Mutagenetix > Incidental Mutation

Incidental Mutation 'R1185:Tcaf3'

200851

Institutional Source

Beutler Lab

Gene Symbol

Tcaf3

Ensembl Gene

ENSMUSG00000018656

Gene Name

TRPM8 channel-associated factor 3

Synonyms

Eapa2, Fam115e

MMRRC Submission

039257-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.049) question?

Stock #

R1185 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

42564147-42574306 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 42568368 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 663 (T663A)

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: T663A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000064060
Gene: ENSMUSG00000018656
AA Change: T663A

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

0.6467

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.4%
20x: 92.9%

Validation Efficiency

96% (45/47)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ac165356.1	C	T	7: 105,682,686 (GRCm39)	A190T	probably benign	Het
Aimp2	A	G	5: 143,841,509 (GRCm39)	S110P	possibly damaging	Het
Akap9	A	G	5: 3,998,783 (GRCm39)	T51A	probably benign	Het
Arhgef25	A	G	10: 127,019,650 (GRCm39)	F430L	possibly damaging	Het
Brap	T	C	5: 121,813,342 (GRCm39)	V235A	probably damaging	Het
Cd69	C	T	6: 129,247,148 (GRCm39)	G23D	probably damaging	Het
Cecr2	C	T	6: 120,735,166 (GRCm39)	R24*	probably null	Het
Celsr2	T	C	3: 108,307,025 (GRCm39)	D1974G	possibly damaging	Het
Cps1	A	G	1: 67,234,358 (GRCm39)	K915R	probably benign	Het
Csmd1	T	C	8: 16,408,362 (GRCm39)	D401G	probably damaging	Het
Dusp13b	A	G	14: 21,785,086 (GRCm39)	F141S	probably damaging	Het
Eif1ad19	A	G	12: 87,740,478 (GRCm39)	V27A	probably benign	Het
Fam162b	A	G	10: 51,466,439 (GRCm39)	W27R	probably benign	Het
Focad	A	G	4: 88,096,424 (GRCm39)	T269A	probably benign	Het
Ghr	T	A	15: 3,357,544 (GRCm39)	R241S	possibly damaging	Het
Hirip3	AAGAG	AAG	7: 126,462,832 (GRCm39)		probably null	Het
Ift70a1	A	T	2: 75,810,696 (GRCm39)	N462K	probably damaging	Het
Itgb2l	A	G	16: 96,230,240 (GRCm39)	Y357H	possibly damaging	Het
Jrkl	T	C	9: 13,244,938 (GRCm39)	D241G	possibly damaging	Het
Lmod1	A	G	1: 135,291,967 (GRCm39)	D274G	probably benign	Het
Lrrn2	A	G	1: 132,866,959 (GRCm39)	S675G	probably benign	Het
Ltbp4	G	C	7: 27,009,960 (GRCm39)	P1200R	probably damaging	Het
Mdn1	T	C	4: 32,735,576 (GRCm39)	L3414P	possibly damaging	Het
Muc19	A	G	15: 91,762,743 (GRCm39)		noncoding transcript	Het
Myo16	T	A	8: 10,683,624 (GRCm39)	S1856T	probably damaging	Het
Neb	A	G	2: 52,186,310 (GRCm39)	Y921H	probably damaging	Het
Or2n1c	T	A	17: 38,520,074 (GRCm39)	*313R	probably null	Het
Pgap3	T	C	11: 98,281,960 (GRCm39)	D117G	probably damaging	Het
Ppp1r9b	T	C	11: 94,892,812 (GRCm39)	F671L	possibly damaging	Het
Purg	T	G	8: 33,876,897 (GRCm39)	Y178*	probably null	Het
Rsph10b	G	A	5: 143,903,280 (GRCm39)		probably benign	Het
Sorbs1	T	A	19: 40,371,050 (GRCm39)	D79V	probably damaging	Het
Timd4	C	A	11: 46,708,475 (GRCm39)	T167K	probably damaging	Het
Tjp2	A	G	19: 24,108,527 (GRCm39)	L195P	possibly damaging	Het
Tnr	G	A	1: 159,679,856 (GRCm39)	A277T	probably benign	Het
Trpm3	G	A	19: 22,891,781 (GRCm39)		probably benign	Het
Unc13a	C	T	8: 72,114,477 (GRCm39)	G181D	probably benign	Het
Vmn1r11	T	A	6: 57,114,492 (GRCm39)	L52Q	possibly damaging	Het
Zfp27	T	C	7: 29,595,254 (GRCm39)	D237G	possibly damaging	Het
Zfp39	T	C	11: 58,793,670 (GRCm39)	T23A	possibly damaging	Het
Zfp459	T	G	13: 67,556,600 (GRCm39)	N161T	probably benign	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
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'- CAGGTGGATGGAAAGTCAACTCTCAG -3'
(R):5'- GGGTAAGTAGGAAACCCAGTTTCAGTG -3'

Sequencing Primer
(F):5'- TGGAAAGTCAACTCTCAGAACATTC -3'
(R):5'- TGGGCCAAGCTAGGTAACTT -3'

Posted On

2014-05-23