Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02200:Snrnp40'

284165

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Snrnp40

Ensembl Gene

ENSMUSG00000074088

Gene Name

small nuclear ribonucleoprotein 40 (U5)

Synonyms

0610009C03Rik, Wdr57

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02200

Quality Score

Status

Chromosome

Chromosomal Location

130360132-130390026 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 130360221 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 6 (K6E)

Ref Sequence

ENSEMBL: ENSMUSP00000101616 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105994] [ENSMUST00000134159]

AlphaFold

Q6PE01

Predicted Effect

probably damaging
Transcript: ENSMUST00000105994
AA Change: K6E

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000101616
Gene: ENSMUSG00000074088
AA Change: K6E

Domain	Start	End	E-Value	Type
low complexity region	24	45	N/A	INTRINSIC
WD40	56	95	1.64e-9	SMART
WD40	99	138	1.83e-7	SMART
WD40	141	181	8.68e-9	SMART
WD40	184	222	3.81e-5	SMART
WD40	225	264	3.24e-8	SMART
WD40	271	314	5.1e-6	SMART
WD40	317	356	2.84e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000134159

SMART Domains

Protein: ENSMUSP00000120807
Gene: ENSMUSG00000028772

Domain	Start	End	E-Value	Type
S1	14	86	4.47e-11	SMART
ZnF_C2HC	132	148	4.56e-1	SMART
low complexity region	160	171	N/A	INTRINSIC
low complexity region	182	211	N/A	INTRINSIC
low complexity region	227	240	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167964

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180577

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181161

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of the U5 small nuclear ribonucleoprotein (snRNP) particle. The U5 snRNP is part of the spliceosome, a multiprotein complex that catalyzes the removal of introns from pre-messenger RNAs. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	G	3: 122,069,014	E207G	probably benign	Het
Ahi1	T	C	10: 20,981,314		probably benign	Het
Ankrd26	A	T	6: 118,559,341	V97E	probably damaging	Het
Cadps2	T	C	6: 23,385,528	Y736C	probably damaging	Het
Cdon	T	C	9: 35,483,109	W884R	probably benign	Het
Cflar	A	G	1: 58,752,669	D380G	probably damaging	Het
Clca3a1	A	T	3: 144,751,929		probably benign	Het
Clca3b	A	G	3: 144,841,429	S316P	probably damaging	Het
Crispld1	T	C	1: 17,750,333		probably benign	Het
Diaph1	G	A	18: 37,890,682	P701L	unknown	Het
Dip2b	T	C	15: 100,151,202	L159P	possibly damaging	Het
Dock1	A	G	7: 134,744,271	T181A	probably benign	Het
Ear1	C	T	14: 43,819,252	R53H	probably benign	Het
Gm1840	A	G	8: 5,639,968		noncoding transcript	Het
Gm2663	A	G	6: 40,996,013	V220A	probably benign	Het
Grik1	A	G	16: 87,940,565	F614L	probably damaging	Het
Htr2a	T	A	14: 74,706,165	I395N	probably damaging	Het
Itsn2	A	G	12: 4,636,632	D528G	probably damaging	Het
Kdr	T	C	5: 75,950,102		probably benign	Het
M6pr	A	G	6: 122,315,068	M120V	probably benign	Het
Mettl13	G	A	1: 162,538,823		probably benign	Het
Mtfmt	A	G	9: 65,448,781		probably benign	Het
Nlrp4a	G	T	7: 26,449,278	K103N	possibly damaging	Het
Ogfrl1	C	T	1: 23,370,069	V359I	probably benign	Het
Olfr583	C	T	7: 103,051,793	T165I	probably benign	Het
Ovch2	T	C	7: 107,794,823	Y141C	probably damaging	Het
Pwwp2a	A	C	11: 43,706,128	I432L	possibly damaging	Het
Ryr3	C	T	2: 112,849,510	V1245M	probably damaging	Het
Sis	T	C	3: 72,943,604	H587R	probably damaging	Het
Snx13	A	T	12: 35,086,885	D115V	probably damaging	Het
Sohlh2	C	A	3: 55,190,556	T143K	probably damaging	Het
Spag4	T	C	2: 156,066,597	L55S	probably benign	Het
Tcrg-C2	T	C	13: 19,307,351		probably benign	Het
Vmn2r77	T	C	7: 86,801,979	S358P	probably benign	Het

