Mutagenetix > Incidental Mutation

Incidental Mutation 'R6915:Rbm15'

539268

Institutional Source

Beutler Lab

Gene Symbol

Rbm15

Ensembl Gene

ENSMUSG00000048109

Gene Name

RNA binding motif protein 15

Synonyms

MMRRC Submission

045036-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6915 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

107325421-107333673 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 107332311 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 257 (R257L)

Ref Sequence

ENSEMBL: ENSMUSP00000054424 (fasta)

Gene Model

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

AlphaFold

Q0VBL3

Predicted Effect

probably benign
Transcript: ENSMUST00000061772
AA Change: R257L

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000054424
Gene: ENSMUSG00000048109
AA Change: R257L

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

Meta Mutation Damage Score

0.0867

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.3%

Validation Efficiency

97% (63/65)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adck1	C	A	12: 88,455,620	L334I	probably damaging	Het
Akap9	T	A	5: 3,960,551	M436K	probably benign	Het
Ankmy1	A	C	1: 92,888,451	F314V	probably null	Het
Arid5b	G	A	10: 68,186,212	Q183*	probably null	Het
Atp8b4	A	T	2: 126,358,914	L778*	probably null	Het
BC024139	G	T	15: 76,120,021	N739K	probably benign	Het
Carns1	T	G	19: 4,169,913	H441P	probably benign	Het
Cfap70	T	A	14: 20,409,085	I693F	probably benign	Het
Cldn3	A	G	5: 134,986,572	Q43R	probably damaging	Het
Col7a1	C	T	9: 108,967,618	P1608L	probably benign	Het
Cr2	T	A	1: 195,171,146	Y28F	probably benign	Het
Cyp2c38	T	A	19: 39,436,068	I269F	probably damaging	Het
Dapk1	A	T	13: 60,696,442	I92F	probably damaging	Het
Dennd4a	T	A	9: 64,852,489	L292*	probably null	Het
Dhx38	T	C	8: 109,559,599	E353G	probably benign	Het
Dnm3	T	C	1: 162,318,397		probably null	Het
Dzip3	T	C	16: 48,942,125	I794V	possibly damaging	Het
Eif2b5	T	A	16: 20,502,750	V351D	possibly damaging	Het
Epg5	T	A	18: 77,979,165	V1041E	probably benign	Het
Exoc4	A	G	6: 33,921,453	K869R	possibly damaging	Het
Fat3	C	A	9: 16,377,748	V160F	probably benign	Het
Gak	A	T	5: 108,602,950	Y365N	probably benign	Het
Ghrhr	T	A	6: 55,383,119		probably null	Het
Gm21738	A	G	14: 19,415,933	M202T	probably benign	Het
Gm6583	A	T	5: 112,354,657	W394R	probably damaging	Het
Havcr2	C	T	11: 46,475,911	S177L	probably benign	Het
Hkdc1	G	C	10: 62,401,932	R353G	possibly damaging	Het
Ifi208	G	A	1: 173,682,878	G200S	probably damaging	Het
Klhl20	T	C	1: 161,093,696	D63G	possibly damaging	Het
Lair1	A	T	7: 4,055,953	V12E	possibly damaging	Het
Lipo3	T	C	19: 33,584,893	N26D	probably damaging	Het
Lyst	T	A	13: 13,726,044	D3168E	probably benign	Het
Map6	G	A	7: 99,268,247	A76T	probably damaging	Het
Mcoln3	A	T	3: 146,137,256		probably null	Het
Muc4	T	C	16: 32,766,938	F2718L	probably benign	Het
Nek11	C	G	9: 105,393,057		probably benign	Het
Olfr1428	A	G	19: 12,109,126	V140A	probably benign	Het
Olfr372	C	A	8: 72,057,730	L17I	probably benign	Het
Olfr964-ps1	T	C	9: 39,686,536	E136G	unknown	Het
Pcdh15	A	T	10: 74,643,809	E846V	probably benign	Het
Pcdhga8	C	T	18: 37,725,945	T18M	probably benign	Het
Per3	T	C	4: 151,043,649	M61V	possibly damaging	Het
Pfas	C	T	11: 68,992,181	R759Q	probably benign	Het
Pitpnm1	A	G	19: 4,106,947	Y490C	possibly damaging	Het
Plcb4	A	T	2: 135,947,115	I272F	possibly damaging	Het
Ppp1r3b	A	G	8: 35,384,667	Y220C	probably damaging	Het
Prkce	G	C	17: 86,493,407	G417A	probably damaging	Het
Ptar1	A	G	19: 23,703,137	N106D	probably damaging	Het
Rptor	T	G	11: 119,756,345	M254R	probably damaging	Het
Runx1t1	T	A	4: 13,865,257	W350R	probably damaging	Het
Ryr2	T	G	13: 11,745,601	Y1532S	probably damaging	Het
Serpina1a	C	A	12: 103,853,851	V379L	possibly damaging	Het
Sox8	C	T	17: 25,567,914	V272I	probably damaging	Het
Spert	T	A	14: 75,592,658	T32S	probably benign	Het
Stard9	C	T	2: 120,702,630	H3123Y	probably benign	Het
Taar9	C	T	10: 24,109,012	E175K	possibly damaging	Het
Tinag	T	A	9: 77,001,615	Y348F	probably damaging	Het
Tktl2	T	C	8: 66,513,035	I415T	probably damaging	Het
Tm7sf2	G	T	19: 6,068,312	R718S	probably damaging	Het
Tmem229a	G	T	6: 24,954,658	Q366K	probably benign	Het
Txndc2	T	C	17: 65,638,291	D297G	probably benign	Het
Ulk4	A	G	9: 121,258,820	F269L	probably benign	Het
Vps39	A	T	2: 120,321,031	Y738*	probably null	Het

