Mutagenetix > Incidental Mutation

Incidental Mutation 'R4688:Tcaf3'

353849

Institutional Source

Beutler Lab

Gene Symbol

Tcaf3

Ensembl Gene

ENSMUSG00000018656

Gene Name

TRPM8 channel-associated factor 3

Synonyms

Eapa2, Fam115e

MMRRC Submission

041939-MU

Accession Numbers

Essential gene?

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

Stock #

R4688 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

42584866-42597692 bp(-) (GRCm38)

Type of Mutation

splice site (784 bp from exon)

DNA Base Change (assembly)

G to A at 42593366 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000123321 (fasta)

Gene Model

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

AlphaFold

Q6QR59

Predicted Effect

probably benign
Transcript: ENSMUST00000069023
AA Change: A484V

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000064060
Gene: ENSMUSG00000018656
AA Change: A484V

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 null
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: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003E16Rik	A	G	6: 83,162,698 (GRCm38)	N535S	probably damaging	Het
Abcc12	T	C	8: 86,548,694 (GRCm38)	S452G	possibly damaging	Het
Acacb	C	A	5: 114,204,763 (GRCm38)	Q897K	probably benign	Het
Acot3	C	A	12: 84,053,917 (GRCm38)	R145S	probably damaging	Het
Ankrd54	A	T	15: 79,054,582 (GRCm38)	Y247N	probably damaging	Het
Arl11	G	A	14: 61,311,097 (GRCm38)	V119I	probably benign	Het
Atosb	A	G	4: 43,034,663 (GRCm38)	F352S	probably damaging	Het
Atxn7	T	A	14: 14,089,288 (GRCm38)	M268K	probably benign	Het
Bms1	G	A	6: 118,392,706 (GRCm38)	R934C	probably damaging	Het
Brd10	A	G	19: 29,717,101 (GRCm38)	I1664T	probably benign	Het
Chrnb3	T	C	8: 27,394,119 (GRCm38)	S295P	probably damaging	Het
Cic	TCCCCC	TCCCCCCC	7: 25,291,670 (GRCm38)		probably null	Het
Cnr1	A	T	4: 33,944,571 (GRCm38)	I320F	probably benign	Het
Cntn4	C	T	6: 106,437,949 (GRCm38)	P147L	probably damaging	Het
Col24a1	G	A	3: 145,314,383 (GRCm38)	V172I	probably benign	Het
Col9a3	A	G	2: 180,607,631 (GRCm38)	D262G	probably damaging	Het
Csrnp2	A	G	15: 100,482,360 (GRCm38)	V350A	probably damaging	Het
D630045J12Rik	A	G	6: 38,196,657 (GRCm38)	V192A	possibly damaging	Het
Deptor	A	G	15: 55,208,781 (GRCm38)	M219V	probably benign	Het
Dmrtb1	A	T	4: 107,684,050 (GRCm38)	L38Q	probably damaging	Het
Dvl2	G	A	11: 70,007,518 (GRCm38)	R367Q	possibly damaging	Het
Dync1h1	T	G	12: 110,655,528 (GRCm38)	I3435S	probably damaging	Het
Ecpas	A	G	4: 58,840,757 (GRCm38)	V667A	probably damaging	Het
Eif2b3	A	G	4: 117,058,849 (GRCm38)	N218D	probably benign	Het
Epha2	A	G	4: 141,318,981 (GRCm38)	D497G	probably benign	Het
Epha7	G	T	4: 28,821,367 (GRCm38)	L177F	probably damaging	Het
Fam98c	C	T	7: 29,155,241 (GRCm38)	E147K	probably damaging	Het
Fbxo17	A	G	7: 28,732,554 (GRCm38)	T19A	probably benign	Het
Fbxo47	A	G	11: 97,856,223 (GRCm38)	F339S	probably damaging	Het
Frmd4a	G	T	2: 4,537,311 (GRCm38)	V234L	possibly damaging	Het
Gal3st2	A	G	1: 93,872,523 (GRCm38)	D32G	probably damaging	Het
Gpr135	T	C	12: 72,070,946 (GRCm38)	T16A	probably benign	Het
Gpr160	A	T	3: 30,896,686 (GRCm38)	R302S	probably benign	Het
Hrh2	C	A	13: 54,214,801 (GRCm38)	N265K	probably benign	Het
Htatip2	C	A	7: 49,773,423 (GRCm38)	A242E	probably damaging	Het
Igfbp7	T	C	5: 77,407,635 (GRCm38)	Y127C	probably damaging	Het
Igkv16-104	A	G	6: 68,425,894 (GRCm38)	Q57R	possibly damaging	Het
Ino80c	A	G	18: 24,108,846 (GRCm38)	S161P	probably damaging	Het
