Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02567:Rbm5'

298851

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rbm5

Ensembl Gene

ENSMUSG00000032580

Gene Name

RNA binding motif protein 5

Synonyms

D030069N10Rik

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.939) question?

Stock #

IGL02567

Quality Score

Status

Chromosome

Chromosomal Location

107740371-107770996 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 107744274 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 642 (D642G)

Ref Sequence

ENSEMBL: ENSMUSP00000035199 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035199] [ENSMUST00000182371] [ENSMUST00000182421] [ENSMUST00000182659]

AlphaFold

Q91YE7

PDB Structure

MHC CLASS I NATURAL MUTANT H-2KBM8 HEAVY CHAIN COMPLEXED WITH BETA-2 MICROGLOBULIN AND PBM8 PEPTIDE [X-RAY DIFFRACTION]
crystal structure of BM3.3 ScFV TCR in complex with PBM8-H-2KBM8 MHC class I molecule [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000035199
AA Change: D642G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000035199
Gene: ENSMUSG00000032580
AA Change: D642G

Domain	Start	End	E-Value	Type
low complexity region	21	74	N/A	INTRINSIC
RRM	99	174	5.98e-13	SMART
ZnF_RBZ	183	207	1.53e-6	SMART
RRM	232	311	9.5e-7	SMART
low complexity region	329	355	N/A	INTRINSIC
low complexity region	362	385	N/A	INTRINSIC
low complexity region	393	410	N/A	INTRINSIC
low complexity region	425	446	N/A	INTRINSIC
Blast:RRM_2	483	506	1e-5	BLAST
low complexity region	520	536	N/A	INTRINSIC
low complexity region	569	581	N/A	INTRINSIC
low complexity region	627	641	N/A	INTRINSIC
ZnF_C2H2	647	672	5.2e0	SMART
coiled coil region	673	707	N/A	INTRINSIC
G_patch	741	787	1.85e-21	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000182026
AA Change: D4G

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182215

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182332

Predicted Effect

probably benign
Transcript: ENSMUST00000182371

SMART Domains

Protein: ENSMUSP00000138119
Gene: ENSMUSG00000032580

Domain	Start	End	E-Value	Type
low complexity region	21	74	N/A	INTRINSIC
SCOP:d1h6kx_	96	138	6e-3	SMART
Blast:RRM	99	136	3e-19	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000182421

SMART Domains

Protein: ENSMUSP00000138778
Gene: ENSMUSG00000032580

Domain	Start	End	E-Value	Type
low complexity region	21	59	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000182659
AA Change: D643G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000138379
Gene: ENSMUSG00000032580
AA Change: D643G

Domain	Start	End	E-Value	Type
low complexity region	21	74	N/A	INTRINSIC
RRM	99	174	5.98e-13	SMART
ZnF_RBZ	183	207	1.53e-6	SMART
RRM	232	311	9.5e-7	SMART
low complexity region	329	355	N/A	INTRINSIC
low complexity region	362	385	N/A	INTRINSIC
low complexity region	393	410	N/A	INTRINSIC
low complexity region	425	446	N/A	INTRINSIC
Blast:RRM_2	483	506	1e-5	BLAST
low complexity region	520	536	N/A	INTRINSIC
low complexity region	569	581	N/A	INTRINSIC
low complexity region	627	641	N/A	INTRINSIC
ZnF_C2H2	647	672	5.2e0	SMART
coiled coil region	673	707	N/A	INTRINSIC
G_patch	741	787	1.85e-21	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182792

