Mutagenetix > Incidental Mutation

Incidental Mutation 'R5195:Snrnp70'

400099

Institutional Source

Beutler Lab

Gene Symbol

Snrnp70

Ensembl Gene

ENSMUSG00000063511

Gene Name

small nuclear ribonucleoprotein 70 (U1)

Synonyms

Rnulp70, Snrp70, Srnp70, U1-70, 3200002N22Rik, 2700022N21Rik

MMRRC Submission

042771-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.960) question?

Stock #

R5195 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

45025877-45045166 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 45044134 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 32 (K32N)

Ref Sequence

ENSEMBL: ENSMUSP00000147636 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074575] [ENSMUST00000209858] [ENSMUST00000211121] [ENSMUST00000211378]

AlphaFold

Q62376

Predicted Effect

probably damaging
Transcript: ENSMUST00000074575
AA Change: K32N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000074160
Gene: ENSMUSG00000063511
AA Change: K32N

Domain	Start	End	E-Value	Type
Pfam:U1snRNP70_N	2	94	4e-31	PFAM
RRM	104	177	1.62e-23	SMART
low complexity region	186	203	N/A	INTRINSIC
coiled coil region	286	309	N/A	INTRINSIC
low complexity region	331	409	N/A	INTRINSIC
PDB:3PGW\|L	410	448	4e-14	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209237

Predicted Effect

probably damaging
Transcript: ENSMUST00000209858
AA Change: K32N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000209993

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210495

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210583

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210808

Predicted Effect

probably damaging
Transcript: ENSMUST00000211121
AA Change: K32N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000211378
AA Change: K32N

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211366

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210970

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211290

Meta Mutation Damage Score

0.1118

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

97% (72/74)

MGI Phenotype

FUNCTION: This gene encodes a subunit of the U1 snRNP (small nuclear ribonucleic particle), one of at least five snRNPs to comprise the spliceosome, which functions in processing of pre-mRNAs. The U1 snRNP has been shown to be important in defining the 5' splice site. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apoo-ps	T	C	13: 107,551,053 (GRCm39)		noncoding transcript	Het
Arhgef40	T	A	14: 52,227,269 (GRCm39)	S438T	possibly damaging	Het
Barhl2	A	G	5: 106,601,305 (GRCm39)	L358P	possibly damaging	Het
Bicra	G	A	7: 15,713,878 (GRCm39)	P775S	possibly damaging	Het
Ccdc78	T	A	17: 26,008,962 (GRCm39)		probably null	Het
Ccnb1-ps	T	A	7: 41,755,522 (GRCm39)		noncoding transcript	Het
Cct6a	A	T	5: 129,871,718 (GRCm39)		noncoding transcript	Het
Cep120	T	A	18: 53,854,770 (GRCm39)	H455L	probably damaging	Het
Cobl	C	T	11: 12,203,565 (GRCm39)	V964I	probably benign	Het
Cpt1a	A	T	19: 3,433,800 (GRCm39)	I761F	possibly damaging	Het
Crk	T	A	11: 75,570,289 (GRCm39)	Y14N	probably damaging	Het
Deup1	A	T	9: 15,486,487 (GRCm39)	Y398N	possibly damaging	Het
Efcab15	T	C	11: 103,089,794 (GRCm39)	Y381C	probably damaging	Het
Epha3	C	T	16: 63,366,510 (GRCm39)	G980D	possibly damaging	Het
Fanca	A	G	8: 124,030,684 (GRCm39)		probably benign	Het
Gbp4	T	A	5: 105,267,398 (GRCm39)	D507V	probably benign	Het
Gtf2i	A	T	5: 134,273,686 (GRCm39)	L740*	probably null	Het
Hmgn2	C	A	4: 133,694,597 (GRCm39)	A8S	probably benign	Het
Hook2	A	T	8: 85,721,405 (GRCm39)	N252I	probably damaging	Het
Igkv19-93	T	A	6: 68,713,510 (GRCm39)	T39S	probably damaging	Het
Inpp5j	A	C	11: 3,449,889 (GRCm39)		probably null	Het
Insyn2a	A	T	7: 134,486,145 (GRCm39)	F469I	probably damaging	Het
Kbtbd3	G	C	9: 4,316,905 (GRCm39)	E19Q	possibly damaging	Het
Kcns2	G	A	15: 34,839,677 (GRCm39)	A347T	possibly damaging	Het
Klhl31	A	G	9: 77,557,572 (GRCm39)	E96G	possibly damaging	Het
Kptn	A	G	7: 15,857,028 (GRCm39)	Y172C	probably damaging	Het
Krt86	T	A	15: 101,374,814 (GRCm39)	M328K	probably benign	Het
Lama1	A	G	17: 68,071,795 (GRCm39)	D894G	probably benign	Het
Lars2	T	C	9: 123,282,375 (GRCm39)	V653A	probably damaging	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Lhcgr	A	T	17: 89,050,374 (GRCm39)	V384D	probably damaging	Het
Malrd1	C	T	2: 16,155,621 (GRCm39)	T2010M	unknown	Het
Maml2	T	A	9: 13,532,410 (GRCm39)	N541K	probably damaging	Het
Med24	T	C	11: 98,601,107 (GRCm39)	K585R	possibly damaging	Het
Muc20	G	A	16: 32,614,846 (GRCm39)	S177L	unknown	Het
Mylk	T	A	16: 34,799,585 (GRCm39)	F1658L	probably damaging	Het
Obscn	C	T	11: 58,951,676 (GRCm39)	V4392I	possibly damaging	Het
Or10d5	A	G	9: 39,861,975 (GRCm39)	S31P	probably benign	Het
Or11g2	T	C	14: 50,856,243 (GRCm39)	L188P	probably damaging	Het
Pcnx2	A	T	8: 126,528,288 (GRCm39)	F1311I	possibly damaging	Het
Pcsk1	T	C	13: 75,274,974 (GRCm39)	L521P	probably damaging	Het
Pde4a	A	G	9: 21,115,629 (GRCm39)	T445A	possibly damaging	Het
Pgam5	A	T	5: 110,413,854 (GRCm39)	L103*	probably null	Het
Pkd2	G	A	5: 104,634,547 (GRCm39)	R526Q	probably benign	Het
Polr2a	T	C	11: 69,634,905 (GRCm39)	Y618C	probably damaging	Het
Pramel16	T	A	4: 143,677,450 (GRCm39)	E43V	probably damaging	Het
Pramel5	T	A	4: 143,998,311 (GRCm39)	M311L	probably benign	Het
Rbbp8	T	C	18: 11,855,208 (GRCm39)	F478L	probably benign	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Ryk	T	C	9: 102,744,812 (GRCm39)	V122A	probably benign	Het
Sik3	G	T	9: 46,120,142 (GRCm39)		probably null	Het
Slc22a30	G	A	19: 8,321,757 (GRCm39)	Q436*	probably null	Het
Slc35e4	T	A	11: 3,862,872 (GRCm39)	I106F	possibly damaging	Het
Slc41a3	T	C	6: 90,610,653 (GRCm39)	S172P	probably damaging	Het
Spag17	T	C	3: 100,008,704 (GRCm39)	Y1945H	probably benign	Het
St7	A	G	6: 17,743,636 (GRCm39)		probably benign	Het
Stab1	C	A	14: 30,862,478 (GRCm39)		probably benign	Het
Taf13	G	A	3: 108,488,390 (GRCm39)	R91Q	probably damaging	Het
Tmem200a	T	C	10: 25,954,854 (GRCm39)		probably benign	Het
Tnc	A	T	4: 63,885,489 (GRCm39)	L1871Q	probably damaging	Het
Toe1	T	C	4: 116,661,852 (GRCm39)	H439R	probably damaging	Het
Trpm1	T	C	7: 63,887,441 (GRCm39)	V893A	possibly damaging	Het
Ubr3	G	A	2: 69,786,378 (GRCm39)	A831T	probably benign	Het
Wdr89	C	T	12: 75,680,062 (GRCm39)	R64Q	probably benign	Het
Zbed5	G	T	5: 129,931,019 (GRCm39)	V323F	probably benign	Het
Zeb2	T	C	2: 44,891,647 (GRCm39)	R287G	probably damaging	Het

