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

SM-B, SNRNP-B, SM11, SMB

MMRRC Submission

044102-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.964) question?

Stock #

R5905 (G1)

Quality Score

113

Status

Not validated

Chromosome

Chromosomal Location

130013555-130021323 bp(-) (GRCm39)

Type of Mutation

start gained

DNA Base Change (assembly)

T to A at 130021196 bp (GRCm39)

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: 36,533,718 (GRCm39)		probably null	Het
Acat1	A	T	9: 53,503,366 (GRCm39)	Y158N	probably damaging	Het
Adamtsl1	C	A	4: 86,260,561 (GRCm39)	A924E	probably damaging	Het
Alad	G	T	4: 62,428,359 (GRCm39)	T305K	probably benign	Het
Als2cl	G	T	9: 110,727,152 (GRCm39)	R906L	probably damaging	Het
Ap3d1	T	C	10: 80,558,761 (GRCm39)	N281S	possibly damaging	Het
Arf4	A	G	14: 26,375,079 (GRCm39)	T113A	probably benign	Het
Asah2	T	C	19: 31,993,914 (GRCm39)	D438G	probably damaging	Het
Cachd1	C	A	4: 100,840,753 (GRCm39)	N905K	probably damaging	Het
Catsperb	T	A	12: 101,568,959 (GRCm39)	M877K	possibly damaging	Het
Cc2d2a	A	T	5: 43,869,768 (GRCm39)	M890L	probably benign	Het
Cd180	A	T	13: 102,842,541 (GRCm39)	H529L	possibly damaging	Het
Cdh23	G	T	10: 60,370,314 (GRCm39)	D160E	probably damaging	Het
Chd7	C	A	4: 8,840,553 (GRCm39)	N1440K	possibly damaging	Het
Cntln	T	A	4: 84,889,410 (GRCm39)	S298T	probably benign	Het
Cplx3	A	G	9: 57,515,546 (GRCm39)	I443T	probably damaging	Het
Dmap1	G	T	4: 117,533,963 (GRCm39)	T132K	probably benign	Het
Dnah11	C	T	12: 117,918,659 (GRCm39)	G3424E	probably damaging	Het
Dnah5	T	A	15: 28,387,979 (GRCm39)	M3146K	probably damaging	Het
Egfr	A	T	11: 16,861,494 (GRCm39)	E1091V	probably damaging	Het
Eps8l2	T	C	7: 140,937,746 (GRCm39)	F422S	possibly damaging	Het
F2r	A	G	13: 95,741,121 (GRCm39)	V138A	possibly damaging	Het
Faf1	T	A	4: 109,748,126 (GRCm39)	M477K	probably benign	Het
Fam149b	C	T	14: 20,409,978 (GRCm39)	T235M	probably benign	Het
Fan1	C	A	7: 64,003,399 (GRCm39)	A808S	probably benign	Het
Fbxl20	A	G	11: 98,006,271 (GRCm39)	I38T	probably damaging	Het
Fnbp4	C	A	2: 90,581,478 (GRCm39)	T177K	probably benign	Het
Gm9747	T	C	1: 82,212,019 (GRCm39)		probably benign	Het
Grip1	A	G	10: 119,821,397 (GRCm39)	D354G	probably benign	Het
Grk4	A	C	5: 34,869,074 (GRCm39)	Y189S	probably damaging	Het
Hax1	GTCATCATCATCATCATC	GTCATCATCATCATCATCATC	3: 89,905,247 (GRCm39)		probably benign	Het
Hgfac	A	G	5: 35,199,706 (GRCm39)	N63D	probably benign	Het
Hk1	C	A	10: 62,188,837 (GRCm39)	K25N	probably null	Het
Hrc	G	A	7: 44,985,658 (GRCm39)	G270S	probably damaging	Het
Inhba	T	A	13: 16,191,893 (GRCm39)	W5R	probably benign	Het
Lipm	T	C	19: 34,089,311 (GRCm39)	S90P	probably benign	Het
Lmod3	T	A	6: 97,224,575 (GRCm39)	E415D	probably damaging	Het
Lrrc37	A	T	11: 103,505,081 (GRCm39)	S2296T	probably damaging	Het
Lrrc63	A	G	14: 75,323,614 (GRCm39)	S537P	possibly damaging	Het
Map9	T	A	3: 82,287,555 (GRCm39)		probably null	Het
Marf1	T	A	16: 13,945,113 (GRCm39)	Q1252L	probably damaging	Het
Mc3r	A	T	2: 172,091,129 (GRCm39)	D117V	probably damaging	Het
Mepce	A	G	5: 137,782,982 (GRCm39)	V448A	possibly damaging	Het
