Incidental Mutation 'IGL01622:Snrpa'
ID278635
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Snrpa
Ensembl Gene ENSMUSG00000061479
Gene Namesmall nuclear ribonucleoprotein polypeptide A
SynonymsRnu1a1, C430021M15Rik, U1 snRNP, U1A
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.964) question?
Stock #IGL01622
Quality Score
Status
Chromosome7
Chromosomal Location27187005-27196271 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 27192970 bp
ZygosityHeterozygous
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]
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: ENSMUST00000179391
SMART Domains Protein: ENSMUSP00000137189
Gene: ENSMUSG00000078786

DomainStartEndE-ValueType
low complexity region 26 42 N/A INTRINSIC
low complexity region 50 80 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206439
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930596D02Rik G A 14: 35,810,067 Q184* probably null Het
A1bg A C 15: 60,917,893 I502S possibly damaging Het
Actl11 T C 9: 107,928,576 S33P probably benign Het
Aftph G T 11: 20,709,632 D730E probably damaging Het
Arhgap29 A G 3: 121,974,124 probably benign Het
Brf1 T G 12: 112,961,175 E643A probably benign Het
Caskin1 G T 17: 24,503,940 probably null Het
Ccnjl T C 11: 43,585,327 V259A probably benign Het
Ccser2 G T 14: 36,940,963 T88K probably benign Het
Cdk17 T C 10: 93,238,962 probably benign Het
Clec16a G A 16: 10,577,910 S309N possibly damaging Het
Cpxm1 C A 2: 130,391,271 A633S probably benign Het
Ctnnbl1 A T 2: 157,819,548 N326I probably damaging Het
Cyp46a1 T C 12: 108,351,975 V215A possibly damaging Het
Daxx A G 17: 33,913,480 D528G probably benign Het
Dnah6 T C 6: 73,144,718 Y1427C probably damaging Het
Dpy19l3 G A 7: 35,722,744 T228I probably damaging Het
Fam131c C T 4: 141,382,450 A131V possibly damaging Het
Fam71e2 A G 7: 4,758,723 V330A probably benign Het
Fat1 A G 8: 45,029,555 T3061A possibly damaging Het
Fgl2 T A 5: 21,373,177 L154H possibly damaging Het
Fhod3 T A 18: 25,022,867 I514K probably benign Het
Ficd G A 5: 113,738,561 G266S probably damaging Het
Frem3 A G 8: 80,613,915 T946A probably benign Het
Gan T A 8: 117,187,178 V105D probably damaging Het
Gramd1c A G 16: 43,990,698 V221A probably damaging Het
Hacd1 A G 2: 14,035,856 V196A probably benign Het
Kcna6 C A 6: 126,738,613 V438L probably damaging Het
Kif14 T C 1: 136,497,356 probably benign Het
Klhl41 T C 2: 69,678,238 V512A probably benign Het
Lrfn1 A G 7: 28,466,686 T502A probably damaging Het
Notch3 A T 17: 32,158,870 F105I possibly damaging Het
Olfr1023 A T 2: 85,886,962 H54L probably benign Het
Olfr142 T G 2: 90,252,609 K126N probably damaging Het
P3h1 C T 4: 119,235,283 T171I probably damaging Het
Pcdhb1 A G 18: 37,266,313 E439G possibly damaging Het
Pik3c3 A T 18: 30,290,525 K225* probably null Het
Pik3c3 A G 18: 30,293,049 probably benign Het
Pik3r5 T A 11: 68,486,626 probably null Het
Pnpt1 A C 11: 29,148,272 probably benign Het
Ppp2r1b T A 9: 50,878,122 V495D probably damaging Het
Rbfox3 C A 11: 118,505,614 probably benign Het
Sec14l2 G A 11: 4,103,966 P234S possibly damaging Het
Sec16a A C 2: 26,438,903 D1033E probably benign Het
Sept14 A G 5: 129,685,955 V357A probably damaging Het
Sf3a3 C T 4: 124,718,343 T131I possibly damaging Het
Swt1 G T 1: 151,411,009 T244N probably benign Het
Tbl1xr1 A G 3: 22,192,074 T253A probably benign Het
Tst G T 15: 78,399,764 R288S probably benign Het
Vmn2r60 A G 7: 42,136,486 I238V probably benign Het
Zbtb14 A G 17: 69,388,189 K294R probably benign Het
Zfp710 T A 7: 80,081,123 V16E probably damaging Het
Zfpm2 A G 15: 41,101,924 T602A probably benign Het
Zfr2 G A 10: 81,251,359 M850I probably benign Het
Other mutations in Snrpa
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01623:Snrpa APN 7 27192970 missense probably benign 0.18
IGL02562:Snrpa APN 7 27191698 missense probably damaging 0.98
IGL03077:Snrpa APN 7 27191761 missense probably benign 0.00
lowly UTSW 7 27192946 missense possibly damaging 0.59
R1454:Snrpa UTSW 7 27192937 missense probably benign 0.34
R1779:Snrpa UTSW 7 27191749 missense probably benign 0.02
R4238:Snrpa UTSW 7 27192868 critical splice donor site probably null
R4601:Snrpa UTSW 7 27195533 start codon destroyed probably null 0.04
R6986:Snrpa UTSW 7 27192964 missense probably damaging 0.98
R7114:Snrpa UTSW 7 27191749 missense probably benign
R7529:Snrpa UTSW 7 27189453 missense probably benign 0.03
R7756:Snrpa UTSW 7 27192946 missense possibly damaging 0.59
R7758:Snrpa UTSW 7 27192946 missense possibly damaging 0.59
R8126:Snrpa UTSW 7 27192948 missense possibly damaging 0.46
R8380:Snrpa UTSW 7 27187288 missense possibly damaging 0.71
Posted On2015-04-16