Mutagenetix > Incidental Mutation

Incidental Mutation 'R4890:Rbm15b'

377271

Institutional Source

Beutler Lab

Gene Symbol

Rbm15b

Ensembl Gene

ENSMUSG00000074102

Gene Name

RNA binding motif protein 15B

Synonyms

1810017N16Rik

MMRRC Submission

042495-MU

Accession Numbers

Essential gene?

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

Stock #

R4890 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

106758127-106764274 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 106763028 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 380 (F380Y)

Ref Sequence

ENSEMBL: ENSMUSP00000059330 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055843] [ENSMUST00000069036] [ENSMUST00000159283] [ENSMUST00000161758]

AlphaFold

Q6PHZ5

PDB Structure

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000055843
AA Change: F380Y

PolyPhen 2 Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000059330
Gene: ENSMUSG00000074102
AA Change: F380Y

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

noncoding transcript
Transcript: ENSMUST00000160978

SMART Domains

Protein: ENSMUSP00000124791
Gene: ENSMUSG00000032575

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:Armet	26	124	1.6e-46	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

noncoding transcript
Transcript: ENSMUST00000162801

Predicted Effect

probably benign
Transcript: ENSMUST00000161758

SMART Domains

Protein: ENSMUSP00000125730
Gene: ENSMUSG00000040325

Domain	Start	End	E-Value	Type
low complexity region	175	191	N/A	INTRINSIC
low complexity region	201	212	N/A	INTRINSIC
low complexity region	591	605	N/A	INTRINSIC
LisH	845	877	1.77e-3	SMART
low complexity region	920	945	N/A	INTRINSIC
PDB:4PXW\|B	1038	1398	N/A	PDB
SCOP:d1tbga_	1063	1308	3e-19	SMART
Blast:WD40	1078	1120	3e-22	BLAST
Blast:WD40	1123	1164	7e-19	BLAST
low complexity region	1399	1458	N/A	INTRINSIC
low complexity region	1463	1489	N/A	INTRINSIC
PDB:4P7I\|D	1490	1512	2e-6	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000185707

