Incidental Mutation 'R0918:Snrpa1'
ID 81537
Institutional Source Beutler Lab
Gene Symbol Snrpa1
Ensembl Gene ENSMUSG00000030512
Gene Name small nuclear ribonucleoprotein polypeptide A'
Synonyms 1500015N06Rik, U2 snRNP-A'
MMRRC Submission 039068-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.968) question?
Stock # R0918 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 65710084-65724335 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 65720363 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 189 (T189A)
Ref Sequence ENSEMBL: ENSMUSP00000117947 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032723] [ENSMUST00000153609]
AlphaFold P57784
Predicted Effect probably benign
Transcript: ENSMUST00000032723
SMART Domains Protein: ENSMUSP00000032723
Gene: ENSMUSG00000030512

DomainStartEndE-ValueType
Blast:LRR 63 86 1e-6 BLAST
LRRcap 128 146 2.63e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123157
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139082
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147702
Predicted Effect probably benign
Transcript: ENSMUST00000153609
AA Change: T189A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000117947
Gene: ENSMUSG00000030512
AA Change: T189A

DomainStartEndE-ValueType
Blast:LRR 63 86 3e-6 BLAST
LRRcap 128 146 2.63e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206150
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206166
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206409
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.7%
  • 10x: 96.2%
  • 20x: 90.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadac T G 3: 59,946,953 (GRCm39) I217R probably damaging Het
Acp1 G T 12: 30,955,126 (GRCm39) S20* probably null Het
Adcy3 A G 12: 4,248,360 (GRCm39) D474G probably benign Het
Apob T C 12: 8,033,941 (GRCm39) I217T probably benign Het
Cdh12 G A 15: 21,492,685 (GRCm39) V235I probably damaging Het
Cdhr5 T A 7: 140,852,062 (GRCm39) T197S probably damaging Het
Cerkl A G 2: 79,163,973 (GRCm39) I449T probably benign Het
Cpz A G 5: 35,674,998 (GRCm39) Y84H probably damaging Het
Drosha T C 15: 12,842,619 (GRCm39) probably null Het
Fbxo11 A T 17: 88,305,031 (GRCm39) N613K probably damaging Het
Fes G T 7: 80,030,953 (GRCm39) T536K probably damaging Het
Gm13941 G C 2: 110,930,945 (GRCm39) T76R unknown Het
Lrp1 T C 10: 127,429,834 (GRCm39) E412G probably damaging Het
Map3k12 T C 15: 102,412,287 (GRCm39) I285V probably damaging Het
Map3k13 G A 16: 21,744,990 (GRCm39) D850N probably damaging Het
Mapk4 C T 18: 74,103,408 (GRCm39) V34M probably damaging Het
Morn1 T A 4: 155,171,928 (GRCm39) W43R probably damaging Het
Ncan T G 8: 70,561,039 (GRCm39) M643L possibly damaging Het
Npc1l1 G A 11: 6,168,239 (GRCm39) T984M probably damaging Het
Or14c44 A G 7: 86,062,403 (GRCm39) T278A probably benign Het
Or5a3 A G 19: 12,400,599 (GRCm39) K309E probably benign Het
Or5ak4 A G 2: 85,162,276 (GRCm39) probably benign Het
Or5p5 T C 7: 107,414,418 (GRCm39) I209T probably benign Het
Pcdhb22 T C 18: 37,653,067 (GRCm39) F255L probably damaging Het
Pi4ka T C 16: 17,103,124 (GRCm39) D1697G possibly damaging Het
Pla2g12b A G 10: 59,257,306 (GRCm39) D163G probably damaging Het
Pot1a G A 6: 25,756,267 (GRCm39) T359M possibly damaging Het
Sass6 G A 3: 116,397,172 (GRCm39) probably null Het
Scn1a C T 2: 66,153,651 (GRCm39) probably null Het
Slc38a1 A G 15: 96,507,743 (GRCm39) L103P probably damaging Het
Slc38a6 T A 12: 73,391,559 (GRCm39) probably null Het
Smarca4 C T 9: 21,547,511 (GRCm39) P265S probably benign Het
Snx11 G A 11: 96,660,104 (GRCm39) P195L possibly damaging Het
Spen T G 4: 141,212,875 (GRCm39) I584L unknown Het
Sult2a5 T A 7: 13,359,334 (GRCm39) H103Q probably benign Het
Syce1 T C 7: 140,360,436 (GRCm39) K50E probably damaging Het
Timm21 G C 18: 84,967,387 (GRCm39) L130V probably damaging Het
Tmem132a A G 19: 10,835,477 (GRCm39) S1018P probably damaging Het
Other mutations in Snrpa1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1540:Snrpa1 UTSW 7 65,720,409 (GRCm39) missense probably damaging 1.00
R1660:Snrpa1 UTSW 7 65,719,246 (GRCm39) missense probably damaging 1.00
R2289:Snrpa1 UTSW 7 65,713,586 (GRCm39) missense probably benign 0.17
R4822:Snrpa1 UTSW 7 65,719,321 (GRCm39) intron probably benign
R7258:Snrpa1 UTSW 7 65,719,891 (GRCm39) missense probably damaging 1.00
R8443:Snrpa1 UTSW 7 65,720,381 (GRCm39) missense probably benign 0.45
R8513:Snrpa1 UTSW 7 65,720,381 (GRCm39) missense probably benign 0.45
R8514:Snrpa1 UTSW 7 65,720,381 (GRCm39) missense probably benign 0.45
R8515:Snrpa1 UTSW 7 65,720,381 (GRCm39) missense probably benign 0.45
R8516:Snrpa1 UTSW 7 65,720,381 (GRCm39) missense probably benign 0.45
Predicted Primers PCR Primer
(F):5'- CACAGCTTGCAAAGGATATTGCCAG -3'
(R):5'- GGAGAGGCACACAGATGCCTTAAAC -3'

Sequencing Primer
(F):5'- GAAACACTGTCTGACAGATTGC -3'
(R):5'- TCAAATCAAAGTCTGTGCAAAGAG -3'
Posted On 2013-11-07