Mutagenetix > Incidental Mutation

Incidental Mutation 'R0033:Snrnp200'

15391

Institutional Source

Beutler Lab

Gene Symbol

Snrnp200

Ensembl Gene

ENSMUSG00000003660

Gene Name

small nuclear ribonucleoprotein 200 (U5)

Synonyms

Ascc3l1, A330064G03Rik, HELIC2, U5-200KD

MMRRC Submission

038327-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0033 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

127050306-127082371 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 127079983 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 1920 (I1920T)

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 damaging
Transcript: ENSMUST00000103220
AA Change: I1920T

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000099509
Gene: ENSMUSG00000003660
AA Change: I1920T

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: ENSMUST00000131435

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143481

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143575

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

Meta Mutation Damage Score

0.1230

Coding Region Coverage

1x: 80.0%
3x: 71.7%
10x: 49.2%
20x: 29.7%

Validation Efficiency

96% (74/77)

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agr3	C	T	12: 35,978,329 (GRCm39)	T14M	possibly damaging	Het
Aldh9a1	T	C	1: 167,184,140 (GRCm39)	S212P	probably damaging	Het
Ank2	T	A	3: 126,898,397 (GRCm39)		probably benign	Het
Cdkn3	C	A	14: 47,006,329 (GRCm39)	Y141*	probably null	Het
Ceacam12	T	G	7: 17,803,385 (GRCm39)		probably benign	Het
Celf1	T	C	2: 90,831,798 (GRCm39)		probably benign	Het
Col6a3	A	G	1: 90,729,967 (GRCm39)	S1780P	probably damaging	Het
Cpxm2	T	C	7: 131,663,886 (GRCm39)	I346V	possibly damaging	Het
Csf3r	A	G	4: 125,925,677 (GRCm39)	T151A	probably benign	Het
Ctss	G	A	3: 95,452,888 (GRCm39)		probably benign	Het
Erp44	T	C	4: 48,241,289 (GRCm39)		probably benign	Het
Hibch	A	G	1: 52,944,610 (GRCm39)	K296R	probably null	Het
Katnip	T	G	7: 125,360,999 (GRCm39)	V103G	possibly damaging	Het
Kirrel3	A	G	9: 34,912,259 (GRCm39)	I208V	probably benign	Het
Lrrc8a	G	T	2: 30,145,357 (GRCm39)	C57F	probably damaging	Het
Ltbp1	A	G	17: 75,583,504 (GRCm39)	N435D	possibly damaging	Het
Myo16	A	T	8: 10,420,955 (GRCm39)	Y265F	probably damaging	Het
Nckap5	A	G	1: 125,867,979 (GRCm39)		probably benign	Het
Nlrp12	A	C	7: 3,289,037 (GRCm39)	S492A	probably damaging	Het
Pwwp2b	A	T	7: 138,834,844 (GRCm39)	D95V	possibly damaging	Het
Rarg	T	A	15: 102,147,270 (GRCm39)	I372F	probably damaging	Het
Sv2b	A	G	7: 74,767,489 (GRCm39)	F636L	probably benign	Het
Thra	G	A	11: 98,655,178 (GRCm39)	V353I	probably benign	Het
Tm7sf2	A	G	19: 6,116,452 (GRCm39)		probably benign	Het
Tmx4	A	T	2: 134,442,918 (GRCm39)		probably null	Het
Tnfrsf12a	A	G	17: 23,895,119 (GRCm39)		probably null	Het
Uba5	T	A	9: 103,931,347 (GRCm39)	T241S	probably benign	Het
Zfp420	A	G	7: 29,573,987 (GRCm39)	D69G	probably benign	Het
Zfp64	A	T	2: 168,767,635 (GRCm39)	I659N	possibly damaging	Het

