Incidental Mutation 'R5148:Snrpd1'
ID 395224
Institutional Source Beutler Lab
Gene Symbol Snrpd1
Ensembl Gene ENSMUSG00000002477
Gene Name small nuclear ribonucleoprotein D1
Synonyms SMD1
MMRRC Submission 043262-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.961) question?
Stock # R5148 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 10617796-10628230 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 10626892 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 53 (V53E)
Ref Sequence ENSEMBL: ENSMUSP00000002551 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002551]
AlphaFold P62315
Predicted Effect probably benign
Transcript: ENSMUST00000002551
AA Change: V53E

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000002551
Gene: ENSMUSG00000002477
AA Change: V53E

DomainStartEndE-ValueType
Sm 5 70 1.11e-18 SMART
low complexity region 97 119 N/A INTRINSIC
Meta Mutation Damage Score 0.0929 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 100% (48/48)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a small nuclear ribonucleoprotein that belongs to the SNRNP core protein family. The protein may act as a charged protein scaffold to promote SNRNP assembly or strengthen SNRNP-SNRNP interactions through nonspecific electrostatic contacts with RNA. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ank2 A T 3: 126,819,285 (GRCm39) probably null Het
Atf7 A G 15: 102,455,608 (GRCm39) M252T probably benign Het
Cacna1h C A 17: 25,606,519 (GRCm39) D1027Y probably damaging Het
Cngb1 A G 8: 95,992,611 (GRCm39) V667A probably benign Het
Cntf T C 19: 12,741,368 (GRCm39) E164G probably damaging Het
Dbt T C 3: 116,321,893 (GRCm39) probably benign Het
Egfem1 G A 3: 29,511,972 (GRCm39) probably benign Het
Gm12790 C T 4: 101,825,268 (GRCm39) V49I possibly damaging Het
Gm5444 C T 13: 4,884,314 (GRCm39) noncoding transcript Het
Gpcpd1 A T 2: 132,376,110 (GRCm39) Y574* probably null Het
Gss G T 2: 155,415,029 (GRCm39) N225K possibly damaging Het
Il17rc G T 6: 113,459,958 (GRCm39) A635S probably benign Het
Lhfpl5 T A 17: 28,798,942 (GRCm39) D150E probably damaging Het
Lin9 T A 1: 180,496,763 (GRCm39) L351I probably benign Het
Lrrc40 T G 3: 157,760,206 (GRCm39) probably null Het
Ly6f A G 15: 75,143,646 (GRCm39) T118A probably benign Het
Malrd1 A G 2: 16,147,037 (GRCm39) N1960D unknown Het
Map3k14 T C 11: 103,130,158 (GRCm39) H253R probably benign Het
Morc2a T C 11: 3,639,084 (GRCm39) L1025P probably damaging Het
Nlrc5 G T 8: 95,203,321 (GRCm39) G474W probably damaging Het
Olr1 G T 6: 129,470,572 (GRCm39) D198E probably benign Het
Or5b123 C A 19: 13,596,874 (GRCm39) S116* probably null Het
Or5d14 G A 2: 87,880,737 (GRCm39) T77I probably benign Het
Or8c16 T C 9: 38,130,317 (GRCm39) I66T probably benign Het
Pafah1b1 A T 11: 74,575,278 (GRCm39) S209T probably damaging Het
Phf14 A T 6: 11,961,641 (GRCm39) Y426F possibly damaging Het
Phldb1 A G 9: 44,615,455 (GRCm39) V855A probably benign Het
Pira2 T G 7: 3,847,592 (GRCm39) R32S possibly damaging Het
Pnldc1 T C 17: 13,111,676 (GRCm39) I344V probably benign Het
Prss29 T C 17: 25,539,881 (GRCm39) V93A probably benign Het
Ptpn13 C T 5: 103,640,098 (GRCm39) L186F probably damaging Het
Ralgps1 A C 2: 33,048,999 (GRCm39) C303W probably damaging Het
Sdr42e1 T A 8: 118,390,342 (GRCm39) N100Y probably damaging Het
Serpina11 A T 12: 103,952,503 (GRCm39) L96Q probably damaging Het
Slc12a8 G A 16: 33,445,288 (GRCm39) R448H probably benign Het
Ssbp1 T C 6: 40,454,883 (GRCm39) V114A possibly damaging Het
T A G 17: 8,655,037 (GRCm39) E47G probably damaging Het
Tmem156 T C 5: 65,231,111 (GRCm39) K189R probably benign Het
Trim47 G T 11: 115,998,678 (GRCm39) Q314K possibly damaging Het
Vmn2r3 G T 3: 64,186,247 (GRCm39) P146Q probably damaging Het
Vmn2r6 A C 3: 64,464,015 (GRCm39) V273G probably damaging Het
Wrnip1 G T 13: 32,990,839 (GRCm39) R366L probably damaging Het
Zfp981 A T 4: 146,621,357 (GRCm39) H94L possibly damaging Het
Other mutations in Snrpd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0514:Snrpd1 UTSW 18 10,626,846 (GRCm39) missense possibly damaging 0.91
R1355:Snrpd1 UTSW 18 10,627,818 (GRCm39) missense probably benign 0.04
R1517:Snrpd1 UTSW 18 10,626,913 (GRCm39) missense probably damaging 1.00
R4973:Snrpd1 UTSW 18 10,626,835 (GRCm39) missense probably benign 0.01
R6457:Snrpd1 UTSW 18 10,623,694 (GRCm39) missense probably benign 0.19
Predicted Primers PCR Primer
(F):5'- CCCGTTGTGCATATATTGTCACAG -3'
(R):5'- ATTTTGAACAGCGAGCTAAGAC -3'

Sequencing Primer
(F):5'- GCATATATTGTCACAGGAACTTGACC -3'
(R):5'- TGAACAGCGAGCTAAGACTTAAATAC -3'
Posted On 2016-06-21