Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01623:Snrpa'

278691

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Snrpa

Ensembl Gene

ENSMUSG00000061479

Gene Name

small nuclear ribonucleoprotein polypeptide A

Synonyms

Rnu1a1, C430021M15Rik, U1A, U1 snRNP

Accession Numbers

Essential gene?

Probably essential (E-score: 0.960) question?

Stock #

IGL01623

Quality Score

Status

Chromosome

Chromosomal Location

26886431-26895696 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 26892395 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 55 (M55K)

Ref Sequence

ENSEMBL: ENSMUSP00000131897 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080356] [ENSMUST00000108379] [ENSMUST00000122202] [ENSMUST00000126211] [ENSMUST00000141378] [ENSMUST00000163311] [ENSMUST00000179391]

AlphaFold

Q62189

Predicted Effect

probably benign
Transcript: ENSMUST00000080356
AA Change: M55K

PolyPhen 2 Score 0.181 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000079228
Gene: ENSMUSG00000061479
AA Change: M55K

Domain	Start	End	E-Value	Type
RRM	17	91	2.3e-14	SMART
low complexity region	109	120	N/A	INTRINSIC
low complexity region	125	156	N/A	INTRINSIC
low complexity region	162	206	N/A	INTRINSIC
RRM	214	283	6.31e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108379

SMART Domains

Protein: ENSMUSP00000104016
Gene: ENSMUSG00000078786

Domain	Start	End	E-Value	Type
low complexity region	26	42	N/A	INTRINSIC
low complexity region	50	80	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000122202
AA Change: M55K

PolyPhen 2 Score 0.181 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000113678
Gene: ENSMUSG00000061479
AA Change: M55K

Domain	Start	End	E-Value	Type
RRM	17	91	2.3e-14	SMART
low complexity region	109	120	N/A	INTRINSIC
low complexity region	125	156	N/A	INTRINSIC
low complexity region	162	206	N/A	INTRINSIC
RRM	214	283	6.31e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000126211
AA Change: M55K

PolyPhen 2 Score 0.181 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000115335
Gene: ENSMUSG00000061479
AA Change: M55K

Domain	Start	End	E-Value	Type
RRM	17	91	2.3e-14	SMART
low complexity region	109	120	N/A	INTRINSIC
low complexity region	125	156	N/A	INTRINSIC
low complexity region	162	206	N/A	INTRINSIC
Pfam:RRM_1	215	247	3.8e-6	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000141378

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148491

Predicted Effect

probably benign
Transcript: ENSMUST00000155931

SMART Domains

Protein: ENSMUSP00000123290
Gene: ENSMUSG00000078786

Domain	Start	End	E-Value	Type
low complexity region	14	44	N/A	INTRINSIC
low complexity region	253	264	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000163311
AA Change: M55K

PolyPhen 2 Score 0.181 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000131897
Gene: ENSMUSG00000061479
AA Change: M55K

Domain	Start	End	E-Value	Type
RRM	17	91	2.3e-14	SMART
low complexity region	109	120	N/A	INTRINSIC
low complexity region	125	156	N/A	INTRINSIC
low complexity region	162	206	N/A	INTRINSIC
RRM	214	283	6.31e-12	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206439

