Mutagenetix > Incidental Mutation

Incidental Mutation 'R5975:Tcaf2'

471677

Institutional Source

Beutler Lab

Gene Symbol

Tcaf2

Ensembl Gene

ENSMUSG00000029851

Gene Name

TRPM8 channel-associated factor 2

Synonyms

Fam115c

Accession Numbers

Ncbi RefSeq: NM_146174.1; MGI:2385258

Essential gene?

Probably non essential (E-score: 0.193) question?

Stock #

R5975 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

42623016-42645254 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 42642778 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 105 (I105N)

Ref Sequence

ENSEMBL: ENSMUSP00000031879 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031879]

AlphaFold

Q921K8

Predicted Effect

probably benign
Transcript: ENSMUST00000031879
AA Change: I105N

PolyPhen 2 Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000031879
Gene: ENSMUSG00000029851
AA Change: I105N

Domain	Start	End	E-Value	Type
low complexity region	515	526	N/A	INTRINSIC
M60-like	543	842	4.85e-138	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.3%

Validation Efficiency

98% (80/82)

Allele List at MGI

All alleles(1) : Targeted(1)

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	C	T	3: 36,969,221	T2233I	possibly damaging	Het
9430038I01Rik	T	C	7: 137,387,292		probably benign	Het
Abhd14a	A	T	9: 106,443,951		probably null	Het
Actn2	T	C	13: 12,340,497	N2D	probably benign	Het
Adcy9	T	C	16: 4,311,567	E722G	probably damaging	Het
Alox12	C	A	11: 70,242,783	V572L	possibly damaging	Het
Ankrd11	T	C	8: 122,889,749	I2434V	possibly damaging	Het
Anks1	T	A	17: 27,991,447		probably null	Het
Bpifa3	T	A	2: 154,136,321	S148T	probably damaging	Het
Bptf	C	T	11: 107,035,864		probably benign	Het
Cabin1	A	T	10: 75,657,839	L1655H	probably damaging	Het
Ccdc13	G	T	9: 121,827,235	Q171K	probably benign	Het
Ccdc33	T	A	9: 58,117,478	Q155L	possibly damaging	Het
Cckbr	G	A	7: 105,470,619	G280E	probably benign	Het
Cdk11b	G	A	4: 155,648,240		probably benign	Het
Celsr1	G	T	15: 85,919,038		probably null	Het
Cenpj	A	T	14: 56,564,066	I150N	possibly damaging	Het
Cep135	C	A	5: 76,640,890	A1110E	possibly damaging	Het
Chit1	C	A	1: 134,146,626	H224N	probably damaging	Het
Cul5	T	C	9: 53,622,793	R680G	probably damaging	Het
Dhx58	C	A	11: 100,702,209	R224L	probably damaging	Het
Dlx1	C	A	2: 71,531,009	N122K	probably damaging	Het
Dnah5	A	C	15: 28,234,282	D279A	probably damaging	Het
Enpp3	A	G	10: 24,774,842	W799R	probably benign	Het
