Mutagenetix > Incidental Mutations

Incidental Mutation 'PIT4696001:Tcaf1'

556785

Institutional Source

Beutler Lab

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: 0.096) question?

Stock #

PIT4696001 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

42668002-42710088 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 42678539 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 501 (H501R)

Ref Sequence

ENSEMBL: ENSMUSP00000046137 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000045054
AA Change: H501R

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000046137
Gene: ENSMUSG00000036667
AA Change: H501R

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: H501R

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000036379
Gene: ENSMUSG00000036667
AA Change: H501R

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: H501R

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000114036
Gene: ENSMUSG00000036667
AA Change: H501R

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

Coding Region Coverage

1x: 93.5%
3x: 91.0%
10x: 86.2%
20x: 75.9%

Validation Efficiency

100% (57/57)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm3	G	A	7: 119,784,986		probably null	Het
Adam20	T	A	8: 40,794,948	Y32N	probably benign	Het
Adm	T	C	7: 110,628,289	V4A	probably benign	Het
Anpep	G	A	7: 79,839,464	T320I	possibly damaging	Het
Atp8b1	T	C	18: 64,539,270	S1008G	possibly damaging	Het
B9d1	T	A	11: 61,505,243	M12K	possibly damaging	Het
Cad	T	C	5: 31,072,094	L1435P	probably damaging	Het
Cat	T	C	2: 103,471,812	D180G	probably damaging	Het
Cntln	C	T	4: 84,974,000	T374M	probably damaging	Het
Cyp2a5	G	A	7: 26,840,979	R339Q	probably benign	Het
Defa22	T	C	8: 21,162,336	L6P	probably damaging	Het
Dr1	T	A	5: 108,269,738	I50K	probably damaging	Het
Eln	C	T	5: 134,737,178	G57E	unknown	Het
Fat4	T	C	3: 38,889,004	I682T	probably benign	Het
Fat4	C	A	3: 38,982,357	A3386E	probably damaging	Het
Fcgr3	T	A	1: 171,057,750	Y102F	probably damaging	Het
Gm5930	A	T	14: 44,336,536	L115M	probably damaging	Het
Herc1	T	A	9: 66,479,009	V3748D	probably damaging	Het
Ino80d	A	G	1: 63,085,986	S106P	probably benign	Het
Kcns3	C	T	12: 11,092,748		probably benign	Het
Kndc1	T	A	7: 139,932,917	L1527Q	probably damaging	Het
Lepr	T	G	4: 101,779,983	S690A	probably benign	Het
Lrfn5	T	C	12: 61,843,557	F544S	probably damaging	Het
Mapkap1	C	A	2: 34,619,849	H450Q	probably damaging	Het
Mdm1	A	G	10: 118,158,540	T485A	probably benign	Het
Megf10	T	C	18: 57,277,688	C690R	probably damaging	Het
Myo7a	A	G	7: 98,063,599	M1723T	probably benign	Het
Nrip3	A	T	7: 109,765,507	C137*	probably null	Het
Olfr153	T	A	2: 87,532,780	I249N	probably damaging	Het
Pde4a	T	A	9: 21,211,001	M731K	probably benign	Het
Pebp1	A	G	5: 117,283,462	L117P	probably damaging	Het
Phc2	T	C	4: 128,705,202	Y51H	probably damaging	Het
Ppp2r5b	A	G	19: 6,234,683	F50S	probably benign	Het
Prpf4b	A	G	13: 34,899,842	S865G	probably benign	Het
Ptpn5	C	T	7: 47,088,606	V243M	probably benign	Het
Rora	T	C	9: 69,364,559	L273P	possibly damaging	Het
Rtp4	T	A	16: 23,613,454	S245R	probably benign	Het
Scgb2b20	C	T	7: 33,364,560	G95D	probably benign	Het
Sec24b	A	G	3: 129,994,391	V820A	probably benign	Het
Sim2	A	G	16: 94,094,309	D62G	possibly damaging	Het
Slc17a4	A	T	13: 23,900,514	V429D	probably benign	Het
Sp2	T	C	11: 96,961,973	T42A	probably damaging	Het
Spata3	G	A	1: 86,024,447	R141Q	unknown	Het
Sptbn2	A	T	19: 4,745,577	E1658D	probably benign	Het
Tec	G	A	5: 72,773,835	T262M	possibly damaging	Het
Timm9	A	T	12: 71,125,531	N22K	possibly damaging	Het
Tln1	C	T	4: 43,542,701		probably null	Het
Tmbim4	A	G	10: 120,217,624	I109M	probably benign	Het
Tmc7	T	C	7: 118,564,343	K110E	probably benign	Het
Tmem107	C	T	11: 69,072,573	P136L	probably benign	Het
Ttc21b	T	C	2: 66,231,219		probably null	Het
Ubd	A	C	17: 37,195,444	T74P	probably damaging	Het
Vps11	A	G	9: 44,358,189	V255A	possibly damaging	Het
Vsnl1	T	C	12: 11,326,447	T146A	probably benign	Het
Wdr38	G	T	2: 38,999,972		probably null	Het
Yes1	T	A	5: 32,684,625	S498T	possibly damaging	Het
Zc3h13	G	A	14: 75,331,883	R1390H	probably damaging	Het
Zscan4b	A	G	7: 10,902,022	V126A	possibly damaging	Het

Other mutations in Tcaf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01090:Tcaf1	APN	6	42686622	missense	probably benign
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
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
RF013:Tcaf1	UTSW	6	42679173	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- ACACTGCAGCAGTCTTGTG -3'
(R):5'- TCCAGGTGATAATGGGCAGG -3'

Sequencing Primer
(F):5'- AGCAGTCTTGTGCCCCTG -3'
(R):5'- CCAAGCTAGGCCCAGATG -3'

Posted On

2019-06-07