Incidental Mutation 'IGL01958:Snapc4'
ID 181486
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Snapc4
Ensembl Gene ENSMUSG00000036281
Gene Name small nuclear RNA activating complex, polypeptide 4
Synonyms 5730436L13Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01958
Quality Score
Status
Chromosome 2
Chromosomal Location 26252777-26270665 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 26256452 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000035427] [ENSMUST00000114115]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000035427
SMART Domains Protein: ENSMUSP00000041767
Gene: ENSMUSG00000036281

DomainStartEndE-ValueType
low complexity region 33 52 N/A INTRINSIC
low complexity region 60 72 N/A INTRINSIC
coiled coil region 93 119 N/A INTRINSIC
low complexity region 200 212 N/A INTRINSIC
SANT 219 290 2.37e1 SMART
SANT 293 343 4.38e-10 SMART
SANT 345 397 3.05e-9 SMART
SANT 400 449 8.24e-15 SMART
SANT 452 501 7.8e-16 SMART
low complexity region 516 547 N/A INTRINSIC
Blast:SANT 550 753 1e-23 BLAST
low complexity region 893 909 N/A INTRINSIC
low complexity region 925 947 N/A INTRINSIC
low complexity region 971 983 N/A INTRINSIC
low complexity region 988 1007 N/A INTRINSIC
low complexity region 1157 1169 N/A INTRINSIC
low complexity region 1176 1190 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000114115
SMART Domains Protein: ENSMUSP00000109750
Gene: ENSMUSG00000036281

DomainStartEndE-ValueType
coiled coil region 3 29 N/A INTRINSIC
low complexity region 41 60 N/A INTRINSIC
low complexity region 68 80 N/A INTRINSIC
coiled coil region 101 127 N/A INTRINSIC
low complexity region 208 220 N/A INTRINSIC
SANT 227 298 2.37e1 SMART
SANT 301 351 4.38e-10 SMART
SANT 353 405 3.05e-9 SMART
SANT 408 457 8.24e-15 SMART
SANT 460 509 7.8e-16 SMART
low complexity region 524 555 N/A INTRINSIC
Blast:SANT 558 761 1e-23 BLAST
low complexity region 901 917 N/A INTRINSIC
low complexity region 933 955 N/A INTRINSIC
low complexity region 979 991 N/A INTRINSIC
low complexity region 996 1015 N/A INTRINSIC
low complexity region 1165 1177 N/A INTRINSIC
low complexity region 1184 1198 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000123934
SMART Domains Protein: ENSMUSP00000122456
Gene: ENSMUSG00000036281

