Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02471:Rtraf'

294741

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rtraf

Ensembl Gene

ENSMUSG00000021807

Gene Name

RNA transcription, translation and transport factor

Synonyms

2700060E02Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02471

Quality Score

Status

Chromosome

Chromosomal Location

19861470-19873891 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 19862296 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 197 (L197R)

Ref Sequence

ENSEMBL: ENSMUSP00000022341 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022340] [ENSMUST00000022341]

AlphaFold

Q9CQE8

Predicted Effect

probably benign
Transcript: ENSMUST00000022340

SMART Domains

Protein: ENSMUSP00000022340
Gene: ENSMUSG00000021806

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
Blast:NIDO	39	77	3e-11	BLAST
NIDO	108	276	1.12e-72	SMART
low complexity region	421	430	N/A	INTRINSIC
low complexity region	452	470	N/A	INTRINSIC
EGF	510	547	1.84e1	SMART
G2F	548	780	4.36e-143	SMART
EGF	785	823	2.52e-2	SMART
EGF_CA	824	866	1.45e-11	SMART
EGF	874	914	3.15e-3	SMART
EGF_CA	915	953	5.03e-11	SMART
TY	988	1037	8.27e-20	SMART
TY	1068	1116	1.19e-20	SMART
LY	1162	1204	1.15e-5	SMART
LY	1206	1248	8.82e-16	SMART
LY	1249	1293	1.51e-14	SMART
LY	1294	1336	3.56e-11	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000022341
AA Change: L197R

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000022341
Gene: ENSMUSG00000021807
AA Change: L197R

Domain	Start	End	E-Value	Type
Pfam:RLL	2	244	3.4e-95	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224057

Predicted Effect

probably benign
Transcript: ENSMUST00000224263

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	G	T	1: 71,297,357 (GRCm39)	H2378N	probably benign	Het
Btaf1	C	A	19: 36,977,592 (GRCm39)	A1470E	probably damaging	Het
Ccdc110	A	G	8: 46,394,793 (GRCm39)	D228G	probably benign	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cldn18	T	C	9: 99,578,128 (GRCm39)	D205G	probably benign	Het
Clip2	T	C	5: 134,546,876 (GRCm39)	T231A	probably benign	Het
Cltc	A	G	11: 86,608,860 (GRCm39)	V723A	probably damaging	Het
Cpa3	C	T	3: 20,282,971 (GRCm39)		probably null	Het
Cyfip2	T	G	11: 46,091,630 (GRCm39)	T1097P	possibly damaging	Het
Dnah9	T	A	11: 65,838,444 (GRCm39)	R667*	probably null	Het
Dock10	T	C	1: 80,493,339 (GRCm39)	E1878G	probably damaging	Het
Ermap	G	A	4: 119,037,160 (GRCm39)	H353Y	probably damaging	Het
Etfa	A	T	9: 55,393,984 (GRCm39)		probably null	Het
F5	C	T	1: 164,001,860 (GRCm39)	P188S	probably damaging	Het
Foxq1	G	A	13: 31,743,326 (GRCm39)	E143K	possibly damaging	Het
Gsr	C	T	8: 34,172,612 (GRCm39)		probably benign	Het
Hebp1	T	A	6: 135,132,274 (GRCm39)	Y31F	probably benign	Het
Ighv1-14	T	C	12: 114,610,457 (GRCm39)		noncoding transcript	Het
Lamb1	T	A	12: 31,370,907 (GRCm39)	D1319E	probably damaging	Het
Lrp5	A	T	19: 3,652,408 (GRCm39)	V1154E	probably benign	Het
Manba	G	A	3: 135,212,769 (GRCm39)		probably benign	Het
Mknk2	A	T	10: 80,503,955 (GRCm39)	F319I	probably damaging	Het
Mup6	A	T	4: 60,003,971 (GRCm39)		probably benign	Het
Nalcn	T	C	14: 123,560,726 (GRCm39)	T784A	probably benign	Het
Nt5dc1	T	C	10: 34,279,721 (GRCm39)	E107G	probably benign	Het
Or11h6	A	T	14: 50,880,214 (GRCm39)	I159F	probably benign	Het
Or56b34	T	A	7: 104,938,252 (GRCm39)	F317L	probably benign	Het
Or9q2	G	A	19: 13,772,589 (GRCm39)	P129S	probably damaging	Het
Phldb1	T	C	9: 44,622,530 (GRCm39)	E41G	probably damaging	Het
Ptk2	T	C	15: 73,170,036 (GRCm39)	D309G	probably benign	Het
Rab11fip5	A	G	6: 85,325,207 (GRCm39)	S367P	probably damaging	Het
Rb1cc1	T	A	1: 6,310,275 (GRCm39)	N224K	probably benign	Het
Rchy1	A	T	5: 92,105,405 (GRCm39)	C65*	probably null	Het
Rgs18	T	C	1: 144,650,359 (GRCm39)	D56G	probably benign	Het
Slc44a5	G	T	3: 153,962,213 (GRCm39)	W382L	probably damaging	Het
Snx24	C	T	18: 53,518,241 (GRCm39)		probably benign	Het
Sphkap	T	C	1: 83,253,897 (GRCm39)	D1284G	probably damaging	Het
Tmem54	A	G	4: 129,002,111 (GRCm39)	M53V	probably benign	Het
Trip6	G	A	5: 137,308,618 (GRCm39)	P414S	probably benign	Het
Vmn1r38	A	G	6: 66,753,751 (GRCm39)	Y122H	probably benign	Het
Wapl	T	A	14: 34,413,877 (GRCm39)	N246K	possibly damaging	Het
Zfp12	G	A	5: 143,230,551 (GRCm39)	G293R	probably damaging	Het
Zfp13	C	T	17: 23,795,072 (GRCm39)	A493T	probably benign	Het
Zfp446	T	G	7: 12,716,181 (GRCm39)	V209G	probably benign	Het
Zfp518a	G	A	19: 40,903,061 (GRCm39)	G997R	probably damaging	Het

Other mutations in Rtraf

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02971:Rtraf	APN	14	19,866,260 (GRCm39)	missense	possibly damaging	0.95
R0326:Rtraf	UTSW	14	19,864,600 (GRCm39)	splice site	probably null
R0601:Rtraf	UTSW	14	19,866,274 (GRCm39)	missense	possibly damaging	0.57
R1716:Rtraf	UTSW	14	19,862,242 (GRCm39)	missense	probably damaging	1.00
R4628:Rtraf	UTSW	14	19,867,155 (GRCm39)	missense	probably benign	0.19
R4816:Rtraf	UTSW	14	19,872,644 (GRCm39)	missense	probably benign
R4917:Rtraf	UTSW	14	19,873,784 (GRCm39)	missense	probably damaging	1.00
R6519:Rtraf	UTSW	14	19,869,998 (GRCm39)	missense	possibly damaging	0.64
R8059:Rtraf	UTSW	14	19,872,631 (GRCm39)	splice site	probably benign
R9763:Rtraf	UTSW	14	19,866,314 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16