Mutagenetix > Incidental Mutation

Incidental Mutation 'R4105:Snrnp200'

321332

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

040985-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4105 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

127050306-127082371 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 127069936 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 1027 (I1027N)

Ref Sequence

ENSEMBL: ENSMUSP00000099509 (fasta)

Gene Model

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

AlphaFold

Q6P4T2

Predicted Effect

probably damaging
Transcript: ENSMUST00000103220
AA Change: I1027N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000099509
Gene: ENSMUSG00000003660
AA Change: I1027N

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

Meta Mutation Damage Score

0.9731

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

96% (46/48)

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adar	T	C	3: 89,647,401 (GRCm39)	S127P	probably benign	Het
Arhgap31	A	G	16: 38,422,788 (GRCm39)	S1093P	probably damaging	Het
Asb18	T	C	1: 89,896,243 (GRCm39)	S266G	possibly damaging	Het
Atg9a	A	G	1: 75,162,603 (GRCm39)	Y471H	probably damaging	Het
Atosa	A	G	9: 74,916,058 (GRCm39)	Q226R	probably damaging	Het
Bmper	G	A	9: 23,136,059 (GRCm39)	V47I	probably benign	Het
Cel	T	C	2: 28,448,039 (GRCm39)	D329G	probably benign	Het
Ces2f	T	C	8: 105,677,824 (GRCm39)		probably null	Het
Cyp2j7	T	C	4: 96,087,687 (GRCm39)	T408A	possibly damaging	Het
Dchs1	A	C	7: 105,414,347 (GRCm39)	S823A	probably damaging	Het
Dnajb2	G	T	1: 75,213,543 (GRCm39)	E6*	probably null	Het
Eif2b3	G	A	4: 116,938,831 (GRCm39)	G427R	probably damaging	Het
Eml5	T	C	12: 98,807,807 (GRCm39)		probably null	Het
Fat1	A	G	8: 45,489,888 (GRCm39)	Y3600C	probably damaging	Het
Fbxo10	A	G	4: 45,059,054 (GRCm39)	F228L	probably benign	Het
Fgf7	T	A	2: 125,877,599 (GRCm39)		probably benign	Het
Gm2832	A	T	14: 41,002,856 (GRCm39)	M122L	unknown	Het
Lrrcc1	T	C	3: 14,615,388 (GRCm39)	V73A	probably benign	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Naip5	T	C	13: 100,356,247 (GRCm39)	R1123G	probably benign	Het
Nfya	G	T	17: 48,699,912 (GRCm39)	Y37*	probably null	Het
Or2o1	A	G	11: 49,051,375 (GRCm39)	H178R	possibly damaging	Het
Pikfyve	A	G	1: 65,229,679 (GRCm39)		probably benign	Het
Pnma8a	T	C	7: 16,695,104 (GRCm39)	S320P	possibly damaging	Het
Polr1a	A	G	6: 71,953,175 (GRCm39)	N1581S	probably damaging	Het
Polrmt	G	T	10: 79,577,567 (GRCm39)	T344K	probably benign	Het
Postn	T	C	3: 54,283,462 (GRCm39)	F514L	probably damaging	Het
Ptprq	G	T	10: 107,408,828 (GRCm39)	T1895N	probably damaging	Het
Slc15a2	G	T	16: 36,602,755 (GRCm39)		probably benign	Het
Slco2a1	T	A	9: 102,945,075 (GRCm39)	L150Q	probably benign	Het
Slco2a1	T	C	9: 102,950,449 (GRCm39)	F347S	probably damaging	Het
Smim13	T	A	13: 41,426,127 (GRCm39)	D54E	probably benign	Het
Sult6b1	G	T	17: 79,214,291 (GRCm39)	T6N	probably damaging	Het
Tas1r2	G	A	4: 139,387,363 (GRCm39)	R245H	probably benign	Het
Tpo	G	A	12: 30,142,585 (GRCm39)	P713L	probably damaging	Het
Trank1	T	C	9: 111,181,265 (GRCm39)	I429T	probably damaging	Het
Trip11	G	A	12: 101,860,581 (GRCm39)	R254*	probably null	Het
Vmn2r65	A	G	7: 84,595,691 (GRCm39)	V331A	probably benign	Het
Ypel3	T	C	7: 126,377,265 (GRCm39)	S82P	probably damaging	Het
Zfp128	T	C	7: 12,618,667 (GRCm39)	L55P	probably damaging	Het
Zscan4e	T	C	7: 11,041,437 (GRCm39)	D173G	probably benign	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
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
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

Predicted Primers

PCR Primer
(F):5'- AGTCACTTGATGTTAGAAGCTGGG -3'
(R):5'- TAGCGCTGGGTTCCTCAATG -3'

Sequencing Primer
(F):5'- GGGCTGATCTCTTACTGAGTC -3'
(R):5'- CAATGCTCTCCTTTACAGGGATGG -3'

Posted On

2015-06-12