Mutagenetix > Incidental Mutation

Incidental Mutation 'R8866:Rbm15b'

675938

Institutional Source

Beutler Lab

Gene Symbol

Rbm15b

Ensembl Gene

ENSMUSG00000074102

Gene Name

RNA binding motif protein 15B

Synonyms

1810017N16Rik

MMRRC Submission

068742-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.494) question?

Stock #

R8866 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

106758127-106764274 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 106763595 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 191 (R191Q)

Ref Sequence

ENSEMBL: ENSMUSP00000059330 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055843] [ENSMUST00000069036] [ENSMUST00000159283]

AlphaFold

Q6PHZ5

PDB Structure

Solution structure of the RNA recognition motif from hypothetical RNA binding protein BC052180 [SOLUTION NMR]

Predicted Effect

probably benign
Transcript: ENSMUST00000055843
AA Change: R191Q

PolyPhen 2 Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000059330
Gene: ENSMUSG00000074102
AA Change: R191Q

Domain	Start	End	E-Value	Type
low complexity region	5	41	N/A	INTRINSIC
low complexity region	53	75	N/A	INTRINSIC
low complexity region	78	133	N/A	INTRINSIC
RRM	137	212	2.47e-2	SMART
low complexity region	216	251	N/A	INTRINSIC
low complexity region	266	299	N/A	INTRINSIC
RRM	334	406	2.03e-15	SMART
RRM	415	484	3.57e-11	SMART
low complexity region	653	675	N/A	INTRINSIC
Pfam:SPOC	719	854	1.7e-30	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000069036

SMART Domains

Protein: ENSMUSP00000066534
Gene: ENSMUSG00000032575

Domain	Start	End	E-Value	Type
Pfam:Armet	13	165	3.2e-77	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000159283

SMART Domains

Protein: ENSMUSP00000124562
Gene: ENSMUSG00000032575

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:Armet	26	171	9.1e-74	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000159620

SMART Domains

Protein: ENSMUSP00000123907
Gene: ENSMUSG00000032575

Domain	Start	End	E-Value	Type
Pfam:Armet	18	120	1.7e-44	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000160503

SMART Domains

Protein: ENSMUSP00000124453
Gene: ENSMUSG00000032575

Domain	Start	End	E-Value	Type
Pfam:Armet	17	118	1.6e-44	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000161272

SMART Domains

Protein: ENSMUSP00000125424
Gene: ENSMUSG00000032575

Domain	Start	End	E-Value	Type
Pfam:Armet	1	51	2.5e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000185707

