Incidental Mutation 'R0628:Snapc3'
ID 57688
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 038817-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.971) question?
Stock # R0628 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 83335961-83385913 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 83368397 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 298 (H298L)
Ref Sequence ENSEMBL: ENSMUSP00000123793 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030206] [ENSMUST00000123262] [ENSMUST00000124856] [ENSMUST00000137512] [ENSMUST00000143533]
AlphaFold Q9D2C9
Predicted Effect probably benign
Transcript: ENSMUST00000030206
AA Change: H298L

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000030206
Gene: ENSMUSG00000028483
AA Change: H298L

DomainStartEndE-ValueType
Pfam:zf-SNAP50_C 198 401 6.5e-82 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000123262
AA Change: H298L

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000124038
Gene: ENSMUSG00000028483
AA Change: H298L

DomainStartEndE-ValueType
Pfam:zf-SNAP50_C 197 403 3.3e-76 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000124856
AA Change: H298L

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000124181
Gene: ENSMUSG00000028483
AA Change: H298L

DomainStartEndE-ValueType
Pfam:zf-SNAP50_C 197 403 3.3e-76 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000137512
Predicted Effect probably benign
Transcript: ENSMUST00000143533
AA Change: H298L

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000123793
Gene: ENSMUSG00000028483
AA Change: H298L

DomainStartEndE-ValueType
Pfam:zf-SNAP50_C 197 403 3.3e-76 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159518
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160742
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.3%
  • 20x: 94.6%
Validation Efficiency 98% (58/59)
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alpk2 A C 18: 65,440,367 (GRCm39) V809G possibly damaging Het
Bank1 T A 3: 135,772,151 (GRCm39) D493V probably damaging Het
Camk2d T C 3: 126,604,273 (GRCm39) probably benign Het
Ccdc17 T A 4: 116,455,745 (GRCm39) L292H probably damaging Het
Ccdc7b A G 8: 129,837,498 (GRCm39) probably benign Het
Cd34 C A 1: 194,641,525 (GRCm39) T317K probably damaging Het
Col6a5 C G 9: 105,789,649 (GRCm39) probably null Het
Colgalt2 G T 1: 152,384,312 (GRCm39) A551S possibly damaging Het
Copa T C 1: 171,918,592 (GRCm39) probably benign Het
Coq7 T C 7: 118,128,867 (GRCm39) D56G probably damaging Het
Dlg4 C T 11: 69,922,610 (GRCm39) T201I probably damaging Het
Dnah7a T A 1: 53,536,264 (GRCm39) D2593V probably benign Het
Ect2l T A 10: 18,018,788 (GRCm39) E536V probably damaging Het
Emilin3 A G 2: 160,752,799 (GRCm39) probably benign Het
Eml2 T C 7: 18,935,479 (GRCm39) probably benign Het
Fam135b C T 15: 71,320,505 (GRCm39) probably benign Het
Fhip2b T C 14: 70,825,161 (GRCm39) T392A possibly damaging Het
Gart C T 16: 91,430,790 (GRCm39) R424H probably benign Het
Gramd1a A G 7: 30,842,049 (GRCm39) L80P probably damaging Het
Herc1 A G 9: 66,358,163 (GRCm39) K2415E probably benign Het
Ica1 C T 6: 8,644,256 (GRCm39) probably benign Het
Idi2l T A 13: 8,990,958 (GRCm39) probably benign Het
Iyd A T 10: 3,497,127 (GRCm39) M161L probably damaging Het
Kdm5a T C 6: 120,392,200 (GRCm39) L974S probably damaging Het
Kif1a T C 1: 92,947,605 (GRCm39) D1619G probably damaging Het
Lypd8 C T 11: 58,275,499 (GRCm39) T78M probably damaging Het
Marchf10 T A 11: 105,280,986 (GRCm39) H433L probably benign Het
Mbp A G 18: 82,572,742 (GRCm39) Y13C probably damaging Het
Mertk A T 2: 128,580,233 (GRCm39) N229I probably damaging Het
Msrb2 T A 2: 19,398,091 (GRCm39) D116E probably damaging Het
Nfix G A 8: 85,453,155 (GRCm39) R300C probably damaging Het
Otoa G A 7: 120,744,873 (GRCm39) probably benign Het
Pclo A G 5: 14,719,552 (GRCm39) T1230A unknown Het
Polrmt T C 10: 79,574,979 (GRCm39) T851A possibly damaging Het
Prpf6 C T 2: 181,277,841 (GRCm39) P401L probably damaging Het
Rasgrp4 A G 7: 28,839,635 (GRCm39) probably benign Het
Rc3h2 A T 2: 37,272,064 (GRCm39) probably benign Het
Reps1 A G 10: 17,996,841 (GRCm39) T588A probably damaging Het
Rtel1 A C 2: 180,993,674 (GRCm39) S782R probably benign Het
Sacm1l A G 9: 123,378,060 (GRCm39) probably benign Het
Skic3 G C 13: 76,298,848 (GRCm39) V1185L possibly damaging Het
Skint5 A T 4: 113,588,266 (GRCm39) L728* probably null Het
Slc9b2 T A 3: 135,029,536 (GRCm39) probably benign Het
Tex9 A T 9: 72,399,233 (GRCm39) M1K probably null Het
Trappc13 C T 13: 104,291,424 (GRCm39) probably benign Het
Usp3 C T 9: 66,425,726 (GRCm39) R467H probably benign Het
Vmn2r11 T A 5: 109,195,597 (GRCm39) L576F possibly damaging Het
Wnk4 T C 11: 101,165,849 (GRCm39) F792S probably benign Het
Zfp1007 T C 5: 109,826,442 (GRCm39) probably null Het
Zfp280d T C 9: 72,269,230 (GRCm39) V764A probably benign Het
Zfp69 G A 4: 120,806,622 (GRCm39) Q4* probably null Het
Zfp692 T G 11: 58,200,449 (GRCm39) L206R probably damaging Het
Zic2 CCCACCACCACCATCACCACCACCACC CCCACCATCACCACCACCACC 14: 122,713,776 (GRCm39) probably benign Het
Zic4 T A 9: 91,266,170 (GRCm39) Y264* probably null Het
Zic4 T A 9: 91,266,172 (GRCm39) M272K probably benign Het
Zscan4b A T 7: 10,635,390 (GRCm39) N284K probably 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
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
R4454:Snapc3 UTSW 4 83,336,996 (GRCm39) missense probably damaging 1.00
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'- CCAGATTGTATGTGACTGCACACAACC -3'
(R):5'- ACGCTGGTAAATTACACTTTTGCACTG -3'

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