Incidental Mutation 'R4658:Snapc1'
ID 352620
Institutional Source Beutler Lab
Gene Symbol Snapc1
Ensembl Gene ENSMUSG00000021113
Gene Name small nuclear RNA activating complex, polypeptide 1
Synonyms 2700033G17Rik, 9630050P21Rik
MMRRC Submission 041918-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4658 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 74011255-74035740 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 74030642 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 381 (T381A)
Ref Sequence ENSEMBL: ENSMUSP00000021532 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021532] [ENSMUST00000220882] [ENSMUST00000221556]
AlphaFold Q8K0S9
Predicted Effect possibly damaging
Transcript: ENSMUST00000021532
AA Change: T381A

PolyPhen 2 Score 0.747 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000021532
Gene: ENSMUSG00000021113
AA Change: T381A

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
Pfam:SNAPc_SNAP43 26 210 4.5e-65 PFAM
low complexity region 261 273 N/A INTRINSIC
low complexity region 307 316 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000220882
Predicted Effect probably benign
Transcript: ENSMUST00000220909
Predicted Effect probably benign
Transcript: ENSMUST00000221556
Meta Mutation Damage Score 0.1079 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.5%
Validation Efficiency 99% (88/89)
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb A T 5: 114,338,625 (GRCm39) R778S probably damaging Het
Adam17 A G 12: 21,382,161 (GRCm39) C567R probably damaging Het
Ankrd28 G A 14: 31,432,825 (GRCm39) A758V probably damaging Het
Atrn T C 2: 130,775,349 (GRCm39) Y151H probably damaging Het
B3gat3 A G 19: 8,902,996 (GRCm39) T118A possibly damaging Het
Camta1 A G 4: 151,228,367 (GRCm39) C822R probably damaging Het
Capn15 G T 17: 26,179,742 (GRCm39) Q807K probably benign Het
Clec12a T C 6: 129,331,493 (GRCm39) Y145H probably damaging Het
Clk1 T C 1: 58,452,146 (GRCm39) I393V probably benign Het
Cpm A G 10: 117,503,956 (GRCm39) I121V probably benign Het
Cux1 A G 5: 136,279,448 (GRCm39) I405T possibly damaging Het
Dnah3 A G 7: 119,549,874 (GRCm39) S3471P probably damaging Het
Dok6 A G 18: 89,491,971 (GRCm39) probably benign Het
Eif4g1 A T 16: 20,504,684 (GRCm39) D1124V possibly damaging Het
Eif4g3 A G 4: 137,933,443 (GRCm39) E1756G probably damaging Het
Exo5 A G 4: 120,779,748 (GRCm39) V39A probably benign Het
Fmnl1 A T 11: 103,088,520 (GRCm39) I90F probably damaging Het
Fryl G T 5: 73,238,396 (GRCm39) T1450K probably damaging Het
Gde1 T C 7: 118,293,751 (GRCm39) M91V probably benign Het
Gimd1 T C 3: 132,350,343 (GRCm39) I84T probably damaging Het
Gm13889 C T 2: 93,787,453 (GRCm39) probably benign Het
Gm6445 T A 19: 9,585,561 (GRCm39) noncoding transcript Het
Gm8113 T C 14: 44,169,867 (GRCm39) S483P probably damaging Het
Grik2 T C 10: 49,399,888 (GRCm39) I281V possibly damaging Het
Grik5 T C 7: 24,760,152 (GRCm39) probably benign Het
Herc1 A T 9: 66,386,773 (GRCm39) I3796F possibly damaging Het
Hoxb13 A T 11: 96,085,309 (GRCm39) D14V probably benign Het
