Mutagenetix > Incidental Mutation

Incidental Mutation 'R5139:Tcaf3'

396346

Institutional Source

Beutler Lab

Gene Symbol

Tcaf3

Ensembl Gene

ENSMUSG00000018656

Gene Name

TRPM8 channel-associated factor 3

Synonyms

Eapa2, Fam115e

MMRRC Submission

042725-MU

Accession Numbers

Essential gene?

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

Stock #

R5139 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

42564147-42574306 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 42573867 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 115 (V115A)

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: V115A

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000064060
Gene: ENSMUSG00000018656
AA Change: V115A

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
AA Change: V115A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000123321
Gene: ENSMUSG00000018656
AA Change: V115A

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

Meta Mutation Damage Score

0.0638

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 96.9%
20x: 94.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	T	C	4: 148,029,905 (GRCm39)	L625P	probably damaging	Het
Agtpbp1	A	G	13: 59,648,027 (GRCm39)	S598P	probably damaging	Het
Ahnak	A	C	19: 8,982,019 (GRCm39)	D1101A	probably damaging	Het
Aoah	T	C	13: 21,207,407 (GRCm39)	V542A	possibly damaging	Het
Aox1	T	C	1: 58,100,456 (GRCm39)	S418P	probably benign	Het
Appl1	A	G	14: 26,669,112 (GRCm39)	I354T	probably benign	Het
BC035947	T	C	1: 78,475,884 (GRCm39)	E216G	possibly damaging	Het
Bnip3l	A	G	14: 67,237,064 (GRCm39)	S63P	probably damaging	Het
Cckar	T	C	5: 53,860,265 (GRCm39)	N188S	probably benign	Het
Ccl24	C	T	5: 135,601,775 (GRCm39)	A18T	probably benign	Het
Cmya5	A	G	13: 93,232,569 (GRCm39)	C840R	probably benign	Het
Copa	C	T	1: 171,948,896 (GRCm39)	R1183W	probably damaging	Het
Dnah10	T	C	5: 124,876,024 (GRCm39)	V2621A	probably damaging	Het
Fryl	A	G	5: 73,248,061 (GRCm39)	Y1019H	probably damaging	Het
Hira	T	C	16: 18,773,508 (GRCm39)	Y943H	probably damaging	Het
Ighv3-8	T	C	12: 114,285,994 (GRCm39)	Y116C	probably damaging	Het
Igkv4-70	G	A	6: 69,245,089 (GRCm39)	T44I	probably damaging	Het
Lce3c	G	A	3: 92,852,778 (GRCm39)	G80S	unknown	Het
Ldhb	A	T	6: 142,439,921 (GRCm39)	N206K	probably damaging	Het
Mical1	T	A	10: 41,354,411 (GRCm39)		probably null	Het
Myh2	T	C	11: 67,070,174 (GRCm39)	L402P	probably damaging	Het
Naa15	T	A	3: 51,351,261 (GRCm39)	L144I	probably damaging	Het
Nbea	T	A	3: 55,534,384 (GRCm39)	I2918F	possibly damaging	Het
Or5w11	C	A	2: 87,459,000 (GRCm39)	H64Q	probably benign	Het
Pdcd11	C	A	19: 47,095,554 (GRCm39)	S625R	probably benign	Het
Pdlim7	A	G	13: 55,654,869 (GRCm39)	S214P	probably damaging	Het
Polg	T	C	7: 79,099,773 (GRCm39)	D49G	probably damaging	Het
Polr2f	C	A	15: 79,035,858 (GRCm39)	D106E	possibly damaging	Het
Ppp6r3	A	C	19: 3,514,610 (GRCm39)	N766K	probably damaging	Het
Prl8a1	T	A	13: 27,758,049 (GRCm39)	D220V	probably damaging	Het
Qrfprl	A	T	6: 65,433,203 (GRCm39)	N341I	probably damaging	Het
Septin9	A	G	11: 117,247,511 (GRCm39)	K497E	possibly damaging	Het
Sfswap	T	G	5: 129,648,073 (GRCm39)	M927R	possibly damaging	Het
Smad9	T	G	3: 54,704,827 (GRCm39)	W400G	possibly damaging	Het
St13	G	C	15: 81,283,786 (GRCm39)	R4G	probably benign	Het
Tesmin	A	G	19: 3,456,934 (GRCm39)	I238V	probably damaging	Het
Trf	C	T	9: 103,100,133 (GRCm39)		probably null	Het
Trpc3	A	T	3: 36,725,706 (GRCm39)	M90K	possibly damaging	Het
Tshz3	C	T	7: 36,470,450 (GRCm39)	T813I	probably benign	Het
Tub	T	A	7: 108,610,309 (GRCm39)	M1K	probably null	Het
Wdfy3	A	T	5: 101,997,133 (GRCm39)		probably null	Het
Zfp853	T	C	5: 143,274,570 (GRCm39)	Q350R	unknown	Het

Other mutations in Tcaf3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00162:Tcaf3	APN	6	42,570,319 (GRCm39)	missense	probably benign	0.14
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
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

Predicted Primers

PCR Primer
(F):5'- GAAATATACTCCAGCCACACTTGTC -3'
(R):5'- TGCCTCTTCCTATGGACAAGG -3'

Sequencing Primer
(F):5'- AGCCACACTTGTCACCTGG -3'
(R):5'- TTCCTATGGACAAGGCCGCC -3'

Posted On

2016-06-21