Mutagenetix > Incidental Mutation

Incidental Mutation 'R5082:Snrnp200'

387171

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

042671-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5082 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

127050306-127082371 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 127068290 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 877 (Q877*)

Ref Sequence

ENSEMBL: ENSMUSP00000099509 (fasta)

Gene Model

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

AlphaFold

Q6P4T2

Predicted Effect

probably null
Transcript: ENSMUST00000103220
AA Change: Q877*

SMART Domains

Protein: ENSMUSP00000099509
Gene: ENSMUSG00000003660
AA Change: Q877*

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142327

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 96.9%
20x: 94.3%

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	T	A	11: 110,022,694 (GRCm39)	M1015L	probably benign	Het
Aftph	T	C	11: 20,677,100 (GRCm39)	S170G	probably damaging	Het
Aox4	C	T	1: 58,270,642 (GRCm39)	P274S	possibly damaging	Het
Ash1l	G	A	3: 88,873,541 (GRCm39)	R108Q	probably damaging	Het
Aspm	T	A	1: 139,406,414 (GRCm39)	L1767*	probably null	Het
Baz2b	T	A	2: 59,731,835 (GRCm39)	K2068*	probably null	Het
Bcl9	A	T	3: 97,117,218 (GRCm39)	V492D	probably damaging	Het
Bicc1	G	T	10: 70,776,352 (GRCm39)	H782Q	probably benign	Het
Cabin1	T	A	10: 75,574,164 (GRCm39)	I640F	probably damaging	Het
Ccng1	A	G	11: 40,643,015 (GRCm39)	V144A	possibly damaging	Het
Cdc23	C	A	18: 34,784,742 (GRCm39)	V7L	unknown	Het
Ddx1	G	T	12: 13,270,436 (GRCm39)	C668*	probably null	Het
Dhx58	G	A	11: 100,587,802 (GRCm39)	S585L	probably benign	Het
Dnttip2	A	T	3: 122,069,590 (GRCm39)	K268N	probably damaging	Het
Ecd	C	T	14: 20,374,436 (GRCm39)		probably null	Het
Entpd1	A	G	19: 40,713,473 (GRCm39)		probably null	Het
Erlin2	T	C	8: 27,523,435 (GRCm39)	V224A	probably damaging	Het
Exoc3l4	A	G	12: 111,394,424 (GRCm39)	S515G	probably benign	Het
Fcho1	T	C	8: 72,169,829 (GRCm39)	D98G	possibly damaging	Het
Fhod1	T	A	8: 106,057,145 (GRCm39)	D943V	probably damaging	Het
Gm10322	A	T	10: 59,452,090 (GRCm39)	E69V	possibly damaging	Het
Gm14295	T	A	2: 176,499,210 (GRCm39)	L19*	probably null	Het
Gm7347	T	A	5: 26,262,372 (GRCm39)	R50*	probably null	Het
Hesx1	T	C	14: 26,722,731 (GRCm39)	C19R	probably benign	Het
Hgh1	T	A	15: 76,253,752 (GRCm39)	F199L	probably benign	Het
Irak2	T	C	6: 113,649,805 (GRCm39)	F147L	probably damaging	Het
Kif22	G	A	7: 126,632,549 (GRCm39)	R254C	possibly damaging	Het
Klhl9	A	T	4: 88,639,622 (GRCm39)	S206R	probably damaging	Het
Maip1	T	C	1: 57,451,010 (GRCm39)		probably null	Het
Mcm9	T	A	10: 53,414,156 (GRCm39)	E308V	possibly damaging	Het
Mfsd13b	A	T	7: 120,598,201 (GRCm39)	N369I	possibly damaging	Het
Mga	T	A	2: 119,733,825 (GRCm39)	H224Q	probably damaging	Het
Mtss1	A	T	15: 58,842,868 (GRCm39)	W115R	probably damaging	Het
Myo3b	T	C	2: 70,088,374 (GRCm39)	V851A	probably benign	Het
Nectin2	A	T	7: 19,472,049 (GRCm39)	D113E	probably damaging	Het
Notch2	G	A	3: 98,007,690 (GRCm39)	C480Y	probably damaging	Het
Or6b6	G	A	7: 106,570,871 (GRCm39)	R227C	probably benign	Het
Or8b55	T	C	9: 38,727,441 (GRCm39)	I214T	possibly damaging	Het
Pfdn1	G	T	18: 36,537,466 (GRCm39)	N111K	probably damaging	Het
Pfkl	A	T	10: 77,832,242 (GRCm39)	V283E	probably damaging	Het
Plbd2	G	T	5: 120,629,249 (GRCm39)	S305*	probably null	Het
Prom1	T	C	5: 44,158,174 (GRCm39)		probably null	Het
Ptbp2	T	A	3: 119,546,613 (GRCm39)	M90L	probably benign	Het
Rai1	G	A	11: 60,076,745 (GRCm39)	E270K	possibly damaging	Het
Rbbp6	G	A	7: 122,599,925 (GRCm39)		probably benign	Het
Reln	T	C	5: 22,101,075 (GRCm39)	M3399V	probably benign	Het
Ros1	T	A	10: 52,040,037 (GRCm39)	Y318F	possibly damaging	Het
Sh2d2a	A	G	3: 87,759,091 (GRCm39)	D231G	probably benign	Het
Smn1	T	C	13: 100,273,890 (GRCm39)		probably benign	Het
Taf2	G	T	15: 54,923,441 (GRCm39)	H279N	probably benign	Het
Tnfaip3	T	C	10: 18,881,032 (GRCm39)	Y345C	probably damaging	Het
Vmn2r68	C	T	7: 84,883,076 (GRCm39)	M225I	probably benign	Het
Vps13a	A	T	19: 16,722,257 (GRCm39)	W352R	probably 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
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
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'- TCCAAGGATGCTGCAAAGATG -3'
(R):5'- AAGCTTGAGACACTGCTGGAC -3'

Sequencing Primer
(F):5'- TGGCAGATCAAGACCAAGTTC -3'
(R):5'- CCTCACAGGAGTTATGTCACTCTAAG -3'

Posted On

2016-06-06