Other mutations in Snrnp200

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00482:Snrnp200	APN	2	127,072,055 (GRCm39)	missense	possibly damaging	0.80
IGL01013:Snrnp200	APN	2	127,074,392 (GRCm39)	missense	probably damaging	1.00
IGL01073:Snrnp200	APN	2	127,056,832 (GRCm39)	splice site	probably benign
IGL01319:Snrnp200	APN	2	127,072,047 (GRCm39)	splice site	probably benign
IGL01597:Snrnp200	APN	2	127,080,652 (GRCm39)	unclassified	probably benign
IGL01631:Snrnp200	APN	2	127,080,744 (GRCm39)	unclassified	probably benign
IGL01646:Snrnp200	APN	2	127,064,148 (GRCm39)	missense	probably benign	0.00
IGL02019:Snrnp200	APN	2	127,074,825 (GRCm39)	missense	possibly damaging	0.94
IGL02158:Snrnp200	APN	2	127,079,403 (GRCm39)	missense	probably benign	0.05
IGL02269:Snrnp200	APN	2	127,071,911 (GRCm39)	missense	possibly damaging	0.67
IGL02288:Snrnp200	APN	2	127,071,815 (GRCm39)	missense	probably damaging	1.00
IGL02437:Snrnp200	APN	2	127,058,030 (GRCm39)	missense	probably damaging	1.00
IGL02476:Snrnp200	APN	2	127,059,408 (GRCm39)	missense	probably benign	0.41
IGL02613:Snrnp200	APN	2	127,060,346 (GRCm39)	missense	probably damaging	0.98
IGL02898:Snrnp200	APN	2	127,058,676 (GRCm39)	splice site	probably benign
IGL03108:Snrnp200	APN	2	127,080,087 (GRCm39)	missense	possibly damaging	0.82
IGL03143:Snrnp200	APN	2	127,071,962 (GRCm39)	critical splice donor site	probably benign
IGL03237:Snrnp200	APN	2	127,075,233 (GRCm39)	missense	probably damaging	0.99
R0012:Snrnp200	UTSW	2	127,070,469 (GRCm39)	missense	probably benign	0.35
R0012:Snrnp200	UTSW	2	127,070,469 (GRCm39)	missense	probably benign	0.35
R0033:Snrnp200	UTSW	2	127,079,983 (GRCm39)	missense	probably damaging	0.97
R0047:Snrnp200	UTSW	2	127,076,874 (GRCm39)	splice site	probably benign
R0047:Snrnp200	UTSW	2	127,076,874 (GRCm39)	splice site	probably benign
R0057:Snrnp200	UTSW	2	127,079,827 (GRCm39)	missense	probably damaging	0.96
R0270:Snrnp200	UTSW	2	127,074,902 (GRCm39)	missense	probably damaging	0.97
R0626:Snrnp200	UTSW	2	127,063,734 (GRCm39)	missense	possibly damaging	0.46
R0731:Snrnp200	UTSW	2	127,068,065 (GRCm39)	splice site	probably benign
R1175:Snrnp200	UTSW	2	127,070,997 (GRCm39)	missense	probably damaging	1.00
R1184:Snrnp200	UTSW	2	127,078,737 (GRCm39)	missense	probably damaging	1.00
R1383:Snrnp200	UTSW	2	127,060,331 (GRCm39)	missense	probably benign	0.10
R1444:Snrnp200	UTSW	2	127,070,158 (GRCm39)	splice site	probably benign
R1757:Snrnp200	UTSW	2	127,074,363 (GRCm39)	missense	probably damaging	1.00
R1794:Snrnp200	UTSW	2	127,058,656 (GRCm39)	missense	probably benign
R1808:Snrnp200	UTSW	2	127,060,948 (GRCm39)	critical splice acceptor site	probably null
R1808:Snrnp200	UTSW	2	127,060,947 (GRCm39)	critical splice acceptor site	probably null
R1957:Snrnp200	UTSW	2	127,058,095 (GRCm39)	missense	possibly damaging	0.69
R2007:Snrnp200	UTSW	2	127,068,968 (GRCm39)	missense	probably damaging	1.00
R2039:Snrnp200	UTSW	2	127,076,904 (GRCm39)	missense	probably benign	0.19
R2070:Snrnp200	UTSW	2	127,079,803 (GRCm39)	missense	probably benign	0.00
R2070:Snrnp200	UTSW	2	127,054,323 (GRCm39)	missense	possibly damaging	0.89
R2892:Snrnp200	UTSW	2	127,073,697 (GRCm39)	missense	probably damaging	0.99
R3236:Snrnp200	UTSW	2	127,063,802 (GRCm39)	missense	probably damaging	1.00
R3862:Snrnp200	UTSW	2	127,075,019 (GRCm39)	splice site	probably benign
R4028:Snrnp200	UTSW	2	127,079,486 (GRCm39)	missense	probably damaging	0.99
R4105:Snrnp200	UTSW	2	127,069,936 (GRCm39)	missense	probably damaging	1.00
R4328:Snrnp200	UTSW	2	127,064,137 (GRCm39)	missense	probably damaging	0.99
R4471:Snrnp200	UTSW	2	127,080,673 (GRCm39)	missense	probably benign	0.03
R4526:Snrnp200	UTSW	2	127,071,022 (GRCm39)	missense	probably benign
