Incidental Mutation 'R0245:Snapc1'
ID 36189
Institutional Source Beutler Lab
Gene Symbol Snapc1
Ensembl Gene ENSMUSG00000021113
Gene Name small nuclear RNA activating complex, polypeptide 1
Synonyms 2700033G17Rik, 9630050P21Rik
MMRRC Submission 038483-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0245 (G1)
Quality Score 155
Status Validated
Chromosome 12
Chromosomal Location 74011255-74035740 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 74021806 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 81 (R81C)
Ref Sequence ENSEMBL: ENSMUSP00000152248 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021532] [ENSMUST00000220882] [ENSMUST00000221556]
AlphaFold Q8K0S9
Predicted Effect probably damaging
Transcript: ENSMUST00000021532
AA Change: R302C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021532
Gene: ENSMUSG00000021113
AA Change: R302C

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 damaging
Transcript: ENSMUST00000220882
AA Change: R81C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect unknown
Transcript: ENSMUST00000220909
AA Change: R48C
Predicted Effect probably benign
Transcript: ENSMUST00000221556
Meta Mutation Damage Score 0.2723 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.6%
  • 10x: 96.7%
  • 20x: 93.9%
Validation Efficiency 99% (73/74)
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022B05Rik A G 8: 125,378,168 (GRCm39) probably benign Het
Actmap T A 7: 26,900,028 (GRCm39) C98S possibly damaging Het
Adgrg6 T A 10: 14,333,810 (GRCm39) probably benign Het
Adra2a G C 19: 54,035,840 (GRCm39) V399L probably damaging Het
Arpc1b A G 5: 145,063,670 (GRCm39) D306G probably damaging Het
Asic3 C A 5: 24,618,836 (GRCm39) R43S probably damaging Het
Astn2 T C 4: 65,712,795 (GRCm39) D615G probably damaging Het
Btbd2 A T 10: 80,483,640 (GRCm39) Y178N probably damaging Het
Cacna1c T C 6: 118,581,415 (GRCm39) N1647D probably benign Het
Cacna2d4 A T 6: 119,285,682 (GRCm39) D803V probably damaging Het
Cdh26 C T 2: 178,123,425 (GRCm39) R675C possibly damaging Het
Cdx2 C A 5: 147,243,283 (GRCm39) K170N possibly damaging Het
Cmpk2 A T 12: 26,519,517 (GRCm39) D56V probably benign Het
Dnah7a T C 1: 53,540,685 (GRCm39) Y2563C probably damaging Het
Dock7 T C 4: 98,943,586 (GRCm39) D552G possibly damaging Het
E2f7 C A 10: 110,610,656 (GRCm39) S427* probably null Het
Eps8 T C 6: 137,456,126 (GRCm39) D785G probably benign Het
Ereg G A 5: 91,222,659 (GRCm39) C14Y possibly damaging Het
Fah A C 7: 84,244,706 (GRCm39) H222Q probably benign Het
Fbxw16 T A 9: 109,265,236 (GRCm39) S432C possibly damaging Het
Fdps A G 3: 89,001,078 (GRCm39) S334P possibly damaging Het
Fgf7 A G 2: 125,877,875 (GRCm39) K81E probably benign Het
Gfra1 T C 19: 58,288,986 (GRCm39) N153S possibly damaging Het
Golga1 A G 2: 38,925,271 (GRCm39) V351A probably benign Het
Got1 A T 19: 43,492,946 (GRCm39) probably benign Het
Greb1 T C 12: 16,746,457 (GRCm39) Y1271C probably damaging Het
Gtf3c4 A G 2: 28,724,976 (GRCm39) I252T possibly damaging Het
