Mutagenetix > Incidental Mutation

Incidental Mutation 'R4526:Snrnp200'

334435

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

041591-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4526 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

127050306-127082371 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 127071022 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 1101 (N1101S)

Ref Sequence

ENSEMBL: ENSMUSP00000099509 (fasta)

Gene Model

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

AlphaFold

Q6P4T2

Predicted Effect

probably benign
Transcript: ENSMUST00000103220
AA Change: N1101S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000099509
Gene: ENSMUSG00000003660
AA Change: N1101S

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

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.4%

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930474N05Rik	C	T	14: 35,818,535 (GRCm39)	R178C	probably damaging	Het
Adamts16	G	A	13: 70,927,637 (GRCm39)		probably benign	Het
Adgre4	C	A	17: 56,092,016 (GRCm39)	S92*	probably null	Het
Arl13b	T	C	16: 62,632,374 (GRCm39)	D73G	probably damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Crebzf	A	C	7: 90,092,968 (GRCm39)	E16A	possibly damaging	Het
D430041D05Rik	A	G	2: 104,022,778 (GRCm39)		probably null	Het
Dnah1	C	A	14: 31,007,955 (GRCm39)	D2151Y	probably benign	Het
Gli3	A	G	13: 15,888,216 (GRCm39)	K544E	probably damaging	Het
Gm17542	T	C	10: 58,549,435 (GRCm39)	D31G	probably null	Het
Lcn9	A	C	2: 25,714,520 (GRCm39)	K128T	possibly damaging	Het
Lman2l	T	C	1: 36,477,844 (GRCm39)	E164G	probably damaging	Het
Lpin2	T	A	17: 71,544,373 (GRCm39)		probably null	Het
Ly75	G	A	2: 60,161,117 (GRCm39)	T900M	probably benign	Het
Mapk15	A	T	15: 75,867,104 (GRCm39)	I74F	possibly damaging	Het
Myh10	C	T	11: 68,705,875 (GRCm39)	T2007I	probably benign	Het
Nek1	T	C	8: 61,559,978 (GRCm39)	S937P	probably damaging	Het
Oas1b	T	A	5: 120,960,167 (GRCm39)		probably null	Het
Or4x6	T	C	2: 89,949,016 (GRCm39)	K309E	probably benign	Het
Or5l13	T	C	2: 87,779,753 (GRCm39)	T275A	probably benign	Het
Or8h8	C	T	2: 86,753,339 (GRCm39)	C179Y	possibly damaging	Het
Otogl	G	A	10: 107,722,841 (GRCm39)	P297S	probably damaging	Het
Plekhm1	A	G	11: 103,286,130 (GRCm39)	S102P	probably damaging	Het
Plvap	G	A	8: 71,960,415 (GRCm39)	R334W	probably damaging	Het
Polr2b	T	G	5: 77,474,561 (GRCm39)	V466G	probably damaging	Het
Ptpn13	T	C	5: 103,649,335 (GRCm39)	I246T	probably benign	Het
Rims2	A	T	15: 39,301,113 (GRCm39)	K281N	probably damaging	Het
Scamp4	T	C	10: 80,446,891 (GRCm39)	F108S	probably damaging	Het
Sntb2	C	A	8: 107,736,595 (GRCm39)	L490M	probably damaging	Het
Ssu2	A	G	6: 112,359,383 (GRCm39)	V79A	possibly damaging	Het
Stard7	A	G	2: 127,139,128 (GRCm39)	S347G	probably benign	Het
Usp5	C	G	6: 124,799,593 (GRCm39)	K318N	possibly damaging	Het
Vmn2r6	A	G	3: 64,445,145 (GRCm39)	V860A	probably benign	Het
Vmn2r60	A	G	7: 41,844,667 (GRCm39)	T677A	probably damaging	Het
Zfp318	T	A	17: 46,723,284 (GRCm39)	H1762Q	probably benign	Het
Zmynd8	TTGCTGCTGCTGCTGCTG	TTGCTGCTGCTGCTG	2: 165,649,527 (GRCm39)		probably benign	Het
Zng1	A	G	19: 24,935,328 (GRCm39)	Y59H	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
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
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'- TTCCCACCATAGCTTCATGG -3'
(R):5'- CAGCTTTCACCTAGGTTCATGC -3'

Sequencing Primer
(F):5'- CCATAGCTTCATGGTCATAAAACATG -3'
(R):5'- AGGTTCATGCCATATCTCAGC -3'

Posted On

2015-08-18