Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01088:Rbm7'

51894

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rbm7

Ensembl Gene

ENSMUSG00000042396

Gene Name

RNA binding motif protein 7

Synonyms

1500011D06Rik, 1200007M24Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.135) question?

Stock #

IGL01088

Quality Score

Status

Chromosome

Chromosomal Location

48400001-48406599 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 48402149 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 146 (V146A)

Ref Sequence

ENSEMBL: ENSMUSP00000126374 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048824] [ENSMUST00000170000] [ENSMUST00000213276] [ENSMUST00000214923]

AlphaFold

Q9CQT2

Predicted Effect

probably benign
Transcript: ENSMUST00000048824

SMART Domains

Protein: ENSMUSP00000040380
Gene: ENSMUSG00000042293

Domain	Start	End	E-Value	Type
Pfam:DUF4687	1	106	1.3e-44	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000170000
AA Change: V146A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000126374
Gene: ENSMUSG00000042396
AA Change: V146A

Domain	Start	End	E-Value	Type
RRM	11	83	4.59e-23	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000213276
AA Change: V146A

PolyPhen 2 Score 0.574 (Sensitivity: 0.88; Specificity: 0.91)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213525

Predicted Effect

probably benign
Transcript: ENSMUST00000214923

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr6	C	T	10: 89,561,703 (GRCm39)	V148I	probably damaging	Het
Aspn	G	T	13: 49,720,029 (GRCm39)	K348N	probably benign	Het
C1qtnf9	T	C	14: 61,017,205 (GRCm39)	V245A	probably benign	Het
Cfhr4	T	C	1: 139,625,823 (GRCm39)		probably benign	Het
Chd4	T	C	6: 125,099,431 (GRCm39)		probably benign	Het
Clcn3	A	T	8: 61,390,381 (GRCm39)	C187S	probably damaging	Het
Dcxr	T	C	11: 120,616,993 (GRCm39)	I123M	possibly damaging	Het
Fstl1	T	C	16: 37,647,175 (GRCm39)	Y182H	probably damaging	Het
Ghrhr	T	C	6: 55,356,178 (GRCm39)		probably null	Het
Gpr179	T	C	11: 97,228,627 (GRCm39)	E1176G	probably damaging	Het
H2-T22	A	G	17: 36,352,811 (GRCm39)	S99P	probably damaging	Het
Igkv4-79	T	A	6: 69,020,110 (GRCm39)	K68N	probably damaging	Het
Kpna6	C	T	4: 129,549,276 (GRCm39)	V169I	probably damaging	Het
Krit1	G	T	5: 3,862,844 (GRCm39)	V278F	probably damaging	Het
Mrpl4	T	C	9: 20,914,627 (GRCm39)	S68P	probably damaging	Het
Mylk3	A	C	8: 86,078,586 (GRCm39)		probably null	Het
Nfasc	A	T	1: 132,570,514 (GRCm39)		probably benign	Het
Ntsr1	T	C	2: 180,184,335 (GRCm39)	F346S	probably damaging	Het
Or10ak11	A	G	4: 118,686,989 (GRCm39)	V216A	probably benign	Het
Or5b107	T	C	19: 13,142,735 (GRCm39)	M119T	probably damaging	Het
Phox2a	T	C	7: 101,470,942 (GRCm39)	F145L	probably damaging	Het
Sall3	A	T	18: 81,016,447 (GRCm39)	Y494N	probably damaging	Het
Ssbp1	T	A	6: 40,455,004 (GRCm39)		probably benign	Het
Stard7	T	C	2: 127,112,746 (GRCm39)	L4P	probably damaging	Het
Stk-ps2	A	T	1: 46,069,010 (GRCm39)		noncoding transcript	Het
Tmem67	G	A	4: 12,063,126 (GRCm39)	R507C	probably damaging	Het
Unc13c	A	T	9: 73,839,563 (GRCm39)	D429E	possibly damaging	Het
Unc93b1	A	G	19: 3,985,356 (GRCm39)		probably null	Het
Vmn1r171	T	C	7: 23,332,252 (GRCm39)	V159A	probably damaging	Het
Zfp608	T	C	18: 55,031,159 (GRCm39)	E927G	probably benign	Het
Zfp820	T	A	17: 22,040,162 (GRCm39)	K16*	probably null	Het
Zgrf1	T	C	3: 127,381,790 (GRCm39)		probably benign	Het

Other mutations in Rbm7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02318:Rbm7	APN	9	48,405,411 (GRCm39)	missense	probably damaging	1.00
IGL03290:Rbm7	APN	9	48,401,267 (GRCm39)	missense	probably benign
R1432:Rbm7	UTSW	9	48,401,245 (GRCm39)	missense	probably benign	0.07
R1480:Rbm7	UTSW	9	48,401,016 (GRCm39)	missense	probably benign
R1681:Rbm7	UTSW	9	48,401,021 (GRCm39)	missense	possibly damaging	0.93
R1848:Rbm7	UTSW	9	48,402,194 (GRCm39)	missense	probably benign	0.08
R4790:Rbm7	UTSW	9	48,406,474 (GRCm39)	missense	probably damaging	1.00
R8677:Rbm7	UTSW	9	48,401,273 (GRCm39)	nonsense	probably null
R9341:Rbm7	UTSW	9	48,400,969 (GRCm39)	missense	probably damaging	0.97
R9343:Rbm7	UTSW	9	48,400,969 (GRCm39)	missense	probably damaging	0.97
Z1177:Rbm7	UTSW	9	48,401,195 (GRCm39)	missense	probably damaging	0.97

Posted On

2013-06-21