Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02943:Rbm5'

364576

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: 0.950) question?

Stock #

IGL02943

Quality Score

Status

Chromosome

Chromosomal Location

107740371-107770996 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 107744343 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 620 (Y620C)

Ref Sequence

ENSEMBL: ENSMUSP00000138379 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000035199
AA Change: Y619C

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

SMART Domains

Protein: ENSMUSP00000035199
Gene: ENSMUSG00000032580
AA Change: Y619C

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

probably benign
Transcript: ENSMUST00000182026

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: Y620C

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

SMART Domains

Protein: ENSMUSP00000138379
Gene: ENSMUSG00000032580
AA Change: Y620C

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530053A07Rik	A	G	7: 28,147,188	R1102G	probably damaging	Het
Akp3	T	A	1: 87,126,369	Y236*	probably null	Het
Ankrd13c	C	T	3: 157,947,927	T134M	probably damaging	Het
Arhgef18	T	C	8: 3,448,553	S529P	probably damaging	Het
Cdkl2	T	A	5: 92,037,244	N96I	possibly damaging	Het
Cep57	A	T	9: 13,818,853		probably benign	Het
Chchd7	T	C	4: 3,942,796	Y44H	probably damaging	Het
Ciart	T	C	3: 95,879,002	I254V	possibly damaging	Het
Cyp2a12	T	C	7: 27,032,542	I236T	probably benign	Het
Dlgap5	A	G	14: 47,412,976		probably null	Het
Ednra	T	A	8: 77,720,054	I132F	probably damaging	Het
En2	T	C	5: 28,166,526		probably benign	Het
Fsip2	C	A	2: 82,992,357	Q6145K	probably benign	Het
Galnt5	A	T	2: 57,999,768	D460V	probably damaging	Het
Gm6401	C	T	14: 41,966,894	E73K	possibly damaging	Het
Gpr84	T	C	15: 103,308,889	I254V	probably benign	Het
Hacd3	A	T	9: 64,990,436	I298N	probably damaging	Het
Hyal6	T	A	6: 24,743,439	V378E	probably damaging	Het
Il20rb	G	T	9: 100,466,252	H210N	probably benign	Het
Iqgap2	A	G	13: 95,661,735		probably benign	Het
Itga1	C	T	13: 115,049,296	E57K	possibly damaging	Het
Jmjd1c	T	A	10: 67,219,654	D571E	probably damaging	Het
Kmt2c	T	C	5: 25,290,823	S623G	probably damaging	Het
L3mbtl2	T	A	15: 81,686,255	S645T	possibly damaging	Het
Lrp2	A	G	2: 69,455,510	V3779A	possibly damaging	Het
Lrpprc	T	C	17: 84,771,450	R279G	probably benign	Het
Lurap1l	A	G	4: 80,953,635	K122E	probably damaging	Het
Met	T	C	6: 17,535,929	Y785H	possibly damaging	Het
Myh3	T	C	11: 67,091,065	F796L	probably benign	Het
Myo16	T	C	8: 10,400,595		probably benign	Het
Nedd4l	T	C	18: 65,161,652		probably null	Het
Nlrp4c	T	C	7: 6,065,975	C292R	probably damaging	Het
Nmnat1	A	G	4: 149,473,288	L99P	probably damaging	Het
Olfr340	A	T	2: 36,453,039	L151F	probably benign	Het
Olfr488	A	G	7: 108,255,416	F241L	possibly damaging	Het
Pclo	T	C	5: 14,669,221	V1124A	unknown	Het
Phf20l1	A	G	15: 66,594,884	Y54C	probably damaging	Het
Postn	T	C	3: 54,377,608		probably null	Het
Ppp2r1b	A	G	9: 50,883,585	D570G	probably damaging	Het
Prdm2	A	C	4: 143,131,972	S1583A	probably benign	Het
Proser1	T	C	3: 53,479,103	V802A	probably damaging	Het
Ptprc	A	T	1: 138,099,513	N532K	probably damaging	Het
Ptprk	A	G	10: 28,475,176	H555R	possibly damaging	Het
Ranbp6	T	C	19: 29,812,124	D276G	possibly damaging	Het
Rasgrf2	A	G	13: 91,983,633	V635A	probably damaging	Het
Sall1	C	T	8: 89,031,121	R785H	probably damaging	Het
Slc22a2	G	T	17: 12,610,061	L351F	probably damaging	Het
Sorcs3	A	T	19: 48,759,938	Q782L	probably benign	Het
Sphkap	A	T	1: 83,276,831	S779T	probably damaging	Het
Stxbp2	A	T	8: 3,641,971	I538F	probably benign	Het
Tas2r107	T	A	6: 131,659,406	M227L	probably damaging	Het
Tecpr2	C	T	12: 110,967,749	T1281I	probably benign	Het
Topbp1	T	A	9: 103,328,440	V759E	probably benign	Het
Trim2	T	C	3: 84,178,176	T504A	probably benign	Het
Trpc1	A	G	9: 95,708,853		probably benign	Het
Tssk4	T	A	14: 55,651,566	V183E	probably damaging	Het
Vmn1r202	T	C	13: 22,502,194	T18A	probably benign	Het
Vmn1r225	T	C	17: 20,502,305	S3P	possibly damaging	Het
Vmn2r101	T	A	17: 19,611,404	V554E	probably damaging	Het
Vps13a	T	C	19: 16,663,886	I2291V	probably damaging	Het
Vps39	A	G	2: 120,339,487	S195P	possibly damaging	Het
Zfand4	T	A	6: 116,273,876		probably benign	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
IGL02567:Rbm5	APN	9	107744274	missense	probably damaging	1.00
IGL02868:Rbm5	APN	9	107749700	splice site	probably benign
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

Posted On

2015-12-18