S953P	probably benign	Het
Lpin1	A	G	12: 16,547,600	V681A	probably damaging	Het
Lpin3	A	G	2: 160,901,661	T508A	probably benign	Het
Moxd1	T	A	10: 24,282,700	Y417*	probably null	Het
Mthfd1l	T	G	10: 4,041,812	I588S	probably damaging	Het
Myo5c	C	A	9: 75,266,160	N543K	possibly damaging	Het
Myo9a	T	A	9: 59,884,600		probably benign	Het
Nme8	T	C	13: 19,658,826	Y393C	probably damaging	Het
Nr2e1	T	G	10: 42,567,979	N249T	probably damaging	Het
Pex11g	A	G	8: 3,465,898	V45A	probably benign	Het
Pkhd1	C	A	1: 20,209,260	G2945W	probably damaging	Het
Plxnd1	A	G	6: 115,993,628	F393S	probably damaging	Het
Ppp3cc	A	G	14: 70,236,489	V353A	probably damaging	Het
Prss16	T	A	13: 22,003,035	Q455L	probably damaging	Het
Ptpn6	A	T	6: 124,721,208	V524E	probably damaging	Het
Rap1gap	A	G	4: 137,716,566	Y163C	probably damaging	Het
Rnf31	C	T	14: 55,598,782	L598F	probably damaging	Het
Sardh	T	G	2: 27,224,991	D550A	probably benign	Het
Serpinc1	T	G	1: 160,999,992	I387S	probably damaging	Het
Sh3d19	A	T	3: 86,121,167	D650V	probably benign	Het
Sipa1l2	T	A	8: 125,492,011	T196S	probably damaging	Het
Slc25a46	T	C	18: 31,583,568	T294A	probably benign	Het
Srrm2	T	C	17: 23,815,782		probably benign	Het
Steap2	T	A	5: 5,677,612	N241I	probably benign	Het
Tmem259	T	A	10: 79,978,463	Q322L	probably damaging	Het
Tnni2	C	A	7: 142,443,429	Q52K	possibly damaging	Het
Ttn	A	G	2: 76,735,028	V28285A	possibly damaging	Het
Uba7	T	A	9: 107,976,153	S99R	probably benign	Het
Ubxn2b	A	T	4: 6,216,071	K331N	probably damaging	Het
Usp50	G	A	2: 126,769,944	T232I	probably damaging	Het
Vmn2r116	G	A	17: 23,385,999	M95I	probably benign	Het
Vmn2r116	T	A	17: 23,386,004	L97Q	probably damaging	Het
Vmn2r24	A	T	6: 123,786,884	N240I	possibly damaging	Het
Vmn2r72	T	C	7: 85,750,693	R383G	probably benign	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
IGL01804:Tcaf3	APN	6	42597129	missense	probably damaging	1.00
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

2015-04-16