Incidental Mutation 'R5793:Snap47'
ID 447084
Institutional Source Beutler Lab
Gene Symbol Snap47
Ensembl Gene ENSMUSG00000009894
Gene Name synaptosomal-associated protein, 47
Synonyms SNAP-47, 1110031B06Rik
MMRRC Submission 043208-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5793 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 59297967-59340868 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 59329018 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 95 (E95K)
Ref Sequence ENSEMBL: ENSMUSP00000010038 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010038] [ENSMUST00000120940] [ENSMUST00000125846] [ENSMUST00000132969] [ENSMUST00000136436] [ENSMUST00000145550] [ENSMUST00000150297] [ENSMUST00000156146]
AlphaFold Q8R570
Predicted Effect probably damaging
Transcript: ENSMUST00000010038
AA Change: E95K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000010038
Gene: ENSMUSG00000009894
AA Change: E95K

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 damaging
Transcript: ENSMUST00000120940
AA Change: E95K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000113555
Gene: ENSMUSG00000009894
AA Change: E95K

DomainStartEndE-ValueType
coiled coil region 125 173 N/A INTRINSIC
SCOP:d1fpza_ 181 234 3e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000125846
Predicted Effect probably damaging
Transcript: ENSMUST00000132969
AA Change: E95K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000116170
Gene: ENSMUSG00000009894
AA Change: E95K

DomainStartEndE-ValueType
coiled coil region 125 147 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000136436
AA Change: E95K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000115762
Gene: ENSMUSG00000009894
AA Change: E95K

DomainStartEndE-ValueType
coiled coil region 125 173 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000145550
Predicted Effect probably benign
Transcript: ENSMUST00000150297
Predicted Effect probably damaging
Transcript: ENSMUST00000156146
AA Change: E95K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000121880
Gene: ENSMUSG00000009894
AA Change: E95K