R4575:Snrnp200	UTSW	2	127,076,986 (GRCm39)	missense	probably benign	0.00
R4710:Snrnp200	UTSW	2	127,068,053 (GRCm39)	missense	probably damaging	1.00
R4728:Snrnp200	UTSW	2	127,069,798 (GRCm39)	missense	possibly damaging	0.89
R4728:Snrnp200	UTSW	2	127,059,334 (GRCm39)	missense	probably damaging	1.00
R4729:Snrnp200	UTSW	2	127,074,857 (GRCm39)	missense	probably damaging	0.99
R4828:Snrnp200	UTSW	2	127,053,527 (GRCm39)	missense	probably damaging	0.99
R5082:Snrnp200	UTSW	2	127,068,290 (GRCm39)	nonsense	probably null
R5213:Snrnp200	UTSW	2	127,073,661 (GRCm39)	missense	probably damaging	1.00
R5287:Snrnp200	UTSW	2	127,073,607 (GRCm39)	missense	probably benign	0.13
R5486:Snrnp200	UTSW	2	127,074,986 (GRCm39)	missense	possibly damaging	0.82
R5595:Snrnp200	UTSW	2	127,067,933 (GRCm39)	missense	probably damaging	0.99
R5598:Snrnp200	UTSW	2	127,068,007 (GRCm39)	missense	possibly damaging	0.64
R5681:Snrnp200	UTSW	2	127,067,055 (GRCm39)	missense	probably damaging	1.00
R6207:Snrnp200	UTSW	2	127,052,655 (GRCm39)	missense	probably benign	0.00
R6258:Snrnp200	UTSW	2	127,060,343 (GRCm39)	missense	possibly damaging	0.60
R6259:Snrnp200	UTSW	2	127,060,343 (GRCm39)	missense	possibly damaging	0.60
R6299:Snrnp200	UTSW	2	127,064,081 (GRCm39)	nonsense	probably null
R6434:Snrnp200	UTSW	2	127,080,574 (GRCm39)	missense	probably damaging	1.00
R6522:Snrnp200	UTSW	2	127,063,747 (GRCm39)	missense	probably benign	0.12
R6647:Snrnp200	UTSW	2	127,068,372 (GRCm39)	missense	probably damaging	1.00
R6785:Snrnp200	UTSW	2	127,071,085 (GRCm39)	missense	possibly damaging	0.70
R7027:Snrnp200	UTSW	2	127,059,192 (GRCm39)	missense	probably benign	0.09
R7358:Snrnp200	UTSW	2	127,063,746 (GRCm39)	missense	probably benign	0.03
R7436:Snrnp200	UTSW	2	127,068,404 (GRCm39)	critical splice donor site	probably null
R7587:Snrnp200	UTSW	2	127,069,822 (GRCm39)	missense	probably damaging	1.00
R7672:Snrnp200	UTSW	2	127,063,822 (GRCm39)	missense	probably damaging	1.00
R7731:Snrnp200	UTSW	2	127,071,022 (GRCm39)	missense	probably benign
R7841:Snrnp200	UTSW	2	127,078,754 (GRCm39)	missense	probably benign	0.23
R7863:Snrnp200	UTSW	2	127,073,609 (GRCm39)	missense	probably damaging	1.00
R7916:Snrnp200	UTSW	2	127,074,979 (GRCm39)	missense	possibly damaging	0.51
R8117:Snrnp200	UTSW	2	127,071,051 (GRCm39)	missense	probably benign
R8262:Snrnp200	UTSW	2	127,068,928 (GRCm39)	missense	probably damaging	1.00
R8551:Snrnp200	UTSW	2	127,068,971 (GRCm39)	missense	probably benign	0.03
R8675:Snrnp200	UTSW	2	127,074,443 (GRCm39)	missense	possibly damaging	0.94
R8754:Snrnp200	UTSW	2	127,068,005 (GRCm39)	missense	probably damaging	1.00
R8852:Snrnp200	UTSW	2	127,060,349 (GRCm39)	missense	probably damaging	0.99
R8899:Snrnp200	UTSW	2	127,078,517 (GRCm39)	missense	probably damaging	1.00
R8937:Snrnp200	UTSW	2	127,068,902 (GRCm39)	missense	probably benign	0.04
R9030:Snrnp200	UTSW	2	127,053,466 (GRCm39)	intron	probably benign
R9260:Snrnp200	UTSW	2	127,078,428 (GRCm39)	missense	probably damaging	1.00
R9366:Snrnp200	UTSW	2	127,058,010 (GRCm39)	missense	probably benign	0.01
R9385:Snrnp200	UTSW	2	127,079,978 (GRCm39)	critical splice acceptor site	probably null
R9478:Snrnp200	UTSW	2	127,076,993 (GRCm39)	critical splice donor site	probably null
R9652:Snrnp200	UTSW	2	127,067,959 (GRCm39)	missense	probably damaging	1.00
R9653:Snrnp200	UTSW	2	127,067,959 (GRCm39)	missense	probably damaging	1.00
R9733:Snrnp200	UTSW	2	127,068,240 (GRCm39)	missense	probably damaging	1.00
RF016:Snrnp200	UTSW	2	127,072,476 (GRCm39)	missense	probably damaging	1.00
Z1176:Snrnp200	UTSW	2	127,076,895 (GRCm39)	missense	probably benign	0.10
Z1177:Snrnp200	UTSW	2	127,077,951 (GRCm39)	missense	probably benign	0.04

Posted On

2012-12-17