Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00162:Tcaf3'

1584

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

Is this an essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

IGL00162

Quality Score

Status

Chromosome

Chromosomal Location

42584866-42597692 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 42593385 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 478 (T478A)

Ref Sequence

ENSEMBL: ENSMUSP00000064060 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000069023
AA Change: T478A

PolyPhen 2 Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000064060
Gene: ENSMUSG00000018656
AA Change: T478A

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 benign
Transcript: ENSMUST00000134707

SMART Domains

Protein: ENSMUSP00000123321
Gene: ENSMUSG00000018656

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
C330021F23Rik	A	G	8: 3,583,904	T2A	probably benign	Het
Cc2d1b	T	G	4: 108,627,378	L470R	probably damaging	Het
Cd96	A	T	16: 46,071,799	N275K	possibly damaging	Het
Col22a1	A	G	15: 71,860,958		probably null	Het
Cyb561	T	C	11: 105,935,836	H197R	probably damaging	Het
Dlgap1	T	C	17: 70,516,085	S22P	probably benign	Het
Dnajc6	A	G	4: 101,508,089		probably benign	Het
Fgf6	A	T	6: 127,024,085	K185N	possibly damaging	Het
Fshr	T	C	17: 88,986,191	N353S	probably damaging	Het
Gabbr1	T	A	17: 37,048,443	Y103*	probably null	Het
Gm7247	G	A	14: 51,523,505	C177Y	possibly damaging	Het
Hikeshi	A	G	7: 89,935,781	F72L	probably damaging	Het
Ikzf4	T	C	10: 128,634,547	E368G	probably benign	Het
Kdm3b	A	G	18: 34,809,409	E851G	probably benign	Het
Kif3b	A	G	2: 153,317,131	D284G	probably damaging	Het
Kyat3	G	A	3: 142,734,474	A320T	probably benign	Het
Mok	C	T	12: 110,808,197		probably benign	Het
Mrgpra3	A	G	7: 47,589,519	F220L	probably benign	Het
Nr4a1	T	C	15: 101,270,899	V272A	probably damaging	Het
Olfr1124	A	G	2: 87,435,063	H192R	probably benign	Het
Olfr703	A	G	7: 106,845,367	Y252C	possibly damaging	Het
Pikfyve	T	A	1: 65,260,121		probably null	Het
Plekhn1	T	G	4: 156,223,363	T369P	probably damaging	Het
Ptpn12	T	C	5: 21,029,850	E45G	probably damaging	Het
Ralgps1	A	T	2: 33,137,682	*516R	probably null	Het
Senp6	A	G	9: 80,116,610	D385G	probably damaging	Het
Siglech	T	C	7: 55,772,591		probably benign	Het
Slit1	A	G	19: 41,650,835	L212P	probably damaging	Het
Smchd1	T	A	17: 71,465,673		probably benign	Het
Snapc4	A	T	2: 26,369,312	C609S	probably benign	Het
Strn3	T	C	12: 51,661,196	T139A	possibly damaging	Het
Tlr3	A	G	8: 45,400,690	S198P	probably damaging	Het
Ttn	C	T	2: 76,890,479		probably benign	Het
Vil1	G	A	1: 74,423,875	E406K	probably damaging	Het
Zfp462	A	G	4: 55,011,483		probably null	Het
Zfyve9	A	G	4: 108,642,107	V1338A	possibly damaging	Het

Other mutations in Tcaf3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2011-07-12