Mutagenetix > Incidental Mutation

Incidental Mutation 'R6032:Zftraf1'

486350

Institutional Source

Beutler Lab

Gene Symbol

Zftraf1

Ensembl Gene

ENSMUSG00000053929

Gene Name

zinc finger TRAF type containing 1

Synonyms

Cyhr1, Chrp, 1110031M01Rik

MMRRC Submission

044204-MU

Accession Numbers

Essential gene?

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

Stock #

R6032 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

76527586-76541120 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 76543058 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 34 (R34Q)

Ref Sequence

ENSEMBL: ENSMUSP00000155579 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004294] [ENSMUST00000066677] [ENSMUST00000081291] [ENSMUST00000176274] [ENSMUST00000177359] [ENSMUST00000229524] [ENSMUST00000231152] [ENSMUST00000230451] [ENSMUST00000230964]

AlphaFold

Q9QXA1

Predicted Effect

probably benign
Transcript: ENSMUST00000004294

SMART Domains

Protein: ENSMUSP00000004294
Gene: ENSMUSG00000004187

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
low complexity region	36	45	N/A	INTRINSIC
low complexity region	117	129	N/A	INTRINSIC
low complexity region	179	192	N/A	INTRINSIC
coiled coil region	195	235	N/A	INTRINSIC
coiled coil region	274	345	N/A	INTRINSIC
KISc	407	740	3.21e-141	SMART
low complexity region	745	781	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000066677
AA Change: R34Q

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000063317
Gene: ENSMUSG00000053929
AA Change: R34Q

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC
transmembrane domain	35	52	N/A	INTRINSIC
transmembrane domain	62	84	N/A	INTRINSIC
transmembrane domain	91	108	N/A	INTRINSIC
transmembrane domain	113	135	N/A	INTRINSIC
low complexity region	151	163	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000081291

SMART Domains

Protein: ENSMUSP00000080043
Gene: ENSMUSG00000053929

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

Predicted Effect

probably benign
Transcript: ENSMUST00000176274

SMART Domains

Protein: ENSMUSP00000134739
Gene: ENSMUSG00000053929

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: ENSMUST00000177359
AA Change: R34Q

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000135505
Gene: ENSMUSG00000053929
AA Change: R34Q

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC
transmembrane domain	35	52	N/A	INTRINSIC
transmembrane domain	62	84	N/A	INTRINSIC
transmembrane domain	91	108	N/A	INTRINSIC
transmembrane domain	113	135	N/A	INTRINSIC
low complexity region	151	163	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229112

