Mutagenetix > Incidental Mutation

Incidental Mutation 'R5839:Tcaf3'

449797

Institutional Source

Beutler Lab

Gene Symbol

Tcaf3

Ensembl Gene

ENSMUSG00000018656

Gene Name

TRPM8 channel-associated factor 3

Synonyms

Eapa2, Fam115e

MMRRC Submission

044059-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R5839 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

42584866-42597692 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 42593849 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 323 (E323G)

Ref Sequence

ENSEMBL: ENSMUSP00000064060 (fasta)

Gene Model

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

AlphaFold

Q6QR59

Predicted Effect

possibly damaging
Transcript: ENSMUST00000069023
AA Change: E323G

PolyPhen 2 Score 0.549 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000064060
Gene: ENSMUSG00000018656
AA Change: E323G

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.1%

Validation Efficiency

94% (62/66)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931409K22Rik	T	C	5: 24,552,026	K218E	probably damaging	Het
Adam22	T	A	5: 8,136,861	Y420F	probably damaging	Het
Adcy8	A	G	15: 64,716,182	Y919H	probably damaging	Het
Ampd1	A	T	3: 103,085,428	N162I	possibly damaging	Het
Arhgef15	G	A	11: 68,954,156	A205V	probably benign	Het
Ash1l	A	G	3: 88,983,351	K846E	probably damaging	Het
Azi2	C	T	9: 118,059,119	T250I	probably damaging	Het
Btbd16	G	A	7: 130,815,808		probably null	Het
Ceacam16	T	A	7: 19,856,083	K52*	probably null	Het
Cfap74	T	C	4: 155,422,750		probably null	Het
Cgn	A	C	3: 94,774,393	L464R	probably damaging	Het
Chpt1	T	A	10: 88,503,763	H32L	probably damaging	Het
Clk1	G	A	1: 58,421,915	T7I	probably benign	Het
Col6a5	C	T	9: 105,945,393		probably null	Het
Cpne4	C	A	9: 104,925,828	R224S	probably damaging	Het
Cysltr2	T	C	14: 73,030,183	Y29C	probably damaging	Het
Ddx5	A	G	11: 106,782,206	S498P	probably damaging	Het
Dgkg	A	G	16: 22,566,494	Y382H	possibly damaging	Het
Efemp1	A	G	11: 28,921,418	E339G	possibly damaging	Het
Focad	T	A	4: 88,196,846		probably benign	Het
Gabbr1	G	A	17: 37,067,868	G650D	probably damaging	Het
Galnt9	A	G	5: 110,577,520	S108G	probably benign	Het
Igkv8-28	T	A	6: 70,144,161	M1L	probably benign	Het
Kcnq2	T	C	2: 181,109,751	Y284C	probably damaging	Het
Macf1	A	G	4: 123,381,324	F6299S	probably damaging	Het
Magi3	G	A	3: 104,219,731	T79M	probably damaging	Het
Mdh2	T	A	5: 135,783,292		probably null	Het
Mgam	A	C	6: 40,740,064	N108T	possibly damaging	Het
N4bp3	A	T	11: 51,646,082	F55I	probably benign	Het
Nasp	C	T	4: 116,602,091		probably null	Het
Ncapg	T	A	5: 45,672,278	H107Q	probably damaging	Het
Ofcc1	T	C	13: 40,280,545	K28R	probably damaging	Het
Opn1sw	C	T	6: 29,379,830	C135Y	probably damaging	Het
Pigo	T	C	4: 43,022,104	M346V	probably damaging	Het
Pkn2	A	T	3: 142,821,529	D386E	probably benign	Het
Psd2	G	T	18: 36,007,524	V617L	probably damaging	Het
Rab39	C	T	9: 53,706,087	R10H	probably damaging	Het
Slc6a6	T	A	6: 91,723,317	C9S	probably damaging	Het
Slc8a2	A	T	7: 16,134,487	I215F	probably damaging	Het
Slitrk5	T	C	14: 111,679,598	V218A	probably benign	Het
Smchd1	A	T	17: 71,394,862	V1045E	probably damaging	Het
Smoc1	T	C	12: 81,167,585	I247T	probably damaging	Het
Snapc4	G	C	2: 26,365,534	Q993E	probably benign	Het
Spata5	A	G	3: 37,464,654	D779G	probably damaging	Het
Spidr	A	T	16: 16,037,502	I383N	probably damaging	Het
Stab2	A	G	10: 86,872,691	V219A	probably damaging	Het
Tas2r103	T	C	6: 133,036,816	T96A	probably benign	Het
Tecta	C	T	9: 42,331,023	D2085N	probably benign	Het
Tecta	T	C	9: 42,372,976	T938A	possibly damaging	Het
Tekt2	T	A	4: 126,322,836	E328V	probably damaging	Het
Tgfb1i1	A	G	7: 128,253,365	*462W	probably null	Het
Tnip2	T	C	5: 34,496,632		probably benign	Het
Tpd52l2	G	A	2: 181,499,898	V25I	probably benign	Het
Traj15	T	A	14: 54,204,469		probably benign	Het
Trpm8	A	T	1: 88,325,506	I106F	possibly damaging	Het
Ttc22	T	C	4: 106,638,520	L357P	probably damaging	Het
Ttn	T	C	2: 76,909,428	H3589R	probably benign	Het
Vmn1r28	T	A	6: 58,265,295	I41N	possibly damaging	Het
Wasf1	T	A	10: 40,936,319	V368E	unknown	Het
Zeb1	A	G	18: 5,767,507	M673V	probably benign	Het
Zfp799	T	C	17: 32,822,112	D31G	probably null	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
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
R9787:Tcaf3	UTSW	6	42597090	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ATGGCTAGTGATACCAAGGC -3'
(R):5'- AATTGCTTTCTTGCAGCTGC -3'

Sequencing Primer
(F):5'- CCAAAGCGCTTAAGGACGATGTTATC -3'
(R):5'- CGCTATGGCCGTGGTCG -3'

Posted On

2016-12-20