Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01370:Rbm15'

76124

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rbm15

Ensembl Gene

ENSMUSG00000048109

Gene Name

RNA binding motif protein 15

Synonyms

C230088J01Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01370

Quality Score

Status

Chromosome

Chromosomal Location

107232737-107240989 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 107238326 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 691 (S691P)

Ref Sequence

ENSEMBL: ENSMUSP00000054424 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061772]

AlphaFold

Q0VBL3

Predicted Effect

probably damaging
Transcript: ENSMUST00000061772
AA Change: S691P

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000054424
Gene: ENSMUSG00000048109
AA Change: S691P

Domain	Start	End	E-Value	Type
low complexity region	6	22	N/A	INTRINSIC
low complexity region	56	96	N/A	INTRINSIC
low complexity region	114	129	N/A	INTRINSIC
low complexity region	133	163	N/A	INTRINSIC
RRM	170	247	7.49e-5	SMART
low complexity region	268	278	N/A	INTRINSIC
low complexity region	284	296	N/A	INTRINSIC
low complexity region	313	330	N/A	INTRINSIC
RRM	374	446	1.33e-10	SMART
RRM	455	524	2.51e-6	SMART
low complexity region	532	542	N/A	INTRINSIC
low complexity region	564	582	N/A	INTRINSIC
low complexity region	592	606	N/A	INTRINSIC
internal_repeat_2	613	685	7.13e-5	PROSPERO
internal_repeat_2	677	753	7.13e-5	PROSPERO
low complexity region	754	771	N/A	INTRINSIC
Pfam:SPOC	789	925	1.7e-33	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197769

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the SPEN (Split-end) family of proteins, including RBM15, have repressor function in several signaling pathways and may bind to RNA through interaction with spliceosome components (Hiriart et al., 2005 [PubMed 16129689]).[supplied by OMIM, Feb 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality around E9.5. Mice homozygous for a floxed allele activate in hematopoietic cells exhibit increased megakaryocyte cell number, long-term hematopoietic stem cells, and red pulp as well as decreased B cells and leukocytes. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adck1	A	T	12: 88,423,503 (GRCm39)		probably benign	Het
Add1	C	T	5: 34,787,859 (GRCm39)	T210I	probably damaging	Het
Ajm1	T	C	2: 25,468,969 (GRCm39)	E314G	possibly damaging	Het
Alpk2	A	T	18: 65,483,662 (GRCm39)	D115E	possibly damaging	Het
Ankrd36	C	T	11: 5,534,019 (GRCm39)	T290I	probably benign	Het
Bltp1	T	A	3: 37,001,904 (GRCm39)	I1283N	probably benign	Het
Castor2	T	C	5: 134,167,111 (GRCm39)	V323A	probably benign	Het
Ccnt2	T	C	1: 127,731,250 (GRCm39)	F709S	possibly damaging	Het
Erc1	T	C	6: 119,801,426 (GRCm39)	E197G	probably damaging	Het
Ftsj3	G	T	11: 106,143,145 (GRCm39)	R390S	possibly damaging	Het
Gabrb3	G	A	7: 57,466,226 (GRCm39)	A347T	probably benign	Het
Gde1	A	G	7: 118,288,383 (GRCm39)		probably benign	Het
Jhy	A	T	9: 40,828,438 (GRCm39)	N489K	probably benign	Het
Kiss1r	A	G	10: 79,754,658 (GRCm39)	T51A	probably benign	Het
Lama5	T	C	2: 179,839,193 (GRCm39)	S772G	possibly damaging	Het
Lamb2	G	T	9: 108,364,932 (GRCm39)		probably null	Het
Loxl3	A	G	6: 83,026,468 (GRCm39)	T475A	probably damaging	Het
Lpl	A	T	8: 69,340,220 (GRCm39)	S72C	possibly damaging	Het
Lrrc74a	A	T	12: 86,801,204 (GRCm39)	I352F	probably damaging	Het
Mcoln2	T	C	3: 145,887,585 (GRCm39)	I334T	possibly damaging	Het
Mettl8	T	G	2: 70,812,383 (GRCm39)	D49A	probably damaging	Het
Ms4a3	T	A	19: 11,610,245 (GRCm39)	T106S	probably benign	Het
Obscn	T	A	11: 58,886,389 (GRCm39)		probably null	Het
Or14j2	T	C	17: 37,885,412 (GRCm39)	I301V	probably null	Het
Or1o11	C	A	17: 37,756,605 (GRCm39)	H64Q	probably benign	Het
Or1p1c	G	A	11: 74,160,325 (GRCm39)	V37I	probably benign	Het
Or4n4	G	T	14: 50,519,689 (GRCm39)	T7K	probably damaging	Het
Or5b107	A	T	19: 13,142,663 (GRCm39)	Y95F	possibly damaging	Het
Pcnx2	T	C	8: 126,528,222 (GRCm39)	K1333E	probably damaging	Het
Pias3	T	C	3: 96,610,891 (GRCm39)	F364L	probably damaging	Het
Piezo2	T	A	18: 63,155,531 (GRCm39)	I2438F	probably damaging	Het
Plcb3	A	C	19: 6,940,192 (GRCm39)	V465G	probably damaging	Het
Plekho2	G	T	9: 65,465,912 (GRCm39)	H159N	probably damaging	Het
Polr2e	A	G	10: 79,872,681 (GRCm39)		probably benign	Het
Rab6b	G	T	9: 103,041,094 (GRCm39)	V163L	probably benign	Het
Rabep1	A	G	11: 70,816,607 (GRCm39)	M597V	probably benign	Het
Sec24b	G	A	3: 129,801,253 (GRCm39)		probably benign	Het
Slc6a18	A	G	13: 73,815,150 (GRCm39)	I386T	probably damaging	Het
Stxbp3	A	C	3: 108,704,741 (GRCm39)	Y497*	probably null	Het
Styk1	T	C	6: 131,278,615 (GRCm39)	K353R	probably damaging	Het
Tbc1d10b	A	T	7: 126,798,253 (GRCm39)	H629Q	probably damaging	Het
Tbc1d5	T	A	17: 51,273,755 (GRCm39)	I119F	probably benign	Het
Tcp11l1	G	T	2: 104,536,831 (GRCm39)	D11E	probably benign	Het
Tfap2d	A	G	1: 19,175,009 (GRCm39)	Y154C	probably damaging	Het
Tgm5	T	C	2: 120,884,018 (GRCm39)	N325S	probably benign	Het
Thbs2	T	C	17: 14,910,327 (GRCm39)	K91E	possibly damaging	Het
Vmn2r26	T	A	6: 124,038,715 (GRCm39)	F763L	probably benign	Het
Washc4	A	G	10: 83,394,694 (GRCm39)	E308G	probably damaging	Het
Xpot	C	A	10: 121,440,399 (GRCm39)	A611S	probably benign	Het