Meta Mutation Damage Score

0.1250

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.4%

Validation Efficiency

99% (81/82)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA986860	T	C	1: 130,668,725 (GRCm39)		probably benign	Het
Adcy4	C	T	14: 56,016,486 (GRCm39)	D322N	probably damaging	Het
Adgrb3	T	C	1: 25,260,908 (GRCm39)	N916S	probably damaging	Het
Aox1	T	C	1: 58,373,862 (GRCm39)	V841A	probably benign	Het
Baz2b	A	T	2: 59,756,383 (GRCm39)	M983K	probably damaging	Het
C2cd2l	A	G	9: 44,222,430 (GRCm39)	F682L	probably damaging	Het
Ccsap	T	G	8: 124,572,160 (GRCm39)	E114A	possibly damaging	Het
Cept1	T	A	3: 106,413,123 (GRCm39)	T201S	probably damaging	Het
Cfap221	T	C	1: 119,883,476 (GRCm39)	M232V	probably benign	Het
Chsy1	A	G	7: 65,759,974 (GRCm39)	R106G	probably benign	Het
Cit	C	T	5: 116,126,182 (GRCm39)		probably benign	Het
Cldn7	G	A	11: 69,857,918 (GRCm39)	V42I	probably benign	Het
Cnnm4	T	A	1: 36,511,345 (GRCm39)	V191E	probably benign	Het
Cntf	A	T	19: 12,741,326 (GRCm39)	V178D	possibly damaging	Het
Ctsz	C	A	2: 174,270,393 (GRCm39)	R263L	probably damaging	Het
Dclk1	T	C	3: 55,429,353 (GRCm39)	M407T	probably benign	Het
Dennd1a	A	T	2: 38,066,238 (GRCm39)		probably benign	Het
Dnhd1	A	G	7: 105,306,164 (GRCm39)	I368V	possibly damaging	Het
Gak	A	T	5: 108,728,742 (GRCm39)		probably benign	Het
Hepacam2	A	T	6: 3,487,231 (GRCm39)	V42D	probably damaging	Het
Il1rl2	CTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT	CTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT	1: 40,366,470 (GRCm39)		probably benign	Het
Insr	T	A	8: 3,248,234 (GRCm39)	Q437L	probably benign	Het
Itga8	G	A	2: 12,198,102 (GRCm39)		probably benign	Het
Kansl1	A	T	11: 104,233,868 (GRCm39)	C732S	probably benign	Het
Kdsr	T	C	1: 106,680,964 (GRCm39)	K78R	probably benign	Het
Kif14	T	C	1: 136,414,868 (GRCm39)	S785P	possibly damaging	Het
Lbr	C	A	1: 181,645,133 (GRCm39)	L506F	probably benign	Het
Macf1	C	A	4: 123,342,031 (GRCm39)	C2720F	probably damaging	Het
Mapt	G	A	11: 104,218,975 (GRCm39)	D738N	probably damaging	Het
Mroh9	T	C	1: 162,854,093 (GRCm39)	Y769C	probably damaging	Het
Mylk2	A	G	2: 152,762,274 (GRCm39)	N515S	possibly damaging	Het
Myorg	G	A	4: 41,498,877 (GRCm39)	T251M	probably benign	Het
Nek10	T	A	14: 14,860,986 (GRCm38)	L513M	possibly damaging	Het
Nrxn2	A	T	19: 6,498,308 (GRCm39)	S258C	possibly damaging	Het
Nudt16l2	A	T	9: 105,021,786 (GRCm39)	S87T	possibly damaging	Het
Or52e15	G	A	7: 104,645,311 (GRCm39)	H267Y	probably benign	Het
Or5m12	C	T	2: 85,735,092 (GRCm39)	C102Y	possibly damaging	Het
Or6c1b	C	T	10: 129,272,948 (GRCm39)	T89I	probably benign	Het
Or6z5	T	A	7: 6,477,848 (GRCm39)	C246*	probably null	Het
Or8c15	G	T	9: 38,120,586 (GRCm39)	C79F	probably benign	Het
Osgin2	G	A	4: 16,013,739 (GRCm39)		probably benign	Het
Otud3	G	A	4: 138,641,060 (GRCm39)	R27W	probably damaging	Het
Pcare	C	T	17: 72,059,306 (GRCm39)	V124I	possibly damaging	Het
Pcdhga12	T	A	18: 37,901,290 (GRCm39)	F707L	possibly damaging	Het
Pik3r1	T	C	13: 101,894,118 (GRCm39)	E17G	probably damaging	Het
Pramel19	A	G	4: 101,798,788 (GRCm39)	E253G	probably damaging	Het
Prickle4	AAGAGAGAGAGAGAGA	AAGAGAGAGAGAGA	17: 48,000,806 (GRCm39)		probably benign	Het
Prokr1	G	A	6: 87,565,678 (GRCm39)	R56W	probably benign	Het
Ptprz1	G	A	6: 23,024,957 (GRCm39)	C1731Y	probably damaging	Het
Rfc5	G	A	5: 117,524,885 (GRCm39)	L56F	probably damaging	Het
Rhpn2	A	T	7: 35,090,228 (GRCm39)	M617L	probably benign	Het
Rusc1	T	C	3: 88,995,577 (GRCm39)		probably null	Het
Sec23ip	A	G	7: 128,354,634 (GRCm39)	N297D	probably damaging	Het
Sema3c	A	T	5: 17,880,157 (GRCm39)	H259L	probably benign	Het
Sgsm1	G	A	5: 113,428,328 (GRCm39)		probably benign	Het
Shisal2a	A	G	4: 108,224,998 (GRCm39)	V188A	probably benign	Het
Sipa1l2	T	A	8: 126,218,606 (GRCm39)	S244C	probably damaging	Het
Slc39a5	T	C	10: 128,234,316 (GRCm39)	I196V	probably benign	Het
Smim22	G	A	16: 4,825,722 (GRCm39)	A36T	probably damaging	Het
Spag6	A	G	2: 18,747,588 (GRCm39)	I408V	probably benign	Het
Sult2a5	A	G	7: 13,359,311 (GRCm39)	I96V	probably benign	Het
Tmcc2	C	A	1: 132,308,517 (GRCm39)	A126S	probably benign	Het
Tsc2	A	T	17: 24,819,009 (GRCm39)	S1276T	probably damaging	Het
Ttc21a	A	G	9: 119,788,103 (GRCm39)	S843G	probably benign	Het
Tubd1	G	C	11: 86,443,621 (GRCm39)	V110L	possibly damaging	Het
Ugt1a2	T	A	1: 88,128,534 (GRCm39)	V59D	probably damaging	Het
Vmn2r-ps158	A	G	7: 42,697,024 (GRCm39)	R687G	probably damaging	Het
Vsig8	T	A	1: 172,389,142 (GRCm39)	H131Q	probably benign	Het
Zbtb42	C	A	12: 112,646,861 (GRCm39)	Y345*	probably null	Het
Zfp612	T	A	8: 110,816,576 (GRCm39)	C594*	probably null	Het
Zfp940	A	G	7: 29,544,824 (GRCm39)	V361A	probably benign	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
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
R8866: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'- AAGCGATCGAATTCCCTGGC -3'
(R):5'- GGACTATTACGGGCTGTACGAC -3'

Sequencing Primer
(F):5'- ATGGGGTTTCTGCCAAT -3'
(R):5'- TACCAGGCCGTGTGCGAG -3'

Posted On

2016-03-17