Predicted Effect

probably benign
Transcript: ENSMUST00000179391

SMART Domains

Protein: ENSMUSP00000137189
Gene: ENSMUSG00000078786

Domain	Start	End	E-Value	Type
low complexity region	26	42	N/A	INTRINSIC
low complexity region	50	80	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930596D02Rik	G	A	14: 35,532,024 (GRCm39)	Q184*	probably null	Het
A1bg	A	C	15: 60,789,742 (GRCm39)	I502S	possibly damaging	Het
Actl11	T	C	9: 107,805,775 (GRCm39)	S33P	probably benign	Het
Aftph	G	T	11: 20,659,632 (GRCm39)	D730E	probably damaging	Het
Arhgap29	A	G	3: 121,767,773 (GRCm39)		probably benign	Het
Brf1	T	G	12: 112,924,795 (GRCm39)	E643A	probably benign	Het
Caskin1	G	T	17: 24,722,914 (GRCm39)		probably null	Het
Ccnjl	T	C	11: 43,476,154 (GRCm39)	V259A	probably benign	Het
Ccser2	G	T	14: 36,662,920 (GRCm39)	T88K	probably benign	Het
Cdk17	T	C	10: 93,074,824 (GRCm39)		probably benign	Het
Clec16a	G	A	16: 10,395,774 (GRCm39)	S309N	possibly damaging	Het
Cpxm1	C	A	2: 130,233,191 (GRCm39)	A633S	probably benign	Het
Ctnnbl1	A	T	2: 157,661,468 (GRCm39)	N326I	probably damaging	Het
Cyp46a1	T	C	12: 108,318,234 (GRCm39)	V215A	possibly damaging	Het
Dnah6	T	C	6: 73,121,701 (GRCm39)	Y1427C	probably damaging	Het
Dpy19l3	G	A	7: 35,422,169 (GRCm39)	T228I	probably damaging	Het
Fam131c	C	T	4: 141,109,761 (GRCm39)	A131V	possibly damaging	Het
Fat1	A	G	8: 45,482,592 (GRCm39)	T3061A	possibly damaging	Het
Fgl2	T	A	5: 21,578,175 (GRCm39)	L154H	possibly damaging	Het
Fhod3	T	A	18: 25,155,924 (GRCm39)	I514K	probably benign	Het
Frem3	A	G	8: 81,340,544 (GRCm39)	T946A	probably benign	Het
Gan	T	A	8: 117,913,917 (GRCm39)	V105D	probably damaging	Het
Garin5b	A	G	7: 4,761,722 (GRCm39)	V330A	probably benign	Het
Gm28043	T	C	17: 29,895,222 (GRCm39)	F134L	probably benign	Het
Gramd1c	A	G	16: 43,811,061 (GRCm39)	V221A	probably damaging	Het
Hacd1	A	G	2: 14,040,667 (GRCm39)	V196A	probably benign	Het
Kcna6	C	A	6: 126,715,576 (GRCm39)	V438L	probably damaging	Het
Klhl41	T	C	2: 69,508,582 (GRCm39)	V512A	probably benign	Het
Lrfn1	A	G	7: 28,166,111 (GRCm39)	T502A	probably damaging	Het
Notch3	A	T	17: 32,377,844 (GRCm39)	F105I	possibly damaging	Het
Or4b13	T	G	2: 90,082,953 (GRCm39)	K126N	probably damaging	Het
Or5m10	A	T	2: 85,717,306 (GRCm39)	H54L	probably benign	Het
P3h1	C	T	4: 119,092,480 (GRCm39)	T171I	probably damaging	Het
Pcdhb1	A	G	18: 37,399,366 (GRCm39)	E439G	possibly damaging	Het
Pik3c3	A	T	18: 30,423,578 (GRCm39)	K225*	probably null	Het
Pik3c3	A	G	18: 30,426,102 (GRCm39)		probably benign	Het
Pik3r5	T	A	11: 68,377,452 (GRCm39)		probably null	Het
Pnpt1	A	C	11: 29,098,272 (GRCm39)		probably benign	Het
Ppp2r1b	T	A	9: 50,789,422 (GRCm39)	V495D	probably damaging	Het
Rbfox3	C	A	11: 118,396,440 (GRCm39)		probably benign	Het
Sec14l2	G	A	11: 4,053,966 (GRCm39)	P234S	possibly damaging	Het
Sec16a	A	C	2: 26,328,915 (GRCm39)	D1033E	probably benign	Het
Septin14	A	G	5: 129,763,019 (GRCm39)	V357A	probably damaging	Het
Setx	T	C	2: 29,053,021 (GRCm39)	V2095A	possibly damaging	Het
Sf3a3	C	T	4: 124,612,136 (GRCm39)	T131I	possibly damaging	Het
Swt1	G	T	1: 151,286,760 (GRCm39)	T244N	probably benign	Het
Tbl1xr1	A	G	3: 22,246,238 (GRCm39)	T253A	probably benign	Het
Tst	G	T	15: 78,283,964 (GRCm39)	R288S	probably benign	Het
Vmn2r60	A	G	7: 41,785,910 (GRCm39)	I238V	probably benign	Het
Zbtb14	A	G	17: 69,695,184 (GRCm39)	K294R	probably benign	Het
Zfp710	T	A	7: 79,730,871 (GRCm39)	V16E	probably damaging	Het
Zfpm2	A	G	15: 40,965,320 (GRCm39)	T602A	probably benign	Het
Zfr2	G	A	10: 81,087,193 (GRCm39)	M850I	probably benign	Het

Other mutations in Snrpa

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01622:Snrpa	APN	7	26,892,395 (GRCm39)	missense	probably benign	0.18
IGL02562:Snrpa	APN	7	26,891,123 (GRCm39)	missense	probably damaging	0.98
IGL03077:Snrpa	APN	7	26,891,186 (GRCm39)	missense	probably benign	0.00
lowly	UTSW	7	26,892,371 (GRCm39)	missense	possibly damaging	0.59
R1454:Snrpa	UTSW	7	26,892,362 (GRCm39)	missense	probably benign	0.34
R1779:Snrpa	UTSW	7	26,891,174 (GRCm39)	missense	probably benign	0.02
R4238:Snrpa	UTSW	7	26,892,293 (GRCm39)	critical splice donor site	probably null
R4601:Snrpa	UTSW	7	26,894,958 (GRCm39)	start codon destroyed	probably null	0.04
R6986:Snrpa	UTSW	7	26,892,389 (GRCm39)	missense	probably damaging	0.98
R7114:Snrpa	UTSW	7	26,891,174 (GRCm39)	missense	probably benign
R7529:Snrpa	UTSW	7	26,888,878 (GRCm39)	missense	probably benign	0.03
R7756:Snrpa	UTSW	7	26,892,371 (GRCm39)	missense	possibly damaging	0.59
R7758:Snrpa	UTSW	7	26,892,371 (GRCm39)	missense	possibly damaging	0.59
R8126:Snrpa	UTSW	7	26,892,373 (GRCm39)	missense	possibly damaging	0.46
R8380:Snrpa	UTSW	7	26,886,713 (GRCm39)	missense	possibly damaging	0.71
R8532:Snrpa	UTSW	7	26,891,027 (GRCm39)	critical splice donor site	probably null
R8795:Snrpa	UTSW	7	26,891,034 (GRCm39)	missense	possibly damaging	0.70
R9281:Snrpa	UTSW	7	26,891,051 (GRCm39)	missense	probably benign

Posted On

2015-04-16