Incidental Mutation 'R7325:Snapc3'
ID 568809
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 045419-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.971) question?
Stock # R7325 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 83335961-83385913 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 83353507 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 182 (I182T)
Ref Sequence ENSEMBL: ENSMUSP00000030206 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030206] [ENSMUST00000071544] [ENSMUST00000123262] [ENSMUST00000124856] [ENSMUST00000137512] [ENSMUST00000143533]
AlphaFold Q9D2C9
Predicted Effect probably benign
Transcript: ENSMUST00000030206
AA Change: I182T

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000030206
Gene: ENSMUSG00000028483
AA Change: I182T

DomainStartEndE-ValueType
Pfam:zf-SNAP50_C 198 401 6.5e-82 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000071544
AA Change: I182T

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000102842
Gene: ENSMUSG00000028483
AA Change: I182T

DomainStartEndE-ValueType
Pfam:zf-SNAP50_C 197 269 3.2e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000123262
AA Change: I182T

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000124038
Gene: ENSMUSG00000028483
AA Change: I182T

DomainStartEndE-ValueType
Pfam:zf-SNAP50_C 197 403 3.3e-76 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000124856
AA Change: I182T

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000124181
Gene: ENSMUSG00000028483
AA Change: I182T

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: I182T

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000123793
Gene: ENSMUSG00000028483
AA Change: I182T

DomainStartEndE-ValueType
Pfam:zf-SNAP50_C 197 403 3.3e-76 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (62/62)
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb3 T A 1: 25,571,711 (GRCm39) Q402L probably benign Het
Afap1l1 T C 18: 61,869,917 (GRCm39) T638A probably benign Het
Agtr1a A C 13: 30,565,890 (GRCm39) K318N possibly damaging Het
Anks1b A G 10: 90,777,294 (GRCm39) T1095A probably damaging Het
Ap3d1 A T 10: 80,559,637 (GRCm39) I207N probably damaging Het
Arhgef11 T C 3: 87,620,599 (GRCm39) L484P possibly damaging Het
Astn2 C T 4: 65,460,906 (GRCm39) S1076N probably benign Het
Baat C A 4: 49,490,213 (GRCm39) L290F probably benign Het
Boll T C 1: 55,343,757 (GRCm39) Y222C probably damaging Het
Bphl A T 13: 34,234,324 (GRCm39) I147F possibly damaging Het
Cadps2 T G 6: 23,409,934 (GRCm39) D766A unknown Het
Cd300lb T A 11: 114,815,858 (GRCm39) K210M probably damaging Het
Cdan1 T C 2: 120,555,185 (GRCm39) Q797R probably benign Het
Celsr1 T A 15: 85,917,209 (GRCm39) S255C probably damaging Het
Cfap91 T A 16: 38,141,963 (GRCm39) probably null Het
Cip2a T A 16: 48,826,184 (GRCm39) M417K probably benign Het
Csmd1 G A 8: 16,108,721 (GRCm39) S1894L probably damaging Het
Dennd5b T A 6: 148,922,068 (GRCm39) K815N probably benign Het
Exd1 A G 2: 119,350,620 (GRCm39) V547A probably benign Het
Fbxo15 C T 18: 84,977,243 (GRCm39) R52C probably damaging Het
Fip1l1 A G 5: 74,697,460 (GRCm39) probably null Het
Flg2 T A 3: 93,110,679 (GRCm39) N902K unknown Het
Fyttd1 T A 16: 32,704,618 (GRCm39) N76K probably benign Het
Gins1 T A 2: 150,758,086 (GRCm39) D57E probably benign Het
Gm5565 G C 5: 146,095,171 (GRCm39) probably null Het
Gpsm2 T C 3: 108,610,244 (GRCm39) Y72C probably damaging Het
Hace1 C A 10: 45,465,603 (GRCm39) S53* probably null Het
Insig2 A G 1: 121,234,666 (GRCm39) V188A possibly damaging Het
Ism1 T C 2: 139,598,963 (GRCm39) V312A probably damaging Het
Jmy A T 13: 93,609,251 (GRCm39) Y353N probably damaging Het
Maz A C 7: 126,624,725 (GRCm39) V265G probably benign Het
Mtmr14 T A 6: 113,246,509 (GRCm39) I426N probably damaging Het
Or1e34 C T 11: 73,779,101 (GRCm39) M32I probably benign Het
Or5b113 A G 19: 13,342,001 (GRCm39) E3G probably benign Het
Or8k22 A G 2: 86,163,344 (GRCm39) S119P possibly damaging Het
Pcdhac2 T A 18: 37,278,413 (GRCm39) N464K probably damaging Het
Pcdhb7 T A 18: 37,476,440 (GRCm39) H525Q probably benign Het
Pcp4l1 G A 1: 171,002,034 (GRCm39) A42V possibly damaging Het
Podn C T 4: 107,874,899 (GRCm39) probably null Het
Prim1 A G 10: 127,858,788 (GRCm39) D232G probably null Het
Prrt1 T A 17: 34,851,161 (GRCm39) M283K possibly damaging Het
Rgs9 A T 11: 109,167,407 (GRCm39) I65N probably damaging Het
Scgb2b26 C A 7: 33,643,782 (GRCm39) V53L probably benign Het
Shank2 C A 7: 143,965,422 (GRCm39) P1010Q probably benign Het
Slc12a4 C T 8: 106,682,347 (GRCm39) G121S probably damaging Het
Slc17a6 G T 7: 51,294,766 (GRCm39) A158S probably damaging Het
Slc9a9 C T 9: 94,594,951 (GRCm39) H154Y probably benign Het
Slco1a8 T C 6: 141,934,951 (GRCm39) K379E probably damaging Het
Slco2a1 T A 9: 102,962,948 (GRCm39) probably null Het
Taok2 A G 7: 126,470,260 (GRCm39) V856A probably benign Het
Tep1 T A 14: 51,103,495 (GRCm39) N265I probably damaging Het
Tespa1 A T 10: 130,197,910 (GRCm39) N311Y probably damaging Het
Tpmt G A 13: 47,194,960 (GRCm39) Q14* probably null Het
Trim33 T C 3: 103,228,952 (GRCm39) F353L possibly damaging Het
Upp1 T C 11: 9,084,743 (GRCm39) V154A probably damaging Het
Usp34 T C 11: 23,369,052 (GRCm39) I1747T Het
Vmn1r47 T C 6: 89,999,254 (GRCm39) S129P probably benign Het
Vmn2r93 A G 17: 18,524,249 (GRCm39) Y81C probably benign Het
Ybx2 A T 11: 69,831,181 (GRCm39) T259S probably benign Het
Zfp536 T C 7: 37,179,285 (GRCm39) T1107A probably benign Het
Zfp583 C T 7: 6,319,585 (GRCm39) A476T 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
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
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
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'- GGGCATTCCTCACTTTGAATTAGAC -3'
(R):5'- TACTGCAAAGTCAGCTACAAGC -3'

Sequencing Primer
(F):5'- CATTAGACCCAAGGTTGACTGGAGTC -3'
(R):5'- CAATGAACTCACAAATACATCTTGTC -3'
Posted On 2019-09-13