Hspg2 A G 4: 137,261,041 (GRCm39) Y1645C probably damaging Het
Igkv8-16 G T 6: 70,363,762 (GRCm39) R87S probably damaging Het
Ints1 A T 5: 139,760,054 (GRCm39) V140E possibly damaging Het
Kbtbd11 C A 8: 15,078,917 (GRCm39) D505E possibly damaging Het
Kcnu1 G A 8: 26,427,583 (GRCm39) C300Y probably damaging Het
Kmt2d G C 15: 98,750,410 (GRCm39) probably benign Het
Lats1 T C 10: 7,578,493 (GRCm39) V539A probably benign Het
Lipo5 C T 19: 33,441,922 (GRCm39) G200D unknown Het
Lmo7 C A 14: 102,124,393 (GRCm39) A284D probably damaging Het
Lyst G A 13: 13,809,968 (GRCm39) R546H probably damaging Het
Mcpt8 T C 14: 56,321,285 (GRCm39) M60V possibly damaging Het
Mdn1 A G 4: 32,730,749 (GRCm39) probably null Het
Mphosph10 A G 7: 64,038,722 (GRCm39) probably null Het
Muc5b G A 7: 141,395,135 (GRCm39) S47N unknown Het
Notch3 A T 17: 32,373,737 (GRCm39) N490K probably damaging Het
Nr1d1 G A 11: 98,662,738 (GRCm39) S85L possibly damaging Het
Obscn T A 11: 58,945,114 (GRCm39) R4635* probably null Het
Or10al5 G T 17: 38,063,054 (GRCm39) C103F probably damaging Het
Or13f5 T C 4: 52,826,240 (GRCm39) L281P probably damaging Het
Or9i16 T C 19: 13,864,912 (GRCm39) I221V probably benign Het
Pappa G A 4: 65,233,033 (GRCm39) probably null Het
Pcdhb17 G A 18: 37,619,652 (GRCm39) G481S probably damaging Het
Pde1a TCC TC 2: 79,728,525 (GRCm39) probably benign Het
Phf3 A T 1: 30,902,169 (GRCm39) M48K probably damaging Het
Pira2 A T 7: 3,843,933 (GRCm39) V613E probably damaging Het
Poc1a T C 9: 106,226,887 (GRCm39) S327P possibly damaging Het
Ptpn9 A G 9: 56,927,321 (GRCm39) H66R probably benign Het
Rabgap1 C T 2: 37,377,561 (GRCm39) R353* probably null Het
Rcc1l G T 5: 134,200,729 (GRCm39) N134K probably damaging Het
Rims1 G A 1: 22,497,793 (GRCm39) T787I probably damaging Het
Rreb1 T G 13: 38,132,777 (GRCm39) S1651A probably damaging Het
Rsl1d1 T C 16: 11,019,238 (GRCm39) D100G probably damaging Het
Samd4 C T 14: 47,301,703 (GRCm39) R147C probably damaging Het
Serpinb6e T C 13: 34,025,299 (GRCm39) probably benign Het
Ska1 T C 18: 74,330,111 (GRCm39) I210V probably benign Het
Slc17a1 A G 13: 24,062,543 (GRCm39) I237V probably benign Het
Slc22a4 A T 11: 53,888,336 (GRCm39) S231T probably benign Het
Slc7a4 T A 16: 17,393,797 (GRCm39) M66L probably damaging Het
St6galnac2 C T 11: 116,575,351 (GRCm39) probably benign Het
Taar2 C T 10: 23,817,401 (GRCm39) L314F probably benign Het
Tmem74b A G 2: 151,548,561 (GRCm39) D96G probably damaging Het
Tnfrsf17 T C 16: 11,131,833 (GRCm39) F6S probably benign Het
Tpp2 G T 1: 43,993,870 (GRCm39) G252W probably damaging Het
Trf A G 9: 103,100,807 (GRCm39) F209L probably damaging Het
Ttn T C 2: 76,728,935 (GRCm39) probably benign Het
Uhmk1 A T 1: 170,034,774 (GRCm39) H311Q probably damaging Het
Unc13c G T 9: 73,840,108 (GRCm39) Q248K probably damaging Het
Uqcrc2 A G 7: 120,250,144 (GRCm39) Y253C probably damaging Het
Vmn2r117 A G 17: 23,697,390 (GRCm39) F101L probably benign Het
Vmn2r43 T C 7: 8,258,070 (GRCm39) N381S probably benign Het
