Mutagenetix > Incidental Mutation

Incidental Mutation 'R0445:Zftraf1'

39337

Institutional Source

Beutler Lab

Gene Symbol

Zftraf1

Ensembl Gene

ENSMUSG00000053929

Gene Name

zinc finger TRAF type containing 1

Synonyms

Cyhr1, Chrp, 1110031M01Rik

MMRRC Submission

038646-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.274) question?

Stock #

R0445 (G1)

Quality Score

159

Status

Not validated

Chromosome

Chromosomal Location

76527586-76541120 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 76532457 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 217 (H217R)

Ref Sequence

ENSEMBL: ENSMUSP00000155816 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081291] [ENSMUST00000176274] [ENSMUST00000229524]

AlphaFold

Q9QXA1

Predicted Effect

probably damaging
Transcript: ENSMUST00000081291
AA Change: H129R

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

SMART Domains

Protein: ENSMUSP00000080043
Gene: ENSMUSG00000053929
AA Change: H129R

Domain	Start	End	E-Value	Type
SCOP:d1jm7a_	21	88	3e-5	SMART
Blast:RING	27	62	8e-15	BLAST

Predicted Effect

possibly damaging
Transcript: ENSMUST00000176274
AA Change: H217R

PolyPhen 2 Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000134739
Gene: ENSMUSG00000053929
AA Change: H217R

Domain	Start	End	E-Value	Type
low complexity region	3	48	N/A	INTRINSIC
low complexity region	78	91	N/A	INTRINSIC
RING	106	150	1.9e-1	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000229524
AA Change: H217R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229541

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229552

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.3%

Validation Efficiency

100% (77/77)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700067P10Rik	A	C	17: 48,400,542 (GRCm39)		probably null	Het
A2m	C	T	6: 121,634,914 (GRCm39)	T687I	probably damaging	Het
Acsbg1	A	G	9: 54,523,179 (GRCm39)	S483P	probably damaging	Het
Adam22	T	A	5: 8,230,591 (GRCm39)		probably benign	Het
Aggf1	A	G	13: 95,490,509 (GRCm39)	V595A	possibly damaging	Het
Aplf	A	T	6: 87,640,734 (GRCm39)	L71I	probably damaging	Het
Arid3c	G	T	4: 41,725,172 (GRCm39)	P292T	probably benign	Het
Bltp1	T	C	3: 37,054,214 (GRCm39)	V3111A	probably damaging	Het
Brms1l	T	A	12: 55,908,191 (GRCm39)	Y213*	probably null	Het
C87436	T	A	6: 86,426,832 (GRCm39)	S332T	possibly damaging	Het
Cad	G	A	5: 31,230,053 (GRCm39)	A1454T	probably benign	Het
Cdkn3	T	C	14: 47,004,857 (GRCm39)		probably null	Het
Cnot1	A	G	8: 96,486,836 (GRCm39)	C624R	probably damaging	Het
Cntnap5c	A	T	17: 58,411,738 (GRCm39)	I541F	probably benign	Het
Dennd1b	A	G	1: 139,095,503 (GRCm39)		probably benign	Het
Dscam	A	T	16: 96,573,703 (GRCm39)	I753N	probably damaging	Het
Eef2	C	CN	10: 81,014,604 (GRCm39)		probably null	Het
Epg5	T	A	18: 78,057,399 (GRCm39)	V1826D	possibly damaging	Het
Epha8	T	C	4: 136,659,711 (GRCm39)	Y755C	probably damaging	Het
Esco1	A	T	18: 10,574,989 (GRCm39)	N694K	probably damaging	Het
Fermt3	T	C	19: 6,980,667 (GRCm39)	H300R	probably benign	Het
Galnt5	C	A	2: 57,888,962 (GRCm39)	F187L	probably benign	Het
Gm17067	A	G	7: 42,358,046 (GRCm39)	I152T	probably benign	Het
Gnb3	T	C	6: 124,814,218 (GRCm39)	D154G	possibly damaging	Het
Gpr155	G	A	2: 73,200,488 (GRCm39)		probably benign	Het
Hdac3	A	G	18: 38,076,777 (GRCm39)	I240T	probably damaging	Het
Ifitm1	A	T	7: 140,548,354 (GRCm39)		probably null	Het
Kif1b	A	T	4: 149,272,466 (GRCm39)	L1455Q	probably benign	Het
Krt1	A	C	15: 101,756,056 (GRCm39)	L388R	probably damaging	Het
Lrp1	T	A	10: 127,426,505 (GRCm39)	K635*	probably null	Het
Map3k2	A	G	18: 32,350,263 (GRCm39)	Y371C	probably damaging	Het
Mcu	T	C	10: 59,292,467 (GRCm39)		probably benign	Het
Mkrn1	C	T	6: 39,381,788 (GRCm39)	V167I	probably benign	Het
Mrpl9	T	A	3: 94,352,198 (GRCm39)		probably benign	Het
Naip2	T	C	13: 100,298,395 (GRCm39)	Y547C	possibly damaging	Het
Nup88	G	A	11: 70,838,555 (GRCm39)	T487I	probably benign	Het
Oas3	G	A	5: 120,894,210 (GRCm39)	R39C	probably damaging	Het
Obscn	C	T	11: 58,890,161 (GRCm39)	R7457H	unknown	Het
Or13c25	G	A	4: 52,910,849 (GRCm39)	T315M	probably benign	Het
Or2y13	T	A	11: 49,414,784 (GRCm39)	V78E	probably damaging	Het
Paf1	T	C	7: 28,095,113 (GRCm39)	S118P	probably damaging	Het
Parp4	T	A	14: 56,840,205 (GRCm39)		probably null	Het
Pcdh15	A	T	10: 74,178,381 (GRCm39)	Y157F	probably damaging	Het
Pex10	G	A	4: 155,153,531 (GRCm39)		probably null	Het
Phrf1	C	T	7: 140,827,244 (GRCm39)		probably benign	Het
Polr3a	G	T	14: 24,504,989 (GRCm39)	D1090E	probably benign	Het
Ppfia4	A	C	1: 134,255,027 (GRCm39)	L276R	probably benign	Het
Rdh16f1	T	C	10: 127,626,736 (GRCm39)	L263S	probably benign	Het
Ryr3	T	C	2: 112,696,399 (GRCm39)	D967G	probably benign	Het
Shc1	G	T	3: 89,333,844 (GRCm39)	A226S	probably damaging	Het
Slc4a1	A	G	11: 102,245,192 (GRCm39)	V585A	probably benign	Het
Stk38l	T	A	6: 146,677,184 (GRCm39)	S461T	probably benign	Het
Tbkbp1	A	T	11: 97,040,295 (GRCm39)	S40T	probably damaging	Het
Tet1	A	G	10: 62,715,720 (GRCm39)	M25T	probably benign	Het
Themis	A	G	10: 28,658,007 (GRCm39)	R192G	probably damaging	Het
Tmem144	T	C	3: 79,732,661 (GRCm39)	T206A	probably benign	Het
Tmem74b	G	A	2: 151,548,879 (GRCm39)	R202H	probably damaging	Het
Trpm1	T	C	7: 63,894,590 (GRCm39)		probably benign	Het
Vars1	A	G	17: 35,230,785 (GRCm39)	H557R	probably benign	Het
Zbtb12	C	A	17: 35,115,277 (GRCm39)	A354E	possibly damaging	Het
Zfp143	A	T	7: 109,660,324 (GRCm39)		probably benign	Het