DomainStartEndE-ValueType
coiled coil region 125 173 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alox12 C A 11: 70,133,879 (GRCm39) R522L probably benign Het
Arfgef1 A T 1: 10,279,753 (GRCm39) D271E probably benign Het
Arg1 C T 10: 24,796,540 (GRCm39) V96M probably benign Het
Axin1 T C 17: 26,362,282 (GRCm39) S209P probably damaging Het
B4galnt3 A G 6: 120,185,865 (GRCm39) probably null Het
Cdh23 T A 10: 60,141,907 (GRCm39) D3058V probably damaging Het
Chd9 A G 8: 91,728,384 (GRCm39) T794A probably damaging Het
Ckap5 C T 2: 91,450,180 (GRCm39) T1891I possibly damaging Het
Cspg4b G T 13: 113,457,556 (GRCm39) V1201L possibly damaging Het
Dzank1 T C 2: 144,348,144 (GRCm39) I207M probably benign Het
Fkbp9 G A 6: 56,850,498 (GRCm39) probably null Het
Gm4781 T A 10: 100,232,529 (GRCm39) noncoding transcript Het
Gprc5c G T 11: 114,755,093 (GRCm39) V257L possibly damaging Het
Gtpbp6 G A 5: 110,255,094 (GRCm39) L33F probably benign Het
Hsd11b1 A C 1: 192,924,492 (GRCm39) F27V probably damaging Het
Ift172 A T 5: 31,434,292 (GRCm39) I482N possibly damaging Het
Kcnma1 C T 14: 23,359,103 (GRCm39) probably null Het
Ly6g2 T C 15: 75,093,493 (GRCm39) probably benign Het
Myh9 T C 15: 77,653,077 (GRCm39) Q1420R probably benign Het
Ncam2 G A 16: 81,372,991 (GRCm39) V569I possibly damaging Het
Nsd1 T C 13: 55,395,819 (GRCm39) V1140A probably benign Het
Ogdhl T A 14: 32,054,730 (GRCm39) L226Q probably damaging Het
Or51a24 T C 7: 103,734,237 (GRCm39) T17A probably benign Het
Orc2 T C 1: 58,536,547 (GRCm39) M1V probably null Het
Padi2 T C 4: 140,660,501 (GRCm39) L327P probably benign Het
Palb2 T C 7: 121,726,860 (GRCm39) N337D probably benign Het
Pard3b A T 1: 61,807,132 (GRCm39) H49L probably damaging Het
Pigz T C 16: 31,764,285 (GRCm39) S448P probably benign Het
Ppfia4 A G 1: 134,239,844 (GRCm39) V911A probably damaging Het
Prr5 T A 15: 84,656,223 (GRCm39) M408K probably benign Het
Qser1 T C 2: 104,593,205 (GRCm39) Y1604C probably damaging Het
Rpgrip1l A G 8: 91,987,400 (GRCm39) S886P probably benign Het
Sdk2 T C 11: 113,759,778 (GRCm39) I408V possibly damaging Het
Sema7a A T 9: 57,867,540 (GRCm39) R431W probably damaging Het
Slc22a30 T A 19: 8,314,183 (GRCm39) Y501F possibly damaging Het
Slitrk5 T A 14: 111,917,345 (GRCm39) V323D probably damaging Het
Tbc1d9 A T 8: 83,998,069 (GRCm39) I1209F probably damaging Het
Tek T A 4: 94,708,333 (GRCm39) M297K probably benign Het
Tmem132e T A 11: 82,335,684 (GRCm39) I922N probably damaging Het
Tmx2 T C 2: 84,506,501 (GRCm39) R64G probably damaging Het
Trim68 A T 7: 102,333,560 (GRCm39) S41T possibly damaging Het
Tsga10 A T 1: 37,874,540 (GRCm39) M115K probably damaging Het
Ttc23l G T 15: 10,551,636 (GRCm39) T30K possibly damaging Het
Vmn2r84 C T 10: 130,221,754 (GRCm39) C822Y probably damaging Het
Wdr72 C T 9: 74,117,625 (GRCm39) A779V probably benign Het
Zfp580 A T 7: 5,055,891 (GRCm39) probably benign Het
Zfp772 G A 7: 7,207,283 (GRCm39) T136I probably benign Het
Other mutations in Snap47
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01777:Snap47 APN 11 59,312,477 (GRCm39) critical splice acceptor site probably null
IGL02113:Snap47 APN 11 59,319,262 (GRCm39) missense probably damaging 0.99
IGL03290:Snap47 APN 11 59,319,424 (GRCm39) missense probably damaging 1.00
R0126:Snap47 UTSW 11 59,328,813 (GRCm39) missense probably damaging 0.99
R0582:Snap47 UTSW 11 59,319,259 (GRCm39) nonsense probably null
R0633:Snap47 UTSW 11 59,319,439 (GRCm39) missense probably benign 0.25
R0883:Snap47 UTSW 11 59,329,326 (GRCm39) utr 5 prime probably benign
R1657:Snap47 UTSW 11 59,319,596 (GRCm39) missense probably benign 0.08
R1855:Snap47 UTSW 11 59,319,159 (GRCm39) unclassified probably benign
R2761:Snap47 UTSW 11 59,328,885 (GRCm39) missense probably benign 0.01
R4079:Snap47 UTSW 11 59,319,377 (GRCm39) missense probably benign 0.38
R4805:Snap47 UTSW 11 59,319,343 (GRCm39) missense possibly damaging 0.91
R4960:Snap47 UTSW 11 59,319,369 (GRCm39) missense probably damaging 1.00
R5212:Snap47 UTSW 11 59,319,178 (GRCm39) missense probably damaging 0.99
R7243:Snap47 UTSW 11 59,319,548 (GRCm39) missense probably benign 0.04
R7603:Snap47 UTSW 11 59,319,373 (GRCm39) missense probably damaging 1.00
R7870:Snap47 UTSW 11 59,328,904 (GRCm39) missense probably benign 0.11
R8001:Snap47 UTSW 11 59,329,180 (GRCm39) missense probably benign 0.20
R9156:Snap47 UTSW 11 59,319,290 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGGTCGGACTCCATCTTCTC -3'
(R):5'- ACCCTGACTCCTCATTCACTGAAG -3'

Sequencing Primer
(F):5'- TCTCCAGGCCCTTCAGG -3'
(R):5'- CTCATTCACTGAAGTTCATTGTGG -3'
Posted On 2016-12-15