Incidental Mutation 'R4454:Snapc3'
ID 329078
Institutional Source Beutler Lab
Gene Symbol Snapc3
Ensembl Gene ENSMUSG00000028483
Gene Name small nuclear RNA activating complex, polypeptide 3
Synonyms 4930558A07Rik, E030018J20Rik, 5031401C21Rik, 1810020H02Rik
MMRRC Submission 041714-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.971) question?
Stock # R4454 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 83335961-83385913 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 83336996 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 119 (E119G)
Ref Sequence ENSEMBL: ENSMUSP00000102842 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030206] [ENSMUST00000071544] [ENSMUST00000123262] [ENSMUST00000124856] [ENSMUST00000137512] [ENSMUST00000143533]
AlphaFold Q9D2C9
Predicted Effect possibly damaging
Transcript: ENSMUST00000030206
AA Change: E119G

PolyPhen 2 Score 0.714 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000030206
Gene: ENSMUSG00000028483
AA Change: E119G

DomainStartEndE-ValueType
Pfam:zf-SNAP50_C 198 401 6.5e-82 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000071544
AA Change: E119G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000102842
Gene: ENSMUSG00000028483
AA Change: E119G

DomainStartEndE-ValueType
Pfam:zf-SNAP50_C 197 269 3.2e-19 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000123262
AA Change: E119G

PolyPhen 2 Score 0.714 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000124038
Gene: ENSMUSG00000028483
AA Change: E119G

DomainStartEndE-ValueType
Pfam:zf-SNAP50_C 197 403 3.3e-76 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000124856
AA Change: E119G

PolyPhen 2 Score 0.714 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000124181
Gene: ENSMUSG00000028483
AA Change: E119G

DomainStartEndE-ValueType
Pfam:zf-SNAP50_C 197 403 3.3e-76 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000137512
AA Change: E119G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect possibly damaging
Transcript: ENSMUST00000143533
AA Change: E119G

PolyPhen 2 Score 0.714 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000123793
Gene: ENSMUSG00000028483
AA Change: E119G

