Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01090:Tcaf1'

51290

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tcaf1

Ensembl Gene

ENSMUSG00000036667

Gene Name

TRPM8 channel-associated factor 1

Synonyms

A230020K05Rik, 2810407D09Rik, Fam115a, 3321401G04Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.149) question?

Stock #

IGL01090

Quality Score

Status

Chromosome

Chromosomal Location

42668002-42710088 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 42686622 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 108 (C108F)

Ref Sequence

ENSEMBL: ENSMUSP00000114036 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045054] [ENSMUST00000045140] [ENSMUST00000121083]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000045054
AA Change: C108F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000046137
Gene: ENSMUSG00000036667
AA Change: C108F

Domain	Start	End	E-Value	Type
internal_repeat_1	14	197	6.95e-30	PROSPERO
low complexity region	207	221	N/A	INTRINSIC
internal_repeat_1	222	406	6.95e-30	PROSPERO
low complexity region	463	474	N/A	INTRINSIC
M60-like	542	841	1.94e-128	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000045140
AA Change: C108F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000036379
Gene: ENSMUSG00000036667
AA Change: C108F

Domain	Start	End	E-Value	Type
internal_repeat_1	14	197	6.95e-30	PROSPERO
low complexity region	207	221	N/A	INTRINSIC
internal_repeat_1	222	406	6.95e-30	PROSPERO
low complexity region	463	474	N/A	INTRINSIC
M60-like	542	841	1.94e-128	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000121083
AA Change: C108F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000114036
Gene: ENSMUSG00000036667
AA Change: C108F

Domain	Start	End	E-Value	Type
internal_repeat_1	14	197	6.95e-30	PROSPERO
low complexity region	207	221	N/A	INTRINSIC
internal_repeat_1	222	406	6.95e-30	PROSPERO
low complexity region	463	474	N/A	INTRINSIC
M60-like	542	841	1.94e-128	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141794

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151021

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152100

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000165486

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	T	C	6: 91,919,118	S316P	possibly damaging	Het
Actn1	A	T	12: 80,199,072		probably null	Het
Agbl3	T	C	6: 34,799,887	Y443H	probably benign	Het
Akap13	T	A	7: 75,666,531	D578E	probably benign	Het
Aldoa	A	T	7: 126,796,035	H292Q	probably benign	Het
Als2	T	C	1: 59,215,616	K194R	possibly damaging	Het
Bivm	C	A	1: 44,129,291	H244N	probably damaging	Het
Cabp5	G	A	7: 13,405,487	E146K	probably damaging	Het
Cfap206	C	T	4: 34,721,562	S162N	probably damaging	Het
Clcn4	A	G	7: 7,294,036	V129A	probably benign	Het
Clec4g	A	G	8: 3,719,482	S54P	probably damaging	Het
Crim1	G	T	17: 78,347,229	V645L	probably damaging	Het
Csta1	T	C	16: 36,125,051	T31A	probably damaging	Het
D930048N14Rik	T	C	11: 51,653,783		probably benign	Het
Dhx34	G	T	7: 16,216,256	P329Q	probably damaging	Het
Dusp16	T	C	6: 134,725,949	N193S	probably benign	Het
Fbn1	A	G	2: 125,394,776		probably benign	Het
Fbxo46	A	G	7: 19,136,803	Y449C	probably damaging	Het
Fmo4	C	A	1: 162,809,785		probably null	Het
Foxi3	C	A	6: 70,960,745	N320K	probably damaging	Het
Gm9964	A	G	11: 79,296,384	L79P	unknown	Het
Gpr161	T	C	1: 165,306,580	I137T	probably damaging	Het
Herc1	C	T	9: 66,469,175	Q3426*	probably null	Het
Hps5	C	T	7: 46,788,327	R108H	probably benign	Het
Itch	T	A	2: 155,206,336	V540E	probably damaging	Het
L3mbtl1	C	A	2: 162,966,005	P520H	probably damaging	Het
Mvp	A	G	7: 126,989,687	V636A	probably benign	Het
Odf4	A	G	11: 68,921,952		probably benign	Het
Olfr830	A	G	9: 18,876,242	K305R	probably benign	Het
Pld1	T	C	3: 28,088,667	S675P	probably benign	Het
Plod3	A	G	5: 136,990,236	D325G	probably benign	Het
Prss12	T	C	3: 123,482,739	V339A	possibly damaging	Het
Ptpn13	T	A	5: 103,541,314	L991Q	probably null	Het
Ptpn3	T	A	4: 57,240,833	I261F	probably damaging	Het
Rab3gap1	T	C	1: 127,930,387		probably benign	Het
Rasa4	A	G	5: 136,101,993	R373G	possibly damaging	Het
Rmi1	T	C	13: 58,409,394	S486P	probably damaging	Het
Slc25a23	A	G	17: 57,047,233	I139T	probably benign	Het
Sspo	T	A	6: 48,490,125	S4017T	probably benign	Het
Tnc	T	C	4: 64,000,080	Q1198R	probably damaging	Het
Tnni3k	G	T	3: 154,939,683	Q522K	possibly damaging	Het
Trio	T	A	15: 27,773,007	E713V	probably damaging	Het
Ugt2b34	C	A	5: 86,893,820	V338F	probably damaging	Het
Usp40	T	A	1: 87,962,465	M892L	probably benign	Het
Usp54	A	T	14: 20,586,157		probably benign	Het
Vmn2r53	T	C	7: 12,600,908	E275G	possibly damaging	Het
Vmn2r87	A	G	10: 130,497,378	M1T	probably null	Het
Wdr66	A	C	5: 123,279,989		probably benign	Het
Wdr83os	A	T	8: 85,081,847	D76V	probably damaging	Het

