Mutagenetix > Incidental Mutation

Incidental Mutation 'R9787:Tcaf3'

734396

Institutional Source

Beutler Lab

Gene Symbol

Tcaf3

Ensembl Gene

ENSMUSG00000018656

Gene Name

TRPM8 channel-associated factor 3

Synonyms

Eapa2, Fam115e

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

R9787 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

42584866-42597692 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 42597090 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 63 (V63I)

Ref Sequence

ENSEMBL: ENSMUSP00000064060 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069023] [ENSMUST00000134707]

AlphaFold

Q6QR59

Predicted Effect

probably benign
Transcript: ENSMUST00000069023
AA Change: V63I

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

SMART Domains

Protein: ENSMUSP00000064060
Gene: ENSMUSG00000018656
AA Change: V63I

Domain	Start	End	E-Value	Type
internal_repeat_1	26	194	9.98e-16	PROSPERO
low complexity region	210	221	N/A	INTRINSIC
internal_repeat_1	234	402	9.98e-16	PROSPERO
low complexity region	509	518	N/A	INTRINSIC
M60-like	533	832	3.49e-130	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000134707
AA Change: V63I

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

SMART Domains

Protein: ENSMUSP00000123321
Gene: ENSMUSG00000018656
AA Change: V63I

Domain	Start	End	E-Value	Type
low complexity region	210	221	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.3%
20x: 97.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406B18Rik	T	C	7: 43,501,271	T26A	probably benign	Het
Arhgap27	A	G	11: 103,339,222	S239P	possibly damaging	Het
Bambi	T	C	18: 3,511,515	V112A	possibly damaging	Het
BC034090	T	A	1: 155,242,209	E54D	possibly damaging	Het
BC052040	T	A	2: 115,674,755	L169Q	probably damaging	Het
Chst13	C	T	6: 90,309,092	R296H	probably benign	Het
Clip2	C	T	5: 134,504,762	R487Q	probably benign	Het
Ctbs	T	A	3: 146,454,354	V46E	probably damaging	Het
Cyp2b9	A	G	7: 26,200,834	I356V	probably benign	Het
Dot1l	A	G	10: 80,764,638	T40A	probably benign	Het
Dst	C	T	1: 34,180,443	T1988M	probably benign	Het
Fam184a	T	A	10: 53,750,768	D38V	possibly damaging	Het
Fank1	T	A	7: 133,862,158	F83I	probably damaging	Het
Fto	T	A	8: 91,485,258	W404R	probably damaging	Het
Gabra4	T	A	5: 71,633,661	R279S	possibly damaging	Het
Garem2	C	T	5: 30,114,221	P227L	probably damaging	Het
Gfra4	C	A	2: 131,042,680	M1I	probably null	Het
Gin1	T	A	1: 97,775,486	H11Q	probably damaging	Het
Gli3	G	A	13: 15,725,801	G1258R	probably damaging	Het
Gsx1	T	C	5: 147,189,867	S167P	probably damaging	Het
Gtf2b	AATCATC	AATC	3: 142,771,417		probably benign	Het
Il7	G	A	3: 7,576,111	R82C	probably damaging	Het
Lair1	A	T	7: 4,010,795	V151E	probably damaging	Het
Lpar1	T	C	4: 58,437,349	D360G	probably benign	Het
Malrd1	T	A	2: 15,620,590	N345K	unknown	Het
Mbnl1	T	A	3: 60,595,665	N82K	probably damaging	Het
Mtdh	C	A	15: 34,123,698	T357N	probably benign	Het
Muc6	T	A	7: 141,641,481	K1306*	probably null	Het
Nsd1	T	A	13: 55,313,705	C2685S	probably benign	Het
Olfr2	A	T	7: 107,001,692	L56H	probably damaging	Het
Optn	T	A	2: 5,031,339	Q444L	probably damaging	Het
Pan2	T	A	10: 128,308,354	D157E	probably benign	Het
Pole	G	A	5: 110,318,000		probably null	Het
Stau2	A	T	1: 16,460,371	I108N	unknown	Het
Sugp2	A	G	8: 70,242,778	K134E	probably benign	Het
Tcf7	T	A	11: 52,282,946		probably benign	Het
Ttn	C	T	2: 76,885,013	E7912K	unknown	Het
Tubb2b	T	C	13: 34,128,426	D128G	probably benign	Het
Umodl1	A	T	17: 30,959,350	Q100L	probably damaging	Het
Unc79	T	A	12: 103,146,361	N2230K	probably benign	Het
Zc3hav1l	T	C	6: 38,295,166	T223A	probably benign	Het
Zfhx4	G	A	3: 5,390,446	D1167N	possibly damaging	Het
Zfp36	A	T	7: 28,377,919	L200Q	probably damaging	Het
Zswim9	T	A	7: 13,260,278	L650F	probably damaging	Het

