Mutagenetix > Incidental Mutation

Incidental Mutation 'R0517:Rbm15'

48217

Institutional Source

Beutler Lab

Gene Symbol

Rbm15

Ensembl Gene

ENSMUSG00000048109

Gene Name

RNA binding motif protein 15

Synonyms

C230088J01Rik

MMRRC Submission

038710-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0517 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107232737-107240989 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 107238685 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 571 (L571Q)

Ref Sequence

ENSEMBL: ENSMUSP00000054424 (fasta)

Gene Model

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

AlphaFold

Q0VBL3

Predicted Effect

probably damaging
Transcript: ENSMUST00000061772
AA Change: L571Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000054424
Gene: ENSMUSG00000048109
AA Change: L571Q

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

0.0625

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 92.1%

Validation Efficiency

100% (62/62)

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
2410137M14Rik	T	A	17: 37,292,024 (GRCm39)		probably benign	Het
Acer1	T	C	17: 57,262,569 (GRCm39)	T194A	probably benign	Het
Adamts1	C	A	16: 85,597,241 (GRCm39)	D10Y	possibly damaging	Het
Adamts7	T	C	9: 90,081,911 (GRCm39)	V1612A	probably benign	Het
Adcyap1r1	T	A	6: 55,468,282 (GRCm39)	S373T	probably damaging	Het
Asic5	A	T	3: 81,916,833 (GRCm39)	I266F	probably benign	Het
Cacna1d	A	T	14: 29,901,232 (GRCm39)	I274K	probably damaging	Het
Camsap2	G	T	1: 136,221,126 (GRCm39)	Q238K	possibly damaging	Het
Ceacam15	A	C	7: 16,407,445 (GRCm39)	L24*	probably null	Het
Cerk	G	A	15: 86,040,849 (GRCm39)	T170I	probably damaging	Het
Cyp27b1	T	C	10: 126,885,985 (GRCm39)		probably null	Het
Cyp2c65	T	C	19: 39,070,792 (GRCm39)		probably benign	Het
Dennd5a	A	G	7: 109,533,968 (GRCm39)	S75P	probably damaging	Het
Dhx9	C	T	1: 153,354,662 (GRCm39)	A146T	possibly damaging	Het
Dpysl5	A	G	5: 30,935,410 (GRCm39)	D171G	probably damaging	Het
Dsg3	A	G	18: 20,662,082 (GRCm39)	N449S	probably benign	Het
Eps8l3	T	C	3: 107,790,776 (GRCm39)	S189P	probably benign	Het
Exph5	A	G	9: 53,284,062 (GRCm39)	E381G	probably benign	Het
Fbxo46	A	G	7: 18,870,799 (GRCm39)	M473V	possibly damaging	Het
Fgf14	G	A	14: 124,221,196 (GRCm39)	P203S	probably damaging	Het
Foxf2	C	T	13: 31,810,226 (GRCm39)	A55V	unknown	Het
Galnt5	T	G	2: 57,925,385 (GRCm39)		probably benign	Het
Glis2	T	C	16: 4,429,416 (GRCm39)	L181P	probably damaging	Het
Gm10000	T	G	12: 104,442,667 (GRCm39)		probably benign	Het
Helz2	A	G	2: 180,869,563 (GRCm39)	S2959P	probably benign	Het
Hyal6	A	G	6: 24,734,852 (GRCm39)	N262D	probably benign	Het
Lgr4	T	C	2: 109,841,665 (GRCm39)	L526P	probably damaging	Het
Mapk1	A	T	16: 16,833,910 (GRCm39)	I88F	probably benign	Het
Mpg	A	T	11: 32,181,853 (GRCm39)	H287L	probably benign	Het
Mpp4	A	T	1: 59,163,886 (GRCm39)	Y489*	probably null	Het
Mpzl1	T	C	1: 165,429,359 (GRCm39)	E224G	probably damaging	Het
Myh10	A	G	11: 68,702,425 (GRCm39)		probably null	Het
Odad2	A	C	18: 7,223,621 (GRCm39)	L474R	probably damaging	Het
Or13p8	T	A	4: 118,583,831 (GRCm39)	I129K	probably damaging	Het
Or5m9	T	C	2: 85,877,548 (GRCm39)	S241P	probably damaging	Het
Paip1	T	A	13: 119,584,326 (GRCm39)	F196I	probably damaging	Het
Pde3a	A	T	6: 141,444,383 (GRCm39)	K1064*	probably null	Het
Pira2	A	T	7: 3,847,196 (GRCm39)		probably benign	Het
Pros1	A	G	16: 62,723,881 (GRCm39)	S210G	probably benign	Het
Scn1a	T	A	2: 66,132,751 (GRCm39)	T1194S	possibly damaging	Het
Sema6a	G	A	18: 47,423,112 (GRCm39)		probably null	Het
Serpina1e	G	A	12: 103,915,486 (GRCm39)	T240I	probably benign	Het
Setx	T	G	2: 29,047,145 (GRCm39)	S1874R	probably benign	Het
Sgsm2	G	T	11: 74,758,477 (GRCm39)	T256K	possibly damaging	Het
Slc44a1	T	C	4: 53,542,366 (GRCm39)	V300A	probably damaging	Het
Spata46	A	G	1: 170,139,178 (GRCm39)	Y59C	probably damaging	Het
Supt3	T	C	17: 45,430,158 (GRCm39)	F404L	probably benign	Het
Tars1	T	A	15: 11,394,452 (GRCm39)	K62*	probably null	Het
Tas2r139	A	C	6: 42,118,425 (GRCm39)	T186P	probably damaging	Het
Tasor2	T	A	13: 3,616,964 (GRCm39)	T2367S	possibly damaging	Het
Tc2n	C	T	12: 101,615,454 (GRCm39)	S457N	probably damaging	Het
Tox4	A	T	14: 52,530,085 (GRCm39)	S582C	probably benign	Het
Trappc12	T	C	12: 28,747,133 (GRCm39)		probably benign	Het
Ubqlnl	G	T	7: 103,797,845 (GRCm39)	Q551K	probably damaging	Het
Ubr4	A	G	4: 139,119,435 (GRCm39)	T205A	probably benign	Het
Urb1	G	A	16: 90,574,310 (GRCm39)	Q924*	probably null	Het
Vmn1r49	A	G	6: 90,049,720 (GRCm39)	L94P	probably damaging	Het
Vmn2r120	T	C	17: 57,815,949 (GRCm39)	Y802C	probably damaging	Het
Xrcc1	C	T	7: 24,269,744 (GRCm39)		probably benign	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
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
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'- CAGGTGATCTATCAAGATGCCGTCC -3'
(R):5'- GACCGATTTGGCACCATTCGAAC -3'

Sequencing Primer
(F):5'- GCAAGTCCCGATCACCTCTG -3'
(R):5'- GATTTGGCACCATTCGAACCATAG -3'

Posted On

2013-06-12