Zfp879 T A 11: 50,724,024 (GRCm39) Y271F probably damaging Het
Other mutations in Snapc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00272:Snapc1 APN 12 74,015,148 (GRCm39) splice site probably null
IGL00529:Snapc1 APN 12 74,011,429 (GRCm39) missense probably benign 0.00
IGL00676:Snapc1 APN 12 74,018,687 (GRCm39) missense probably damaging 1.00
IGL01373:Snapc1 APN 12 74,011,454 (GRCm39) missense probably benign 0.00
IGL02060:Snapc1 APN 12 74,014,810 (GRCm39) missense probably damaging 1.00
IGL02309:Snapc1 APN 12 74,014,801 (GRCm39) missense probably damaging 1.00
IGL02653:Snapc1 APN 12 74,029,261 (GRCm39) missense probably benign 0.00
IGL02686:Snapc1 APN 12 74,011,370 (GRCm39) intron probably benign
IGL03160:Snapc1 APN 12 74,016,978 (GRCm39) missense probably damaging 1.00
PIT4362001:Snapc1 UTSW 12 74,029,269 (GRCm39) missense probably damaging 0.98
R0056:Snapc1 UTSW 12 74,021,806 (GRCm39) missense probably damaging 1.00
R0057:Snapc1 UTSW 12 74,021,806 (GRCm39) missense probably damaging 1.00
R0057:Snapc1 UTSW 12 74,021,806 (GRCm39) missense probably damaging 1.00
R0113:Snapc1 UTSW 12 74,021,806 (GRCm39) missense probably damaging 1.00
R0152:Snapc1 UTSW 12 74,021,806 (GRCm39) missense probably damaging 1.00
R0153:Snapc1 UTSW 12 74,021,806 (GRCm39) missense probably damaging 1.00
R0244:Snapc1 UTSW 12 74,021,806 (GRCm39) missense probably damaging 1.00
R0245:Snapc1 UTSW 12 74,021,806 (GRCm39) missense probably damaging 1.00
R0316:Snapc1 UTSW 12 74,021,806 (GRCm39) missense probably damaging 1.00
R0318:Snapc1 UTSW 12 74,021,806 (GRCm39) missense probably damaging 1.00
R0352:Snapc1 UTSW 12 74,021,806 (GRCm39) missense probably damaging 1.00
R0646:Snapc1 UTSW 12 74,021,806 (GRCm39) missense probably damaging 1.00
R0841:Snapc1 UTSW 12 74,021,780 (GRCm39) splice site probably benign
R2188:Snapc1 UTSW 12 74,017,001 (GRCm39) missense probably damaging 1.00
R2483:Snapc1 UTSW 12 74,011,417 (GRCm39) missense probably benign 0.02
R4165:Snapc1 UTSW 12 74,029,354 (GRCm39) critical splice donor site probably null
R4169:Snapc1 UTSW 12 74,029,265 (GRCm39) missense probably benign 0.00
R4549:Snapc1 UTSW 12 74,017,053 (GRCm39) missense probably damaging 0.97
R4550:Snapc1 UTSW 12 74,017,053 (GRCm39) missense probably damaging 0.97
R6976:Snapc1 UTSW 12 74,016,974 (GRCm39) missense probably damaging 1.00
R7432:Snapc1 UTSW 12 74,015,068 (GRCm39) missense probably benign 0.01
R7488:Snapc1 UTSW 12 74,029,285 (GRCm39) missense probably benign 0.39
R8507:Snapc1 UTSW 12 74,011,506 (GRCm39) missense probably damaging 1.00
R8809:Snapc1 UTSW 12 74,021,812 (GRCm39) missense probably benign 0.31
R9287:Snapc1 UTSW 12 74,018,773 (GRCm39) unclassified probably benign
R9685:Snapc1 UTSW 12 74,017,115 (GRCm39) critical splice donor site probably null
R9705:Snapc1 UTSW 12 74,015,150 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGAAATTCCGCATGTGTGTCAG -3'
(R):5'- TTACTCAACTCTTGGCCTATGG -3'

Sequencing Primer
(F):5'- GGCGCTATACTCTGAGATCAAGTC -3'
(R):5'- GCATGCTCTTCCATCTCACAGAAATG -3'
Posted On 2015-10-08