Mutagenetix > Incidental Mutation

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

Essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

IGL00162

Quality Score

Status

Chromosome

Chromosomal Location

42564147-42574306 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 42570319 bp (GRCm39)

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]

AlphaFold

Q6QR59

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
Cc2d1b	T	G	4: 108,484,575 (GRCm39)	L470R	probably damaging	Het
Cd96	A	T	16: 45,892,162 (GRCm39)	N275K	possibly damaging	Het
Col22a1	A	G	15: 71,732,807 (GRCm39)		probably null	Het
Cyb561	T	C	11: 105,826,662 (GRCm39)	H197R	probably damaging	Het
Dlgap1	T	C	17: 70,823,080 (GRCm39)	S22P	probably benign	Het
Dnajc6	A	G	4: 101,365,286 (GRCm39)		probably benign	Het
Fgf6	A	T	6: 127,001,048 (GRCm39)	K185N	possibly damaging	Het
Fshr	T	C	17: 89,293,619 (GRCm39)	N353S	probably damaging	Het
Gabbr1	T	A	17: 37,359,335 (GRCm39)	Y103*	probably null	Het
Gm7247	G	A	14: 51,760,962 (GRCm39)	C177Y	possibly damaging	Het
Hikeshi	A	G	7: 89,584,989 (GRCm39)	F72L	probably damaging	Het
Ikzf4	T	C	10: 128,470,416 (GRCm39)	E368G	probably benign	Het
Kdm3b	A	G	18: 34,942,462 (GRCm39)	E851G	probably benign	Het
Kif3b	A	G	2: 153,159,051 (GRCm39)	D284G	probably damaging	Het
Kyat3	G	A	3: 142,440,235 (GRCm39)	A320T	probably benign	Het
Mok	C	T	12: 110,774,631 (GRCm39)		probably benign	Het
Mrgpra3	A	G	7: 47,239,267 (GRCm39)	F220L	probably benign	Het
Nr4a1	T	C	15: 101,168,780 (GRCm39)	V272A	probably damaging	Het
Or10ag58	A	G	2: 87,265,407 (GRCm39)	H192R	probably benign	Het
Or2ag19	A	G	7: 106,444,574 (GRCm39)	Y252C	possibly damaging	Het
Pikfyve	T	A	1: 65,299,280 (GRCm39)		probably null	Het
Plekhn1	T	G	4: 156,307,820 (GRCm39)	T369P	probably damaging	Het
Ptpn12	T	C	5: 21,234,848 (GRCm39)	E45G	probably damaging	Het
Ralgps1	A	T	2: 33,027,694 (GRCm39)	*516R	probably null	Het
Rps23rg1	A	G	8: 3,633,904 (GRCm39)	T2A	probably benign	Het
Senp6	A	G	9: 80,023,892 (GRCm39)	D385G	probably damaging	Het
Siglech	T	C	7: 55,422,339 (GRCm39)		probably benign	Het
Slit1	A	G	19: 41,639,274 (GRCm39)	L212P	probably damaging	Het
Smchd1	T	A	17: 71,772,668 (GRCm39)		probably benign	Het
Snapc4	A	T	2: 26,259,324 (GRCm39)	C609S	probably benign	Het
Strn3	T	C	12: 51,707,979 (GRCm39)	T139A	possibly damaging	Het
Tlr3	A	G	8: 45,853,727 (GRCm39)	S198P	probably damaging	Het
Ttn	C	T	2: 76,720,823 (GRCm39)		probably benign	Het
Vil1	G	A	1: 74,463,034 (GRCm39)	E406K	probably damaging	Het
Zfp462	A	G	4: 55,011,483 (GRCm39)		probably null	Het
Zfyve9	A	G	4: 108,499,304 (GRCm39)	V1338A	possibly damaging	Het

