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

42564147-42574306 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 42566692 bp (GRCm39)

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
4932438H23Rik	A	G	16: 90,852,515 (GRCm39)	F207S	probably damaging	Het
Abhd8	T	A	8: 71,910,718 (GRCm39)	K363N	probably benign	Het
Adam11	T	A	11: 102,667,399 (GRCm39)	V653E	probably damaging	Het
Adam18	T	C	8: 25,155,558 (GRCm39)	S154G	possibly damaging	Het
Adamts1	T	C	16: 85,595,591 (GRCm39)		probably benign	Het
Afm	G	T	5: 90,698,181 (GRCm39)	V528L	probably benign	Het
Alox12b	C	T	11: 69,053,574 (GRCm39)	H145Y	probably benign	Het
Ankmy2	C	A	12: 36,220,434 (GRCm39)		probably benign	Het
Aox3	G	A	1: 58,164,247 (GRCm39)		probably benign	Het
Arhgap28	T	C	17: 68,171,583 (GRCm39)	D396G	probably damaging	Het
B430203G13Rik	T	C	12: 17,974,489 (GRCm39)		noncoding transcript	Het
Bean1	C	T	8: 104,943,807 (GRCm39)	P121S	probably damaging	Het
Bok	T	C	1: 93,614,229 (GRCm39)	S21P	probably damaging	Het
Brwd1	A	C	16: 95,848,304 (GRCm39)	N572K	probably damaging	Het
C5ar1	A	T	7: 15,982,864 (GRCm39)	V52E	probably damaging	Het
Cblif	G	T	19: 11,735,118 (GRCm39)	C246F	probably damaging	Het
Cdr2l	C	A	11: 115,284,497 (GRCm39)	P278T	probably damaging	Het
Cnga4	T	A	7: 105,056,055 (GRCm39)	I219N	probably damaging	Het
Cpne2	C	T	8: 95,281,553 (GRCm39)		probably benign	Het
D430041D05Rik	A	G	2: 104,085,379 (GRCm39)	S1057P	possibly damaging	Het
Def8	G	A	8: 124,183,234 (GRCm39)	A278T	probably damaging	Het
Dgcr2	A	G	16: 17,676,306 (GRCm39)	S152P	probably damaging	Het
Dstyk	A	T	1: 132,390,672 (GRCm39)	D828V	probably damaging	Het
Eml2	T	C	7: 18,937,877 (GRCm39)	S582P	probably damaging	Het
Engase	T	C	11: 118,375,304 (GRCm39)	Y359H	possibly damaging	Het
Fat3	T	C	9: 15,918,073 (GRCm39)	D1450G	probably damaging	Het
Fbxw8	A	T	5: 118,208,552 (GRCm39)	I467N	probably damaging	Het
Fhdc1	A	T	3: 84,352,925 (GRCm39)	Y767N	probably damaging	Het
Flii	T	C	11: 60,614,204 (GRCm39)	D105G	probably damaging	Het
Gaa	C	T	11: 119,169,716 (GRCm39)	T590I	probably benign	Het
Gabrr1	T	A	4: 33,160,224 (GRCm39)	S303T	probably damaging	Het
Garre1	T	C	7: 33,945,382 (GRCm39)	I499M	probably damaging	Het
Glp1r	A	G	17: 31,143,551 (GRCm39)	I196V	probably benign	Het
Grm6	G	A	11: 50,744,050 (GRCm39)	E174K	probably damaging	Het
Helz2	A	C	2: 180,874,062 (GRCm39)	L2144R	probably damaging	Het
Itpr1	A	T	6: 108,465,443 (GRCm39)		probably benign	Het
Kcns1	A	T	2: 164,006,875 (GRCm39)	S363T	possibly damaging	Het
Kif13a	A	T	13: 46,947,419 (GRCm39)	V855E	probably damaging	Het
Krt42	T	C	11: 100,153,985 (GRCm39)	T424A	possibly damaging	Het
Lct	A	T	1: 128,212,860 (GRCm39)	F1931Y	probably damaging	Het
Lrp1b	A	T	2: 41,159,251 (GRCm39)	V1563E	probably damaging	Het
Lrrc37	C	A	11: 103,508,873 (GRCm39)		probably benign	Het
Lzts2	T	C	19: 45,014,626 (GRCm39)		probably benign	Het
Mamdc4	C	T	2: 25,456,932 (GRCm39)	R615Q	possibly damaging	Het
Mei1	C	T	15: 81,956,170 (GRCm39)	Q133*	probably null	Het
Mif4gd	T	C	11: 115,499,291 (GRCm39)	E197G	probably damaging	Het
Ncdn	A	T	4: 126,640,462 (GRCm39)	S544T	probably benign	Het
Nfat5	C	T	8: 108,065,707 (GRCm39)	R156W	probably damaging	Het
Or52a5	T	A	7: 103,426,970 (GRCm39)	D194V	probably damaging	Het