Other mutations in Zftraf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00093:Zftraf1	APN	15	76,530,738 (GRCm39)	missense	probably damaging	1.00
IGL03163:Zftraf1	APN	15	76,543,474 (GRCm39)	missense	probably damaging	0.97
R0107:Zftraf1	UTSW	15	76,530,547 (GRCm39)	missense	possibly damaging	0.90
R0759:Zftraf1	UTSW	15	76,530,385 (GRCm39)	makesense	probably null
R1327:Zftraf1	UTSW	15	76,533,376 (GRCm39)	missense	probably damaging	0.98
R1366:Zftraf1	UTSW	15	76,533,169 (GRCm39)	missense	probably damaging	0.96
R1950:Zftraf1	UTSW	15	76,543,417 (GRCm39)	critical splice donor site	probably null
R3416:Zftraf1	UTSW	15	76,542,915 (GRCm39)	splice site	probably null
R5092:Zftraf1	UTSW	15	76,530,512 (GRCm39)	missense	probably benign	0.11
R5749:Zftraf1	UTSW	15	76,542,844 (GRCm39)	splice site	probably null
R5860:Zftraf1	UTSW	15	76,540,615 (GRCm39)	missense	probably damaging	1.00
R5860:Zftraf1	UTSW	15	76,532,391 (GRCm39)	missense	probably damaging	1.00
R6032:Zftraf1	UTSW	15	76,543,058 (GRCm39)	missense	probably damaging	0.99
R6032:Zftraf1	UTSW	15	76,543,058 (GRCm39)	missense	probably damaging	0.99
R6397:Zftraf1	UTSW	15	76,532,391 (GRCm39)	missense	probably damaging	1.00
R6481:Zftraf1	UTSW	15	76,542,908 (GRCm39)	splice site	probably null
R6533:Zftraf1	UTSW	15	76,531,930 (GRCm39)	nonsense	probably null
R7466:Zftraf1	UTSW	15	76,532,386 (GRCm39)	missense	probably benign	0.29
R7484:Zftraf1	UTSW	15	76,530,435 (GRCm39)	missense	probably damaging	1.00
R7629:Zftraf1	UTSW	15	76,532,386 (GRCm39)	missense	probably benign	0.29
R7732:Zftraf1	UTSW	15	76,532,386 (GRCm39)	missense	probably benign	0.29
R7763:Zftraf1	UTSW	15	76,542,747 (GRCm39)	missense	probably damaging	0.99
R7861:Zftraf1	UTSW	15	76,532,386 (GRCm39)	missense	probably benign	0.29
R9300:Zftraf1	UTSW	15	76,530,541 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- ATAGGAGCCATGCAGGTACATCCC -3'
(R):5'- TGTGCTGCTGACATGTGCTCTAAG -3'

Sequencing Primer
(F):5'- ACTGCCCAGAGCCTACTG -3'
(R):5'- GCTGGCCTCACAATTCAGTG -3'

Posted On

2013-05-23