Mutagenetix > Incidental Mutation

Incidental Mutation 'R0135:Tcaf3'

21875

Institutional Source

Beutler Lab

Gene Symbol

Tcaf3

Ensembl Gene

ENSMUSG00000018656

Gene Name

TRPM8 channel-associated factor 3

Synonyms

Eapa2, Fam115e

MMRRC Submission

038420-MU

Accession Numbers

Essential gene?

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

Stock #

R0135 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

42584866-42597692 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 42589758 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Lysine at position 799 (R799K)

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: R799K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000064060
Gene: ENSMUSG00000018656
AA Change: R799K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151898

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.3%
10x: 96.5%
20x: 93.6%

Validation Efficiency

100% (80/80)

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406P16Rik	T	C	7: 34,245,957 (GRCm38)	I499M	probably damaging	Het
4932438H23Rik	A	G	16: 91,055,627 (GRCm38)	F207S	probably damaging	Het
Abhd8	T	A	8: 71,458,074 (GRCm38)	K363N	probably benign	Het
Adam11	T	A	11: 102,776,573 (GRCm38)	V653E	probably damaging	Het
Adam18	T	C	8: 24,665,542 (GRCm38)	S154G	possibly damaging	Het
Adamts1	T	C	16: 85,798,703 (GRCm38)		probably benign	Het
Afm	G	T	5: 90,550,322 (GRCm38)	V528L	probably benign	Het
Alox12b	C	T	11: 69,162,748 (GRCm38)	H145Y	probably benign	Het
Ankmy2	C	A	12: 36,170,435 (GRCm38)		probably benign	Het
Aox3	G	A	1: 58,125,088 (GRCm38)		probably benign	Het
Arhgap28	T	C	17: 67,864,588 (GRCm38)	D396G	probably damaging	Het
B430203G13Rik	T	C	12: 17,924,488 (GRCm38)		noncoding transcript	Het
Bean1	C	T	8: 104,217,175 (GRCm38)	P121S	probably damaging	Het
Bok	T	C	1: 93,686,507 (GRCm38)	S21P	probably damaging	Het
Brwd1	A	C	16: 96,047,104 (GRCm38)	N572K	probably damaging	Het
C5ar1	A	T	7: 16,248,939 (GRCm38)	V52E	probably damaging	Het
Cdr2l	C	A	11: 115,393,671 (GRCm38)	P278T	probably damaging	Het
Cnga4	T	A	7: 105,406,848 (GRCm38)	I219N	probably damaging	Het
Cpne2	C	T	8: 94,554,925 (GRCm38)		probably benign	Het
D430041D05Rik	A	G	2: 104,255,034 (GRCm38)	S1057P	possibly damaging	Het
Def8	G	A	8: 123,456,495 (GRCm38)	A278T	probably damaging	Het
Dgcr2	A	G	16: 17,858,442 (GRCm38)	S152P	probably damaging	Het
Dstyk	A	T	1: 132,462,934 (GRCm38)	D828V	probably damaging	Het
Eml2	T	C	7: 19,203,952 (GRCm38)	S582P	probably damaging	Het
Engase	T	C	11: 118,484,478 (GRCm38)	Y359H	possibly damaging	Het
Fat3	T	C	9: 16,006,777 (GRCm38)	D1450G	probably damaging	Het
Fbxw8	A	T	5: 118,070,487 (GRCm38)	I467N	probably damaging	Het
Fhdc1	A	T	3: 84,445,618 (GRCm38)	Y767N	probably damaging	Het
Flii	T	C	11: 60,723,378 (GRCm38)	D105G	probably damaging	Het
Gaa	C	T	11: 119,278,890 (GRCm38)	T590I	probably benign	Het
Gabrr1	T	A	4: 33,160,224 (GRCm38)	S303T	probably damaging	Het
Gif	G	T	19: 11,757,754 (GRCm38)	C246F	probably damaging	Het
Glp1r	A	G	17: 30,924,577 (GRCm38)	I196V	probably benign	Het
Gm884	C	A	11: 103,618,047 (GRCm38)		probably benign	Het
