Mutagenetix > Incidental Mutation

Incidental Mutation 'R5534:Snrpe'

434681

Institutional Source

Beutler Lab

Gene Symbol

Snrpe

Ensembl Gene

ENSMUSG00000090553

Gene Name

small nuclear ribonucleoprotein E

Synonyms

MMRRC Submission

043092-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.948) question?

Stock #

R5534 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

133531609-133538018 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 133534211 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 84 (F84Y)

Ref Sequence

ENSEMBL: ENSMUSP00000127164 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000164096] [ENSMUST00000164574] [ENSMUST00000166291] [ENSMUST00000166915] [ENSMUST00000171264] [ENSMUST00000172079]

AlphaFold

P62305

Predicted Effect

probably benign
Transcript: ENSMUST00000164096
AA Change: F84Y

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000127164
Gene: ENSMUSG00000090553
AA Change: F84Y

Domain	Start	End	E-Value	Type
low complexity region	5	16	N/A	INTRINSIC
Sm	23	83	9.42e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000164574

SMART Domains

Protein: ENSMUSP00000131061
Gene: ENSMUSG00000090553

Domain	Start	End	E-Value	Type
low complexity region	35	52	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000166291

SMART Domains

Protein: ENSMUSP00000132376
Gene: ENSMUSG00000090553

Domain	Start	End	E-Value	Type
PDB:4F7U\|H	1	48	7e-19	PDB
SCOP:d1b34b_	16	47	1e-3	SMART
Blast:Sm	23	48	3e-11	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000166915

SMART Domains

Protein: ENSMUSP00000128400
Gene: ENSMUSG00000090553

Domain	Start	End	E-Value	Type
low complexity region	5	16	N/A	INTRINSIC
Sm	23	89	9.84e-20	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000171264

Predicted Effect

probably benign
Transcript: ENSMUST00000172079

SMART Domains

Protein: ENSMUSP00000133244
Gene: ENSMUSG00000090553

Domain	Start	End	E-Value	Type
low complexity region	35	52	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180718

