Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00656:Rbm39'

13786

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rbm39

Ensembl Gene

ENSMUSG00000027620

Gene Name

RNA binding motif protein 39

Synonyms

1500012C14Rik, 2310040E03Rik, caper, Caper alpha, Rnpc2, B330012G18Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00656

Quality Score

Status

Chromosome

Chromosomal Location

155989159-156022158 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 156004791 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 181 (V181A)

Ref Sequence

ENSEMBL: ENSMUSP00000116950 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029149] [ENSMUST00000109587] [ENSMUST00000126992] [ENSMUST00000146297] [ENSMUST00000142071] [ENSMUST00000155837] [ENSMUST00000146288] [ENSMUST00000153514]

AlphaFold

Q8VH51

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029149
AA Change: V182A

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000029149
Gene: ENSMUSG00000027620
AA Change: V182A

Domain	Start	End	E-Value	Type
low complexity region	28	90	N/A	INTRINSIC
low complexity region	117	136	N/A	INTRINSIC
RRM	154	226	2.5e-15	SMART
RRM	251	324	1.39e-31	SMART
low complexity region	332	345	N/A	INTRINSIC
low complexity region	369	380	N/A	INTRINSIC
low complexity region	397	416	N/A	INTRINSIC
RRM	419	498	9.44e-2	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109587
AA Change: V182A

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000105216
Gene: ENSMUSG00000027620
AA Change: V182A

Domain	Start	End	E-Value	Type
low complexity region	28	90	N/A	INTRINSIC
low complexity region	117	136	N/A	INTRINSIC
RRM	154	226	2.5e-15	SMART
RRM	251	324	1.39e-31	SMART
low complexity region	332	345	N/A	INTRINSIC
low complexity region	369	380	N/A	INTRINSIC
low complexity region	403	422	N/A	INTRINSIC
RRM	425	504	9.44e-2	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000126992
AA Change: V181A

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

SMART Domains

Protein: ENSMUSP00000116950
Gene: ENSMUSG00000027620
AA Change: V181A

Domain	Start	End	E-Value	Type
low complexity region	28	90	N/A	INTRINSIC
low complexity region	117	135	N/A	INTRINSIC
RRM	153	225	2.5e-15	SMART
PDB:2JRS\|A	239	273	9e-18	PDB
Blast:RRM	250	273	4e-9	BLAST
SCOP:d1l3ka1	250	273	9e-5	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130516

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131625

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135274

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138381

Predicted Effect

possibly damaging
Transcript: ENSMUST00000146297
AA Change: V182A

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000119298
Gene: ENSMUSG00000027620
AA Change: V182A

Domain	Start	End	E-Value	Type
low complexity region	28	90	N/A	INTRINSIC
low complexity region	117	136	N/A	INTRINSIC
RRM	154	226	2.5e-15	SMART
RRM	251	324	1.39e-31	SMART
low complexity region	332	345	N/A	INTRINSIC
low complexity region	369	380	N/A	INTRINSIC
low complexity region	397	416	N/A	INTRINSIC
RRM	419	498	9.44e-2	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000142071
AA Change: V182A

PolyPhen 2 Score 0.825 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000116820
Gene: ENSMUSG00000027620
AA Change: V182A

Domain	Start	End	E-Value	Type
low complexity region	28	90	N/A	INTRINSIC
low complexity region	117	136	N/A	INTRINSIC
RRM	154	226	2.5e-15	SMART
RRM	251	324	1.39e-31	SMART
Pfam:RBM39linker	339	404	3.8e-18	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000148794
AA Change: V43A

SMART Domains

Protein: ENSMUSP00000117462
Gene: ENSMUSG00000027620
AA Change: V43A

Domain	Start	End	E-Value	Type
RRM	16	88	2.5e-15	SMART
RRM	113	164	2.45e-9	SMART
Pfam:RBM39linker	181	282	6.9e-31	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150272