Padi6	T	C	4: 140,464,663 (GRCm39)	T114A	probably benign	Het
Pigk	G	T	3: 152,450,343 (GRCm39)		probably benign	Het
Pkd1	T	A	17: 24,784,045 (GRCm39)	F197Y	possibly damaging	Het
Pld5	A	T	1: 175,798,155 (GRCm39)	F415I	probably damaging	Het
Pnpla5	A	G	15: 83,998,150 (GRCm39)	L364P	probably damaging	Het
Prrc2c	G	A	1: 162,543,052 (GRCm39)		probably benign	Het
Rab32	C	T	10: 10,426,584 (GRCm39)	D121N	probably damaging	Het
Rab44	A	T	17: 29,357,106 (GRCm39)	T79S	probably benign	Het
Reln	G	T	5: 22,333,647 (GRCm39)	N258K	probably damaging	Het
Retsat	A	G	6: 72,579,755 (GRCm39)	T177A	probably damaging	Het
Serpinf2	T	A	11: 75,327,219 (GRCm39)	H236L	probably damaging	Het
Slc26a6	A	T	9: 108,737,794 (GRCm39)		probably benign	Het
Slitrk1	T	A	14: 109,149,061 (GRCm39)	E550V	probably benign	Het
Smarcd3	A	T	5: 24,800,497 (GRCm39)		probably benign	Het
Spdye4a	A	C	5: 143,210,857 (GRCm39)		probably null	Het
Susd2	C	T	10: 75,474,348 (GRCm39)	G572D	probably damaging	Het
Tg	A	G	15: 66,566,719 (GRCm39)	S1256G	probably benign	Het
Them4	A	T	3: 94,230,877 (GRCm39)		probably benign	Het
Tmem210	C	T	2: 25,178,480 (GRCm39)	A47V	probably damaging	Het
Tnfrsf1b	A	G	4: 144,955,616 (GRCm39)	Y47H	probably benign	Het
Tnik	T	G	3: 28,661,394 (GRCm39)	N598K	possibly damaging	Het
Ttc3	A	G	16: 94,263,127 (GRCm39)	N1498D	possibly damaging	Het
Ttll4	C	A	1: 74,719,087 (GRCm39)	H313N	possibly damaging	Het
Vipr2	A	G	12: 116,106,447 (GRCm39)	I348V	probably benign	Het
Vps13a	A	G	19: 16,758,129 (GRCm39)	V2A	probably damaging	Het
Vps72	G	A	3: 95,026,508 (GRCm39)	R151K	probably damaging	Het
Zfp106	A	G	2: 120,350,968 (GRCm39)	V1561A	probably damaging	Het
Zfp658	C	A	7: 43,223,019 (GRCm39)	Y431*	probably null	Het
Zkscan2	T	C	7: 123,079,864 (GRCm39)	K698E	possibly damaging	Het

Other mutations in Tcaf3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00162:Tcaf3	APN	6	42,570,319 (GRCm39)	missense	probably benign	0.14
IGL00931:Tcaf3	APN	6	42,574,162 (GRCm39)	missense	probably benign	0.16
IGL01391:Tcaf3	APN	6	42,570,615 (GRCm39)	missense	probably damaging	1.00
IGL01804:Tcaf3	APN	6	42,574,063 (GRCm39)	missense	probably damaging	1.00
IGL02272:Tcaf3	APN	6	42,573,594 (GRCm39)	missense	probably damaging	0.98
IGL02934:Tcaf3	APN	6	42,570,832 (GRCm39)	missense	probably benign	0.00
IGL03258:Tcaf3	APN	6	42,566,773 (GRCm39)	missense	probably damaging	1.00
defused	UTSW	6	42,573,867 (GRCm39)	missense	probably benign	0.03
R0116:Tcaf3	UTSW	6	42,568,284 (GRCm39)	missense	probably benign	0.12
R0357:Tcaf3	UTSW	6	42,566,761 (GRCm39)	missense	probably damaging	0.98
R0526:Tcaf3	UTSW	6	42,566,738 (GRCm39)	missense	probably damaging	1.00
R0592:Tcaf3	UTSW	6	42,573,777 (GRCm39)	missense	probably benign	0.16
R1185:Tcaf3	UTSW	6	42,568,368 (GRCm39)	missense	probably damaging	1.00
R1185:Tcaf3	UTSW	6	42,568,368 (GRCm39)	missense	probably damaging	1.00
R1185:Tcaf3	UTSW	6	42,568,368 (GRCm39)	missense	probably damaging	1.00
R1902:Tcaf3	UTSW	6	42,570,486 (GRCm39)	missense	possibly damaging	0.83
R1912:Tcaf3	UTSW	6	42,573,622 (GRCm39)	missense	possibly damaging	0.59
R2020:Tcaf3	UTSW	6	42,570,658 (GRCm39)	missense	possibly damaging	0.66
R2238:Tcaf3	UTSW	6	42,570,262 (GRCm39)	missense	probably benign	0.00
