Mutagenetix > Incidental Mutation

Incidental Mutation 'R0004:Rbm15b'

32399

Institutional Source

Beutler Lab

Gene Symbol

Rbm15b

Ensembl Gene

ENSMUSG00000074102

Gene Name

RNA binding motif protein 15B

Synonyms

1810017N16Rik

MMRRC Submission

038300-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.487) question?

Stock #

R0004 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

106758127-106764274 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 106762135 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 678 (T678A)

Ref Sequence

ENSEMBL: ENSMUSP00000059330 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055009] [ENSMUST00000055843] [ENSMUST00000069036] [ENSMUST00000159283] [ENSMUST00000159645] [ENSMUST00000161758]

AlphaFold

Q6PHZ5

PDB Structure

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

Predicted Effect

probably benign
Transcript: ENSMUST00000055009

SMART Domains

Protein: ENSMUSP00000060025
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	1392	N/A	PDB
SCOP:d1tbga_	1063	1375	9e-20	SMART
Blast:WD40	1078	1120	3e-22	BLAST
Blast:WD40	1123	1164	7e-19	BLAST
low complexity region	1393	1452	N/A	INTRINSIC
low complexity region	1457	1483	N/A	INTRINSIC
PDB:4P7I\|D	1484	1506	2e-6	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000055843
AA Change: T678A

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000059330
Gene: ENSMUSG00000074102
AA Change: T678A

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: ENSMUST00000159645

SMART Domains

Protein: ENSMUSP00000123865
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	1394	N/A	PDB
SCOP:d1tbga_	1063	1375	1e-19	SMART
Blast:WD40	1078	1120	2e-22	BLAST
Blast:WD40	1123	1164	7e-19	BLAST
low complexity region	1395	1402	N/A	INTRINSIC

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

silent
Transcript: ENSMUST00000185707

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: 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: ENSMUST00000163657