Predicted Effect

probably benign
Transcript: ENSMUST00000229524

Predicted Effect

probably damaging
Transcript: ENSMUST00000231152
AA Change: R34Q

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230719

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229541

Predicted Effect

probably benign
Transcript: ENSMUST00000230451

Predicted Effect

probably benign
Transcript: ENSMUST00000230964

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230124

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.0%

Validation Efficiency

98% (54/55)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,376,349 (GRCm39)	V173M	probably damaging	Het
A2ml1	T	A	6: 128,526,799 (GRCm39)	K1071*	probably null	Het
Abca13	G	T	11: 9,247,752 (GRCm39)	V2500F	possibly damaging	Het
Adamdec1	T	C	14: 68,816,633 (GRCm39)	E85G	probably damaging	Het
Aldh8a1	T	C	10: 21,264,970 (GRCm39)	V199A	probably benign	Het
Aoc2	G	A	11: 101,216,627 (GRCm39)	V237M	probably damaging	Het
Aplp2	C	T	9: 31,062,240 (GRCm39)	R672H	probably damaging	Het
Apob	A	G	12: 8,045,513 (GRCm39)	N886S	probably benign	Het
Ascc3	C	T	10: 50,718,279 (GRCm39)	R1991*	probably null	Het
Atp6v1a	T	C	16: 43,927,303 (GRCm39)	Y328C	probably damaging	Het
Bag4	T	C	8: 26,267,521 (GRCm39)	Y103C	probably damaging	Het
Crem	C	T	18: 3,267,673 (GRCm39)	R190Q	probably damaging	Het
Crybg1	A	G	10: 43,832,756 (GRCm39)	S2000P	probably damaging	Het
Cubn	T	A	2: 13,329,995 (GRCm39)	T2629S	probably benign	Het
Cyp3a44	G	T	5: 145,714,756 (GRCm39)	S465Y	probably damaging	Het
Daam2	A	C	17: 49,793,525 (GRCm39)	F331V	probably damaging	Het
Dnajc3	T	C	14: 119,205,443 (GRCm39)	S146P	possibly damaging	Het
Dscam	A	G	16: 96,451,191 (GRCm39)		probably null	Het
Fam184b	G	A	5: 45,740,238 (GRCm39)	S316L	probably benign	Het
Fat2	G	C	11: 55,144,760 (GRCm39)	T4038S	probably damaging	Het
Fbxl19	C	T	7: 127,360,437 (GRCm39)	R439C	probably damaging	Het
Gm3454	T	A	15: 75,183,448 (GRCm39)		noncoding transcript	Het
Gpatch3	A	G	4: 133,305,617 (GRCm39)	E284G	probably benign	Het
Grm1	A	T	10: 10,595,549 (GRCm39)	I693N	probably damaging	Het
Gsdme	T	A	6: 50,222,934 (GRCm39)	Q127L	probably damaging	Het
Ifnlr1	A	G	4: 135,432,937 (GRCm39)	K458E	probably benign	Het
Kcns2	T	C	15: 34,839,080 (GRCm39)	F148L	probably benign	Het
Lama1	A	G	17: 68,057,638 (GRCm39)	T571A	probably benign	Het
Loxhd1	G	A	18: 77,469,254 (GRCm39)	V108M	probably damaging	Het
Mef2c	A	T	13: 83,810,478 (GRCm39)	T375S	probably benign	Het
Ncor1	A	T	11: 62,264,147 (GRCm39)	D144E	possibly damaging	Het
Nos3	A	T	5: 24,584,809 (GRCm39)	T738S	probably benign	Het
Nrxn2	A	T	19: 6,567,162 (GRCm39)	T1353S	probably damaging	Het
Or2b7	G	T	13: 21,740,077 (GRCm39)	S38R	probably benign	Het
Or4f4b	T	C	2: 111,314,195 (GRCm39)	L140P	probably damaging	Het
Or8g17	A	G	9: 38,930,261 (GRCm39)	I192T	probably benign	Het
Pfpl	A	G	19: 12,406,747 (GRCm39)	T333A	probably damaging	Het
Postn	A	T	3: 54,284,137 (GRCm39)	I565F	possibly damaging	Het
Ppef2	A	G	5: 92,378,383 (GRCm39)	V604A	probably benign	Het
Pramel13	A	C	4: 144,119,598 (GRCm39)	I323S	possibly damaging	Het
Prmt1	A	G	7: 44,626,526 (GRCm39)		probably null	Het
Rel	A	G	11: 23,692,684 (GRCm39)	S450P	probably benign	Het
Rpap2	A	C	5: 107,745,661 (GRCm39)	D3A	probably damaging	Het
Shisa9	T	C	16: 11,802,772 (GRCm39)	F110L	possibly damaging	Het
Slc25a10	A	T	11: 120,385,784 (GRCm39)		probably null	Het
Slx4	A	T	16: 3,798,021 (GRCm39)	F1454L	probably damaging	Het
Smc1b	A	T	15: 84,950,430 (GRCm39)	V1198D	possibly damaging	Het
Supt5	T	C	7: 28,015,600 (GRCm39)	Y879C	probably damaging	Het
Tbx15	T	C	3: 99,259,833 (GRCm39)	M568T	probably benign	Het
Tle4	T	C	19: 14,429,472 (GRCm39)	H698R	possibly damaging	Het
Trappc9	T	C	15: 72,797,379 (GRCm39)	N803D	probably benign	Het
Trim10	A	T	17: 37,182,606 (GRCm39)	R157S	possibly damaging	Het
Wsb1	T	C	11: 79,131,025 (GRCm39)		probably benign	Het
Zfp106	T	C	2: 120,365,874 (GRCm39)	S178G	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
R0445:Zftraf1	UTSW	15	76,532,457 (GRCm39)	missense	probably damaging	1.00
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
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'- TGCAACCACCAGCAGTACTG -3'
(R):5'- GACTGAATGGAGCACTGTCC -3'

Sequencing Primer
(F):5'- TCCTCCCAGAAGCAGGTTG -3'
(R):5'- CTGGAACTCACTTTGTAGACCAGG -3'

Posted On

2017-08-16