Incidental Mutation 'R4079:Snap47'
ID 316765
Institutional Source Beutler Lab
Gene Symbol Snap47
Ensembl Gene ENSMUSG00000009894
Gene Name synaptosomal-associated protein, 47
Synonyms SNAP-47, 1110031B06Rik
MMRRC Submission 040976-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4079 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 59407134-59451186 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 59428551 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 254 (V254I)
Ref Sequence ENSEMBL: ENSMUSP00000113555 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010038] [ENSMUST00000120940] [ENSMUST00000136436] [ENSMUST00000156146]
AlphaFold Q8R570
Predicted Effect probably benign
Transcript: ENSMUST00000010038
AA Change: V254I

PolyPhen 2 Score 0.377 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000010038
Gene: ENSMUSG00000009894
AA Change: V254I

DomainStartEndE-ValueType
coiled coil region 125 173 N/A INTRINSIC
SCOP:d1fpza_ 181 234 3e-3 SMART
low complexity region 335 349 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000120940
AA Change: V254I

PolyPhen 2 Score 0.377 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000113555
Gene: ENSMUSG00000009894
AA Change: V254I

DomainStartEndE-ValueType
coiled coil region 125 173 N/A INTRINSIC
SCOP:d1fpza_ 181 234 3e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000136436
SMART Domains Protein: ENSMUSP00000115762
Gene: ENSMUSG00000009894

DomainStartEndE-ValueType
coiled coil region 125 173 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000156146
SMART Domains Protein: ENSMUSP00000121880
Gene: ENSMUSG00000009894

