Mutagenetix > Incidental Mutation

Incidental Mutation 'R9385:Snrnp200'

710239

Institutional Source

Beutler Lab

Gene Symbol

Snrnp200

Ensembl Gene

ENSMUSG00000003660

Gene Name

small nuclear ribonucleoprotein 200 (U5)

Synonyms

HELIC2, U5-200KD, A330064G03Rik, Ascc3l1

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R9385 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

127208386-127240451 bp(+) (GRCm38)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

G to A at 127238058 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000099509 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003759] [ENSMUST00000103220] [ENSMUST00000174030] [ENSMUST00000174863]

AlphaFold

Q6P4T2

Predicted Effect

probably benign
Transcript: ENSMUST00000003759

SMART Domains

Protein: ENSMUSP00000003759
Gene: ENSMUSG00000003662

Domain	Start	End	E-Value	Type
WD40	4	44	6.73e-6	SMART
WD40	49	89	4.27e-8	SMART
WD40	94	133	5.22e-12	SMART
WD40	139	178	6.04e-8	SMART
WD40	183	222	9.22e-13	SMART
WD40	240	280	8.04e-4	SMART
WD40	291	332	5.26e-8	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000103220

SMART Domains

Protein: ENSMUSP00000099509
Gene: ENSMUSG00000003660

Domain	Start	End	E-Value	Type
low complexity region	65	78	N/A	INTRINSIC
low complexity region	206	223	N/A	INTRINSIC
low complexity region	373	386	N/A	INTRINSIC
DEXDc	477	690	2.63e-30	SMART
AAA	495	680	5.77e-2	SMART
HELICc	768	860	3.76e-17	SMART
low complexity region	876	887	N/A	INTRINSIC
Sec63	981	1286	2.62e-128	SMART
DEXDc	1324	1528	1.43e-31	SMART
AAA	1342	1533	2.39e0	SMART
HELICc	1607	1695	1.26e-9	SMART
Sec63	1812	2124	1.39e-118	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000174030

SMART Domains

Protein: ENSMUSP00000134189
Gene: ENSMUSG00000003662

Domain	Start	End	E-Value	Type
WD40	4	44	6.73e-6	SMART
WD40	49	89	4.27e-8	SMART
WD40	94	133	5.22e-12	SMART
WD40	139	178	6.04e-8	SMART
WD40	183	222	9.22e-13	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000174863

SMART Domains

Protein: ENSMUSP00000134159
Gene: ENSMUSG00000003662

Domain	Start	End	E-Value	Type
WD40	4	44	6.73e-6	SMART
WD40	49	89	4.27e-8	SMART
WD40	94	133	5.22e-12	SMART
WD40	139	176	1.38e1	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