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183307

Predicted Effect

probably benign
Transcript: ENSMUST00000194400

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194801

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a candidate tumor suppressor gene which encodes a nuclear RNA binding protein that is a component of the spliceosome A complex. The encoded protein plays a role in the induction of cell cycle arrest and apoptosis through pre-mRNA splicing of multiple target genes including the tumor suppressor protein p53. This gene is located within the tumor suppressor region 3p21.3, and may play a role in the inhibition of tumor transformation and progression of several malignancies including lung cancer. [provided by RefSeq, Oct 2011]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit male infertility with azoospermia, male germ cell apoptosis, round spermatid arrest and spermatid differentiation arrest. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aff4	C	A	11: 53,372,751	S199R	possibly damaging	Het
Ano1	A	G	7: 144,611,625	L621P	probably damaging	Het
Calcr	C	T	6: 3,691,564	V404M	probably damaging	Het
Carmil3	A	G	14: 55,498,882	S635G	possibly damaging	Het
Ccl12	C	A	11: 82,102,621	S28R	possibly damaging	Het
Cdc45	C	T	16: 18,798,729	M200I	probably benign	Het
Cdhr3	T	C	12: 33,038,901	N761D	probably benign	Het
Col14a1	T	C	15: 55,344,961		probably null	Het
Col28a1	T	C	6: 8,014,819	K862R	possibly damaging	Het
Cyp2c66	C	T	19: 39,186,640		probably benign	Het
D5Ertd615e	T	C	5: 45,163,416		noncoding transcript	Het
Deup1	T	C	9: 15,575,283	E367G	probably damaging	Het
Dpp8	T	G	9: 65,078,776	Y849*	probably null	Het
Efhc1	T	A	1: 20,972,964	V369E	probably damaging	Het
Epg5	A	G	18: 78,033,073	Y2562C	probably damaging	Het
Fam189a1	T	A	7: 64,786,731	M101L	possibly damaging	Het
Fbln5	A	G	12: 101,761,800		probably null	Het
Frem1	A	T	4: 83,000,055	M551K	probably damaging	Het
Gba2	T	C	4: 43,567,281	S889G	probably benign	Het
Golph3	C	T	15: 12,349,421	R176*	probably null	Het
Got2	A	T	8: 95,872,201	F191Y	probably benign	Het
Gtf2ird2	G	T	5: 134,213,048		probably benign	Het
Hist4h4	G	A	6: 136,804,274	R36W	probably damaging	Het
Hivep3	A	G	4: 120,133,956	T2218A	probably damaging	Het
Htr1f	C	T	16: 64,926,248	G227D	probably benign	Het
Ifi202b	C	T	1: 173,963,804	S436N	possibly damaging	Het
Nf1	T	A	11: 79,547,143	V2109D	probably damaging	Het
Opa1	C	A	16: 29,588,286	D29E	probably benign	Het
Papln	C	T	12: 83,778,837	P631S	probably benign	Het
Pde4c	T	A	8: 70,747,921	M352K	probably benign	Het
Pigu	T	C	2: 155,331,192	T129A	possibly damaging	Het
Pla2g4c	T	A	7: 13,346,040	H424Q	probably damaging	Het
Ptpn13	T	G	5: 103,562,291	L1564R	probably damaging	Het
Rnf111	T	C	9: 70,459,005	T384A	probably damaging	Het
Scn11a	T	C	9: 119,804,489	T393A	probably damaging	Het
Sned1	A	T	1: 93,274,347	K619M	probably damaging	Het
Srrm1	G	A	4: 135,325,104	P658L	unknown	Het
Syt9	A	G	7: 107,436,661	Y295C	probably damaging	Het
Taar7f	T	A	10: 24,050,425	Y306N	probably damaging	Het
Tmem107	T	G	11: 69,071,019	L25V	possibly damaging	Het
Wdr24	T	G	17: 25,824,348	I48S	probably damaging	Het
Zc3hc1	T	C	6: 30,374,849	D231G	probably benign	Het
Zfp142	T	A	1: 74,578,147	S342C	possibly damaging	Het
Zfp142	T	G	1: 74,578,149	K341T	possibly damaging	Het
Zfp142	T	C	1: 74,578,150	K341E	possibly damaging	Het
Zfp804b	T	A	5: 6,769,989	I989L	probably benign	Het
Zfyve9	A	C	4: 108,674,523	V1095G	probably damaging	Het

Other mutations in Rbm5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02041:Rbm5	APN	9	107755846	unclassified	probably benign
IGL02319:Rbm5	APN	9	107743865	nonsense	probably null
IGL02868:Rbm5	APN	9	107749700	splice site	probably benign
IGL02943:Rbm5	APN	9	107744343	missense	probably damaging	1.00
IGL02959:Rbm5	APN	9	107754185	unclassified	probably benign
IGL03029:Rbm5	APN	9	107754453	missense	possibly damaging	0.46
PIT4403001:Rbm5	UTSW	9	107760336	missense	probably damaging	1.00
R0001:Rbm5	UTSW	9	107742424	missense	probably damaging	1.00
R0242:Rbm5	UTSW	9	107751708	splice site	probably benign
R1170:Rbm5	UTSW	9	107742497	missense	probably damaging	0.99
R1239:Rbm5	UTSW	9	107752966	unclassified	probably benign
R1297:Rbm5	UTSW	9	107744242	missense	probably damaging	1.00
R1719:Rbm5	UTSW	9	107743913	critical splice acceptor site	probably null
R1764:Rbm5	UTSW	9	107767564	nonsense	probably null
R1826:Rbm5	UTSW	9	107742414	missense	probably damaging	0.98
R1863:Rbm5	UTSW	9	107750519	missense	possibly damaging	0.70
R4112:Rbm5	UTSW	9	107765597	missense	probably damaging	1.00
R4207:Rbm5	UTSW	9	107750483	missense	probably benign
R4343:Rbm5	UTSW	9	107752196	missense	probably damaging	1.00
R4441:Rbm5	UTSW	9	107749688	intron	probably benign
R4621:Rbm5	UTSW	9	107754146	missense	probably damaging	1.00
R4767:Rbm5	UTSW	9	107745213	missense	probably damaging	1.00
R5090:Rbm5	UTSW	9	107760312	splice site	probably benign
R5404:Rbm5	UTSW	9	107765553	missense	probably damaging	1.00
R5876:Rbm5	UTSW	9	107760326	missense	probably damaging	1.00
R5959:Rbm5	UTSW	9	107752140	missense	probably benign	0.02
R5983:Rbm5	UTSW	9	107744942	missense	probably damaging	1.00
R5984:Rbm5	UTSW	9	107744942	missense	probably damaging	1.00
R7436:Rbm5	UTSW	9	107750394	splice site	probably null
R7447:Rbm5	UTSW	9	107746179	missense	probably damaging	1.00
R7867:Rbm5	UTSW	9	107751731	missense	probably benign	0.02
R9377:Rbm5	UTSW	9	107750053	missense	probably benign	0.07

Posted On

2015-04-16