Other mutations in Snrnp70

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00160:Snrnp70	APN	7	45,026,778 (GRCm39)	critical splice donor site	probably null
IGL01092:Snrnp70	APN	7	45,026,801 (GRCm39)	missense	probably damaging	0.98
IGL01444:Snrnp70	APN	7	45,036,660 (GRCm39)	splice site	probably null
IGL03110:Snrnp70	APN	7	45,026,283 (GRCm39)	intron	probably benign
R0691:Snrnp70	UTSW	7	45,036,669 (GRCm39)	missense	possibly damaging	0.60
R1371:Snrnp70	UTSW	7	45,030,129 (GRCm39)	unclassified	probably benign
R1854:Snrnp70	UTSW	7	45,026,644 (GRCm39)	nonsense	probably null
R1880:Snrnp70	UTSW	7	45,026,786 (GRCm39)	splice site	probably null
R2050:Snrnp70	UTSW	7	45,036,724 (GRCm39)	nonsense	probably null
R4928:Snrnp70	UTSW	7	45,026,705 (GRCm39)	splice site	probably null
R5314:Snrnp70	UTSW	7	45,026,476 (GRCm39)	nonsense	probably null
R5326:Snrnp70	UTSW	7	45,026,657 (GRCm39)	intron	probably benign
R5522:Snrnp70	UTSW	7	45,026,601 (GRCm39)	intron	probably benign
R6182:Snrnp70	UTSW	7	45,026,497 (GRCm39)	nonsense	probably null
R6739:Snrnp70	UTSW	7	45,036,843 (GRCm39)	missense	probably damaging	1.00
R7607:Snrnp70	UTSW	7	45,041,688 (GRCm39)	missense	possibly damaging	0.82
R7789:Snrnp70	UTSW	7	45,026,045 (GRCm39)	nonsense	probably null
R7840:Snrnp70	UTSW	7	45,026,214 (GRCm39)	missense	unknown
R9519:Snrnp70	UTSW	7	45,036,875 (GRCm39)	missense	probably benign	0.29

Predicted Primers

PCR Primer
(F):5'- CTCCGACATTCACAGATTTGC -3'
(R):5'- GCAGCATCCGTCTCCAAATC -3'

Sequencing Primer
(F):5'- TCCGACATTCACAGATTTGCACATAC -3'
(R):5'- CAAATCTCACACCTGTTTGTTTG -3'

Posted On

2016-07-06