Other mutations in Rbm15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01933:Rbm15	APN	3	107,238,419 (GRCm39)	missense	probably damaging	0.99
IGL02116:Rbm15	APN	3	107,237,596 (GRCm39)	missense	probably damaging	1.00
IGL02886:Rbm15	APN	3	107,233,611 (GRCm39)	missense	probably benign	0.41
Dare	UTSW	3	107,239,627 (GRCm39)	missense	probably benign	0.07
Goad	UTSW	3	107,238,966 (GRCm39)	missense	probably damaging	1.00
R0281:Rbm15	UTSW	3	107,238,471 (GRCm39)	missense	probably damaging	0.99
R0374:Rbm15	UTSW	3	107,237,880 (GRCm39)	missense	probably damaging	1.00
R0376:Rbm15	UTSW	3	107,238,254 (GRCm39)	missense	probably benign	0.00
R0501:Rbm15	UTSW	3	107,239,846 (GRCm39)	missense	possibly damaging	0.91
R0517:Rbm15	UTSW	3	107,238,685 (GRCm39)	missense	probably damaging	1.00
R1347:Rbm15	UTSW	3	107,239,946 (GRCm39)	missense	possibly damaging	0.53
R1347:Rbm15	UTSW	3	107,239,946 (GRCm39)	missense	possibly damaging	0.53
R1348:Rbm15	UTSW	3	107,239,946 (GRCm39)	missense	possibly damaging	0.53
R1372:Rbm15	UTSW	3	107,239,946 (GRCm39)	missense	possibly damaging	0.53
R1373:Rbm15	UTSW	3	107,239,946 (GRCm39)	missense	possibly damaging	0.53
R1377:Rbm15	UTSW	3	107,238,074 (GRCm39)	missense	probably benign
R1616:Rbm15	UTSW	3	107,238,197 (GRCm39)	missense	probably benign
R1708:Rbm15	UTSW	3	107,238,536 (GRCm39)	missense	probably damaging	1.00
R1944:Rbm15	UTSW	3	107,238,868 (GRCm39)	missense	probably damaging	1.00
R2519:Rbm15	UTSW	3	107,238,149 (GRCm39)	missense	probably benign	0.08
R3432:Rbm15	UTSW	3	107,237,993 (GRCm39)	missense	probably benign	0.32
R4885:Rbm15	UTSW	3	107,239,570 (GRCm39)	missense	probably benign	0.25
R5434:Rbm15	UTSW	3	107,237,783 (GRCm39)	missense	possibly damaging	0.70
R6915:Rbm15	UTSW	3	107,239,627 (GRCm39)	missense	probably benign	0.07
R7336:Rbm15	UTSW	3	107,240,432 (GRCm39)	start gained	probably benign
R7799:Rbm15	UTSW	3	107,239,459 (GRCm39)	missense	probably damaging	0.98
R8115:Rbm15	UTSW	3	107,238,966 (GRCm39)	missense	probably damaging	1.00
R8840:Rbm15	UTSW	3	107,240,305 (GRCm39)	missense	probably benign	0.33
R8943:Rbm15	UTSW	3	107,239,372 (GRCm39)	missense	possibly damaging	0.92
R9090:Rbm15	UTSW	3	107,239,312 (GRCm39)	missense	possibly damaging	0.89
R9271:Rbm15	UTSW	3	107,239,312 (GRCm39)	missense	possibly damaging	0.89
R9381:Rbm15	UTSW	3	107,238,752 (GRCm39)	missense	probably benign

Posted On

2013-10-07