Mutagenetix > Incidental Mutation

Incidental Mutation 'R0724:Tcaf1'

63814

Institutional Source

Beutler Lab

Gene Symbol

Tcaf1

Ensembl Gene

ENSMUSG00000036667

Gene Name

TRPM8 channel-associated factor 1

Synonyms

A230020K05Rik, 2810407D09Rik, Fam115a, 3321401G04Rik

MMRRC Submission

038906-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.145) question?

Stock #

R0724 (G1)

Quality Score

205

Status

Validated

Chromosome

Chromosomal Location

42668002-42710088 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 42675367 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 727 (A727E)

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 damaging
Transcript: ENSMUST00000045054
AA Change: A727E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000046137
Gene: ENSMUSG00000036667
AA Change: A727E

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 damaging
Transcript: ENSMUST00000045140
AA Change: A727E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000036379
Gene: ENSMUSG00000036667
AA Change: A727E

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 damaging
Transcript: ENSMUST00000121083
AA Change: A727E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000114036
Gene: ENSMUSG00000036667
AA Change: A727E

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: ENSMUST00000152100

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000165486

Meta Mutation Damage Score

0.6901

Coding Region Coverage

1x: 99.3%
3x: 98.9%
10x: 97.5%
20x: 95.2%

Validation Efficiency

100% (62/62)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	A	G	5: 145,044,763	E136G	probably benign	Het
Adgre4	T	A	17: 55,852,281	S655R	probably benign	Het
Ak7	T	A	12: 105,710,254	V71E	probably benign	Het
Ank2	C	T	3: 126,962,337	R1077H	probably damaging	Het
Anxa3	A	G	5: 96,828,748	T198A	possibly damaging	Het
Atp1a1	A	T	3: 101,592,439	I109N	possibly damaging	Het
Camta1	A	G	4: 151,077,892	I119T	probably damaging	Het
Carm1	A	G	9: 21,587,374	Y504C	probably damaging	Het
Casp1	C	T	9: 5,303,077	P177L	probably benign	Het
Ccdc122	C	A	14: 77,092,077		probably benign	Het
Ces1a	A	G	8: 93,039,513	S158P	probably damaging	Het
Ces3a	T	A	8: 105,050,195	D103E	possibly damaging	Het
Clstn1	A	C	4: 149,643,624	D583A	possibly damaging	Het
Corin	A	G	5: 72,332,795		probably benign	Het
Cryba1	T	C	11: 77,719,457	D144G	probably damaging	Het
Cwf19l2	G	T	9: 3,421,377		probably null	Het
Dis3l	T	C	9: 64,307,126	T1027A	possibly damaging	Het
Dopey2	A	G	16: 93,762,325	E653G	probably benign	Het
Dst	A	G	1: 34,188,677	I1459V	probably benign	Het
Dyrk3	T	C	1: 131,130,140	T64A	probably benign	Het
Emp2	C	T	16: 10,284,615	C111Y	probably benign	Het
Enam	A	G	5: 88,501,994	Y454C	probably damaging	Het
Fbn1	A	T	2: 125,352,064	C1328S	probably benign	Het
Gata3	T	C	2: 9,874,575	T197A	probably benign	Het
Gm1043	A	G	5: 37,187,229	T212A	probably damaging	Het
Gm15448	T	C	7: 3,816,872	N564S	possibly damaging	Het
H2-Eb1	T	C	17: 34,315,032		probably benign	Het
Hand1	T	C	11: 57,831,680	H36R	probably damaging	Het
Hmgcs2	C	A	3: 98,297,001	Y239*	probably null	Het
Hoxc12	A	G	15: 102,937,055	Y68C	probably damaging	Het
Inpp5a	A	G	7: 139,516,663	I143V	probably benign	Het
Klhdc2	C	A	12: 69,297,048	F18L	probably benign	Het
Kpnb1	T	C	11: 97,178,304	Y251C	probably damaging	Het
Lrch4	A	T	5: 137,637,308	N315I	probably damaging	Het
Map3k10	A	C	7: 27,668,355	V286G	probably damaging	Het
Myo7b	G	A	18: 32,005,549		probably benign	Het
Nlrp2	G	T	7: 5,319,222	L809I	probably damaging	Het
Oacyl	T	C	18: 65,737,825		probably benign	Het
Olfr735	A	G	14: 50,345,917	V175A	possibly damaging	Het
Paxbp1	T	A	16: 91,036,536	D270V	probably damaging	Het
Pdia3	G	A	2: 121,432,377	G275S	probably damaging	Het
Plcb3	G	A	19: 6,963,392	R359C	probably damaging	Het
Plcxd3	G	A	15: 4,516,868	S118N	probably damaging	Het
Ptpn14	T	C	1: 189,850,947	S664P	possibly damaging	Het
Sirt1	T	C	10: 63,323,973	I443V	possibly damaging	Het
Slc7a8	G	A	14: 54,735,186		probably benign	Het
Smim14	A	G	5: 65,453,339		probably benign	Het
Sost	C	T	11: 101,966,918	C19Y	probably benign	Het
Thoc1	T	C	18: 9,963,829	L144P	probably damaging	Het
Tmem132b	A	T	5: 125,783,421	T577S	possibly damaging	Het
Tnfrsf21	C	T	17: 43,038,213	H239Y	probably benign	Het
Tshr	T	C	12: 91,538,286	F666S	probably damaging	Het
Wdr1	A	G	5: 38,540,862	V192A	possibly damaging	Het
Zfp697	T	C	3: 98,428,166	W416R	probably 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
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
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
R9539:Tcaf1	UTSW	6	42678749	missense	probably benign	0.16
R9673:Tcaf1	UTSW	6	42686874	missense	probably benign
RF013:Tcaf1	UTSW	6	42679173	missense	probably benign	0.04
Z1177:Tcaf1	UTSW	6	42673477	missense	probably benign	0.43

Predicted Primers

PCR Primer
(F):5'- CGTAAACACACCACAGGTTGCAC -3'
(R):5'- GGCTACTGGACGCTTTGGAAAAGA -3'

Sequencing Primer
(F):5'- ACGTGGCTTCCGTAGTATG -3'
(R):5'- ttctcccaccccttcctc -3'

Posted On

2013-07-30