Itprid1	G	A	6: 55,967,147 (GRCm38)		probably null	Het
Kcnc1	A	G	7: 46,397,835 (GRCm38)	D53G	probably benign	Het
Khdc4	T	A	3: 88,686,517 (GRCm38)	M71K	probably damaging	Het
Lce1h	G	T	3: 92,763,567 (GRCm38)	R93S	unknown	Het
Lce1k	T	C	3: 92,806,644 (GRCm38)	S78G	unknown	Het
Lhcgr	T	A	17: 88,765,152 (GRCm38)	I156F	probably damaging	Het
Lpl	T	C	8: 68,899,425 (GRCm38)	Y343H	probably damaging	Het
Lrp6	G	T	6: 134,479,743 (GRCm38)	R853S	probably damaging	Het
Lrrc7	A	G	3: 158,148,605 (GRCm38)	V1322A	probably damaging	Het
Lrrc74a	C	T	12: 86,737,698 (GRCm38)	Q67*	probably null	Het
Megf6	A	T	4: 154,253,814 (GRCm38)	D447V	probably damaging	Het
Mep1a	T	C	17: 43,482,248 (GRCm38)	D355G	possibly damaging	Het
Ncoa1	T	C	12: 4,315,781 (GRCm38)	D95G	probably benign	Het
Npepl1	A	T	2: 174,114,442 (GRCm38)	I139F	possibly damaging	Het
Nrcam	T	C	12: 44,547,237 (GRCm38)	S262P	probably benign	Het
Nrp1	A	G	8: 128,502,566 (GRCm38)	N842D	probably benign	Het
Olfml3	A	G	3: 103,732,181 (GRCm38)		probably benign	Het
Or1x6	A	G	11: 51,048,988 (GRCm38)	R294G	probably damaging	Het
Or4b1d	T	A	2: 90,138,999 (GRCm38)	N47Y	possibly damaging	Het
Or6b6	T	A	7: 106,971,861 (GRCm38)	Y161F	probably benign	Het
Or6c204	G	A	10: 129,186,645 (GRCm38)	P259S	probably damaging	Het
Or6k8-ps1	T	C	1: 174,151,596 (GRCm38)	Y27H	possibly damaging	Het
Or8b3b	A	G	9: 38,673,363 (GRCm38)	L27P	probably damaging	Het
Or9i1b	A	T	19: 13,919,241 (GRCm38)	T74S	probably benign	Het
Pde2a	A	G	7: 101,502,834 (GRCm38)	N316S	probably benign	Het
Pde4dip	T	A	3: 97,843,677 (GRCm38)	R74*	probably null	Het
Pex13	A	T	11: 23,655,472 (GRCm38)	W253R	possibly damaging	Het
Piezo1	A	T	8: 122,488,539 (GRCm38)	W1444R	probably damaging	Het
Pla2g4e	T	C	2: 120,167,933 (GRCm38)	K843R	possibly damaging	Het
Plxna2	C	T	1: 194,644,445 (GRCm38)	P229L	probably damaging	Het
Prelid3b	G	T	2: 174,466,799 (GRCm38)	T131K	probably benign	Het
Pros1	T	C	16: 62,889,007 (GRCm38)		probably null	Het
Prrc2c	G	T	1: 162,697,687 (GRCm38)	P450Q	unknown	Het
Ptbp1	G	T	10: 79,856,508 (GRCm38)	V5F	possibly damaging	Het
Ptk2	T	A	15: 73,206,225 (GRCm38)	L997F	probably damaging	Het
Rims1	G	T	1: 22,479,447 (GRCm38)	S525*	probably null	Het
Sanbr	A	G	11: 23,593,449 (GRCm38)	S530P	probably benign	Het
Sh2b3	T	A	5: 121,818,634 (GRCm38)	D318V	probably benign	Het
Slc16a13	A	T	11: 70,220,275 (GRCm38)	I88N	probably damaging	Het
Slit2	T	A	5: 48,257,003 (GRCm38)		probably null	Het
Snx10	A	G	6: 51,579,938 (GRCm38)	N67S	probably damaging	Het
Stil	A	G	4: 115,041,308 (GRCm38)	Y1045C	probably damaging	Het
Stra6	A	G	9: 58,135,076 (GRCm38)		probably null	Het
Sympk	A	G	7: 19,054,410 (GRCm38)	S1254G	probably benign	Het
Syt15	G	T	14: 34,228,054 (GRCm38)	G377V	probably damaging	Het
Taar4	A	T	10: 23,960,833 (GRCm38)	I114F	probably damaging	Het
Tgm7	A	T	2: 121,094,021 (GRCm38)	N558K	probably benign	Het
Tln2	T	G	9: 67,397,653 (GRCm38)	M1L	probably benign	Het
Trim50	C	T	5: 135,367,140 (GRCm38)	T314I	probably damaging	Het
Trp53rka	A	T	2: 165,491,392 (GRCm38)	Y192*	probably null	Het
Ube3b	T	C	5: 114,393,078 (GRCm38)	V211A	probably benign	Het
Ush2a	A	G	1: 188,399,941 (GRCm38)	S787G	probably benign	Het
Vmn1r189	T	C	13: 22,102,119 (GRCm38)	M183V	probably damaging	Het
Vps13d	G	T	4: 145,178,212 (GRCm38)	Q115K	probably benign	Het
Zfp358	A	G	8: 3,495,493 (GRCm38)	D25G	probably damaging	Het
Zfp521	T	G	18: 13,844,590 (GRCm38)	K922T	probably damaging	Het
Zfp521	T	A	18: 13,844,591 (GRCm38)	K922*	probably null	Het
Zfp68	T	A	5: 138,616,481 (GRCm38)	K4*	probably null	Het

