Mutagenetix > Incidental Mutation

Incidental Mutation 'R5905:Snrpb'

456482

Institutional Source

Beutler Lab

Gene Symbol

Snrpb

Ensembl Gene

ENSMUSG00000027404

Gene Name

small nuclear ribonucleoprotein B

Synonyms

SNRNP-B, SM-B, SMB, SM11

MMRRC Submission

044102-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R5905 (G1)

Quality Score

113

Status

Not validated

Chromosome

Chromosomal Location

130171414-130179403 bp(-) (GRCm38)

Type of Mutation

start gained

DNA Base Change (assembly)

T to A at 130179276 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000143633 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103199] [ENSMUST00000147570]

AlphaFold

P27048

Predicted Effect

probably benign
Transcript: ENSMUST00000103199

SMART Domains

Protein: ENSMUSP00000099488
Gene: ENSMUSG00000027404

Domain	Start	End	E-Value	Type
Sm	7	82	1.06e-24	SMART
low complexity region	98	117	N/A	INTRINSIC
low complexity region	151	164	N/A	INTRINSIC
low complexity region	169	229	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139225

Predicted Effect

probably benign
Transcript: ENSMUST00000147570

SMART Domains

Protein: ENSMUSP00000143633
Gene: ENSMUSG00000027404

Domain	Start	End	E-Value	Type
Sm	7	64	6.9e-17	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150835