DomainStartEndE-ValueType
coiled coil region 125 173 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 97% (73/75)
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ago3 C G 4: 126,353,680 (GRCm38) probably null Het
Ankfy1 C A 11: 72,690,009 (GRCm38) probably benign Het
Ap4b1 T A 3: 103,813,378 (GRCm38) N121K probably damaging Het
Arhgef12 T C 9: 42,975,292 (GRCm38) M1131V probably damaging Het
Arl5c A T 11: 97,993,501 (GRCm38) I88N probably damaging Het
Armc9 A T 1: 86,213,129 (GRCm38) probably benign Het
Bnc1 T C 7: 81,973,760 (GRCm38) E573G probably damaging Het
Btaf1 A G 19: 36,986,479 (GRCm38) T817A probably benign Het
C3 C T 17: 57,205,303 (GRCm38) D1542N possibly damaging Het
Cadm3 A G 1: 173,341,669 (GRCm38) V293A probably benign Het
Cadps C T 14: 12,457,702 (GRCm38) A1060T probably benign Het
Cbfa2t3 A G 8: 122,647,695 (GRCm38) probably null Het
Ccdc18 C T 5: 108,158,528 (GRCm38) Q270* probably null Het
Cdc45 A T 16: 18,811,360 (GRCm38) V19D probably damaging Het
Cfap57 C A 4: 118,598,997 (GRCm38) S500I probably benign Het
Cnga3 A T 1: 37,241,865 (GRCm38) Q47L possibly damaging Het
Corin T C 5: 72,503,883 (GRCm38) D89G probably benign Het
Cox16 A T 12: 81,474,335 (GRCm38) probably benign Het
Cyp2a4 A G 7: 26,307,366 (GRCm38) N50S probably benign Het
Diaph1 T A 18: 37,853,583 (GRCm38) E1116D possibly damaging Het
Dlg5 T C 14: 24,148,260 (GRCm38) D1535G possibly damaging Het
Enpp1 A G 10: 24,669,007 (GRCm38) probably null Het
F13b T A 1: 139,501,770 (GRCm38) F9I unknown Het
Fcer1a C T 1: 173,225,353 (GRCm38) C36Y probably damaging Het
Fcho2 A G 13: 98,755,612 (GRCm38) V318A probably damaging Het
Fzd9 A G 5: 135,249,636 (GRCm38) V465A probably benign Het
Gm10354 A T 5: 14,977,649 (GRCm38) L71Q probably damaging Het
Hbs1l T C 10: 21,352,602 (GRCm38) V493A probably damaging Het
Hgs T A 11: 120,483,048 (GRCm38) S723T probably benign Het
Hnrnpul1 C T 7: 25,726,875 (GRCm38) R517Q probably damaging Het
Kpna7 A G 5: 145,005,927 (GRCm38) I83T possibly damaging Het
Llgl1 C A 11: 60,710,284 (GRCm38) probably null Het
Lrig3 A C 10: 126,009,787 (GRCm38) E695A probably damaging Het
Lrpap1 A G 5: 35,096,037 (GRCm38) I261T possibly damaging Het
Mfn1 T G 3: 32,542,849 (GRCm38) L152W probably damaging Het
Mog A G 17: 37,012,410 (GRCm38) F212S probably damaging Het
Mpeg1 A G 19: 12,462,270 (GRCm38) N364S probably damaging Het
Mtmr3 C T 11: 4,491,057 (GRCm38) R531Q probably damaging Het
Mx2 A G 16: 97,556,036 (GRCm38) N443S probably damaging Het
Nfatc3 T C 8: 106,079,491 (GRCm38) Y323H probably damaging Het
Nup188 G A 2: 30,309,878 (GRCm38) D305N probably damaging Het
Obscn A G 11: 59,038,363 (GRCm38) V6145A probably benign Het
Olfr1037 A G 2: 86,085,312 (GRCm38) V155A possibly damaging Het
Olfr686 A T 7: 105,204,021 (GRCm38) H107Q probably damaging Het
Patl1 C T 19: 11,931,630 (GRCm38) A467V probably damaging Het
Pdss2 A T 10: 43,402,522 (GRCm38) M342L probably benign Het
Phax A G 18: 56,575,979 (GRCm38) N183S possibly damaging Het
Pnck A T X: 73,658,155 (GRCm38) V93E probably damaging Het
Prol1 A G 5: 88,328,216 (GRCm38) N155S unknown Het
Ptprk G A 10: 28,263,512 (GRCm38) V78I probably benign Het
Ptpru A T 4: 131,798,710 (GRCm38) probably null Het
Ptprv A G 1: 135,110,430 (GRCm38) noncoding transcript Het
Ranbp3l A G 15: 9,060,757 (GRCm38) N233S probably damaging Het
Rapgefl1 A G 11: 98,849,977 (GRCm38) T552A probably benign Het
Rasgrp1 A G 2: 117,285,029 (GRCm38) S693P probably benign Het
Scyl2 A T 10: 89,640,596 (GRCm38) M889K probably benign Het
Serpina3a C T 12: 104,119,675 (GRCm38) Q320* probably null Het
Slc12a1 A T 2: 125,200,623 (GRCm38) N733I possibly damaging Het
St6galnac2 A T 11: 116,681,898 (GRCm38) L244Q possibly damaging Het
Syce1 C A 7: 140,779,896 (GRCm38) L83F probably damaging Het
Tjp2 A T 19: 24,108,818 (GRCm38) V780E possibly damaging Het
Tns1 G A 1: 73,995,308 (GRCm38) R192C probably damaging Het
Trav6-3 T C 14: 53,430,080 (GRCm38) L3P possibly damaging Het
Ung G T 5: 114,130,623 (GRCm38) probably null Het
Usp32 T A 11: 85,039,229 (GRCm38) Y574F probably damaging Het
Other mutations in Snap47
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01777:Snap47 APN 11 59,421,651 (GRCm38) critical splice acceptor site probably null
IGL02113:Snap47 APN 11 59,428,436 (GRCm38) missense probably damaging 0.99
IGL03290:Snap47 APN 11 59,428,598 (GRCm38) missense probably damaging 1.00
R0126:Snap47 UTSW 11 59,437,987 (GRCm38) missense probably damaging 0.99
R0582:Snap47 UTSW 11 59,428,433 (GRCm38) nonsense probably null
R0633:Snap47 UTSW 11 59,428,613 (GRCm38) missense probably benign 0.25
R0883:Snap47 UTSW 11 59,438,500 (GRCm38) utr 5 prime probably benign
R1657:Snap47 UTSW 11 59,428,770 (GRCm38) missense probably benign 0.08
R1855:Snap47 UTSW 11 59,428,333 (GRCm38) unclassified probably benign
R2761:Snap47 UTSW 11 59,438,059 (GRCm38) missense probably benign 0.01
R4805:Snap47 UTSW 11 59,428,517 (GRCm38) missense possibly damaging 0.91
R4960:Snap47 UTSW 11 59,428,543 (GRCm38) missense probably damaging 1.00
R5212:Snap47 UTSW 11 59,428,352 (GRCm38) missense probably damaging 0.99
R5793:Snap47 UTSW 11 59,438,192 (GRCm38) missense probably damaging 1.00
R7243:Snap47 UTSW 11 59,428,722 (GRCm38) missense probably benign 0.04
R7603:Snap47 UTSW 11 59,428,547 (GRCm38) missense probably damaging 1.00
R7870:Snap47 UTSW 11 59,438,078 (GRCm38) missense probably benign 0.11
R8001:Snap47 UTSW 11 59,438,354 (GRCm38) missense probably benign 0.20
R9156:Snap47 UTSW 11 59,428,464 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTGTTCCTGAGCACTAAGGC -3'
(R):5'- GCTCTAAGTTTTGGAAGATGCCG -3'

Sequencing Primer
(F):5'- TGAGCACTAAGGCGTCTTC -3'
(R):5'- AATCTCAAGGAAGGTGTGTCTTC -3'
Posted On 2015-05-15