Other mutations in Tcaf3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00162:Tcaf3	APN	6	42,593,385 (GRCm38)	missense	probably benign	0.14
IGL00931:Tcaf3	APN	6	42,597,228 (GRCm38)	missense	probably benign	0.16
IGL01391:Tcaf3	APN	6	42,593,681 (GRCm38)	missense	probably damaging	1.00
IGL01804:Tcaf3	APN	6	42,597,129 (GRCm38)	missense	probably damaging	1.00
IGL02272:Tcaf3	APN	6	42,596,660 (GRCm38)	missense	probably damaging	0.98
IGL02934:Tcaf3	APN	6	42,593,898 (GRCm38)	missense	probably benign	0.00
IGL03258:Tcaf3	APN	6	42,589,839 (GRCm38)	missense	probably damaging	1.00
defused	UTSW	6	42,596,933 (GRCm38)	missense	probably benign	0.03
R0116:Tcaf3	UTSW	6	42,591,350 (GRCm38)	missense	probably benign	0.12
R0135:Tcaf3	UTSW	6	42,589,758 (GRCm38)	missense	probably benign
R0357:Tcaf3	UTSW	6	42,589,827 (GRCm38)	missense	probably damaging	0.98
R0526:Tcaf3	UTSW	6	42,589,804 (GRCm38)	missense	probably damaging	1.00
R0592:Tcaf3	UTSW	6	42,596,843 (GRCm38)	missense	probably benign	0.16
R1185:Tcaf3	UTSW	6	42,591,434 (GRCm38)	missense	probably damaging	1.00
R1185:Tcaf3	UTSW	6	42,591,434 (GRCm38)	missense	probably damaging	1.00
R1185:Tcaf3	UTSW	6	42,591,434 (GRCm38)	missense	probably damaging	1.00
R1902:Tcaf3	UTSW	6	42,593,552 (GRCm38)	missense	possibly damaging	0.83
R1912:Tcaf3	UTSW	6	42,596,688 (GRCm38)	missense	possibly damaging	0.59
R2020:Tcaf3	UTSW	6	42,593,724 (GRCm38)	missense	possibly damaging	0.66
R2238:Tcaf3	UTSW	6	42,593,328 (GRCm38)	missense	probably benign	0.00
R2259:Tcaf3	UTSW	6	42,591,430 (GRCm38)	missense	possibly damaging	0.53
R2436:Tcaf3	UTSW	6	42,593,729 (GRCm38)	missense	probably damaging	1.00
R3005:Tcaf3	UTSW	6	42,594,044 (GRCm38)	missense	probably damaging	1.00
R3402:Tcaf3	UTSW	6	42,593,853 (GRCm38)	missense	probably benign	0.08
R3753:Tcaf3	UTSW	6	42,589,804 (GRCm38)	missense	probably damaging	1.00
R3799:Tcaf3	UTSW	6	42,597,080 (GRCm38)	missense	probably damaging	1.00
R4515:Tcaf3	UTSW	6	42,589,996 (GRCm38)	missense	probably damaging	1.00
R4640:Tcaf3	UTSW	6	42,587,579 (GRCm38)	missense	probably damaging	0.96
R4904:Tcaf3	UTSW	6	42,593,997 (GRCm38)	nonsense	probably null
R5030:Tcaf3	UTSW	6	42,596,933 (GRCm38)	missense	probably benign	0.03
R5031:Tcaf3	UTSW	6	42,596,933 (GRCm38)	missense	probably benign	0.03
R5045:Tcaf3	UTSW	6	42,593,684 (GRCm38)	missense	possibly damaging	0.55
R5105:Tcaf3	UTSW	6	42,591,325 (GRCm38)	missense	probably damaging	1.00