Grm6	G	A	11: 50,853,223 (GRCm38)	E174K	probably damaging	Het
Helz2	A	C	2: 181,232,269 (GRCm38)	L2144R	probably damaging	Het
Itpr1	A	T	6: 108,488,482 (GRCm38)		probably benign	Het
Kcns1	A	T	2: 164,164,955 (GRCm38)	S363T	possibly damaging	Het
Kif13a	A	T	13: 46,793,943 (GRCm38)	V855E	probably damaging	Het
Krt42	T	C	11: 100,263,159 (GRCm38)	T424A	possibly damaging	Het
Lct	A	T	1: 128,285,123 (GRCm38)	F1931Y	probably damaging	Het
Lrp1b	A	T	2: 41,269,239 (GRCm38)	V1563E	probably damaging	Het
Lzts2	T	C	19: 45,026,187 (GRCm38)		probably benign	Het
Mamdc4	C	T	2: 25,566,920 (GRCm38)	R615Q	possibly damaging	Het
Mei1	C	T	15: 82,071,969 (GRCm38)	Q133*	probably null	Het
Mif4gd	T	C	11: 115,608,465 (GRCm38)	E197G	probably damaging	Het
Ncdn	A	T	4: 126,746,669 (GRCm38)	S544T	probably benign	Het
Nfat5	C	T	8: 107,339,075 (GRCm38)	R156W	probably damaging	Het
Olfr68	T	A	7: 103,777,763 (GRCm38)	D194V	probably damaging	Het
Padi6	T	C	4: 140,737,352 (GRCm38)	T114A	probably benign	Het
Pigk	G	T	3: 152,744,706 (GRCm38)		probably benign	Het
Pkd1	T	A	17: 24,565,071 (GRCm38)	F197Y	possibly damaging	Het
Pld5	A	T	1: 175,970,589 (GRCm38)	F415I	probably damaging	Het
Pnpla5	A	G	15: 84,113,949 (GRCm38)	L364P	probably damaging	Het
Prrc2c	G	A	1: 162,715,483 (GRCm38)		probably benign	Het
Rab32	C	T	10: 10,550,840 (GRCm38)	D121N	probably damaging	Het
Rab44	A	T	17: 29,138,132 (GRCm38)	T79S	probably benign	Het
Reln	G	T	5: 22,128,649 (GRCm38)	N258K	probably damaging	Het
Retsat	A	G	6: 72,602,772 (GRCm38)	T177A	probably damaging	Het
Serpinf2	T	A	11: 75,436,393 (GRCm38)	H236L	probably damaging	Het
Slc26a6	A	T	9: 108,860,595 (GRCm38)		probably benign	Het
Slitrk1	T	A	14: 108,911,629 (GRCm38)	E550V	probably benign	Het
Smarcd3	A	T	5: 24,595,499 (GRCm38)		probably benign	Het
Spdye4a	A	C	5: 143,225,102 (GRCm38)		probably null	Het
Susd2	C	T	10: 75,638,514 (GRCm38)	G572D	probably damaging	Het
Tg	A	G	15: 66,694,870 (GRCm38)	S1256G	probably benign	Het
Them4	A	T	3: 94,323,570 (GRCm38)		probably benign	Het
Tmem210	C	T	2: 25,288,468 (GRCm38)	A47V	probably damaging	Het
Tnfrsf1b	A	G	4: 145,229,046 (GRCm38)	Y47H	probably benign	Het
Tnik	T	G	3: 28,607,245 (GRCm38)	N598K	possibly damaging	Het
Ttc3	A	G	16: 94,462,268 (GRCm38)	N1498D	possibly damaging	Het
Ttll4	C	A	1: 74,679,928 (GRCm38)	H313N	possibly damaging	Het
Vipr2	A	G	12: 116,142,827 (GRCm38)	I348V	probably benign	Het
Vps13a	A	G	19: 16,780,765 (GRCm38)	V2A	probably damaging	Het
Vps72	G	A	3: 95,119,197 (GRCm38)	R151K	probably damaging	Het
Zfp106	A	G	2: 120,520,487 (GRCm38)	V1561A	probably damaging	Het
Zfp658	C	A	7: 43,573,595 (GRCm38)	Y431*	probably null	Het
Zkscan2	T	C	7: 123,480,641 (GRCm38)	K698E	possibly damaging	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
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
R4688:Tcaf3	UTSW	6	42,593,366 (GRCm38)	splice site	probably null
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'- TCTGGGCACAGCTATGTAATTCTGC -3'
(R):5'- TGTGATACATGAACTGGGCCACAAC -3'

Sequencing Primer
(F):5'- GTGTCATGCCTGATCTACAAGAAG -3'
(R):5'- TGGGCCACAACCATCAGAAG -3'

Posted On

2013-04-12