Other mutations in Tcaf3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00162:Tcaf3	APN	6	42593385	missense	probably benign	0.14
IGL00931:Tcaf3	APN	6	42597228	missense	probably benign	0.16
IGL01391:Tcaf3	APN	6	42593681	missense	probably damaging	1.00
IGL01804:Tcaf3	APN	6	42597129	missense	probably damaging	1.00
IGL02272:Tcaf3	APN	6	42596660	missense	probably damaging	0.98
IGL02934:Tcaf3	APN	6	42593898	missense	probably benign	0.00
IGL03258:Tcaf3	APN	6	42589839	missense	probably damaging	1.00
defused	UTSW	6	42596933	missense	probably benign	0.03
R0116:Tcaf3	UTSW	6	42591350	missense	probably benign	0.12
R0135:Tcaf3	UTSW	6	42589758	missense	probably benign
R0357:Tcaf3	UTSW	6	42589827	missense	probably damaging	0.98
R0526:Tcaf3	UTSW	6	42589804	missense	probably damaging	1.00
R0592:Tcaf3	UTSW	6	42596843	missense	probably benign	0.16
R1185:Tcaf3	UTSW	6	42591434	missense	probably damaging	1.00
R1185:Tcaf3	UTSW	6	42591434	missense	probably damaging	1.00
R1185:Tcaf3	UTSW	6	42591434	missense	probably damaging	1.00
R1902:Tcaf3	UTSW	6	42593552	missense	possibly damaging	0.83
R1912:Tcaf3	UTSW	6	42596688	missense	possibly damaging	0.59
R2020:Tcaf3	UTSW	6	42593724	missense	possibly damaging	0.66
R2238:Tcaf3	UTSW	6	42593328	missense	probably benign	0.00
R2259:Tcaf3	UTSW	6	42591430	missense	possibly damaging	0.53
R2436:Tcaf3	UTSW	6	42593729	missense	probably damaging	1.00
R3005:Tcaf3	UTSW	6	42594044	missense	probably damaging	1.00
R3402:Tcaf3	UTSW	6	42593853	missense	probably benign	0.08
R3753:Tcaf3	UTSW	6	42589804	missense	probably damaging	1.00
R3799:Tcaf3	UTSW	6	42597080	missense	probably damaging	1.00
R4515:Tcaf3	UTSW	6	42589996	missense	probably damaging	1.00
R4640:Tcaf3	UTSW	6	42587579	missense	probably damaging	0.96
R4688:Tcaf3	UTSW	6	42593366	splice site	probably null
R4904:Tcaf3	UTSW	6	42593997	nonsense	probably null
R5030:Tcaf3	UTSW	6	42596933	missense	probably benign	0.03
R5031:Tcaf3	UTSW	6	42596933	missense	probably benign	0.03
R5045:Tcaf3	UTSW	6	42593684	missense	possibly damaging	0.55
R5105:Tcaf3	UTSW	6	42591325	missense	probably damaging	1.00
R5139:Tcaf3	UTSW	6	42596933	missense	probably benign	0.03
R5187:Tcaf3	UTSW	6	42597020	missense	possibly damaging	0.51
R5196:Tcaf3	UTSW	6	42593715	missense	probably benign	0.00
R5213:Tcaf3	UTSW	6	42591467	missense	probably damaging	1.00
R5296:Tcaf3	UTSW	6	42587510	missense	possibly damaging	0.55
R5402:Tcaf3	UTSW	6	42591926	missense	probably benign	0.12
R5425:Tcaf3	UTSW	6	42596763	missense	probably damaging	1.00
R5431:Tcaf3	UTSW	6	42597185	missense	probably damaging	1.00
R5601:Tcaf3	UTSW	6	42587528	missense	possibly damaging	0.90
R5839:Tcaf3	UTSW	6	42593849	missense	possibly damaging	0.55
R5865:Tcaf3	UTSW	6	42596697	missense	probably benign	0.07
R6005:Tcaf3	UTSW	6	42589971	missense	probably benign	0.19
R6270:Tcaf3	UTSW	6	42593791	missense	probably benign	0.00
R6341:Tcaf3	UTSW	6	42597259	missense	possibly damaging	0.55
R6344:Tcaf3	UTSW	6	42597171	missense	possibly damaging	0.48
R6521:Tcaf3	UTSW	6	42593238	missense	probably damaging	0.99
R6589:Tcaf3	UTSW	6	42594061	missense	possibly damaging	0.55
R6981:Tcaf3	UTSW	6	42597125	missense	probably damaging	1.00
R7155:Tcaf3	UTSW	6	42593891	missense	probably benign
R7185:Tcaf3	UTSW	6	42593930	missense	probably benign	0.01
R7262:Tcaf3	UTSW	6	42593801	missense	probably damaging	0.97
R7340:Tcaf3	UTSW	6	42589914	missense	probably benign	0.08
R7421:Tcaf3	UTSW	6	42596842	missense	probably benign	0.02
R7690:Tcaf3	UTSW	6	42597135	missense	probably damaging	1.00
R7850:Tcaf3	UTSW	6	42594206	splice site	probably null
R7909:Tcaf3	UTSW	6	42591964	missense	possibly damaging	0.92
R9419:Tcaf3	UTSW	6	42596782	missense	probably benign	0.00
R9440:Tcaf3	UTSW	6	42596972	nonsense	probably null
R9469:Tcaf3	UTSW	6	42596894	missense	probably benign	0.00
R9668:Tcaf3	UTSW	6	42589702	missense	probably damaging	1.00

Predicted Primers

Posted On

2022-11-14