Mutagenetix > Incidental Mutation

Incidental Mutation 'R0103:Tcaf1'

34466

Institutional Source

Beutler Lab

Gene Symbol

Tcaf1

Ensembl Gene

ENSMUSG00000036667

Gene Name

TRPM8 channel-associated factor 1

Synonyms

A230020K05Rik, 2810407D09Rik, Fam115a, 3321401G04Rik

MMRRC Submission

038389-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.213) question?

Stock #

R0103 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

42668002-42710088 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 42686390 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 185 (D185E)

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: D185E

PolyPhen 2 Score 0.235 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000046137
Gene: ENSMUSG00000036667
AA Change: D185E

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: D185E

PolyPhen 2 Score 0.235 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000036379
Gene: ENSMUSG00000036667
AA Change: D185E

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: D185E

PolyPhen 2 Score 0.235 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000114036
Gene: ENSMUSG00000036667
AA Change: D185E

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

Meta Mutation Damage Score

0.0951

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.8%

Validation Efficiency

99% (84/85)

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	C	11: 9,273,951	R443S	probably damaging	Het
Anapc1	T	C	2: 128,680,452		probably benign	Het
Aqr	T	A	2: 114,149,016	I313F	probably damaging	Het
Arfgap3	A	T	15: 83,322,721		probably benign	Het
Asah2	G	T	19: 32,018,977	H374N	probably benign	Het
Avl9	G	T	6: 56,736,483	R242L	probably benign	Het
Ccdc106	C	A	7: 5,057,545	Q35K	probably benign	Het
Ccm2l	G	T	2: 153,067,919	E64*	probably null	Het
Cep85l	A	T	10: 53,278,174	D776E	possibly damaging	Het
Cfap52	T	A	11: 67,925,125	I611F	possibly damaging	Het
Cldn22	C	T	8: 47,824,554	T9M	probably benign	Het
Coa7	T	C	4: 108,338,141	L89P	possibly damaging	Het
Cox7a2l	A	T	17: 83,514,272	Y2N	probably damaging	Het
Ctns	A	C	11: 73,185,311	I299M	probably damaging	Het
Cyp27a1	A	C	1: 74,735,915	E301A	probably benign	Het
Cyp2b13	A	T	7: 26,088,710	K421M	probably damaging	Het
Cyp4f40	G	T	17: 32,676,308	C468F	probably damaging	Het
Cyp4f40	C	A	17: 32,676,309	C468*	probably null	Het
Dcun1d5	G	A	9: 7,188,788	C74Y	probably damaging	Het
Dennd4c	A	G	4: 86,812,446	Y860C	probably benign	Het
Dgkz	T	C	2: 91,934,205	T1028A	probably benign	Het
Dhx58	T	C	11: 100,695,270	T642A	probably damaging	Het
Dlg4	A	G	11: 70,031,193	Y87C	probably damaging	Het
Dnah6	C	T	6: 73,092,172	E2511K	probably damaging	Het
Entpd5	C	A	12: 84,396,943	E9*	probably null	Het
Fbln2	A	C	6: 91,271,550	I1066L	probably benign	Het
Fhl2	C	T	1: 43,153,221	R4H	probably benign	Het
Frmpd1	T	A	4: 45,229,884	I17K	probably damaging	Het
Gbp7	T	A	3: 142,546,538	N627K	probably benign	Het
Gm20388	A	G	8: 122,269,733		probably benign	Het
Gnptab	A	G	10: 88,429,519	Y331C	probably damaging	Het
Hdac4	T	C	1: 91,975,644	E521G	possibly damaging	Het