Mical1	A	T	10: 41,362,873 (GRCm39)	M973L	probably benign	Het
Mmp21	T	C	7: 133,280,443 (GRCm39)	T176A	probably benign	Het
Nacc2	A	G	2: 25,951,590 (GRCm39)	V415A	probably damaging	Het
Neb	G	A	2: 52,083,243 (GRCm39)	T1639I	probably damaging	Het
Nfia	A	G	4: 97,999,488 (GRCm39)	H485R	possibly damaging	Het
Nlrp9a	C	T	7: 26,257,762 (GRCm39)	T460I	probably benign	Het
Or10p21	A	T	10: 128,847,156 (GRCm39)	M1L	probably benign	Het
Or52z15	T	A	7: 103,332,781 (GRCm39)	N285K	probably damaging	Het
Or56b35	T	C	7: 104,964,158 (GRCm39)	Y316H	probably benign	Het
Or8g24	T	A	9: 38,989,379 (GRCm39)	I221F	probably damaging	Het
Or8k32	T	A	2: 86,369,113 (GRCm39)	I49F	possibly damaging	Het
Or9s13	T	A	1: 92,547,864 (GRCm39)	C79S	possibly damaging	Het
Otoa	T	A	7: 120,693,824 (GRCm39)	L68Q	probably damaging	Het
Pclo	A	T	5: 14,730,399 (GRCm39)		probably benign	Het
Pcsk2	T	A	2: 143,591,060 (GRCm39)	Y186N	probably damaging	Het
Pigz	A	G	16: 31,764,246 (GRCm39)	T435A	probably benign	Het
Pja2	T	C	17: 64,616,085 (GRCm39)	D270G	probably benign	Het
Polb	G	T	8: 23,130,011 (GRCm39)	S187*	probably null	Het
Popdc3	A	G	10: 45,194,015 (GRCm39)	D272G	probably benign	Het
Prr5	A	T	15: 84,626,178 (GRCm39)	K84N	possibly damaging	Het
Prss36	T	C	7: 127,532,744 (GRCm39)	D716G	probably benign	Het
Rapgef5	T	A	12: 117,712,161 (GRCm39)	D547E	probably damaging	Het
Slc4a11	T	A	2: 130,526,972 (GRCm39)	I719F	probably damaging	Het
Smpd2	A	G	10: 41,365,344 (GRCm39)	W51R	probably damaging	Het
Sox9	A	G	11: 112,674,646 (GRCm39)	E148G	probably damaging	Het
Strbp	G	A	2: 37,515,267 (GRCm39)	T253I	probably damaging	Het
Sult1d1	A	T	5: 87,707,685 (GRCm39)	M145K	probably damaging	Het
Syt17	T	C	7: 118,036,141 (GRCm39)	D74G	probably benign	Het
Taf5l	A	C	8: 124,729,714 (GRCm39)		probably null	Het
Tas2r131	T	G	6: 132,934,639 (GRCm39)	I57L	probably benign	Het
Tcf25	A	G	8: 124,108,176 (GRCm39)	N77S	possibly damaging	Het
Tmem253	A	G	14: 52,255,268 (GRCm39)	T57A	possibly damaging	Het
Trrap	A	G	5: 144,786,730 (GRCm39)	K3170R	possibly damaging	Het
Tspan17	A	G	13: 54,941,111 (GRCm39)	N130S	probably damaging	Het
Vmn1r216	C	T	13: 23,283,367 (GRCm39)	L17F	probably damaging	Het
Vmn2r3	T	A	3: 64,182,698 (GRCm39)	T334S	probably benign	Het
Wnk2	G	T	13: 49,229,821 (GRCm39)	A901E	probably damaging	Het
Zc3hav1	T	C	6: 38,284,275 (GRCm39)	T947A	probably benign	Het
Zfhx3	C	T	8: 109,520,135 (GRCm39)	P419L	probably damaging	Het
Zfp292	A	G	4: 34,819,549 (GRCm39)	S258P	probably damaging	Het
Zfp354c	T	C	11: 50,706,253 (GRCm39)	Y274C	probably damaging	Het
Zfp652	G	A	11: 95,640,689 (GRCm39)	A205T	probably benign	Het
Zfp964	A	G	8: 70,116,563 (GRCm39)	T388A	unknown	Het

Other mutations in Snrpb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01640:Snrpb	APN	2	130,017,251 (GRCm39)	missense	probably benign	0.29
R3622:Snrpb	UTSW	2	130,017,299 (GRCm39)	missense	probably null	0.87
R3624:Snrpb	UTSW	2	130,017,299 (GRCm39)	missense	probably null	0.87
R7574:Snrpb	UTSW	2	130,018,939 (GRCm39)	missense	probably benign	0.18
R8472:Snrpb	UTSW	2	130,015,042 (GRCm39)	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