MGI Phenotype

FUNCTION: On February 19, 2002, this locus was switched from human to mouse. The source accession, Z70200.1, is almost identical to the mouse BAC clone AC074224, and it matches the mouse cDNA accession BC011390 as well. The human gene is LocusID 23020. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit embryonic lethality before implantation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	C	12: 71,161,192	I554T	possibly damaging	Het
4930435E12Rik	T	G	16: 38,828,045	D234A	probably benign	Het
Adamts7	C	A	9: 90,195,205	C1308*	probably null	Het
Ank2	A	G	3: 126,959,717	V305A	probably benign	Het
Apob	A	G	12: 8,006,399	N1627S	possibly damaging	Het
Atp10a	A	T	7: 58,828,139	Q1310L	probably benign	Het
Atp8b4	A	T	2: 126,480,631	Y29*	probably null	Het
Card11	C	A	5: 140,885,521	R742S	probably benign	Het
Ccdc88a	A	G	11: 29,455,422	D365G	probably benign	Het
Ccdc88b	G	A	19: 6,856,165	R211W	probably benign	Het
Cda	T	G	4: 138,351,287	I55L	probably benign	Het
Cdkl3	A	C	11: 52,035,952	E577D	probably benign	Het
Cel	T	C	2: 28,560,575	D146G	probably damaging	Het
Cmya5	A	G	13: 93,094,372	S1403P	probably damaging	Het
Cntn2	G	A	1: 132,528,174	S202L	probably damaging	Het
Col15a1	C	T	4: 47,300,473	Q1045*	probably null	Het
Csmd1	T	C	8: 15,984,756	T2472A	probably benign	Het
Ctbp2	G	A	7: 132,999,340	R22C	probably benign	Het
Ddit4	A	G	10: 59,951,356	S53P	probably damaging	Het
Ddx52	G	T	11: 83,952,270	C365F	probably damaging	Het
Dnhd1	C	A	7: 105,712,765	L3677I	probably damaging	Het
Dscam	T	C	16: 97,039,003	T135A	probably benign	Het
Espl1	T	A	15: 102,298,750	D216E	probably damaging	Het
Fsip2	T	A	2: 82,989,449	D5175E	possibly damaging	Het
Fxr1	A	G	3: 34,019,971		probably benign	Het
Fyb	A	G	15: 6,634,816	D460G	probably benign	Het
Gm3264	T	C	14: 4,871,178	I8T	possibly damaging	Het
Gm35339	A	G	15: 76,356,167	T352A		Het
Gsdmc	A	T	15: 63,803,637	Y110N	possibly damaging	Het
H13	A	G	2: 152,695,493	N286S	probably benign	Het
Heatr1	A	G	13: 12,406,542	D441G	probably damaging	Het
Hist1h2aa	A	T	13: 23,934,696	I79F	probably damaging	Het
Hps6	A	G	19: 46,005,910	D762G	probably damaging	Het
Hyou1	C	A	9: 44,381,515	Q141K	probably benign	Het
Lpin3	T	C	2: 160,897,073	I267T	probably benign	Het
Mdc1	A	G	17: 35,850,504	K770E	probably benign	Het
Mlh3	C	T	12: 85,269,370	R14H	probably damaging	Het
Nfxl1	C	A	5: 72,537,407	V478F	probably benign	Het
Nhlrc3	A	G	3: 53,453,594	W247R	probably damaging	Het
Nlrc3	C	T	16: 3,964,012	G527D	probably damaging	Het
Nop9	A	G	14: 55,751,127	E342G	probably benign	Het
Ntn1	C	A	11: 68,385,187	G312C	probably damaging	Het
Olfr288	C	T	15: 98,187,605	S64N	probably damaging	Het
Olfr474	T	A	7: 107,955,573	*311K	probably null	Het
Opcml	T	C	9: 28,675,163	V59A	possibly damaging	Het
Opn1sw	T	G	6: 29,379,426	Y193S	probably damaging	Het
Pabpc4l	A	T	3: 46,446,702	V169E	probably damaging	Het
Pde3a	A	G	6: 141,492,256	D1017G	probably benign	Het
Plagl2	C	T	2: 153,232,318	C221Y	probably damaging	Het
Plppr4	G	T	3: 117,322,728	N493K	possibly damaging	Het
Plxna2	T	C	1: 194,749,416	V571A	possibly damaging	Het
Pnma2	A	G	14: 66,915,922		probably benign	Het
Rnf123	T	A	9: 108,052,268	E1234D	probably benign	Het
Sfi1	ACA	ACATCTTCCCAAAGCCAGTCA	11: 3,153,382		probably benign	Het
Slc22a23	T	C	13: 34,344,578	S74G	probably benign	Het
Slc36a4	T	C	9: 15,734,267	I330T	probably damaging	Het
Snrk	A	T	9: 122,166,397	D414V	probably benign	Het
Spata31d1b	T	C	13: 59,715,589	S184P	probably damaging	Het
Tas2r140	A	T	6: 133,055,278	N172K	probably benign	Het
Tbc1d4	G	T	14: 101,462,920	Q858K	probably damaging	Het
Tial1	A	G	7: 128,442,485	C102R	unknown	Het
Ugt8a	A	T	3: 125,871,614	D411E	probably benign	Het
Usp34	A	G	11: 23,449,223	D2404G		Het
Vmn1r10	A	C	6: 57,113,848	I142L	probably benign	Het
Wdr66	T	C	5: 123,288,815	L919S	probably damaging	Het
Xpo7	A	T	14: 70,688,293	D435E	probably damaging	Het
Zmym1	A	G	4: 127,058,890	S33P	probably damaging	Het