Other mutations in Rbm15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01370:Rbm15	APN	3	107331010	missense	probably damaging	0.98
IGL01933:Rbm15	APN	3	107331103	missense	probably damaging	0.99
IGL02116:Rbm15	APN	3	107330280	missense	probably damaging	1.00
IGL02886:Rbm15	APN	3	107326295	missense	probably benign	0.41
Dare	UTSW	3	107332311	missense	probably benign	0.07
Goad	UTSW	3	107331650	missense	probably damaging	1.00
R0281:Rbm15	UTSW	3	107331155	missense	probably damaging	0.99
R0374:Rbm15	UTSW	3	107330564	missense	probably damaging	1.00
R0376:Rbm15	UTSW	3	107330938	missense	probably benign	0.00
R0501:Rbm15	UTSW	3	107332530	missense	possibly damaging	0.91
R0517:Rbm15	UTSW	3	107331369	missense	probably damaging	1.00
R1347:Rbm15	UTSW	3	107332630	missense	possibly damaging	0.53
R1347:Rbm15	UTSW	3	107332630	missense	possibly damaging	0.53
R1348:Rbm15	UTSW	3	107332630	missense	possibly damaging	0.53
R1372:Rbm15	UTSW	3	107332630	missense	possibly damaging	0.53
R1373:Rbm15	UTSW	3	107332630	missense	possibly damaging	0.53
R1377:Rbm15	UTSW	3	107330758	missense	probably benign
R1616:Rbm15	UTSW	3	107330881	missense	probably benign
R1708:Rbm15	UTSW	3	107331220	missense	probably damaging	1.00
R1944:Rbm15	UTSW	3	107331552	missense	probably damaging	1.00
R2519:Rbm15	UTSW	3	107330833	missense	probably benign	0.08
R3432:Rbm15	UTSW	3	107330677	missense	probably benign	0.32
R4885:Rbm15	UTSW	3	107332254	missense	probably benign	0.25
R5434:Rbm15	UTSW	3	107330467	missense	possibly damaging	0.70
R7336:Rbm15	UTSW	3	107333116	start gained	probably benign
R7799:Rbm15	UTSW	3	107332143	missense	probably damaging	0.98
R8115:Rbm15	UTSW	3	107331650	missense	probably damaging	1.00
R8840:Rbm15	UTSW	3	107332989	missense	probably benign	0.33
R8943:Rbm15	UTSW	3	107332056	missense	possibly damaging	0.92
R9090:Rbm15	UTSW	3	107331996	missense	possibly damaging	0.89
R9271:Rbm15	UTSW	3	107331996	missense	possibly damaging	0.89
R9381:Rbm15	UTSW	3	107331436	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CGGTCATAGAACGGATAGTCTCG -3'
(R):5'- AACGCTTCGGTGATGTAAGTG -3'

Sequencing Primer
(F):5'- TTCCAGCTCTCGGGGCAATG -3'
(R):5'- GTGTCAAAATCAGTCACCTCTCAGG -3'

Posted On

2018-11-06