Hibadh	T	A	6: 52,557,877	M173L	probably benign	Het
Iba57	C	T	11: 59,163,613	A27T	probably benign	Het
Itga1	T	C	13: 115,016,254	I211V	probably benign	Het
Keg1	A	T	19: 12,718,916	I155F	possibly damaging	Het
Krt84	T	C	15: 101,530,236	E272G	probably damaging	Het
Lrp2	C	A	2: 69,477,040	V2892L	probably benign	Het
Ltb	A	G	17: 35,195,040		probably benign	Het
Masp1	G	A	16: 23,458,018	P579L	probably damaging	Het
Mtor	T	A	4: 148,533,902	M1724K	probably benign	Het
Myo3a	T	G	2: 22,544,322		probably benign	Het
Myo9b	C	T	8: 71,323,849		probably benign	Het
Ncor1	G	T	11: 62,343,045	Q444K	possibly damaging	Het
Nek7	A	T	1: 138,544,242	C53*	probably null	Het
Obscn	G	T	11: 59,062,696	Y4044*	probably null	Het
Olfr1458	G	A	19: 13,103,278	R3C	possibly damaging	Het
Pcdh15	A	T	10: 74,210,425	D178V	probably damaging	Het
Pcsk6	T	C	7: 65,929,097		probably benign	Het
Phxr4	T	C	9: 13,431,791		probably benign	Het
Pkhd1	T	A	1: 20,523,359	D1510V	probably benign	Het
Pkhd1l1	T	C	15: 44,597,141	C4249R	probably benign	Het
Plxnb2	A	G	15: 89,161,769	Y968H	possibly damaging	Het
Prpf39	T	C	12: 65,055,283	V378A	possibly damaging	Het
Psd2	A	G	18: 36,004,717	N455S	probably damaging	Het
Ptch2	C	A	4: 117,109,425		probably benign	Het
Rab4b	A	G	7: 27,174,502	I117T	probably benign	Het
Rad9b	A	T	5: 122,331,527	V348E	probably damaging	Het
Rcor1	T	C	12: 111,109,778		probably benign	Het
Rhoc	A	T	3: 104,791,991	E32V	possibly damaging	Het
Rnf40	T	G	7: 127,600,571	V925G	probably damaging	Het
Rptor	G	T	11: 119,884,967	R988L	probably benign	Het
Slc25a32	A	T	15: 39,099,897	Y176*	probably null	Het
Slc7a1	T	A	5: 148,352,426	K4*	probably null	Het
Ss18	A	C	18: 14,679,421	Y38D	probably damaging	Het
Syt4	T	A	18: 31,447,220		probably benign	Het
Taar4	A	T	10: 23,961,406	N305Y	probably damaging	Het
Taar7b	A	T	10: 24,000,294	Y119F	probably benign	Het
Tmem138	T	C	19: 10,574,952	N62S	possibly damaging	Het
Tnfaip2	C	T	12: 111,445,810	T215M	probably benign	Het
Tnfrsf21	C	T	17: 43,038,213	H239Y	probably benign	Het
Tnfrsf25	C	T	4: 152,116,948	P65S	possibly damaging	Het
Trp53bp1	A	T	2: 121,236,759	S495R	possibly damaging	Het
Trpv3	T	C	11: 73,293,979	F597S	probably damaging	Het
Tsc22d4	A	C	5: 137,747,116	M1L	possibly damaging	Het
Ttc39a	A	G	4: 109,421,453		probably null	Het
Ttn	T	G	2: 76,761,226	H21033P	probably damaging	Het
Ugt2a3	A	G	5: 87,336,718	V149A	possibly damaging	Het
Ush2a	T	G	1: 188,319,070	I251R	possibly damaging	Het
Vamp4	T	C	1: 162,589,539	C114R	possibly damaging	Het
Wdr33	T	C	18: 31,833,335	V135A	probably damaging	Het
Zc3h13	T	A	14: 75,330,468	V1067E	probably damaging	Het
Zcwpw1	G	A	5: 137,810,113	W274*	probably null	Het
Zfp219	T	A	14: 52,006,706	H627L	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
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
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'- TGTTAGCCTGGAAGCAACCTGAAG -3'
(R):5'- TCCCCTAACTCAGCCATTGGTGTG -3'

Sequencing Primer
(F):5'- GAAGACAGAATCATGTCAGGTTTTAG -3'
(R):5'- GCACCATTGGTGAAAATTCTCG -3'

Posted On

2013-05-09