Other mutations in Tcaf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02415:Tcaf1	APN	6	42686650	missense	probably benign	0.00
IGL02504:Tcaf1	APN	6	42679279	missense	probably benign	0.05
IGL02960:Tcaf1	APN	6	42686459	missense	probably benign
IGL03022:Tcaf1	APN	6	42678126	nonsense	probably null
PIT4696001:Tcaf1	UTSW	6	42678539	missense	probably benign	0.00
R0103:Tcaf1	UTSW	6	42686390	missense	probably benign	0.23
R0103:Tcaf1	UTSW	6	42686390	missense	probably benign	0.23
R0586:Tcaf1	UTSW	6	42673539	missense	probably damaging	1.00
R0717:Tcaf1	UTSW	6	42678665	missense	probably benign	0.01
R0724:Tcaf1	UTSW	6	42675367	missense	probably damaging	1.00
R1166:Tcaf1	UTSW	6	42678678	missense	probably benign
R1472:Tcaf1	UTSW	6	42686448	missense	possibly damaging	0.83
R1538:Tcaf1	UTSW	6	42678989	missense	probably damaging	1.00
R1721:Tcaf1	UTSW	6	42675338	missense	possibly damaging	0.90
R1776:Tcaf1	UTSW	6	42678455	missense	possibly damaging	0.90
R2136:Tcaf1	UTSW	6	42673520	missense	probably benign	0.01
R3433:Tcaf1	UTSW	6	42686574	missense	probably damaging	0.98
R3951:Tcaf1	UTSW	6	42679059	missense	probably benign	0.14
R4472:Tcaf1	UTSW	6	42679314	missense	probably benign
R4740:Tcaf1	UTSW	6	42686875	missense	probably benign
R4915:Tcaf1	UTSW	6	42675196	missense	probably damaging	1.00
R5249:Tcaf1	UTSW	6	42676859	missense	probably benign	0.00
R5340:Tcaf1	UTSW	6	42678989	missense	probably damaging	1.00
R5458:Tcaf1	UTSW	6	42686542	missense	probably benign
R6196:Tcaf1	UTSW	6	42676807	missense	probably damaging	1.00
R6772:Tcaf1	UTSW	6	42675276	missense	probably damaging	1.00
R7066:Tcaf1	UTSW	6	42679177	missense	probably damaging	1.00
R7145:Tcaf1	UTSW	6	42686753	missense	probably damaging	1.00
R7204:Tcaf1	UTSW	6	42675039	splice site	probably null
R7529:Tcaf1	UTSW	6	42675355	missense	probably damaging	1.00
R7554:Tcaf1	UTSW	6	42677454	missense	probably benign	0.13
R7813:Tcaf1	UTSW	6	42673429	nonsense	probably null
R8191:Tcaf1	UTSW	6	42675256	missense	probably damaging	1.00
R8194:Tcaf1	UTSW	6	42675302	missense	probably benign	0.06
R8532:Tcaf1	UTSW	6	42678131	missense	probably damaging	0.96
R8784:Tcaf1	UTSW	6	42679287	missense	probably benign
R8801:Tcaf1	UTSW	6	42686808	missense	probably damaging	1.00
R8945:Tcaf1	UTSW	6	42686373	missense	probably benign	0.00
R8989:Tcaf1	UTSW	6	42686773	missense	probably damaging	1.00
R9076:Tcaf1	UTSW	6	42677438	missense	probably benign	0.01
R9260:Tcaf1	UTSW	6	42686620	missense	possibly damaging	0.50
R9321:Tcaf1	UTSW	6	42679356	missense	probably benign	0.00
RF013:Tcaf1	UTSW	6	42679173	missense	probably benign	0.04
Z1177:Tcaf1	UTSW	6	42673477	missense	probably benign	0.43

Posted On

2013-06-21