Ercc5	A	G	1: 44,173,406	T675A	probably benign	Het
Farsa	T	A	8: 84,864,432		probably null	Het
Fbxw15	A	T	9: 109,555,252	V397D	probably damaging	Het
Fcrl5	G	A	3: 87,442,103	V62I	probably benign	Het
Gart	A	G	16: 91,624,336	S815P	probably damaging	Het
Glrx5	A	G	12: 105,040,323	N111S	possibly damaging	Het
Gm10845	A	G	14: 79,863,174		noncoding transcript	Het
Gm11639	A	G	11: 104,687,549		probably benign	Het
Gm8882	A	G	6: 132,362,073	S61P	unknown	Het
Gm9925	T	A	18: 74,065,516		probably benign	Het
Gsdme	T	C	6: 50,227,359	N206S	probably benign	Het
Helz2	T	C	2: 181,231,050	S2459G	probably benign	Het
Hnrnpul1	A	G	7: 25,754,359	S93P	possibly damaging	Het
Ints2	A	T	11: 86,226,748	I716N	possibly damaging	Het
Lmnb2	G	A	10: 80,905,128	Q248*	probably null	Het
Map3k7cl	A	G	16: 87,570,321	I32V	probably benign	Het
Mfsd4b4	A	T	10: 39,892,470	I255N	probably benign	Het
Myh6	A	G	14: 54,950,508	I1163T	probably benign	Het
Nphs1	A	T	7: 30,466,115	T636S	possibly damaging	Het
Ntsr1	T	A	2: 180,500,788	L124Q	probably damaging	Het
Obscn	C	T	11: 59,122,619		probably null	Het
P4ha2	G	A	11: 54,126,412		probably null	Het
Pcdha9	T	A	18: 36,999,111	V411D	probably benign	Het
Pkhd1l1	A	T	15: 44,525,988	I1380F	probably damaging	Het
Plekha1	T	C	7: 130,892,253	V106A	probably benign	Het
Plekhm1	A	T	11: 103,376,691	V818E	possibly damaging	Het
Pprc1	T	G	19: 46,065,370		probably benign	Het
Prmt9	T	C	8: 77,561,018		probably benign	Het
Rab26	T	C	17: 24,530,399	N193D	possibly damaging	Het
Rnf111	A	G	9: 70,429,580	S942P	probably damaging	Het
Scgb2b18	T	C	7: 33,173,225	T52A	probably damaging	Het
Syt3	C	T	7: 44,392,763	Q349*	probably null	Het
Tas2r107	T	C	6: 131,659,780	N102S	probably benign	Het
Tas2r126	T	A	6: 42,435,000	Y156N	possibly damaging	Het
Tet1	A	C	10: 62,879,773	M81R	probably benign	Het
Togaram2	T	C	17: 71,729,205	Y897H	probably damaging	Het
Trerf1	A	T	17: 47,314,271		noncoding transcript	Het
Ttn	G	A	2: 76,761,235	T12703I	probably damaging	Het
Unc79	A	G	12: 103,125,626	K1735E	possibly damaging	Het
Usp54	G	A	14: 20,583,351	T372I	possibly damaging	Het
Wdr24	T	C	17: 25,827,128	S476P	probably benign	Het
Wdr78	G	A	4: 103,049,589	P676S	probably benign	Het
Zbtb1	T	C	12: 76,386,275	I345T	possibly damaging	Het
Zcrb1	T	A	15: 93,395,615	I29L	probably benign	Het
Zfp341	T	A	2: 154,630,441	C315S	probably damaging	Het
Zfp623	C	A	15: 75,948,163	R323S	probably benign	Het
Zfp831	T	A	2: 174,644,092	Y187N	possibly damaging	Het

