Mutagenetix > Incidental Mutation

Incidental Mutation 'R2436:Tcaf3'

249580

Institutional Source

Beutler Lab

Gene Symbol

Tcaf3

Ensembl Gene

ENSMUSG00000018656

Gene Name

TRPM8 channel-associated factor 3

Synonyms

Eapa2, Fam115e

MMRRC Submission

040397-MU

Accession Numbers

Essential gene?

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

Stock #

R2436 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

42564147-42574306 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 42570663 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 363 (A363V)

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: A363V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000064060
Gene: ENSMUSG00000018656
AA Change: A363V

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: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg7	A	G	16: 56,582,308 (GRCm39)	S277P	possibly damaging	Het
Arl6ip4	T	C	5: 124,254,662 (GRCm39)	S52P	probably benign	Het
Barx2	T	C	9: 31,824,383 (GRCm39)	H2R	probably damaging	Het
Calhm3	T	C	19: 47,140,404 (GRCm39)	T230A	probably damaging	Het
Card11	C	T	5: 140,868,117 (GRCm39)	V844M	possibly damaging	Het
Dnah6	C	T	6: 73,126,156 (GRCm39)	R1327Q	probably benign	Het
Dnai4	T	C	4: 102,923,549 (GRCm39)	I427V	probably benign	Het
Ehbp1	C	A	11: 22,039,524 (GRCm39)		probably null	Het
Fgg	T	A	3: 82,921,496 (GRCm39)	I393N	possibly damaging	Het
Foxq1	A	T	13: 31,742,516 (GRCm39)		probably benign	Het
Hmgxb3	T	C	18: 61,280,566 (GRCm39)	T646A	probably benign	Het
Homer3	G	A	8: 70,745,706 (GRCm39)	E324K	possibly damaging	Het
Krt80	A	G	15: 101,257,384 (GRCm39)	F183L	probably damaging	Het
Map3k21	A	T	8: 126,668,354 (GRCm39)	K647*	probably null	Het
Mcm3ap	A	G	10: 76,325,891 (GRCm39)	Y1067C	probably damaging	Het
Myh1	G	T	11: 67,104,097 (GRCm39)	Q921H	probably benign	Het
Nme8	A	G	13: 19,862,029 (GRCm39)	F200S	probably damaging	Het
Nploc4	T	C	11: 120,309,143 (GRCm39)	N153S	possibly damaging	Het
Or14c45	T	C	7: 86,176,591 (GRCm39)	F209L	probably damaging	Het
Or2ak6	T	C	11: 58,592,952 (GRCm39)	C142R	probably damaging	Het
Or4a73	A	G	2: 89,421,117 (GRCm39)	V114A	probably benign	Het
Or5k1	C	T	16: 58,617,607 (GRCm39)	V201I	probably benign	Het
Pipox	T	A	11: 77,782,943 (GRCm39)	L86F	probably damaging	Het
Polr3h	G	T	15: 81,801,406 (GRCm39)	L157I	probably benign	Het
Prex2	G	A	1: 11,336,376 (GRCm39)	V1525M	possibly damaging	Het
Rapgef2	A	T	3: 78,996,079 (GRCm39)	D561E	possibly damaging	Het
Sacs	A	T	14: 61,440,354 (GRCm39)	D800V	possibly damaging	Het
Sbsn	A	T	7: 30,451,655 (GRCm39)	L223F	possibly damaging	Het
Slc16a9	TCCCC	TCCCCC	10: 70,091,911 (GRCm39)		probably null	Het
Srrm3	G	T	5: 135,864,030 (GRCm39)	E43*	probably null	Het
Tmem138	A	G	19: 10,552,268 (GRCm39)	F78S	probably damaging	Het
Tnfrsf17	G	A	16: 11,137,676 (GRCm39)	D138N	probably damaging	Het
Tubgcp6	C	T	15: 88,986,568 (GRCm39)	V1344I	probably benign	Het
Usp24	T	A	4: 106,266,842 (GRCm39)	L1875*	probably null	Het
Vmn2r109	C	A	17: 20,774,798 (GRCm39)	G186C	probably damaging	Het
Zfp541	A	G	7: 15,810,373 (GRCm39)	N137D	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
R0135:Tcaf3	UTSW	6	42,566,692 (GRCm39)	missense	probably benign
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
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'- TCAAATTGAGACAGGGCTCTCC -3'
(R):5'- CTTTACACTGGCTGATGGGG -3'

Sequencing Primer
(F):5'- CCGAAAGTGATAGTTTGTCCCTTCAG -3'
(R):5'- ACAGGCAGAATTGGGTTAGCTTC -3'

Posted On

2014-11-12