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

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 RBM15B, 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]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2	C	T	3: 59,914,511 (GRCm39)	T38I	probably benign	Het
Arhgap1	G	T	2: 91,499,744 (GRCm39)	S293I	probably benign	Het
Arhgap45	C	A	10: 79,853,750 (GRCm39)	P88Q	probably damaging	Het
Atg9a	A	C	1: 75,161,867 (GRCm39)	F560V	probably damaging	Het
Btaf1	T	A	19: 36,935,901 (GRCm39)	N230K	probably benign	Het
Ccne1	A	C	7: 37,800,046 (GRCm39)	H179Q	probably benign	Het
Dbr1	T	A	9: 99,460,497 (GRCm39)	L109*	probably null	Het
Dchs1	G	T	7: 105,404,597 (GRCm39)	N2648K	probably benign	Het
Ddx47	A	G	6: 135,000,356 (GRCm39)	K451E	probably benign	Het
Dlgap1	A	T	17: 70,823,435 (GRCm39)	H140L	probably damaging	Het
Dnah11	T	A	12: 118,156,107 (GRCm39)	H181L	probably benign	Het
Dync1h1	T	C	12: 110,602,333 (GRCm39)	C2074R	probably damaging	Het
Ell2	A	T	13: 75,917,793 (GRCm39)	Q574H	probably damaging	Het
Eloa	A	C	4: 135,737,538 (GRCm39)		probably null	Het
Epha7	A	G	4: 28,821,614 (GRCm39)	I260V	probably benign	Het
Fbp2	T	C	13: 62,989,709 (GRCm39)	K199R	probably benign	Het
Fetub	A	T	16: 22,758,321 (GRCm39)	E368V	possibly damaging	Het
Fsip2	A	G	2: 82,810,521 (GRCm39)	Q2280R	probably benign	Het
Fstl4	A	G	11: 52,963,233 (GRCm39)	E205G	possibly damaging	Het
Gm5592	A	T	7: 40,938,246 (GRCm39)	R509S	possibly damaging	Het
Gpld1	A	G	13: 25,170,890 (GRCm39)	T794A	probably benign	Het
Gsk3b	A	G	16: 38,004,900 (GRCm39)	Y157C	probably damaging	Het
Hgs	A	G	11: 120,360,464 (GRCm39)	N54S	probably benign	Het
Hydin	G	A	8: 111,308,779 (GRCm39)	V4022M	possibly damaging	Het
Kank1	T	C	19: 25,388,702 (GRCm39)	S792P	possibly damaging	Het
Kctd4	A	G	14: 76,200,465 (GRCm39)	I145M	probably benign	Het
Klra5	A	T	6: 129,880,533 (GRCm39)	W212R	probably damaging	Het
Lrp6	A	T	6: 134,445,785 (GRCm39)	N1009K	probably benign	Het
Lrrc10	T	A	10: 116,881,858 (GRCm39)	N177K	probably damaging	Het
Lrrc39	T	A	3: 116,363,790 (GRCm39)	I121N	probably damaging	Het
Mov10l1	A	T	15: 88,896,169 (GRCm39)	D671V	probably benign	Het
Ndel1	A	G	11: 68,734,645 (GRCm39)		probably null	Het
Or10g3	A	T	14: 52,610,196 (GRCm39)	Y105N	probably damaging	Het
Or1e27-ps1	A	G	11: 73,555,825 (GRCm39)	Y130C	probably damaging	Het
Or1e32	A	T	11: 73,705,237 (GRCm39)	S224T	probably damaging	Het
Or51a43	A	T	7: 103,718,119 (GRCm39)	S40T	probably damaging	Het
Otop2	A	G	11: 115,220,354 (GRCm39)	D398G	probably benign	Het
Pkd1	T	C	17: 24,792,051 (GRCm39)	V1246A	probably damaging	Het
Polr3b	T	A	10: 84,531,555 (GRCm39)	D810E	probably benign	Het
Ppl	T	A	16: 4,920,211 (GRCm39)	T395S	probably benign	Het
Ptprm	G	A	17: 67,116,630 (GRCm39)	A883V	probably benign	Het
Rapgef6	G	A	11: 54,443,700 (GRCm39)		probably null	Het
Rbm12	A	T	2: 155,938,693 (GRCm39)	Y526*	probably null	Het
Rsf1	GCGGCGGCG	GCGGCGGCGACGGCGGCG	7: 97,229,120 (GRCm39)		probably benign	Het
Rxylt1	A	G	10: 121,924,953 (GRCm39)	Y250H	probably damaging	Het
Serpinb6c	A	T	13: 34,083,309 (GRCm39)	I35N	probably damaging	Het
Setd4	A	G	16: 93,386,961 (GRCm39)	F246L	probably damaging	Het
Shank2	A	G	7: 143,964,986 (GRCm39)	S865G	probably benign	Het
Skint6	T	C	4: 112,711,650 (GRCm39)	N956D	probably benign	Het
Slc30a3	C	A	5: 31,245,325 (GRCm39)	V332F	possibly damaging	Het
Smg1	A	G	7: 117,806,122 (GRCm39)	S240P	unknown	Het
Tank	T	A	2: 61,409,005 (GRCm39)	S7R	probably benign	Het
Tecpr1	T	C	5: 144,153,117 (GRCm39)	E204G	possibly damaging	Het
Tmem74	A	G	15: 43,730,231 (GRCm39)	S271P	probably damaging	Het
Tor4a	T	C	2: 25,084,965 (GRCm39)	M313V	probably benign	Het
Tpd52l2	A	G	2: 181,154,861 (GRCm39)	D192G	probably damaging	Het
Trim29	T	C	9: 43,222,945 (GRCm39)	V258A	probably damaging	Het
Ttc39c	A	T	18: 12,831,003 (GRCm39)	S288C	probably benign	Het
Ttn	T	C	2: 76,592,675 (GRCm39)	E20819G	probably damaging	Het
Twnk	C	T	19: 45,000,272 (GRCm39)	Q663*	probably null	Het
Ucn	T	A	5: 31,295,857 (GRCm39)	Q3L	probably benign	Het
Unc80	G	A	1: 66,629,388 (GRCm39)	G1295E	probably benign	Het
Usp9y	C	T	Y: 1,395,758 (GRCm39)	R492H	probably damaging	Het
Vars1	T	C	17: 35,234,620 (GRCm39)	S1150P	probably benign	Het
Vwa5b1	T	G	4: 138,327,628 (GRCm39)	E316A	probably damaging	Het
Zc3h7b	G	A	15: 81,656,681 (GRCm39)	R166Q	probably benign	Het
Zfp839	A	G	12: 110,834,848 (GRCm39)	E701G	probably benign	Het
Zfp931	A	T	2: 177,710,178 (GRCm39)	C69*	probably null	Het