Other mutations in Tcaf3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00931:Tcaf3	APN	6	42,574,162 (GRCm39)	missense	probably benign	0.16
IGL01391:Tcaf3	APN	6	42,570,615 (GRCm39)	missense	probably damaging	1.00
IGL01804:Tcaf3	APN	6	42,574,063 (GRCm39)	missense	probably damaging	1.00
IGL02272:Tcaf3	APN	6	42,573,594 (GRCm39)	missense	probably damaging	0.98
IGL02934:Tcaf3	APN	6	42,570,832 (GRCm39)	missense	probably benign	0.00
IGL03258:Tcaf3	APN	6	42,566,773 (GRCm39)	missense	probably damaging	1.00
defused	UTSW	6	42,573,867 (GRCm39)	missense	probably benign	0.03
R0116:Tcaf3	UTSW	6	42,568,284 (GRCm39)	missense	probably benign	0.12
R0135:Tcaf3	UTSW	6	42,566,692 (GRCm39)	missense	probably benign
R0357:Tcaf3	UTSW	6	42,566,761 (GRCm39)	missense	probably damaging	0.98
R0526:Tcaf3	UTSW	6	42,566,738 (GRCm39)	missense	probably damaging	1.00
R0592:Tcaf3	UTSW	6	42,573,777 (GRCm39)	missense	probably benign	0.16
R1185:Tcaf3	UTSW	6	42,568,368 (GRCm39)	missense	probably damaging	1.00
R1185:Tcaf3	UTSW	6	42,568,368 (GRCm39)	missense	probably damaging	1.00
R1185:Tcaf3	UTSW	6	42,568,368 (GRCm39)	missense	probably damaging	1.00
R1902:Tcaf3	UTSW	6	42,570,486 (GRCm39)	missense	possibly damaging	0.83
R1912:Tcaf3	UTSW	6	42,573,622 (GRCm39)	missense	possibly damaging	0.59
R2020:Tcaf3	UTSW	6	42,570,658 (GRCm39)	missense	possibly damaging	0.66
R2238:Tcaf3	UTSW	6	42,570,262 (GRCm39)	missense	probably benign	0.00
R2259:Tcaf3	UTSW	6	42,568,364 (GRCm39)	missense	possibly damaging	0.53
R2436:Tcaf3	UTSW	6	42,570,663 (GRCm39)	missense	probably damaging	1.00
R3005:Tcaf3	UTSW	6	42,570,978 (GRCm39)	missense	probably damaging	1.00
R3402:Tcaf3	UTSW	6	42,570,787 (GRCm39)	missense	probably benign	0.08
R3753:Tcaf3	UTSW	6	42,566,738 (GRCm39)	missense	probably damaging	1.00
R3799:Tcaf3	UTSW	6	42,574,014 (GRCm39)	missense	probably damaging	1.00
R4515:Tcaf3	UTSW	6	42,566,930 (GRCm39)	missense	probably damaging	1.00
R4640:Tcaf3	UTSW	6	42,564,513 (GRCm39)	missense	probably damaging	0.96
R4688:Tcaf3	UTSW	6	42,570,300 (GRCm39)	splice site	probably null
R4904:Tcaf3	UTSW	6	42,570,931 (GRCm39)	nonsense	probably null
R5030:Tcaf3	UTSW	6	42,573,867 (GRCm39)	missense	probably benign	0.03
R5031:Tcaf3	UTSW	6	42,573,867 (GRCm39)	missense	probably benign	0.03
R5045:Tcaf3	UTSW	6	42,570,618 (GRCm39)	missense	possibly damaging	0.55
R5105:Tcaf3	UTSW	6	42,568,259 (GRCm39)	missense	probably damaging	1.00
R5139:Tcaf3	UTSW	6	42,573,867 (GRCm39)	missense	probably benign	0.03
R5187:Tcaf3	UTSW	6	42,573,954 (GRCm39)	missense	possibly damaging	0.51
R5196:Tcaf3	UTSW	6	42,570,649 (GRCm39)	missense	probably benign	0.00
R5213:Tcaf3	UTSW	6	42,568,401 (GRCm39)	missense	probably damaging	1.00
R5296:Tcaf3	UTSW	6	42,564,444 (GRCm39)	missense	possibly damaging	0.55
R5402:Tcaf3	UTSW	6	42,568,860 (GRCm39)	missense	probably benign	0.12
R5425:Tcaf3	UTSW	6	42,573,697 (GRCm39)	missense	probably damaging	1.00
R5431:Tcaf3	UTSW	6	42,574,119 (GRCm39)	missense	probably damaging	1.00
R5601:Tcaf3	UTSW	6	42,564,462 (GRCm39)	missense	possibly damaging	0.90
R5839:Tcaf3	UTSW	6	42,570,783 (GRCm39)	missense	possibly damaging	0.55
R5865:Tcaf3	UTSW	6	42,573,631 (GRCm39)	missense	probably benign	0.07
R6005:Tcaf3	UTSW	6	42,566,905 (GRCm39)	missense	probably benign	0.19
R6270:Tcaf3	UTSW	6	42,570,725 (GRCm39)	missense	probably benign	0.00
R6341:Tcaf3	UTSW	6	42,574,193 (GRCm39)	missense	possibly damaging	0.55
R6344:Tcaf3	UTSW	6	42,574,105 (GRCm39)	missense	possibly damaging	0.48
R6521:Tcaf3	UTSW	6	42,570,172 (GRCm39)	missense	probably damaging	0.99
R6589:Tcaf3	UTSW	6	42,570,995 (GRCm39)	missense	possibly damaging	0.55
R6981:Tcaf3	UTSW	6	42,574,059 (GRCm39)	missense	probably damaging	1.00
R7155:Tcaf3	UTSW	6	42,570,825 (GRCm39)	missense	probably benign
R7185:Tcaf3	UTSW	6	42,570,864 (GRCm39)	missense	probably benign	0.01
R7262:Tcaf3	UTSW	6	42,570,735 (GRCm39)	missense	probably damaging	0.97
R7340:Tcaf3	UTSW	6	42,566,848 (GRCm39)	missense	probably benign	0.08
R7421:Tcaf3	UTSW	6	42,573,776 (GRCm39)	missense	probably benign	0.02
R7690:Tcaf3	UTSW	6	42,574,069 (GRCm39)	missense	probably damaging	1.00
R7850:Tcaf3	UTSW	6	42,571,140 (GRCm39)	splice site	probably null
R7909:Tcaf3	UTSW	6	42,568,898 (GRCm39)	missense	possibly damaging	0.92
R9419:Tcaf3	UTSW	6	42,573,716 (GRCm39)	missense	probably benign	0.00
R9440:Tcaf3	UTSW	6	42,573,906 (GRCm39)	nonsense	probably null
R9469:Tcaf3	UTSW	6	42,573,828 (GRCm39)	missense	probably benign	0.00
R9668:Tcaf3	UTSW	6	42,566,636 (GRCm39)	missense	probably damaging	1.00
R9787:Tcaf3	UTSW	6	42,574,024 (GRCm39)	missense	probably benign	0.00

Posted On

2011-07-12