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 94.9%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice heterozygous for an ENU-induced mutation display severely decreased testis weight and reduced spermatogenesis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam18	T	A	8: 25,155,530 (GRCm39)	D163V	probably benign	Het
Ank2	A	T	3: 126,740,947 (GRCm39)		probably benign	Het
Ankmy1	T	C	1: 92,814,442 (GRCm39)	E355G	probably damaging	Het
Ankmy2	A	G	12: 36,232,491 (GRCm39)	N172S	probably damaging	Het
Ankrd50	A	G	3: 38,510,231 (GRCm39)	M712T	probably damaging	Het
Apcdd1	T	C	18: 63,070,105 (GRCm39)	I124T	probably benign	Het
Carmil3	A	G	14: 55,732,347 (GRCm39)	K256R	probably damaging	Het
Cass4	G	T	2: 172,268,688 (GRCm39)	V259L	probably benign	Het
Ccdc141	A	G	2: 76,888,241 (GRCm39)	V508A	probably benign	Het
Ccdc33	A	G	9: 58,024,450 (GRCm39)	S226P	possibly damaging	Het
Cep72	T	C	13: 74,210,335 (GRCm39)	E9G	probably benign	Het
Clca4b	A	T	3: 144,621,227 (GRCm39)	Y616N	probably damaging	Het
Cnot4	A	G	6: 35,054,939 (GRCm39)	S117P	possibly damaging	Het
Col11a2	C	T	17: 34,269,998 (GRCm39)	A429V	probably damaging	Het
Col4a4	T	C	1: 82,465,238 (GRCm39)	E979G	unknown	Het
Coq10b	T	C	1: 55,103,359 (GRCm39)	Y46H	possibly damaging	Het
Cplane1	C	A	15: 8,258,319 (GRCm39)	F2188L	probably benign	Het
Dnah17	T	C	11: 117,943,596 (GRCm39)	T3169A	possibly damaging	Het
Dock6	G	A	9: 21,714,372 (GRCm39)	R1824*	probably null	Het
Dsp	A	C	13: 38,379,818 (GRCm39)	I1589L	probably benign	Het
Edil3	A	G	13: 89,347,593 (GRCm39)	T383A	probably benign	Het
Efemp1	T	C	11: 28,817,758 (GRCm39)	V79A	probably damaging	Het
Esyt1	C	T	10: 128,355,329 (GRCm39)	V471I	probably benign	Het
Fbxo30	T	C	10: 11,165,409 (GRCm39)	S44P	possibly damaging	Het
Fdx2	G	T	9: 20,984,562 (GRCm39)	D57E	probably benign	Het
Gbp11	A	T	5: 105,478,904 (GRCm39)	V178D	probably damaging	Het
Gna11	A	T	10: 81,366,967 (GRCm39)	I283N	probably damaging	Het
Grid2	A	T	6: 63,480,345 (GRCm39)	Q53L	probably benign	Het
Jmjd6	A	G	11: 116,731,252 (GRCm39)	S266P	probably damaging	Het
Kirrel1	G	A	3: 86,997,825 (GRCm39)	R233C	probably damaging	Het
Kmt2d	A	G	15: 98,735,238 (GRCm39)		probably benign	Het
Lama3	A	T	18: 12,686,267 (GRCm39)	T1171S	probably benign	Het
Ltbr	G	A	6: 125,289,757 (GRCm39)	R146W	probably damaging	Het
Med13	A	T	11: 86,210,191 (GRCm39)	S650R	probably benign	Het
Meltf	T	A	16: 31,709,632 (GRCm39)		probably null	Het
Mgat1	T	C	11: 49,151,976 (GRCm39)	V153A	probably benign	Het
Mmp16	A	T	4: 18,110,452 (GRCm39)	D416V	probably damaging	Het
Myh3	A	T	11: 66,987,870 (GRCm39)	R1448W	probably damaging	Het
Nedd1	A	T	10: 92,530,894 (GRCm39)	F398L	probably benign	Het
Or2a14	A	G	6: 43,130,567 (GRCm39)	I109M	probably benign	Het
Or4k45	T	C	2: 111,395,349 (GRCm39)	T147A	probably benign	Het
Or5ac17	T	C	16: 59,036,403 (GRCm39)	D191G	probably benign	Het
Or5g9	T	C	2: 85,552,331 (GRCm39)	I194T	probably benign	Het
Otud3	A	G	4: 138,624,894 (GRCm39)	L269P	probably damaging	Het
Otx1	A	G	11: 21,946,296 (GRCm39)		probably benign	Het
Pcdhga7	A	C	18: 37,849,331 (GRCm39)	D446A	probably damaging	Het
Pcnx2	T	G	8: 126,564,754 (GRCm39)	K1046N	possibly damaging	Het
Pfkp	C	A	13: 6,698,619 (GRCm39)	G33W	probably damaging	Het
Poglut2	C	T	1: 44,151,837 (GRCm39)	V351M	probably damaging	Het
Pold1	A	G	7: 44,188,043 (GRCm39)	I585T	probably damaging	Het
Pole4	A	G	6: 82,629,115 (GRCm39)	Y84H	possibly damaging	Het
Pramel26	G	T	4: 143,539,169 (GRCm39)	S108*	probably null	Het
Ptpn23	A	G	9: 110,221,809 (GRCm39)	S126P	possibly damaging	Het
R3hdm4	C	T	10: 79,748,292 (GRCm39)	E162K	possibly damaging	Het
Rin3	T	C	12: 102,353,891 (GRCm39)	L766P	probably damaging	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rras2	G	A	7: 113,649,650 (GRCm39)	T138I	possibly damaging	Het
Scrn2	A	G	11: 96,921,751 (GRCm39)	I74V	probably benign	Het
Sema6d	T	C	2: 124,501,735 (GRCm39)	I526T	possibly damaging	Het
Shd	G	T	17: 56,278,577 (GRCm39)	E47*	probably null	Het
Slc22a27	T	C	19: 7,903,996 (GRCm39)	H47R	probably damaging	Het
Slc36a3	C	G	11: 55,033,595 (GRCm39)	W141S	possibly damaging	Het
Slc9c1	T	A	16: 45,376,977 (GRCm39)	V429E	probably benign	Het
Smg8	A	T	11: 86,976,296 (GRCm39)	D428E	probably benign	Het
Tbc1d2b	C	T	9: 90,109,559 (GRCm39)	D306N	possibly damaging	Het
Trav9n-4	A	G	14: 53,532,356 (GRCm39)	Y70C	probably damaging	Het
Tut7	A	G	13: 59,936,367 (GRCm39)	F843L	probably damaging	Het
Ush1c	A	G	7: 45,870,847 (GRCm39)	I330T	probably damaging	Het
Wnt11	T	C	7: 98,488,349 (GRCm39)	L12P	probably damaging	Het
Zan	A	G	5: 137,436,713 (GRCm39)	S2047P	unknown	Het
Zfp763	A	C	17: 33,240,768 (GRCm39)	S20R	probably damaging	Het

Other mutations in Snrpe

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02086:Snrpe	APN	1	133,537,487 (GRCm39)	intron	probably benign
IGL02565:Snrpe	APN	1	133,536,704 (GRCm39)	splice site	probably benign
IGL02942:Snrpe	APN	1	133,536,669 (GRCm39)	missense	probably damaging	0.99
R5273:Snrpe	UTSW	1	133,537,518 (GRCm39)	intron	probably benign
R5849:Snrpe	UTSW	1	133,536,652 (GRCm39)	missense	probably benign	0.01
R8338:Snrpe	UTSW	1	133,536,681 (GRCm39)	missense	probably benign	0.28
R8920:Snrpe	UTSW	1	133,534,199 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CATCAGATTTAACATCCTTGGCAA -3'
(R):5'- AGTAAGTAGAGGCTGTAGGTGT -3'

Sequencing Primer
(F):5'- AGGCCAGGAGTTCAATCTGTCAC -3'
(R):5'- GTTTGTGTTGAAAAATCAGTGATAGC -3'

Posted On

2016-10-24