Coding Region Coverage

1x: 99.8%
3x: 99.4%
10x: 97.1%
20x: 90.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is one of several nuclear proteins that are found in common among U1, U2, U4/U6, and U5 small ribonucleoprotein particles (snRNPs). These snRNPs are involved in pre-mRNA splicing, and the encoded protein may also play a role in pre-mRNA splicing or snRNP structure. Autoantibodies from patients with systemic lupus erythematosus frequently recognize epitopes on the encoded protein. Two transcript variants encoding different isoforms (B and B') have been found for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810062G17Rik	T	A	3: 36,479,569		probably null	Het
Acat1	A	T	9: 53,592,066	Y158N	probably damaging	Het
Adamtsl1	C	A	4: 86,342,324	A924E	probably damaging	Het
Alad	G	T	4: 62,510,122	T305K	probably benign	Het
Als2cl	G	T	9: 110,898,084	R906L	probably damaging	Het
Ap3d1	T	C	10: 80,722,927	N281S	possibly damaging	Het
Arf4	A	G	14: 26,653,924	T113A	probably benign	Het
Arhgap8	A	T	15: 84,741,977	K84N	possibly damaging	Het
Asah2	T	C	19: 32,016,514	D438G	probably damaging	Het
Cachd1	C	A	4: 100,983,556	N905K	probably damaging	Het
Catsperb	T	A	12: 101,602,700	M877K	possibly damaging	Het
Cc2d2a	A	T	5: 43,712,426	M890L	probably benign	Het
Cd180	A	T	13: 102,706,033	H529L	possibly damaging	Het
Cdh23	G	T	10: 60,534,535	D160E	probably damaging	Het
Chd7	C	A	4: 8,840,553	N1440K	possibly damaging	Het
Cntln	T	A	4: 84,971,173	S298T	probably benign	Het
Dmap1	G	T	4: 117,676,766	T132K	probably benign	Het
Dnah11	C	T	12: 117,954,924	G3424E	probably damaging	Het
Dnah5	T	A	15: 28,387,833	M3146K	probably damaging	Het
Egfr	A	T	11: 16,911,494	E1091V	probably damaging	Het
Eps8l2	T	C	7: 141,357,833	F422S	possibly damaging	Het
F2r	A	G	13: 95,604,613	V138A	possibly damaging	Het
Faf1	T	A	4: 109,890,929	M477K	probably benign	Het
Fam149b	C	T	14: 20,359,910	T235M	probably benign	Het
Fan1	C	A	7: 64,353,651	A808S	probably benign	Het
Fbxl20	A	G	11: 98,115,445	I38T	probably damaging	Het
Fnbp4	C	A	2: 90,751,134	T177K	probably benign	Het
Gm884	A	T	11: 103,614,255	S2296T	probably damaging	Het
Gm9747	T	C	1: 82,234,298		probably benign	Het
Grip1	A	G	10: 119,985,492	D354G	probably benign	Het
Grk4	A	C	5: 34,711,730	Y189S	probably damaging	Het
Hax1	GTCATCATCATCATCATC	GTCATCATCATCATCATCATC	3: 89,997,940		probably benign	Het
Hgfac	A	G	5: 35,042,362	N63D	probably benign	Het
Hk1	C	A	10: 62,353,058	K25N	probably null	Het
Hrc	G	A	7: 45,336,234	G270S	probably damaging	Het
Inhba	T	A	13: 16,017,308	W5R	probably benign	Het
Lipm	T	C	19: 34,111,911	S90P	probably benign	Het
Lman1l	A	G	9: 57,608,263	I443T	probably damaging	Het
Lmod3	T	A	6: 97,247,614	E415D	probably damaging	Het
Lrrc63	A	G	14: 75,086,174	S537P	possibly damaging	Het
Map9	T	A	3: 82,380,248		probably null	Het
Marf1	T	A	16: 14,127,249	Q1252L	probably damaging	Het
Mc3r	A	T	2: 172,249,209	D117V	probably damaging	Het
Mepce	A	G	5: 137,784,720	V448A	possibly damaging	Het
Mical1	A	T	10: 41,486,877	M973L	probably benign	Het
Mmp21	T	C	7: 133,678,714	T176A	probably benign	Het
Nacc2	A	G	2: 26,061,578	V415A	probably damaging	Het
Neb	G	A	2: 52,193,231	T1639I	probably damaging	Het
Nfia	A	G	4: 98,111,251	H485R	possibly damaging	Het
Nlrp9a	C	T	7: 26,558,337	T460I	probably benign	Het
Olfr1079	T	A	2: 86,538,769	I49F	possibly damaging	Het
Olfr12	T	A	1: 92,620,142	C79S	possibly damaging	Het
Olfr625-ps1	T	A	7: 103,683,574	N285K	probably damaging	Het
Olfr689	T	C	7: 105,314,951	Y316H	probably benign	Het
Olfr763	A	T	10: 129,011,287	M1L	probably benign	Het
Olfr938	T	A	9: 39,078,083	I221F	probably damaging	Het
Otoa	T	A	7: 121,094,601	L68Q	probably damaging	Het
Pclo	A	T	5: 14,680,385		probably benign	Het
Pcsk2	T	A	2: 143,749,140	Y186N	probably damaging	Het
Pigz	A	G	16: 31,945,428	T435A	probably benign	Het
Pja2	T	C	17: 64,309,090	D270G	probably benign	Het
Polb	G	T	8: 22,639,995	S187*	probably null	Het
Popdc3	A	G	10: 45,317,919	D272G	probably benign	Het
Prss36	T	C	7: 127,933,572	D716G	probably benign	Het
Rapgef5	T	A	12: 117,748,426	D547E	probably damaging	Het
Slc4a11	T	A	2: 130,685,052	I719F	probably damaging	Het
Smpd2	A	G	10: 41,489,348	W51R	probably damaging	Het
Sox9	A	G	11: 112,783,820	E148G	probably damaging	Het
Strbp	G	A	2: 37,625,255	T253I	probably damaging	Het
Sult1d1	A	T	5: 87,559,826	M145K	probably damaging	Het
Syt17	T	C	7: 118,436,918	D74G	probably benign	Het
Taf5l	A	C	8: 124,002,975		probably null	Het
Tas2r131	T	G	6: 132,957,676	I57L	probably benign	Het
Tcf25	A	G	8: 123,381,437	N77S	possibly damaging	Het
Tmem253	A	G	14: 52,017,811	T57A	possibly damaging	Het
Trrap	A	G	5: 144,849,920	K3170R	possibly damaging	Het
Tspan17	A	G	13: 54,793,298	N130S	probably damaging	Het
Vmn1r216	C	T	13: 23,099,197	L17F	probably damaging	Het
Vmn2r3	T	A	3: 64,275,277	T334S	probably benign	Het
Wnk2	G	T	13: 49,076,345	A901E	probably damaging	Het
Zc3hav1	T	C	6: 38,307,340	T947A	probably benign	Het
Zfhx3	C	T	8: 108,793,503	P419L	probably damaging	Het
Zfp292	A	G	4: 34,819,549	S258P	probably damaging	Het
Zfp354c	T	C	11: 50,815,426	Y274C	probably damaging	Het
Zfp652	G	A	11: 95,749,863	A205T	probably benign	Het
Zfp964	A	G	8: 69,663,913	T388A	unknown	Het

Other mutations in Snrpb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01640:Snrpb	APN	2	130175331	missense	probably benign	0.29
R3622:Snrpb	UTSW	2	130175379	missense	probably null	0.87
R3624:Snrpb	UTSW	2	130175379	missense	probably null	0.87
R7574:Snrpb	UTSW	2	130177019	missense	probably benign	0.18
R8472:Snrpb	UTSW	2	130173122	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- AGTTTAAAGCTACGGAGGCC -3'
(R):5'- ACACAATCCGTCAGCTGATG -3'

Sequencing Primer
(F):5'- GCAAGTCCAGGCCTTTGG -3'
(R):5'- GCTGATGCTAATGCTCCGC -3'

Posted On

2017-02-15