Predicted Effect

probably benign
Transcript: ENSMUST00000155837

Predicted Effect

probably benign
Transcript: ENSMUST00000146288

SMART Domains

Protein: ENSMUSP00000114824
Gene: ENSMUSG00000027620

Domain	Start	End	E-Value	Type
low complexity region	27	114	N/A	INTRINSIC
PDB:2CQ4\|A	115	156	2e-21	PDB
Blast:RRM	132	156	1e-9	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000153514

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 encodes a member of the U2AF65 family of proteins. The encoded protein is found in the nucleus, where it co-localizes with core spliceosomal proteins. It has been shown to play a role in both steroid hormone receptor-mediated transcription and alternative splicing, and it is also a transcriptional coregulator of the viral oncoprotein v-Rel. Multiple transcript variants have been observed for this gene. A related pseudogene has been identified on chromosome X. [provided by RefSeq, Aug 2011]
PHENOTYPE: Homozygous disruption of this locus results in embryonic lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 16 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Asns	A	T	6: 7,680,215 (GRCm39)		probably benign	Het
Atxn2	A	G	5: 121,933,118 (GRCm39)	I814V	probably benign	Het
Cfhr1	T	C	1: 139,475,493 (GRCm39)		probably benign	Het
Cyp3a57	A	G	5: 145,309,359 (GRCm39)	I232M	possibly damaging	Het
Ddx27	T	A	2: 166,861,886 (GRCm39)	D129E	probably benign	Het
Dld	A	G	12: 31,399,594 (GRCm39)		probably null	Het
Ibtk	A	G	9: 85,599,598 (GRCm39)		probably null	Het
Lrp3	T	C	7: 34,905,453 (GRCm39)		probably benign	Het
Mmp27	A	C	9: 7,581,383 (GRCm39)	T549P	possibly damaging	Het
Oas1d	A	G	5: 121,057,270 (GRCm39)	Y292C	possibly damaging	Het
Pdcd11	A	G	19: 47,086,609 (GRCm39)	D205G	probably damaging	Het
Spata31e2	A	G	1: 26,721,982 (GRCm39)	V1066A	possibly damaging	Het
Strbp	T	C	2: 37,493,150 (GRCm39)		probably benign	Het
Tor1aip1	T	C	1: 155,907,213 (GRCm39)	N187S	probably benign	Het
Ubqln3	T	C	7: 103,790,984 (GRCm39)	T369A	probably benign	Het
Unc13a	G	A	8: 72,095,791 (GRCm39)	A1242V	probably null	Het

Other mutations in Rbm39

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01473:Rbm39	APN	2	156,014,899 (GRCm39)	nonsense	probably null
R0040:Rbm39	UTSW	2	155,990,099 (GRCm39)	missense	possibly damaging	0.90
R1564:Rbm39	UTSW	2	155,996,177 (GRCm39)	missense	probably benign	0.01
R2888:Rbm39	UTSW	2	156,009,503 (GRCm39)	missense	probably benign	0.01
R4872:Rbm39	UTSW	2	156,019,266 (GRCm39)	missense	possibly damaging	0.94
R5124:Rbm39	UTSW	2	156,001,082 (GRCm39)	missense	probably damaging	0.99
R5125:Rbm39	UTSW	2	156,004,785 (GRCm39)	missense	probably damaging	0.99
R5843:Rbm39	UTSW	2	156,004,793 (GRCm39)	missense	possibly damaging	0.84
R6714:Rbm39	UTSW	2	156,003,538 (GRCm39)	missense	possibly damaging	0.82
R6820:Rbm39	UTSW	2	156,021,146 (GRCm39)	start codon destroyed	probably null	0.66
R6970:Rbm39	UTSW	2	156,009,504 (GRCm39)	missense	probably damaging	1.00
R8178:Rbm39	UTSW	2	155,996,195 (GRCm39)	missense	probably benign	0.00
R8701:Rbm39	UTSW	2	156,003,507 (GRCm39)	missense	probably damaging	1.00
R8909:Rbm39	UTSW	2	156,019,697 (GRCm39)	intron	probably benign
R8947:Rbm39	UTSW	2	155,990,276 (GRCm39)	missense	probably damaging	1.00
R9619:Rbm39	UTSW	2	156,001,117 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-12-06