Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01308:Snrnp25'

73557

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Snrnp25

Ensembl Gene

ENSMUSG00000040767

Gene Name

small nuclear ribonucleoprotein 25 (U11/U12)

Synonyms

3300001G02Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.851) question?

Stock #

IGL01308

Quality Score

Status

Chromosome

Chromosomal Location

32155415-32158984 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 32158745 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000119306 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020524] [ENSMUST00000039601] [ENSMUST00000121182] [ENSMUST00000143988] [ENSMUST00000146179] [ENSMUST00000149043]

AlphaFold

Q8VIK1

Predicted Effect

probably benign
Transcript: ENSMUST00000020524

SMART Domains

Protein: ENSMUSP00000020524
Gene: ENSMUSG00000020282

Domain	Start	End	E-Value	Type
low complexity region	25	35	N/A	INTRINSIC
Pfam:Rhomboid_SP	91	308	1.6e-116	PFAM
Pfam:Rhomboid	648	792	2.1e-32	PFAM
transmembrane domain	805	827	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000039601

SMART Domains

Protein: ENSMUSP00000046654
Gene: ENSMUSG00000040767

Domain	Start	End	E-Value	Type
PDB:1V2Y\|A	31	123	4e-63	PDB
Blast:UBQ	32	119	1e-30	BLAST
SCOP:d1euvb_	32	121	3e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000121182

SMART Domains

Protein: ENSMUSP00000112483
Gene: ENSMUSG00000040767

Domain	Start	End	E-Value	Type
PDB:1V2Y\|A	31	83	4e-28	PDB
Blast:UBQ	32	83	2e-11	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125837

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137125

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142274

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143036

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155736

Predicted Effect

probably benign
Transcript: ENSMUST00000143988

SMART Domains

Protein: ENSMUSP00000117471
Gene: ENSMUSG00000020282

Domain	Start	End	E-Value	Type
Pfam:Rhomboid	52	167	1.6e-24	PFAM
transmembrane domain	181	203	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000146179

SMART Domains

Protein: ENSMUSP00000118985
Gene: ENSMUSG00000020282

Domain	Start	End	E-Value	Type
low complexity region	25	35	N/A	INTRINSIC
Pfam:Rhomboid_SP	91	155	7.1e-31	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000149043

SMART Domains

Protein: ENSMUSP00000119306
Gene: ENSMUSG00000040767

Domain	Start	End	E-Value	Type
PDB:1V2Y\|A	31	96	1e-40	PDB
Blast:UBQ	32	96	3e-15	BLAST

