Mutagenetix > Incidental Mutation

Incidental Mutation 'R0376:Rbm15'

30736

Institutional Source

Beutler Lab

Gene Symbol

Rbm15

Ensembl Gene

ENSMUSG00000048109

Gene Name

RNA binding motif protein 15

Synonyms

C230088J01Rik

MMRRC Submission

038582-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0376 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107232737-107240989 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 107238254 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 715 (S715G)

Ref Sequence

ENSEMBL: ENSMUSP00000054424 (fasta)

Gene Model

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

AlphaFold

Q0VBL3

Predicted Effect

probably benign
Transcript: ENSMUST00000061772
AA Change: S715G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000054424
Gene: ENSMUSG00000048109
AA Change: S715G

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.5%
20x: 90.0%

Validation Efficiency

100% (58/58)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6a	T	C	12: 113,508,310 (GRCm39)	Y228H	probably damaging	Het
Als2	A	G	1: 59,254,724 (GRCm39)	F211S	probably benign	Het
Ankrd12	T	A	17: 66,360,004 (GRCm39)	Q11L	probably damaging	Het
Anxa5	T	C	3: 36,514,637 (GRCm39)	R115G	probably damaging	Het
Arhgap10	T	C	8: 78,177,453 (GRCm39)		probably benign	Het
Atp2a3	T	A	11: 72,873,528 (GRCm39)	D782E	probably damaging	Het
Bcr	G	T	10: 74,981,159 (GRCm39)	L659F	probably damaging	Het
Cacna1b	A	G	2: 24,549,015 (GRCm39)		probably benign	Het
Camp	C	T	9: 109,677,467 (GRCm39)	C122Y	probably damaging	Het
Cimip1	G	A	2: 173,370,120 (GRCm39)	E132K	probably benign	Het
Col12a1	A	T	9: 79,600,776 (GRCm39)	S769R	probably benign	Het
Cyp2j6	T	A	4: 96,414,260 (GRCm39)	K335I	probably damaging	Het
Cyp3a11	A	C	5: 145,799,262 (GRCm39)	Y308*	probably null	Het
Flnb	G	A	14: 7,946,014 (GRCm38)		probably null	Het
Frmd4a	G	T	2: 4,577,198 (GRCm39)	M351I	probably damaging	Het
Gabrg2	C	T	11: 41,807,142 (GRCm39)	S365N	possibly damaging	Het
Ggn	T	C	7: 28,872,447 (GRCm39)	V609A	possibly damaging	Het
H60c	T	C	10: 3,210,435 (GRCm39)		probably benign	Het
Hexd	T	A	11: 121,108,991 (GRCm39)		probably benign	Het
Igsf9b	A	G	9: 27,245,878 (GRCm39)	T1282A	probably benign	Het
Ikzf4	T	C	10: 128,468,625 (GRCm39)	N618S	probably benign	Het
Ints14	A	G	9: 64,891,272 (GRCm39)	K418E	probably damaging	Het
Iqgap1	T	C	7: 80,373,627 (GRCm39)	E1454G	probably benign	Het
Kif13b	T	C	14: 64,994,853 (GRCm39)		probably benign	Het
Krt71	A	C	15: 101,646,505 (GRCm39)	F328C	probably damaging	Het
Lama2	T	C	10: 26,891,542 (GRCm39)	T2524A	possibly damaging	Het
Mfn2	C	T	4: 147,969,983 (GRCm39)	V363I	probably benign	Het
Mkln1	A	T	6: 31,454,953 (GRCm39)	D496V	probably benign	Het
Or2q1	A	T	6: 42,795,226 (GRCm39)	M274L	probably benign	Het
Patj	T	A	4: 98,457,224 (GRCm39)	I1242N	probably damaging	Het
Pcnx1	C	T	12: 82,021,353 (GRCm39)		probably benign	Het
Plcb2	T	C	2: 118,547,721 (GRCm39)	E502G	probably damaging	Het
Plppr4	G	T	3: 117,116,740 (GRCm39)	H314Q	probably benign	Het
Prkcsh	A	G	9: 21,921,547 (GRCm39)		probably benign	Het
Prr14	C	T	7: 127,075,815 (GRCm39)	H181Y	probably benign	Het
Pus3	A	T	9: 35,477,718 (GRCm39)	M317L	possibly damaging	Het
Pwwp2a	T	A	11: 43,595,499 (GRCm39)	D221E	probably benign	Het
Rbm28	A	G	6: 29,158,927 (GRCm39)		probably benign	Het
Rhobtb2	A	T	14: 70,034,184 (GRCm39)	V347E	probably benign	Het
Rimbp2	C	T	5: 128,880,925 (GRCm39)	R161Q	probably damaging	Het
Scgb1b27	C	T	7: 33,721,322 (GRCm39)	T70I	possibly damaging	Het
Slc40a1	T	C	1: 45,951,651 (GRCm39)		probably benign	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Spaca9	A	G	2: 28,583,672 (GRCm39)	V104A	probably benign	Het
Spag7	T	C	11: 70,560,016 (GRCm39)		probably benign	Het
Sugp1	A	G	8: 70,505,288 (GRCm39)	D85G	probably damaging	Het
Sun1	A	G	5: 139,212,454 (GRCm39)		probably benign	Het
Tcp11l1	C	A	2: 104,527,850 (GRCm39)		probably benign	Het
Tead3	A	C	17: 28,560,339 (GRCm39)	D88E	probably damaging	Het
Tecpr1	A	T	5: 144,144,294 (GRCm39)	V636E	possibly damaging	Het
Tldc2	T	C	2: 156,937,225 (GRCm39)	W147R	probably damaging	Het
Tmem161b	A	G	13: 84,440,502 (GRCm39)	T125A	probably benign	Het
Trrap	A	G	5: 144,753,149 (GRCm39)	M1825V	probably benign	Het
Ttbk2	A	G	2: 120,608,062 (GRCm39)	F186L	probably damaging	Het
U2surp	C	T	9: 95,366,496 (GRCm39)	V470I	probably benign	Het
Zc3h7a	T	C	16: 10,974,066 (GRCm39)	M240V	probably benign	Het
Zc3hc1	G	C	6: 30,372,789 (GRCm39)	S351W	probably damaging	Het
Zfp366	T	C	13: 99,370,759 (GRCm39)	M493T	probably benign	Het
Zfp93	C	T	7: 23,975,286 (GRCm39)	P424S	probably damaging	Het

Other mutations in Rbm15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01370:Rbm15	APN	3	107,238,326 (GRCm39)	missense	probably damaging	0.98
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
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

Predicted Primers

PCR Primer
(F):5'- AGTTGAGCCCTCCACAAGTAGACTG -3'
(R):5'- AACAGCGTCACTGCACTCCTTC -3'

Sequencing Primer
(F):5'- CCTGCAACAGATGCATGTTGG -3'
(R):5'- TCTCCTGACCGAAGTCCAG -3'

Posted On

2013-04-24