Other mutations in Tcaf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00333:Tcaf2	APN	6	42630036	nonsense	probably null
IGL00909:Tcaf2	APN	6	42624576	missense	probably damaging	1.00
IGL01448:Tcaf2	APN	6	42630328	missense	probably benign	0.05
IGL01870:Tcaf2	APN	6	42624477	missense	possibly damaging	0.47
IGL02133:Tcaf2	APN	6	42627396	missense	probably benign	0.06
IGL02208:Tcaf2	APN	6	42629086	missense	probably damaging	1.00
IGL02666:Tcaf2	APN	6	42629124	splice site	probably benign
jiaozhi	UTSW	6	42626437	missense	probably damaging	1.00
PIT4260001:Tcaf2	UTSW	6	42642805	missense	probably damaging	0.97
PIT4382001:Tcaf2	UTSW	6	42624366	makesense	probably null
R0029:Tcaf2	UTSW	6	42630159	nonsense	probably null
R0029:Tcaf2	UTSW	6	42630159	nonsense	probably null
R0047:Tcaf2	UTSW	6	42629613	missense	probably benign
R0047:Tcaf2	UTSW	6	42629613	missense	probably benign
R0255:Tcaf2	UTSW	6	42642904	missense	possibly damaging	0.95
R0617:Tcaf2	UTSW	6	42642511	missense	probably damaging	0.97
R1387:Tcaf2	UTSW	6	42624578	missense	probably damaging	1.00
R1523:Tcaf2	UTSW	6	42624451	nonsense	probably null
R1529:Tcaf2	UTSW	6	42629506	missense	probably benign	0.03
R1698:Tcaf2	UTSW	6	42628017	nonsense	probably null
R1992:Tcaf2	UTSW	6	42629857	missense	probably benign
R2065:Tcaf2	UTSW	6	42628047	missense	probably benign	0.12
R2144:Tcaf2	UTSW	6	42642804	missense	probably benign	0.45
R2435:Tcaf2	UTSW	6	42630364	missense	possibly damaging	0.72
R2519:Tcaf2	UTSW	6	42629431	missense	possibly damaging	0.92
R3979:Tcaf2	UTSW	6	42642547	missense	probably damaging	1.00
R4093:Tcaf2	UTSW	6	42642838	missense	probably damaging	1.00
R4532:Tcaf2	UTSW	6	42626437	missense	probably damaging	1.00
R4780:Tcaf2	UTSW	6	42628062	missense	probably damaging	1.00
R4906:Tcaf2	UTSW	6	42629745	missense	probably benign	0.02
R4993:Tcaf2	UTSW	6	42642640	missense	probably damaging	1.00
R5076:Tcaf2	UTSW	6	42629467	missense	probably benign	0.16
R5643:Tcaf2	UTSW	6	42642773	missense	possibly damaging	0.85
R5644:Tcaf2	UTSW	6	42642773	missense	possibly damaging	0.85
R6234:Tcaf2	UTSW	6	42630374	missense	probably benign
R6269:Tcaf2	UTSW	6	42627408	missense	probably damaging	1.00
R6276:Tcaf2	UTSW	6	42629753	missense	probably benign	0.04
R6375:Tcaf2	UTSW	6	42626178	missense	probably damaging	0.99
R6523:Tcaf2	UTSW	6	42643019	missense	probably benign	0.01
R6825:Tcaf2	UTSW	6	42629518	missense	probably benign	0.05
R7039:Tcaf2	UTSW	6	42626140	missense	probably damaging	1.00
R7099:Tcaf2	UTSW	6	42630341	missense	probably benign	0.02
R7284:Tcaf2	UTSW	6	42629538	missense	probably damaging	1.00
R7822:Tcaf2	UTSW	6	42629099	missense	possibly damaging	0.95
R7964:Tcaf2	UTSW	6	42629706	missense	probably benign
R8270:Tcaf2	UTSW	6	42630024	missense	probably benign	0.30
R8505:Tcaf2	UTSW	6	42629541	missense	probably benign	0.18
R8702:Tcaf2	UTSW	6	42642767	missense	probably benign	0.11
R8788:Tcaf2	UTSW	6	42629538	missense	probably damaging	1.00
R8979:Tcaf2	UTSW	6	42624470	missense	probably damaging	1.00
R9374:Tcaf2	UTSW	6	42642794	missense	probably benign	0.02
R9379:Tcaf2	UTSW	6	42642583	missense	probably benign	0.00
Y4339:Tcaf2	UTSW	6	42629472	missense	probably benign
Y4341:Tcaf2	UTSW	6	42629472	missense	probably benign
Z1177:Tcaf2	UTSW	6	42629616	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGAATAGCACCTTGTCACTGC -3'
(R):5'- CCTTCCCAGTGATGGTGAATG -3'

Sequencing Primer
(F):5'- TGTCACTGCCATGCTGACTGG -3'
(R):5'- CTTCCCAGTGATGGTGAATGACAAG -3'

Posted On

2017-03-31