Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01319:Snrnp200'

73994

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL01319

Quality Score

Status

Chromosome

Chromosomal Location

127208386-127240451 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 127230127 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000099509 (fasta)

Gene Model

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

Predicted Effect

probably benign
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

noncoding transcript
Transcript: ENSMUST00000140868

Coding Region Coverage

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd18	T	A	3: 40,933,642	V307E	probably benign	Het
Bub1b	T	C	2: 118,614,994	I265T	possibly damaging	Het
Cntnap3	G	A	13: 64,787,837	T404I	probably damaging	Het
Disc1	T	C	8: 125,087,891	S165P	probably damaging	Het
Dock1	T	C	7: 134,789,278	F756L	probably benign	Het
Dock2	A	G	11: 34,698,790	V480A	possibly damaging	Het
Drc3	A	G	11: 60,364,962	D125G	probably null	Het
Emid1	C	T	11: 5,143,859	C96Y	probably damaging	Het
F13b	A	G	1: 139,506,793	N99S	probably damaging	Het
Fam20a	A	G	11: 109,678,458		probably benign	Het
Fancd2	C	A	6: 113,584,899	T1243K	probably damaging	Het
Fbxw14	T	C	9: 109,278,791	K172E	probably damaging	Het
Gm13941	T	C	2: 111,094,805		probably null	Het
Gtpbp4	A	T	13: 8,985,260	N354K	probably benign	Het
Igkv2-116	T	C	6: 68,152,404	L50P	probably benign	Het
Klrb1-ps1	C	T	6: 129,116,585	P23L	possibly damaging	Het
Kng2	T	A	16: 23,028,834	I26F	probably damaging	Het
Krt81	G	A	15: 101,463,388	H104Y	probably benign	Het
Lrpprc	T	C	17: 84,705,412		probably benign	Het
Man2a2	C	T	7: 80,361,132	V704M	possibly damaging	Het
Mbip	A	G	12: 56,330,242	V303A	probably benign	Het
Mipep	A	T	14: 60,843,271	M571L	probably benign	Het
Ncan	A	T	8: 70,097,562	V1188D	probably damaging	Het
Pcdhb4	T	C	18: 37,308,513	V292A	probably benign	Het
Pkd1	T	C	17: 24,587,919		probably benign	Het
Ppp2r2c	T	A	5: 36,947,121	S282T	possibly damaging	Het
Rad54l2	C	T	9: 106,719,046	G231D	probably benign	Het
Rnf20	T	G	4: 49,649,326	D443E	probably damaging	Het
Rptor	A	G	11: 119,891,170	M1108V	probably benign	Het
Serpine2	A	G	1: 79,810,694	V182A	probably damaging	Het
Sesn2	C	T	4: 132,499,967		probably benign	Het
Shank1	C	A	7: 44,353,123	A1422E	possibly damaging	Het
Slc13a4	C	T	6: 35,307,353		probably null	Het
Src	G	A	2: 157,469,503	G461R	probably damaging	Het
Tbxas1	A	G	6: 39,017,973	I178V	probably benign	Het
Tmem2	C	T	19: 21,844,757	P1172L	possibly damaging	Het
Triml1	A	G	8: 43,141,397		probably benign	Het
Tsen2	A	T	6: 115,576,984	Q441L	probably damaging	Het
Ttc23l	A	G	15: 10,509,406		probably benign	Het
Ttc37	A	G	13: 76,129,379	H491R	probably benign	Het
Ttn	T	C	2: 76,881,304		probably benign	Het
Vsig10l	C	T	7: 43,465,254	S293L	probably damaging	Het
Zcchc13	C	A	X: 103,631,000	Q110K	possibly 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
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
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

Posted On

2013-10-07