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.1%

Validation Efficiency

98% (63/64)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adal	T	C	2: 120,982,966 (GRCm39)	I86T	probably damaging	Het
Aff3	T	C	1: 38,308,807 (GRCm39)	D376G	possibly damaging	Het
Akap11	A	T	14: 78,752,380 (GRCm39)	H164Q	possibly damaging	Het
Akap12	A	T	10: 4,303,220 (GRCm39)	D10V	probably damaging	Het
Arhgap32	T	C	9: 32,063,294 (GRCm39)	V101A	probably damaging	Het
Atm	A	T	9: 53,364,828 (GRCm39)		probably benign	Het
Ccdc18	A	G	5: 108,309,566 (GRCm39)	D387G	possibly damaging	Het
Ccdc38	A	T	10: 93,409,964 (GRCm39)	Q261L	probably damaging	Het
Cd180	T	G	13: 102,839,216 (GRCm39)	V33G	probably benign	Het
Cd207	G	A	6: 83,651,230 (GRCm39)	Q242*	probably null	Het
Cnp	T	C	11: 100,467,633 (GRCm39)	F192S	probably damaging	Het
Colec10	G	T	15: 54,274,271 (GRCm39)	R33L	possibly damaging	Het
Csn1s1	A	T	5: 87,819,390 (GRCm39)	M16L	probably benign	Het
Dnah10	A	T	5: 124,803,966 (GRCm39)	M98L	probably benign	Het
Dnah17	T	C	11: 117,950,918 (GRCm39)	I2902V	possibly damaging	Het
Dtnb	A	G	12: 3,646,635 (GRCm39)		probably benign	Het
Epha5	T	C	5: 84,479,701 (GRCm39)	Y101C	probably damaging	Het
Ephb2	T	A	4: 136,384,835 (GRCm39)	M860L	probably damaging	Het
Fbxw18	T	C	9: 109,530,381 (GRCm39)	T77A	probably damaging	Het
Fgfbp3	A	G	19: 36,896,082 (GRCm39)	S179P	possibly damaging	Het
Foxp2	A	G	6: 15,197,095 (GRCm39)	T45A	possibly damaging	Het
Gckr	A	T	5: 31,454,933 (GRCm39)		probably benign	Het
Glce	T	A	9: 61,975,861 (GRCm39)	Q213L	probably damaging	Het
Gm1965	A	C	6: 89,123,469 (GRCm39)	H84P	unknown	Het
Hbegf	A	G	18: 36,640,559 (GRCm39)	V166A	probably damaging	Het
Helb	G	T	10: 119,944,886 (GRCm39)	H217N	probably damaging	Het
Ino80	G	A	2: 119,213,441 (GRCm39)	R1249C	probably damaging	Het
Kansl2	A	G	15: 98,418,257 (GRCm39)	L392P	probably damaging	Het
Klra1	A	T	6: 130,349,836 (GRCm39)	Y201N	probably damaging	Het
Klra3	A	G	6: 130,300,650 (GRCm39)	S240P	probably damaging	Het
Liph	T	A	16: 21,802,944 (GRCm39)	R42*	probably null	Het
Lrp1	A	T	10: 127,377,694 (GRCm39)		probably null	Het
Luc7l2	A	T	6: 38,566,169 (GRCm39)	K52M	probably damaging	Het
Mecom	G	A	3: 30,034,060 (GRCm39)	P215S	probably damaging	Het
Myo1g	T	A	11: 6,465,901 (GRCm39)	T395S	probably damaging	Het
Ndst4	T	A	3: 125,364,475 (GRCm39)	M384K	probably benign	Het
Ndufb2	C	T	6: 39,573,438 (GRCm39)	T51I	possibly damaging	Het
Nell1	C	A	7: 50,210,507 (GRCm39)		probably benign	Het
Or51k1	A	T	7: 103,661,638 (GRCm39)	N90K	probably benign	Het
Oxr1	G	A	15: 41,683,936 (GRCm39)	S434N	possibly damaging	Het
Pcdhac2	T	A	18: 37,278,290 (GRCm39)	S423R	probably benign	Het
Pcdhb10	T	A	18: 37,545,012 (GRCm39)	D29E	probably benign	Het
Pde10a	A	G	17: 9,200,408 (GRCm39)	T1053A	probably benign	Het
Pkdrej	T	A	15: 85,702,384 (GRCm39)	H1184L	probably damaging	Het
Prkaa2	C	T	4: 104,904,288 (GRCm39)	R263Q	probably null	Het
Prmt9	A	G	8: 78,282,411 (GRCm39)	I103V	possibly damaging	Het
Ryr2	T	C	13: 11,680,805 (GRCm39)	Y3180C	probably benign	Het
Scaf1	T	C	7: 44,657,094 (GRCm39)		probably benign	Het
Scn7a	T	A	2: 66,518,139 (GRCm39)	N1024I	possibly damaging	Het
Sec23b	T	C	2: 144,406,482 (GRCm39)		probably benign	Het
Sf1	C	A	19: 6,424,221 (GRCm39)	P417Q	probably damaging	Het
Slc4a3	A	T	1: 75,533,653 (GRCm39)		probably benign	Het
Stk32a	T	C	18: 43,438,121 (GRCm39)	W207R	probably damaging	Het
Syne1	A	T	10: 5,393,132 (GRCm39)		probably benign	Het
Tecta	A	T	9: 42,256,774 (GRCm39)	V1634E	possibly damaging	Het
Tenm2	A	G	11: 35,914,184 (GRCm39)	F2450S	probably damaging	Het
Tgfb1	T	C	7: 25,391,791 (GRCm39)		probably benign	Het
Tpgs2	A	G	18: 25,291,295 (GRCm39)		probably benign	Het
Washc5	A	G	15: 59,239,316 (GRCm39)	M149T	probably damaging	Het
Wrn	A	T	8: 33,807,588 (GRCm39)	V290D	probably damaging	Het
Zbtb41	A	G	1: 139,370,626 (GRCm39)	T688A	possibly damaging	Het
Zfp560	C	T	9: 20,259,263 (GRCm39)	C533Y	probably damaging	Het
Zfp791	G	A	8: 85,837,495 (GRCm39)	A123V	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
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
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'- TTGAGGAGGCCACTGATAACTCCC -3'
(R):5'- CCAGCCTCAGTAAAAGTTCAGACCG -3'

Sequencing Primer
(F):5'- TGGTCCCCCTCAAGGATG -3'
(R):5'- TATAGCCGCTCAGTTCGCAG -3'

Posted On

2013-05-09