Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02133:Tcaf2'

281085

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tcaf2

Ensembl Gene

ENSMUSG00000029851

Gene Name

TRPM8 channel-associated factor 2

Synonyms

Fam115c

Accession Numbers

Ncbi RefSeq: NM_146174.1; MGI:2385258

Is this an essential gene?

Probably non essential (E-score: 0.100) question?

Stock #

IGL02133

Quality Score

Status

Chromosome

Chromosomal Location

42623016-42645254 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 42627396 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 683 (E683V)

Ref Sequence

ENSEMBL: ENSMUSP00000031879 (fasta)

Gene Model

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

AlphaFold

Q921K8

Predicted Effect

probably benign
Transcript: ENSMUST00000031879
AA Change: E683V

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000031879
Gene: ENSMUSG00000029851
AA Change: E683V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131341

Coding Region Coverage

Validation Efficiency

Allele List at MGI

All alleles(1) : Targeted(1)

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011H14Rik	T	A	14: 49,232,967	Q165L	probably benign	Het
9530068E07Rik	G	T	11: 52,403,510	A193S	probably damaging	Het
Adam4	A	G	12: 81,420,029	V606A	probably benign	Het
Atp2c2	A	G	8: 119,754,335	I821V	probably benign	Het
Bmi1	A	T	2: 18,683,677	R160W	probably damaging	Het
Ccdc88c	G	A	12: 100,940,090	R1062C	probably damaging	Het
Cntnap3	A	T	13: 64,751,673		probably benign	Het
Col20a1	C	T	2: 181,007,144	T940I	probably damaging	Het
Csmd3	A	C	15: 47,857,942	M1535R	possibly damaging	Het
Dhx38	C	A	8: 109,558,241	E487*	probably null	Het
Fam186b	A	G	15: 99,273,703	S888P	probably damaging	Het
Fancm	G	A	12: 65,106,475	G1235D	probably benign	Het
Grin3a	C	T	4: 49,792,946	W262*	probably null	Het
Gtdc1	A	T	2: 44,575,443	M305K	probably damaging	Het
H2-M9	T	C	17: 36,641,737	E139G	possibly damaging	Het
Haus1	A	T	18: 77,766,911	L53Q	probably damaging	Het
Hgfac	A	G	5: 35,046,587	Y483C	probably damaging	Het
Hipk2	C	T	6: 38,819,134	V67I	probably benign	Het
Kbtbd8	T	C	6: 95,121,732		probably benign	Het
Kndc1	A	G	7: 139,920,767	T683A	probably benign	Het
Ldhb	A	T	6: 142,492,500	M277K	probably benign	Het
Mgam	T	C	6: 40,643,076	L33P	probably damaging	Het
Ndst1	A	G	18: 60,699,546	F571L	probably benign	Het
Neb	G	T	2: 52,212,804		probably null	Het
Nrxn1	A	G	17: 90,643,243	S503P	probably damaging	Het
Paqr3	A	G	5: 97,095,931	V308A	probably benign	Het
Scnn1g	T	C	7: 121,743,699	F292L	probably damaging	Het
Stk3	A	G	15: 35,099,516	F88S	probably damaging	Het
Tprkb	T	C	6: 85,927,911	V123A	probably benign	Het
Ush2a	T	C	1: 188,443,343	Y1213H	probably damaging	Het
Vwa5b1	A	G	4: 138,586,557		probably null	Het
Wls	A	G	3: 159,897,370	Y140C	probably damaging	Het
Zan	A	G	5: 137,411,498	S28P	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
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
R5975:Tcaf2	UTSW	6	42642778	missense	probably benign	0.22
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

Posted On

2015-04-16