R5139:Tcaf3	UTSW	6	42,596,933 (GRCm38)	missense	probably benign	0.03
R5187:Tcaf3	UTSW	6	42,597,020 (GRCm38)	missense	possibly damaging	0.51
R5196:Tcaf3	UTSW	6	42,593,715 (GRCm38)	missense	probably benign	0.00
R5213:Tcaf3	UTSW	6	42,591,467 (GRCm38)	missense	probably damaging	1.00
R5296:Tcaf3	UTSW	6	42,587,510 (GRCm38)	missense	possibly damaging	0.55
R5402:Tcaf3	UTSW	6	42,591,926 (GRCm38)	missense	probably benign	0.12
R5425:Tcaf3	UTSW	6	42,596,763 (GRCm38)	missense	probably damaging	1.00
R5431:Tcaf3	UTSW	6	42,597,185 (GRCm38)	missense	probably damaging	1.00
R5601:Tcaf3	UTSW	6	42,587,528 (GRCm38)	missense	possibly damaging	0.90
R5839:Tcaf3	UTSW	6	42,593,849 (GRCm38)	missense	possibly damaging	0.55
R5865:Tcaf3	UTSW	6	42,596,697 (GRCm38)	missense	probably benign	0.07
R6005:Tcaf3	UTSW	6	42,589,971 (GRCm38)	missense	probably benign	0.19
R6270:Tcaf3	UTSW	6	42,593,791 (GRCm38)	missense	probably benign	0.00
R6341:Tcaf3	UTSW	6	42,597,259 (GRCm38)	missense	possibly damaging	0.55
R6344:Tcaf3	UTSW	6	42,597,171 (GRCm38)	missense	possibly damaging	0.48
R6521:Tcaf3	UTSW	6	42,593,238 (GRCm38)	missense	probably damaging	0.99
R6589:Tcaf3	UTSW	6	42,594,061 (GRCm38)	missense	possibly damaging	0.55
R6981:Tcaf3	UTSW	6	42,597,125 (GRCm38)	missense	probably damaging	1.00
R7155:Tcaf3	UTSW	6	42,593,891 (GRCm38)	missense	probably benign
R7185:Tcaf3	UTSW	6	42,593,930 (GRCm38)	missense	probably benign	0.01
R7262:Tcaf3	UTSW	6	42,593,801 (GRCm38)	missense	probably damaging	0.97
R7340:Tcaf3	UTSW	6	42,589,914 (GRCm38)	missense	probably benign	0.08
R7421:Tcaf3	UTSW	6	42,596,842 (GRCm38)	missense	probably benign	0.02
R7690:Tcaf3	UTSW	6	42,597,135 (GRCm38)	missense	probably damaging	1.00
R7850:Tcaf3	UTSW	6	42,594,206 (GRCm38)	splice site	probably null
R7909:Tcaf3	UTSW	6	42,591,964 (GRCm38)	missense	possibly damaging	0.92
R9419:Tcaf3	UTSW	6	42,596,782 (GRCm38)	missense	probably benign	0.00
R9440:Tcaf3	UTSW	6	42,596,972 (GRCm38)	nonsense	probably null
R9469:Tcaf3	UTSW	6	42,596,894 (GRCm38)	missense	probably benign	0.00
R9668:Tcaf3	UTSW	6	42,589,702 (GRCm38)	missense	probably damaging	1.00
R9787:Tcaf3	UTSW	6	42,597,090 (GRCm38)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CCCAAGTGAAGCTGAATTTAGCC -3'
(R):5'- TGAGTCCGTGATCTACAGCC -3'

Sequencing Primer
(F):5'- GAATTTAGCCAGCTTTCTTTCTCTAC -3'
(R):5'- TCTACAGCCGGGGGAGTAG -3'

Posted On

2015-10-21