Incidental Mutation 'R7114:Snrpa'
ID 551679
Institutional Source Beutler Lab
Gene Symbol Snrpa
Ensembl Gene ENSMUSG00000061479
Gene Name small nuclear ribonucleoprotein polypeptide A
Synonyms Rnu1a1, C430021M15Rik, U1A, U1 snRNP
MMRRC Submission 045244-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.960) question?
Stock # R7114 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 26886431-26895696 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 26891174 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 99 (I99N)
Ref Sequence ENSEMBL: ENSMUSP00000079228 (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: I99N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000079228
Gene: ENSMUSG00000061479
AA Change: I99N

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: I99N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000113678
Gene: ENSMUSG00000061479
AA Change: I99N

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: I99N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000115335
Gene: ENSMUSG00000061479
AA Change: I99N

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 probably benign
Transcript: ENSMUST00000163311
AA Change: I99N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000131897
Gene: ENSMUSG00000061479
AA Change: I99N

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 98% (59/60)
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk C T 11: 119,900,445 (GRCm39) A1291T probably benign Het
Anks1b G A 10: 90,143,560 (GRCm39) R523Q probably damaging Het
Arhgap12 T A 18: 6,028,056 (GRCm39) I690F probably damaging Het
Caln1 T C 5: 130,868,124 (GRCm39) V220A possibly damaging Het
Cd79b T A 11: 106,202,713 (GRCm39) T263S probably damaging Het
Cep290 A T 10: 100,379,220 (GRCm39) K67N probably damaging Het
Col19a1 T C 1: 24,377,017 (GRCm39) T443A possibly damaging Het
Col25a1 A G 3: 130,389,324 (GRCm39) I636V probably benign Het
Col9a3 C T 2: 180,245,590 (GRCm39) P154S unknown Het
Cyp3a11 T A 5: 145,795,593 (GRCm39) M453L probably benign Het
Disp1 C A 1: 182,869,030 (GRCm39) R1130L probably damaging Het
Eno1b T C 18: 48,180,560 (GRCm39) V246A possibly damaging Het
Eogt T C 6: 97,092,965 (GRCm39) Y404C probably damaging Het
Ephx3 T A 17: 32,404,006 (GRCm39) E380V possibly damaging Het
Fancl T C 11: 26,357,615 (GRCm39) L114P probably damaging Het
Flad1 C T 3: 89,314,837 (GRCm39) G287S probably benign Het
Gcm1 G T 9: 77,967,061 (GRCm39) K93N probably damaging Het
Golga3 T A 5: 110,350,578 (GRCm39) D704E probably benign Het
Grb14 A C 2: 64,747,197 (GRCm39) I451S probably damaging Het
Gtf3c3 T C 1: 54,462,666 (GRCm39) N366D probably benign Het
Hecw1 A T 13: 14,486,356 (GRCm39) H376Q probably benign Het
Helb A T 10: 119,941,161 (GRCm39) V509E probably benign Het
Hephl1 C T 9: 14,981,111 (GRCm39) E774K probably damaging Het
Hkdc1 T C 10: 62,229,622 (GRCm39) E685G probably damaging Het
Igfn1 T C 1: 135,894,519 (GRCm39) T2016A probably benign Het
Igkv5-43 T G 6: 69,800,515 (GRCm39) Q57H probably damaging Het
Lamc3 T A 2: 31,820,657 (GRCm39) V1224E probably damaging Het
Lgals3bp C T 11: 118,284,309 (GRCm39) W423* probably null Het
Mcm9 G A 10: 53,414,669 (GRCm39) T137I possibly damaging Het
Mdga1 C A 17: 30,061,816 (GRCm39) probably null Het
Mocos C T 18: 24,799,572 (GRCm39) P269S probably damaging Het
Naa40 A G 19: 7,207,322 (GRCm39) V134A probably damaging Het
Neb G A 2: 52,082,571 (GRCm39) L5680F probably damaging Het
Nedd9 A G 13: 41,492,099 (GRCm39) V137A probably benign Het
Nup133 T C 8: 124,642,112 (GRCm39) I784V probably benign Het
Nup214 T C 2: 31,915,256 (GRCm39) S1147P possibly damaging Het
Or10x4 A T 1: 174,218,805 (GRCm39) M57L probably damaging Het
Or8g28 G T 9: 39,169,897 (GRCm39) Q24K possibly damaging Het
Plcb4 T A 2: 135,824,043 (GRCm39) probably null Het
Pomt1 C T 2: 32,143,848 (GRCm39) T671I probably benign Het
Pomt2 G T 12: 87,157,150 (GRCm39) P723H probably damaging Het
Prpf8 T A 11: 75,394,181 (GRCm39) Y1741* probably null Het
Ptprs C G 17: 56,758,697 (GRCm39) V175L probably benign Het
Slc36a4 T C 9: 15,633,250 (GRCm39) F95L probably benign Het
Smn1 C T 13: 100,267,648 (GRCm39) P225S probably benign Het
Tgm5 G T 2: 120,878,977 (GRCm39) Y588* probably null Het
Tmeff2 T A 1: 51,224,404 (GRCm39) probably null Het
Tmem120b T C 5: 123,254,741 (GRCm39) F314S probably damaging Het
Trim43b C T 9: 88,967,661 (GRCm39) R325H probably benign Het
Vmn1r26 C T 6: 57,985,755 (GRCm39) A145T probably benign Het
Wdfy4 T C 14: 32,693,531 (GRCm39) probably null Het
Wnt5a C A 14: 28,244,713 (GRCm39) T320K probably damaging Het
Wrn AGCAGGTAATACATACCG AG 8: 33,775,149 (GRCm39) probably null Het
Zfp398 T C 6: 47,842,910 (GRCm39) S321P probably benign Het
Zfp959 T A 17: 56,205,501 (GRCm39) C513S possibly damaging Het
Zfr2 A G 10: 81,080,559 (GRCm39) D411G probably damaging Het
Zkscan5 T A 5: 145,147,988 (GRCm39) probably benign Het
Other mutations in Snrpa
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01622:Snrpa APN 7 26,892,395 (GRCm39) missense probably benign 0.18
IGL01623: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
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
Predicted Primers PCR Primer
(F):5'- GGACACTTTTCTGCACCCTG -3'
(R):5'- GCTGCTTCCTATAGTCCAGCTATTG -3'

Sequencing Primer
(F):5'- GCACCCTGCTTACCGGTAC -3'
(R):5'- TCTACAATAATCTGGCCAAGTGG -3'
Posted On 2019-05-15