R2259:Tcaf3	UTSW	6	42,568,364 (GRCm39)	missense	possibly damaging	0.53
R2436:Tcaf3	UTSW	6	42,570,663 (GRCm39)	missense	probably damaging	1.00
R3005:Tcaf3	UTSW	6	42,570,978 (GRCm39)	missense	probably damaging	1.00
R3402:Tcaf3	UTSW	6	42,570,787 (GRCm39)	missense	probably benign	0.08
R3753:Tcaf3	UTSW	6	42,566,738 (GRCm39)	missense	probably damaging	1.00
R3799:Tcaf3	UTSW	6	42,574,014 (GRCm39)	missense	probably damaging	1.00
R4515:Tcaf3	UTSW	6	42,566,930 (GRCm39)	missense	probably damaging	1.00
R4640:Tcaf3	UTSW	6	42,564,513 (GRCm39)	missense	probably damaging	0.96
R4688:Tcaf3	UTSW	6	42,570,300 (GRCm39)	splice site	probably null
R4904:Tcaf3	UTSW	6	42,570,931 (GRCm39)	nonsense	probably null
R5030:Tcaf3	UTSW	6	42,573,867 (GRCm39)	missense	probably benign	0.03
R5031:Tcaf3	UTSW	6	42,573,867 (GRCm39)	missense	probably benign	0.03
R5045:Tcaf3	UTSW	6	42,570,618 (GRCm39)	missense	possibly damaging	0.55
R5105:Tcaf3	UTSW	6	42,568,259 (GRCm39)	missense	probably damaging	1.00
R5139:Tcaf3	UTSW	6	42,573,867 (GRCm39)	missense	probably benign	0.03
R5187:Tcaf3	UTSW	6	42,573,954 (GRCm39)	missense	possibly damaging	0.51
R5196:Tcaf3	UTSW	6	42,570,649 (GRCm39)	missense	probably benign	0.00
R5213:Tcaf3	UTSW	6	42,568,401 (GRCm39)	missense	probably damaging	1.00
R5296:Tcaf3	UTSW	6	42,564,444 (GRCm39)	missense	possibly damaging	0.55
R5402:Tcaf3	UTSW	6	42,568,860 (GRCm39)	missense	probably benign	0.12
R5425:Tcaf3	UTSW	6	42,573,697 (GRCm39)	missense	probably damaging	1.00
R5431:Tcaf3	UTSW	6	42,574,119 (GRCm39)	missense	probably damaging	1.00
R5601:Tcaf3	UTSW	6	42,564,462 (GRCm39)	missense	possibly damaging	0.90
R5839:Tcaf3	UTSW	6	42,570,783 (GRCm39)	missense	possibly damaging	0.55
R5865:Tcaf3	UTSW	6	42,573,631 (GRCm39)	missense	probably benign	0.07
R6005:Tcaf3	UTSW	6	42,566,905 (GRCm39)	missense	probably benign	0.19
R6270:Tcaf3	UTSW	6	42,570,725 (GRCm39)	missense	probably benign	0.00
R6341:Tcaf3	UTSW	6	42,574,193 (GRCm39)	missense	possibly damaging	0.55
R6344:Tcaf3	UTSW	6	42,574,105 (GRCm39)	missense	possibly damaging	0.48
R6521:Tcaf3	UTSW	6	42,570,172 (GRCm39)	missense	probably damaging	0.99
R6589:Tcaf3	UTSW	6	42,570,995 (GRCm39)	missense	possibly damaging	0.55
R6981:Tcaf3	UTSW	6	42,574,059 (GRCm39)	missense	probably damaging	1.00
R7155:Tcaf3	UTSW	6	42,570,825 (GRCm39)	missense	probably benign
R7185:Tcaf3	UTSW	6	42,570,864 (GRCm39)	missense	probably benign	0.01
R7262:Tcaf3	UTSW	6	42,570,735 (GRCm39)	missense	probably damaging	0.97
R7340:Tcaf3	UTSW	6	42,566,848 (GRCm39)	missense	probably benign	0.08
R7421:Tcaf3	UTSW	6	42,573,776 (GRCm39)	missense	probably benign	0.02
R7690:Tcaf3	UTSW	6	42,574,069 (GRCm39)	missense	probably damaging	1.00
R7850:Tcaf3	UTSW	6	42,571,140 (GRCm39)	splice site	probably null
R7909:Tcaf3	UTSW	6	42,568,898 (GRCm39)	missense	possibly damaging	0.92
R9419:Tcaf3	UTSW	6	42,573,716 (GRCm39)	missense	probably benign	0.00
R9440:Tcaf3	UTSW	6	42,573,906 (GRCm39)	nonsense	probably null
R9469:Tcaf3	UTSW	6	42,573,828 (GRCm39)	missense	probably benign	0.00
R9668:Tcaf3	UTSW	6	42,566,636 (GRCm39)	missense	probably damaging	1.00
R9787:Tcaf3	UTSW	6	42,574,024 (GRCm39)	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