Other mutations in Snrnp40

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02306:Snrnp40	APN	4	130365100	missense	probably benign	0.21
skywarp	UTSW	4	130378043	splice site	probably null
R0027:Snrnp40	UTSW	4	130368273	missense	probably damaging	1.00
R0027:Snrnp40	UTSW	4	130368273	missense	probably damaging	1.00
R0077:Snrnp40	UTSW	4	130378043	splice site	probably null
R0134:Snrnp40	UTSW	4	130378043	splice site	probably null
R0211:Snrnp40	UTSW	4	130378043	splice site	probably null
R0349:Snrnp40	UTSW	4	130378043	splice site	probably null
R0371:Snrnp40	UTSW	4	130378043	splice site	probably null
R0372:Snrnp40	UTSW	4	130378043	splice site	probably null
R0376:Snrnp40	UTSW	4	130378043	splice site	probably null
R0377:Snrnp40	UTSW	4	130378043	splice site	probably null
R0400:Snrnp40	UTSW	4	130362650	missense	probably damaging	1.00
R0442:Snrnp40	UTSW	4	130378043	splice site	probably null
R0443:Snrnp40	UTSW	4	130378043	splice site	probably null
R0486:Snrnp40	UTSW	4	130378043	splice site	probably null
R0488:Snrnp40	UTSW	4	130378043	splice site	probably null
R0568:Snrnp40	UTSW	4	130378043	splice site	probably null
R0624:Snrnp40	UTSW	4	130362658	missense	probably damaging	0.98
R0632:Snrnp40	UTSW	4	130378043	splice site	probably null
R0650:Snrnp40	UTSW	4	130378043	splice site	probably null
R0733:Snrnp40	UTSW	4	130378043	splice site	probably null
R1161:Snrnp40	UTSW	4	130378043	splice site	probably null
R1182:Snrnp40	UTSW	4	130378043	splice site	probably null
R1234:Snrnp40	UTSW	4	130378043	splice site	probably null
R1236:Snrnp40	UTSW	4	130378043	splice site	probably null
R1305:Snrnp40	UTSW	4	130378043	splice site	probably null
R1308:Snrnp40	UTSW	4	130378043	splice site	probably null
R1333:Snrnp40	UTSW	4	130378043	splice site	probably null
R1413:Snrnp40	UTSW	4	130378043	splice site	probably null
R1569:Snrnp40	UTSW	4	130378043	splice site	probably null
R1616:Snrnp40	UTSW	4	130378043	splice site	probably null
R1656:Snrnp40	UTSW	4	130378043	splice site	probably null
R1675:Snrnp40	UTSW	4	130378043	splice site	probably null
R1759:Snrnp40	UTSW	4	130378043	splice site	probably null
R1856:Snrnp40	UTSW	4	130378043	splice site	probably null
R1901:Snrnp40	UTSW	4	130385975	missense	probably damaging	0.98
R1912:Snrnp40	UTSW	4	130378043	splice site	probably null
R1930:Snrnp40	UTSW	4	130378043	splice site	probably null
R1931:Snrnp40	UTSW	4	130378043	splice site	probably null
R2435:Snrnp40	UTSW	4	130384551	missense	probably damaging	1.00
R3722:Snrnp40	UTSW	4	130368275	missense	possibly damaging	0.76
R4782:Snrnp40	UTSW	4	130362756	missense	probably damaging	1.00
R4799:Snrnp40	UTSW	4	130362756	missense	probably damaging	1.00
R5075:Snrnp40	UTSW	4	130388582	missense	probably benign	0.07
R5104:Snrnp40	UTSW	4	130365165	missense	possibly damaging	0.78
R5369:Snrnp40	UTSW	4	130362646	missense	probably damaging	0.97
R5699:Snrnp40	UTSW	4	130365165	missense	possibly damaging	0.78
R7529:Snrnp40	UTSW	4	130384482	missense	possibly damaging	0.94
R8264:Snrnp40	UTSW	4	130378074	missense	probably benign	0.00
R8412:Snrnp40	UTSW	4	130384523	missense	possibly damaging	0.49
R9319:Snrnp40	UTSW	4	130362752	missense	possibly damaging	0.68

Posted On

2015-04-16