Mutagenetix > Incidental Mutation

Incidental Mutation 'R8194:Tcaf1'

635338

Institutional Source

Beutler Lab

Gene Symbol

Tcaf1

Ensembl Gene

ENSMUSG00000036667

Gene Name

TRPM8 channel-associated factor 1

Synonyms

A230020K05Rik, 2810407D09Rik, Fam115a, 3321401G04Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R8194 (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 42675302 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 749 (T749A)

Ref Sequence

ENSEMBL: ENSMUSP00000046137 (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: T749A

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000046137
Gene: ENSMUSG00000036667
AA Change: T749A

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: T749A

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000036379
Gene: ENSMUSG00000036667
AA Change: T749A

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: T749A

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000114036
Gene: ENSMUSG00000036667
AA Change: T749A

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: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.1%

Validation Efficiency

100% (51/51)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arid4a	T	A	12: 71,060,115	Y320*	probably null	Het
Ash1l	T	A	3: 89,052,755	C2265S	probably damaging	Het
Atg4b	T	A	1: 93,785,972	C55*	probably null	Het
Cacna1s	A	T	1: 136,077,692	N405I	probably benign	Het
Capn11	A	T	17: 45,633,399	D526E	probably damaging	Het
Ccdc188	A	G	16: 18,218,380	R71G	probably benign	Het
Ccser2	G	A	14: 36,896,263	R772W	probably damaging	Het
Cenpf	T	A	1: 189,682,403	E172D	probably benign	Het
Cep85	T	C	4: 134,134,089	M627V	probably null	Het
Chd1	G	A	17: 17,374,475		probably benign	Het
Cnst	A	G	1: 179,610,194	H441R	probably benign	Het
Cyp2d11	G	T	15: 82,390,437	T313N	probably damaging	Het
Cyp2g1	A	G	7: 26,814,734	N255S	possibly damaging	Het
Dnah5	A	G	15: 28,453,268	D4395G	probably damaging	Het
Fam83h	ACTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGT	ACTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGT	15: 76,002,775		probably benign	Het
Fcnb	C	T	2: 28,078,318	S209N	possibly damaging	Het
Gpsm1	CT	CTT	2: 26,327,352		probably null	Het
Lama4	A	G	10: 39,078,720	S1090G	probably damaging	Het
Malrd1	A	G	2: 15,925,120	D1479G	unknown	Het
Man2a2	T	C	7: 80,361,018	K742E	probably benign	Het
Mapk8	A	T	14: 33,382,284	S392T	probably benign	Het
Mark3	T	C	12: 111,592,683	I53T	probably damaging	Het
Mcmdc2	A	G	1: 9,916,642	I219V	probably benign	Het
Mlycd	A	T	8: 119,407,593	E278V	probably benign	Het
Muc2	G	T	7: 141,704,252	C29F		Het
Mup20	T	C	4: 62,053,484	I77V	probably benign	Het
Myh3	A	G	11: 67,092,002	E849G	probably damaging	Het
Nedd4	A	G	9: 72,686,107	N154S	probably damaging	Het
Olfr397	A	T	11: 73,965,414	I269F	probably benign	Het
Pcdh7	A	T	5: 57,720,336	N411I	probably damaging	Het
Plekhm1	A	G	11: 103,395,060	I183T	possibly damaging	Het
Prkar2a	G	A	9: 108,692,511	V19M	probably damaging	Het
Prss35	T	G	9: 86,755,613	N145K	possibly damaging	Het
Ranbp2	T	A	10: 58,455,925	D251E	possibly damaging	Het
Rnf169	C	A	7: 99,926,444	V315F	probably damaging	Het
Slc32a1	T	C	2: 158,613,841	Y139H	probably damaging	Het
Slc5a2	T	C	7: 128,271,156	V522A	probably benign	Het
Slc6a6	A	T	6: 91,740,971	Q297L	probably damaging	Het
Sos2	A	C	12: 69,598,824	Y914D	probably damaging	Het
Spata1	G	T	3: 146,489,859	T32N	possibly damaging	Het
Srcap	C	T	7: 127,539,197	R1180C	probably damaging	Het
St14	A	T	9: 31,131,625	M1K	probably null	Het
Tcp1	T	C	17: 12,922,734		probably null	Het
Tle6	A	G	10: 81,591,054	V576A	probably damaging	Het
Ttc25	G	A	11: 100,563,676	G429E	probably benign	Het
Usp17lc	T	A	7: 103,418,200	M234K	probably benign	Het
Washc4	A	G	10: 83,580,299	I818V	possibly damaging	Het
Zdhhc18	A	G	4: 133,613,854	L236P	probably damaging	Het
Zfp266	T	C	9: 20,500,314	D189G	probably benign	Het
Zfp474	A	T	18: 52,639,157	D294V	probably damaging	Het
Zfp568	T	C	7: 30,023,333	F568L	probably damaging	Het
Zfp93	A	G	7: 24,276,054	K488R	probably benign	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
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
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'- GGAGGCCATAGCGCAATAT -3'
(R):5'- CGGTCCAGATGTGGTGATGAG -3'

Sequencing Primer
(F):5'- GCAATATTGGCACGGCTTC -3'
(R):5'- ATGATCTGCAAGTTCCCAAGTC -3'

Posted On

2020-07-13