DomainStartEndE-ValueType
Pfam:zf-SNAP50_C 197 403 3.3e-76 PFAM
Meta Mutation Damage Score 0.1755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
Validation Efficiency 100% (51/51)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap4e1 T A 2: 126,889,061 (GRCm39) F509I probably damaging Het
Asmt A T X: 169,106,456 (GRCm39) M19L probably benign Het
Atf6 C T 1: 170,621,608 (GRCm39) R471Q probably damaging Het
Atp4a G A 7: 30,419,650 (GRCm39) R671Q probably benign Het
Baiap3 T A 17: 25,468,510 (GRCm39) D250V probably damaging Het
C2cd4d T A 3: 94,271,054 (GRCm39) F107I probably damaging Het
Cdkn2d C G 9: 21,202,185 (GRCm39) V21L probably benign Het
Cldn6 T C 17: 23,900,060 (GRCm39) probably null Het
Cpa5 A G 6: 30,626,323 (GRCm39) N228S possibly damaging Het
Cracdl T C 1: 37,663,834 (GRCm39) E163G probably damaging Het
Crocc T C 4: 140,747,716 (GRCm39) S1478G possibly damaging Het
Csmd1 A T 8: 15,995,011 (GRCm39) C2675S probably damaging Het
Cthrc1 C A 15: 38,940,408 (GRCm39) Q4K probably benign Het
Ddo A T 10: 40,523,543 (GRCm39) I178F probably damaging Het
Dmxl1 A G 18: 50,026,399 (GRCm39) T1836A probably benign Het
Dnah9 T G 11: 66,038,215 (GRCm39) Q107P probably damaging Het
Dusp26 A G 8: 31,584,172 (GRCm39) N93S probably damaging Het
Egr2 GAA GA 10: 67,375,733 (GRCm39) probably null Het
Epha5 T C 5: 84,304,303 (GRCm39) I501V probably damaging Het
Eya1 C T 1: 14,253,420 (GRCm39) V519M probably damaging Het
Fam227b T A 2: 125,988,188 (GRCm39) probably benign Het
Fgd5 C T 6: 91,966,167 (GRCm39) S642F probably damaging Het
Fsip2 G T 2: 82,821,120 (GRCm39) A5618S possibly damaging Het
Gm12034 T A 11: 20,396,476 (GRCm39) noncoding transcript Het
Liph T C 16: 21,803,018 (GRCm39) D17G probably benign Het
Mbd3 A T 10: 80,229,817 (GRCm39) L164H probably damaging Het
Med4 A G 14: 73,755,502 (GRCm39) probably benign Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Nav2 A T 7: 49,198,292 (GRCm39) probably null Het
Or4k1 T C 14: 50,377,953 (GRCm39) I48V probably benign Het
Or8b1b C A 9: 38,375,938 (GRCm39) F200L probably benign Het
Pcdha11 G A 18: 37,140,426 (GRCm39) G685D probably benign Het
Pgc A G 17: 48,043,335 (GRCm39) I228V probably benign Het
Pramel25 A G 4: 143,519,394 (GRCm39) S52G probably benign Het
Rad51 C T 2: 118,962,049 (GRCm39) H199Y probably damaging Het
Robo2 A T 16: 74,149,407 (GRCm39) probably benign Het
Sap130 C T 18: 31,844,413 (GRCm39) T861I probably damaging Het
Sh3tc2 A T 18: 62,140,844 (GRCm39) D1061V probably damaging Het
Shoc1 T C 4: 59,092,383 (GRCm39) D266G possibly damaging Het
Sspo G A 6: 48,464,159 (GRCm39) G3862D probably benign Het
Tbc1d16 G A 11: 119,048,699 (GRCm39) T318M possibly damaging Het
Thrb T A 14: 18,011,187 (GRCm38) W188R probably damaging Het
Thsd1 T C 8: 22,733,594 (GRCm39) Y214H probably damaging Het
Tnfrsf13b T C 11: 61,032,264 (GRCm39) V98A probably benign Het
Topbp1 T C 9: 103,222,070 (GRCm39) Y1314H probably damaging Het
Ttn C A 2: 76,616,150 (GRCm39) V8271L possibly damaging Het
Ttn T C 2: 76,777,257 (GRCm39) M1382V probably benign Het
Utrn G T 10: 12,603,584 (GRCm39) Q599K possibly damaging Het
Zfp995 G A 17: 22,098,932 (GRCm39) T434I probably benign Het
Zfy1 G T Y: 725,518 (GRCm39) T749K possibly damaging Het
Other mutations in Snapc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00484:Snapc3 APN 4 83,354,633 (GRCm39) missense probably damaging 0.97
IGL01400:Snapc3 APN 4 83,368,414 (GRCm39) missense probably damaging 1.00
IGL02031:Snapc3 APN 4 83,336,213 (GRCm39) missense probably benign 0.04
IGL02475:Snapc3 APN 4 83,368,333 (GRCm39) missense probably benign 0.04
IGL03141:Snapc3 APN 4 83,353,523 (GRCm39) missense probably damaging 1.00
R0417:Snapc3 UTSW 4 83,368,399 (GRCm39) missense probably benign 0.41
R0628:Snapc3 UTSW 4 83,368,397 (GRCm39) missense probably benign 0.01
R0631:Snapc3 UTSW 4 83,336,039 (GRCm39) missense probably damaging 0.99
R0647:Snapc3 UTSW 4 83,368,466 (GRCm39) missense probably damaging 1.00
R2328:Snapc3 UTSW 4 83,353,514 (GRCm39) nonsense probably null
R4860:Snapc3 UTSW 4 83,383,134 (GRCm39) intron probably benign
R6497:Snapc3 UTSW 4 83,371,363 (GRCm39) nonsense probably null
R6762:Snapc3 UTSW 4 83,353,495 (GRCm39) missense probably damaging 1.00
R7325:Snapc3 UTSW 4 83,353,507 (GRCm39) missense probably benign 0.04
R7599:Snapc3 UTSW 4 83,336,073 (GRCm39) nonsense probably null
R7880:Snapc3 UTSW 4 83,353,431 (GRCm39) missense probably damaging 1.00
R8489:Snapc3 UTSW 4 83,369,531 (GRCm39) missense probably damaging 1.00
R9412:Snapc3 UTSW 4 83,354,570 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TGCCTGCTGGATTTCATAAGAC -3'
(R):5'- TTACTGAATGGAAGAGCCTGGG -3'

Sequencing Primer
(F):5'- CCCGCTGTTGAAAAATGC -3'
(R):5'- CATTGAACTCACTAGGTAGCTAAGGC -3'
Posted On 2015-07-21