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Two types of spliceosomes catalyze splicing of pre-mRNAs. The major U2-type spliceosome is found in all eukaryotes and removes U2-type introns, which represent more than 99% of pre-mRNA introns. The minor U12-type spliceosome is found in some eukaryotes and removes U12-type introns, which are rare and have distinct splice consensus signals. The U12-type spliceosome consists of several small nuclear RNAs and associated proteins. This gene encodes a 25K protein that is a component of the U12-type spliceosome. [provided by RefSeq, Apr 2010]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	A	G	7: 78,748,997 (GRCm39)	D1256G	probably damaging	Het
Acot7	A	T	4: 152,345,353 (GRCm39)	M308L	probably benign	Het
Adarb2	A	G	13: 8,253,329 (GRCm39)	R25G	possibly damaging	Het
Ano1	C	A	7: 144,149,235 (GRCm39)	Q875H	probably damaging	Het
Ano6	G	A	15: 95,811,542 (GRCm39)		probably null	Het
Defa40	C	T	8: 21,740,434 (GRCm39)	T80I	probably damaging	Het
Efcab3	A	T	11: 104,611,523 (GRCm39)	D455V	probably benign	Het
Ehbp1	G	A	11: 22,088,022 (GRCm39)	P354L	probably damaging	Het
Eml5	T	C	12: 98,768,572 (GRCm39)	H1454R	probably damaging	Het
Esyt1	T	A	10: 128,355,660 (GRCm39)	N421Y	possibly damaging	Het
Gen1	T	C	12: 11,306,871 (GRCm39)	T100A	probably damaging	Het
Jak3	A	T	8: 72,137,810 (GRCm39)	D780V	probably damaging	Het
Klrb1a	A	G	6: 128,595,008 (GRCm39)		probably benign	Het
Lrp8	A	G	4: 107,721,273 (GRCm39)	I826M	probably benign	Het
Mcmbp	G	A	7: 128,316,209 (GRCm39)	Q214*	probably null	Het
Mtmr7	A	T	8: 41,050,388 (GRCm39)	Y136N	probably damaging	Het
Ndor1	A	G	2: 25,140,151 (GRCm39)	Y88H	probably benign	Het
Nkx2-4	A	G	2: 146,926,260 (GRCm39)	Y201H	possibly damaging	Het
Or3a1d	A	G	11: 74,237,486 (GRCm39)	L308P	probably damaging	Het
Or52n4b	T	A	7: 108,143,933 (GRCm39)	L65*	probably null	Het
Or6c5	A	T	10: 129,074,476 (GRCm39)	T153S	probably benign	Het
Pigg	T	C	5: 108,484,343 (GRCm39)	L663P	probably damaging	Het
Pik3cd	A	G	4: 149,741,917 (GRCm39)	V343A	probably damaging	Het
Plekha4	A	G	7: 45,187,659 (GRCm39)	S244G	probably damaging	Het
Prkce	T	A	17: 86,932,890 (GRCm39)	D623E	probably damaging	Het
Rasgrf2	A	G	13: 92,159,425 (GRCm39)		probably benign	Het
Rexo5	T	C	7: 119,433,499 (GRCm39)	W419R	probably damaging	Het
Rnaseh2b	A	G	14: 62,602,706 (GRCm39)		probably null	Het
Rras	A	G	7: 44,670,709 (GRCm39)	Y193C	possibly damaging	Het
Sall4	T	C	2: 168,592,164 (GRCm39)	I997V	probably damaging	Het
Sec31b	A	G	19: 44,512,122 (GRCm39)	F591L	probably benign	Het
Skic2	A	G	17: 35,059,610 (GRCm39)	L232P	probably benign	Het
Slc13a3	A	T	2: 165,248,700 (GRCm39)	I526N	probably damaging	Het
Slc6a11	C	T	6: 114,111,626 (GRCm39)	T103M	probably damaging	Het
Tex264	T	C	9: 106,539,607 (GRCm39)	K201E	possibly damaging	Het
Tgfb1	G	T	7: 25,387,442 (GRCm39)	R50L	probably damaging	Het
Tle4	A	G	19: 14,445,625 (GRCm39)	V207A	probably benign	Het
Tmed1	A	T	9: 21,421,338 (GRCm39)	C45*	probably null	Het
Tmem260	A	G	14: 48,749,415 (GRCm39)	N638S	probably damaging	Het
Traf3ip3	T	C	1: 192,867,199 (GRCm39)	E274G	probably damaging	Het
Trak1	T	C	9: 121,272,802 (GRCm39)		probably null	Het
Trim3	A	T	7: 105,266,676 (GRCm39)	V502E	probably damaging	Het
Trmo	C	T	4: 46,377,053 (GRCm39)		probably benign	Het
Xab2	C	T	8: 3,666,332 (GRCm39)	R192Q	probably benign	Het

Other mutations in Snrnp25

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0883:Snrnp25	UTSW	11	32,156,960 (GRCm39)	missense	probably damaging	0.99
R1816:Snrnp25	UTSW	11	32,157,565 (GRCm39)	missense	probably damaging	0.99
R4966:Snrnp25	UTSW	11	32,157,595 (GRCm39)	missense	probably damaging	1.00
R6164:Snrnp25	UTSW	11	32,157,647 (GRCm39)	missense	probably benign	0.28
R7994:Snrnp25	UTSW	11	32,157,569 (GRCm39)	missense	probably benign	0.01
R9346:Snrnp25	UTSW	11	32,155,622 (GRCm39)	start codon destroyed	probably benign

Posted On

2013-10-07