Other mutations in Snrnp200

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00482:Snrnp200	APN	2	127230135	missense	possibly damaging	0.80
IGL01013:Snrnp200	APN	2	127232472	missense	probably damaging	1.00
IGL01073:Snrnp200	APN	2	127214912	splice site	probably benign
IGL01319:Snrnp200	APN	2	127230127	splice site	probably benign
IGL01597:Snrnp200	APN	2	127238732	unclassified	probably benign
IGL01631:Snrnp200	APN	2	127238824	unclassified	probably benign
IGL01646:Snrnp200	APN	2	127222228	missense	probably benign	0.00
IGL02019:Snrnp200	APN	2	127232905	missense	possibly damaging	0.94
IGL02158:Snrnp200	APN	2	127237483	missense	probably benign	0.05
IGL02269:Snrnp200	APN	2	127229991	missense	possibly damaging	0.67
IGL02288:Snrnp200	APN	2	127229895	missense	probably damaging	1.00
IGL02437:Snrnp200	APN	2	127216110	missense	probably damaging	1.00
IGL02476:Snrnp200	APN	2	127217488	missense	probably benign	0.41
IGL02613:Snrnp200	APN	2	127218426	missense	probably damaging	0.98
IGL02898:Snrnp200	APN	2	127216756	splice site	probably benign
IGL03108:Snrnp200	APN	2	127238167	missense	possibly damaging	0.82
IGL03143:Snrnp200	APN	2	127230042	critical splice donor site	probably benign
IGL03237:Snrnp200	APN	2	127233313	missense	probably damaging	0.99
R0012:Snrnp200	UTSW	2	127228549	missense	probably benign	0.35
R0012:Snrnp200	UTSW	2	127228549	missense	probably benign	0.35
R0033:Snrnp200	UTSW	2	127238063	missense	probably damaging	0.97
R0033:Snrnp200	UTSW	2	127238063	missense	probably damaging	0.97
R0047:Snrnp200	UTSW	2	127234954	splice site	probably benign
R0047:Snrnp200	UTSW	2	127234954	splice site	probably benign
R0057:Snrnp200	UTSW	2	127237907	missense	probably damaging	0.96
R0270:Snrnp200	UTSW	2	127232982	missense	probably damaging	0.97
R0626:Snrnp200	UTSW	2	127221814	missense	possibly damaging	0.46
R0731:Snrnp200	UTSW	2	127226145	splice site	probably benign
R1175:Snrnp200	UTSW	2	127229077	missense	probably damaging	1.00
R1184:Snrnp200	UTSW	2	127236817	missense	probably damaging	1.00
R1383:Snrnp200	UTSW	2	127218411	missense	probably benign	0.10
R1444:Snrnp200	UTSW	2	127228238	splice site	probably benign
R1757:Snrnp200	UTSW	2	127232443	missense	probably damaging	1.00
R1794:Snrnp200	UTSW	2	127216736	missense	probably benign
R1808:Snrnp200	UTSW	2	127219027	critical splice acceptor site	probably null
R1808:Snrnp200	UTSW	2	127219028	critical splice acceptor site	probably null
R1957:Snrnp200	UTSW	2	127216175	missense	possibly damaging	0.69
R2007:Snrnp200	UTSW	2	127227048	missense	probably damaging	1.00
R2039:Snrnp200	UTSW	2	127234984	missense	probably benign	0.19
R2070:Snrnp200	UTSW	2	127212403	missense	possibly damaging	0.89
R2070:Snrnp200	UTSW	2	127237883	missense	probably benign	0.00
R2892:Snrnp200	UTSW	2	127231777	missense	probably damaging	0.99
R3236:Snrnp200	UTSW	2	127221882	missense	probably damaging	1.00
R3862:Snrnp200	UTSW	2	127233099	splice site	probably benign
R4028:Snrnp200	UTSW	2	127237566	missense	probably damaging	0.99
R4105:Snrnp200	UTSW	2	127228016	missense	probably damaging	1.00
R4328:Snrnp200	UTSW	2	127222217	missense	probably damaging	0.99
R4471:Snrnp200	UTSW	2	127238753	missense	probably benign	0.03
R4526:Snrnp200	UTSW	2	127229102	missense	probably benign
