Mutagenetix > Incidental Mutation

Incidental Mutation 'R7262:Tcaf3'

564684

Institutional Source

Beutler Lab

Gene Symbol

Tcaf3

Ensembl Gene

ENSMUSG00000018656

Gene Name

TRPM8 channel-associated factor 3

Synonyms

Eapa2, Fam115e

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

R7262 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

42584866-42597692 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 42593801 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 339 (L339P)

Ref Sequence

ENSEMBL: ENSMUSP00000064060 (fasta)

Gene Model

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

AlphaFold

Q6QR59

Predicted Effect

probably damaging
Transcript: ENSMUST00000069023
AA Change: L339P

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000064060
Gene: ENSMUSG00000018656
AA Change: L339P

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

SMART Domains

Protein: ENSMUSP00000123321
Gene: ENSMUSG00000018656

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (53/53)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921501E09Rik	G	A	17: 33,066,997	T277I	probably damaging	Het
Acap2	A	G	16: 31,127,319		probably null	Het
Adh5	C	A	3: 138,445,372	A32D	possibly damaging	Het
Ap1m2	A	G	9: 21,302,466	I295T	possibly damaging	Het
B230104I21Rik	T	C	4: 154,349,634	S92P	unknown	Het
Carnmt1	A	T	19: 18,677,864	N127I	probably benign	Het
Ccdc42	A	G	11: 68,594,573	T106A	probably damaging	Het
Cdcp1	T	C	9: 123,173,615	E797G	probably damaging	Het
Cep112	T	A	11: 108,664,641	V821D	probably damaging	Het
Cpvl	A	T	6: 53,932,515	V212D	probably damaging	Het
Cttnbp2nl	A	T	3: 105,032,746	N2K	probably damaging	Het
Cyp2c69	T	C	19: 39,886,732		probably benign	Het
Cyp2u1	T	C	3: 131,297,956	D305G	probably damaging	Het
Dab2ip	A	G	2: 35,622,286		probably null	Het
Ddx55	T	C	5: 124,566,856	L396P	probably benign	Het
Dhx34	G	A	7: 16,203,698	A786V	probably benign	Het
Ehbp1l1	A	T	19: 5,718,446	L943*	probably null	Het
Epm2aip1	A	G	9: 111,272,660	T234A	probably benign	Het
Flot2	T	C	11: 78,057,349	M145T	probably damaging	Het
Fn3k	T	C	11: 121,448,915	F168L	probably damaging	Het
Gm11639	G	A	11: 104,854,606		probably null	Het
Gmfb	A	T	14: 46,814,929	C87S	probably damaging	Het
H2-M3	T	C	17: 37,271,193	F180S	probably damaging	Het
Havcr2	C	T	11: 46,469,561	T205I	probably benign	Het
Hdac3	C	T	18: 37,945,563	C123Y	probably damaging	Het
Itpk1	T	C	12: 102,675,453	E37G	possibly damaging	Het
Jmjd7	A	G	2: 120,031,986	H283R	probably benign	Het
Kif26b	T	C	1: 178,917,654	S1772P	possibly damaging	Het
Klhl6	T	C	16: 19,982,796	T70A	probably damaging	Het
Kntc1	C	A	5: 123,786,973	D1116E	probably benign	Het
Lama4	T	A	10: 39,094,934	H1498Q	probably damaging	Het
Lamp1	A	T	8: 13,167,296	T102S	probably benign	Het
Lrp8	A	G	4: 107,847,464	N168D	probably benign	Het
Ltbp1	G	T	17: 75,364,368	D1515Y	probably damaging	Het
Obscn	A	G	11: 59,115,889	V1149A	probably damaging	Het
Olfr1310	A	G	2: 112,008,557	S210P	probably damaging	Het
Olfr1494	A	T	19: 13,749,171	T22S	probably benign	Het
Olfr600	T	C	7: 103,346,557	R124G	probably damaging	Het
Pak4	C	A	7: 28,565,200	M92I	possibly damaging	Het
Pam	T	C	1: 97,854,723	K157R		Het
Pcdh9	A	T	14: 93,015,705	V1174E	probably benign	Het
Ppp1r3a	T	C	6: 14,719,070	D615G	probably benign	Het
Senp1	A	T	15: 98,066,498	D278E	probably benign	Het
Serpinc1	A	G	1: 160,989,659	N108D	probably damaging	Het
Srl	C	A	16: 4,497,551	A76S	probably damaging	Het
Tbc1d16	C	A	11: 119,155,095	V509L	probably benign	Het
Tbc1d24	A	G	17: 24,207,846	F357S	probably damaging	Het
Tmem232	A	T	17: 65,500,117	I27N	probably benign	Het
Ubr2	T	C	17: 47,000,739	D62G	probably damaging	Het
Vcan	T	G	13: 89,705,161	D560A	possibly damaging	Het
Vmn2r80	T	A	10: 79,169,745	N405K	probably damaging	Het
Wdhd1	A	T	14: 47,251,973	I701K	probably benign	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
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
R9787:Tcaf3	UTSW	6	42597090	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CCGAAAGTGATAGTTTGTCCCTTC -3'
(R):5'- TGCTGCCATTTGTGCTTAATGC -3'

Sequencing Primer
(F):5'- AATGGGAAACTGCCTCGCTG -3'
(R):5'- CTTTACACTGGCTGATGGGGAAC -3'

Posted On

2019-06-26