Other mutations in Rbm15b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01660:Rbm15b	APN	9	106,762,908 (GRCm39)	missense	probably damaging	1.00
IGL02514:Rbm15b	APN	9	106,762,176 (GRCm39)	missense	probably damaging	0.96
IGL02585:Rbm15b	APN	9	106,763,025 (GRCm39)	missense	probably benign	0.22
IGL02814:Rbm15b	APN	9	106,762,975 (GRCm39)	missense	probably benign	0.12
IGL03110:Rbm15b	APN	9	106,763,173 (GRCm39)	missense	probably damaging	1.00
IGL03335:Rbm15b	APN	9	106,761,538 (GRCm39)	missense	probably damaging	0.99
R0004:Rbm15b	UTSW	9	106,762,135 (GRCm39)	missense	probably benign	0.02
R0234:Rbm15b	UTSW	9	106,762,563 (GRCm39)	missense	probably damaging	1.00
R0234:Rbm15b	UTSW	9	106,762,563 (GRCm39)	missense	probably damaging	1.00
R0390:Rbm15b	UTSW	9	106,763,197 (GRCm39)	missense	probably benign	0.03
R1981:Rbm15b	UTSW	9	106,758,822 (GRCm39)	unclassified	probably benign
R2966:Rbm15b	UTSW	9	106,762,791 (GRCm39)	missense	probably damaging	1.00
R4085:Rbm15b	UTSW	9	106,762,936 (GRCm39)	missense	possibly damaging	0.80
R4890:Rbm15b	UTSW	9	106,763,028 (GRCm39)	missense	possibly damaging	0.86
R5081:Rbm15b	UTSW	9	106,762,120 (GRCm39)	missense	probably benign	0.01
R5118:Rbm15b	UTSW	9	106,763,301 (GRCm39)	missense	possibly damaging	0.65
R5513:Rbm15b	UTSW	9	106,763,316 (GRCm39)	missense	probably benign	0.02
R7341:Rbm15b	UTSW	9	106,762,246 (GRCm39)	missense	probably benign	0.35
R7711:Rbm15b	UTSW	9	106,763,142 (GRCm39)	missense	possibly damaging	0.67
R7842:Rbm15b	UTSW	9	106,763,088 (GRCm39)	missense	probably damaging	1.00
R8327:Rbm15b	UTSW	9	106,761,646 (GRCm39)	missense	probably benign	0.00
R8372:Rbm15b	UTSW	9	106,762,762 (GRCm39)	missense
R8855:Rbm15b	UTSW	9	106,763,595 (GRCm39)	missense	probably benign	0.15
R9201:Rbm15b	UTSW	9	106,762,218 (GRCm39)	missense	unknown
X0024:Rbm15b	UTSW	9	106,762,578 (GRCm39)	missense	probably benign	0.15

Predicted Primers

PCR Primer
(F):5'- TAATAGTCCAGGGCTCGCTC -3'
(R):5'- GTACAAGACGCTCCTCATCAGC -3'

Sequencing Primer
(F):5'- GCTGCTTGTACTGGTAGCCAC -3'
(R):5'- GCTCCTCATCAGCAGCCTG -3'

Posted On

2021-07-15