R4575:Snrnp200	UTSW	2	127235066	missense	probably benign	0.00
R4710:Snrnp200	UTSW	2	127226133	missense	probably damaging	1.00
R4728:Snrnp200	UTSW	2	127217414	missense	probably damaging	1.00
R4728:Snrnp200	UTSW	2	127227878	missense	possibly damaging	0.89
R4729:Snrnp200	UTSW	2	127232937	missense	probably damaging	0.99
R4828:Snrnp200	UTSW	2	127211607	missense	probably damaging	0.99
R5082:Snrnp200	UTSW	2	127226370	nonsense	probably null
R5213:Snrnp200	UTSW	2	127231741	missense	probably damaging	1.00
R5287:Snrnp200	UTSW	2	127231687	missense	probably benign	0.13
R5486:Snrnp200	UTSW	2	127233066	missense	possibly damaging	0.82
R5595:Snrnp200	UTSW	2	127226013	missense	probably damaging	0.99
R5598:Snrnp200	UTSW	2	127226087	missense	possibly damaging	0.64
R5681:Snrnp200	UTSW	2	127225135	missense	probably damaging	1.00
R6207:Snrnp200	UTSW	2	127210735	missense	probably benign	0.00
R6258:Snrnp200	UTSW	2	127218423	missense	possibly damaging	0.60
R6259:Snrnp200	UTSW	2	127218423	missense	possibly damaging	0.60
R6299:Snrnp200	UTSW	2	127222161	nonsense	probably null
R6434:Snrnp200	UTSW	2	127238654	missense	probably damaging	1.00
R6522:Snrnp200	UTSW	2	127221827	missense	probably benign	0.12
R6647:Snrnp200	UTSW	2	127226452	missense	probably damaging	1.00
R6785:Snrnp200	UTSW	2	127229165	missense	possibly damaging	0.70
R7027:Snrnp200	UTSW	2	127217272	missense	probably benign	0.09
R7358:Snrnp200	UTSW	2	127221826	missense	probably benign	0.03
R7436:Snrnp200	UTSW	2	127226484	critical splice donor site	probably null
R7587:Snrnp200	UTSW	2	127227902	missense	probably damaging	1.00
R7672:Snrnp200	UTSW	2	127221902	missense	probably damaging	1.00
R7731:Snrnp200	UTSW	2	127229102	missense	probably benign
R7841:Snrnp200	UTSW	2	127236834	missense	probably benign	0.23
R7863:Snrnp200	UTSW	2	127231689	missense	probably damaging	1.00
R7916:Snrnp200	UTSW	2	127233059	missense	possibly damaging	0.51
R8117:Snrnp200	UTSW	2	127229131	missense	probably benign
R8262:Snrnp200	UTSW	2	127227008	missense	probably damaging	1.00
R8551:Snrnp200	UTSW	2	127227051	missense	probably benign	0.03
R8675:Snrnp200	UTSW	2	127232523	missense	possibly damaging	0.94
R8754:Snrnp200	UTSW	2	127226085	missense	probably damaging	1.00
R8852:Snrnp200	UTSW	2	127218429	missense	probably damaging	0.99
R8899:Snrnp200	UTSW	2	127236597	missense	probably damaging	1.00
R8937:Snrnp200	UTSW	2	127226982	missense	probably benign	0.04
R9030:Snrnp200	UTSW	2	127211546	intron	probably benign
R9260:Snrnp200	UTSW	2	127236508	missense	probably damaging	1.00
R9366:Snrnp200	UTSW	2	127216090	missense	probably benign	0.01
R9478:Snrnp200	UTSW	2	127235073	critical splice donor site	probably null
R9652:Snrnp200	UTSW	2	127226039	missense	probably damaging	1.00
R9653:Snrnp200	UTSW	2	127226039	missense	probably damaging	1.00
R9733:Snrnp200	UTSW	2	127226320	missense	probably damaging	1.00
RF016:Snrnp200	UTSW	2	127230556	missense	probably damaging	1.00
Z1176:Snrnp200	UTSW	2	127234975	missense	probably benign	0.10
Z1177:Snrnp200	UTSW	2	127236031	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- CATGTGAAGACCAATCTGCTG -3'
(R):5'- GCAATGTTCTGAAGCGCATC -3'

Sequencing Primer
(F):5'- TGCTGCTGCAGGCTCAC -3'
(R):5'- GTTCTGAAGCGCATCACCCAG -3'

Posted On

2022-04-18