Gucy1a1 A G 3: 82,016,094 (GRCm39) I298T possibly damaging Het
Hivep1 A G 13: 42,317,766 (GRCm39) I2081V possibly damaging Het
Hps3 A T 3: 20,066,960 (GRCm39) C535* probably null Het
Hspg2 T C 4: 137,242,033 (GRCm39) F589S probably damaging Het
Itgb8 T A 12: 119,154,290 (GRCm39) N249I probably damaging Het
Itprid1 A G 6: 55,874,992 (GRCm39) E314G probably damaging Het
Kdm4a T C 4: 118,032,886 (GRCm39) D60G probably benign Het
Kng2 A T 16: 22,830,931 (GRCm39) probably benign Het
Marchf4 A T 1: 72,573,940 (GRCm39) D119E probably benign Het
Mrpl34 T C 8: 71,917,719 (GRCm39) probably benign Het
Ncoa6 C T 2: 155,233,131 (GRCm39) G2059D probably benign Het
Nhsl1 A G 10: 18,400,856 (GRCm39) K660R probably damaging Het
Nr2c2ap T C 8: 70,584,228 (GRCm39) V6A possibly damaging Het
Or10j3b T A 1: 173,043,524 (GRCm39) I102N possibly damaging Het
Or4c29 C A 2: 88,740,219 (GRCm39) D173Y possibly damaging Het
Or4k52 A G 2: 111,610,680 (GRCm39) N5S probably damaging Het
Or5k14 A T 16: 58,693,229 (GRCm39) Y95N probably benign Het
Or7g33 C A 9: 19,448,408 (GRCm39) V273L probably benign Het
Oscar C T 7: 3,614,573 (GRCm39) probably benign Het
Pkhd1 T C 1: 20,610,624 (GRCm39) S1046G probably benign Het
Ptk6 T C 2: 180,844,284 (GRCm39) D5G probably benign Het
Rgs12 A G 5: 35,187,424 (GRCm39) H486R probably benign Het
Rnf111 C T 9: 70,361,113 (GRCm39) probably benign Het
Rnf17 A G 14: 56,676,066 (GRCm39) Y309C probably damaging Het
Rnf19a A T 15: 36,253,178 (GRCm39) I387N probably damaging Het
Safb C T 17: 56,913,025 (GRCm39) R914C probably damaging Het
Sdk1 A G 5: 141,940,713 (GRCm39) T494A probably benign Het
Serac1 G T 17: 6,102,031 (GRCm39) D384E probably damaging Het
Sez6l T C 5: 112,623,432 (GRCm39) M40V probably benign Het
Slc17a5 A G 9: 78,448,206 (GRCm39) I416T probably benign Het
Spata32 C T 11: 103,099,921 (GRCm39) A195T probably damaging Het
Srrd A G 5: 112,485,394 (GRCm39) probably benign Het
Srsf3-ps T A 11: 98,516,067 (GRCm39) probably benign Het
Supt3 T C 17: 45,347,662 (GRCm39) V208A probably benign Het
Taok3 G A 5: 117,390,744 (GRCm39) probably benign Het
Tbxas1 G T 6: 39,004,702 (GRCm39) R316S probably benign Het
Tgfbrap1 A T 1: 43,114,752 (GRCm39) I116N possibly damaging Het
Tm7sf3 T C 6: 146,520,107 (GRCm39) T260A possibly damaging Het
Top2a T C 11: 98,900,922 (GRCm39) I556V probably benign Het
Uroc1 A G 6: 90,321,179 (GRCm39) M252V probably damaging Het
Xpo4 G T 14: 57,867,697 (GRCm39) H183Q probably damaging Het
Zcchc17 T A 4: 130,230,947 (GRCm39) I81L probably benign Het
Zfp455 A T 13: 67,355,899 (GRCm39) Y389F 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
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
R4658:Snapc1 UTSW 12 74,030,642 (GRCm39) missense possibly damaging 0.75
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'- CAGGAATCTGGCGGTACAGTTACG -3'
(R):5'- AGGGTCTCTTTCAGCAACAAGAGC -3'

Sequencing Primer
(F):5'- GCTCTGTCCTCAGACCATTT -3'
(R):5'- taccccccaaccaaccc -3'
Posted On 2013-05-09