DomainStartEndE-ValueType
SANT 47 99 3.05e-9 SMART
SANT 102 151 8.24e-15 SMART
SANT 154 203 7.8e-16 SMART
low complexity region 218 249 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125198
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125789
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133778
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149850
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136054
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135171
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149316
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137869
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150121
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148024
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the largest subunit of the small nuclear RNA-activating protein (SNAP) complex. The encoded protein contains a Myb DNA-binding domain, and is essential for RNA polymerase II and III polymerase transcription from small nuclear RNA promoters. A mutation in this gene is associated with ankylosing spondylitis. [provided by RefSeq, Jul 2016]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4732465J04Rik T C 10: 95,629,659 (GRCm39) I29T probably damaging Het
Agps G A 2: 75,740,045 (GRCm39) probably null Het
Agxt2 A G 15: 10,393,794 (GRCm39) probably null Het
Ahnak T C 19: 8,992,273 (GRCm39) V4519A possibly damaging Het
Aktip T C 8: 91,852,853 (GRCm39) D159G probably damaging Het
Ankrd44 T C 1: 54,806,125 (GRCm39) I94V probably damaging Het
Asph T C 4: 9,474,904 (GRCm39) E674G possibly damaging Het
Atat1 T A 17: 36,219,735 (GRCm39) probably benign Het
Ccar1 G A 10: 62,626,714 (GRCm39) A20V possibly damaging Het
Cdc26 T C 4: 62,321,001 (GRCm39) D14G probably damaging Het
Cdh15 T C 8: 123,586,089 (GRCm39) F156S probably damaging Het
Dctn1 A G 6: 83,168,326 (GRCm39) T525A possibly damaging Het
Dnah8 T G 17: 31,074,869 (GRCm39) probably benign Het
Dnajc10 T A 2: 80,151,648 (GRCm39) probably benign Het
Dtl C A 1: 191,300,489 (GRCm39) W125L probably damaging Het
Fam3c G A 6: 22,318,954 (GRCm39) T149I probably damaging Het
Fgd6 A G 10: 93,974,170 (GRCm39) T1304A probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm6578 A G 6: 12,099,766 (GRCm39) noncoding transcript Het
Gnai1 A G 5: 18,478,568 (GRCm39) F199S probably damaging Het
Grb7 T A 11: 98,345,480 (GRCm39) V480D probably damaging Het
Hdc A G 2: 126,436,452 (GRCm39) L473P possibly damaging Het
Hmcn1 T C 1: 150,479,622 (GRCm39) N4614S probably benign Het
Il20ra A G 10: 19,634,791 (GRCm39) D344G probably benign Het
Ints1 C T 5: 139,745,843 (GRCm39) R1342Q possibly damaging Het
Itga9 T A 9: 118,465,562 (GRCm39) probably benign Het
Kat14 T C 2: 144,236,285 (GRCm39) L339P probably damaging Het
Klhl22 A G 16: 17,594,326 (GRCm39) I152V probably benign Het
Krtap5-2 C A 7: 141,729,459 (GRCm39) G74* probably null Het
Lrrc59 C A 11: 94,529,354 (GRCm39) probably null Het
Map3k13 A G 16: 21,710,873 (GRCm39) Q52R probably benign Het
Mb21d2 A G 16: 28,646,495 (GRCm39) probably benign Het
Mphosph9 A T 5: 124,463,053 (GRCm39) probably benign Het
Myrf A G 19: 10,187,742 (GRCm39) probably benign Het
Nek11 T C 9: 105,177,502 (GRCm39) T250A probably benign Het
Nek5 A T 8: 22,586,842 (GRCm39) V323E probably benign Het
Nfasc A T 1: 132,536,176 (GRCm39) C586* probably null Het
Nup210l T A 3: 90,111,231 (GRCm39) L1711Q possibly damaging Het
Parp8 T G 13: 117,013,108 (GRCm39) K644Q probably benign Het
Pcnt G T 10: 76,269,513 (GRCm39) Q252K probably damaging Het
Pianp A G 6: 124,977,646 (GRCm39) T181A possibly damaging Het
Pkd1 T C 17: 24,799,298 (GRCm39) V2839A probably damaging Het
Poli C T 18: 70,659,657 (GRCm39) R58H possibly damaging Het
Ptk7 T C 17: 46,890,353 (GRCm39) D447G probably benign Het
Rapgef5 A G 12: 117,694,386 (GRCm39) I637V probably benign Het
Rasip1 A T 7: 45,286,188 (GRCm39) R804* probably null Het
Relt A G 7: 100,500,350 (GRCm39) V113A probably benign Het
Rnf215 G T 11: 4,090,317 (GRCm39) C345F probably damaging Het
Scart2 T C 7: 139,854,040 (GRCm39) C348R probably damaging Het
Scn2a A G 2: 65,532,173 (GRCm39) D595G probably damaging Het
Serpina3k G A 12: 104,307,316 (GRCm39) V183M probably damaging Het
Sparcl1 A T 5: 104,240,406 (GRCm39) D339E probably benign Het
Tg T C 15: 66,631,335 (GRCm39) F535L probably benign Het
Zbtb45 C A 7: 12,740,203 (GRCm39) A471S probably benign Het
Zfp106 T A 2: 120,365,288 (GRCm39) K373M probably benign Het
Other mutations in Snapc4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00162:Snapc4 APN 2 26,259,324 (GRCm39) missense probably benign
IGL01730:Snapc4 APN 2 26,253,736 (GRCm39) splice site probably null
IGL02354:Snapc4 APN 2 26,257,319 (GRCm39) unclassified probably benign
IGL02425:Snapc4 APN 2 26,258,212 (GRCm39) missense probably damaging 1.00
IGL02812:Snapc4 APN 2 26,259,384 (GRCm39) missense probably benign 0.03
IGL02951:Snapc4 APN 2 26,260,847 (GRCm39) missense probably benign 0.33
R0011:Snapc4 UTSW 2 26,254,825 (GRCm39) missense probably benign 0.03
R0409:Snapc4 UTSW 2 26,257,228 (GRCm39) missense probably benign 0.37
R0932:Snapc4 UTSW 2 26,264,658 (GRCm39) missense probably damaging 1.00
R1674:Snapc4 UTSW 2 26,266,209 (GRCm39) missense probably benign
R1878:Snapc4 UTSW 2 26,266,165 (GRCm39) critical splice donor site probably null
R3722:Snapc4 UTSW 2 26,255,440 (GRCm39) missense probably benign
R3886:Snapc4 UTSW 2 26,255,510 (GRCm39) nonsense probably null
R3887:Snapc4 UTSW 2 26,255,510 (GRCm39) nonsense probably null
R3888:Snapc4 UTSW 2 26,255,510 (GRCm39) nonsense probably null
R3889:Snapc4 UTSW 2 26,255,510 (GRCm39) nonsense probably null
R4638:Snapc4 UTSW 2 26,255,314 (GRCm39) missense probably damaging 1.00
R4663:Snapc4 UTSW 2 26,264,193 (GRCm39) missense possibly damaging 0.77
R4879:Snapc4 UTSW 2 26,256,004 (GRCm39) missense possibly damaging 0.93
R4922:Snapc4 UTSW 2 26,259,245 (GRCm39) missense probably benign
R5385:Snapc4 UTSW 2 26,264,515 (GRCm39) missense probably benign 0.44
R5525:Snapc4 UTSW 2 26,259,538 (GRCm39) small deletion probably benign
R5762:Snapc4 UTSW 2 26,268,618 (GRCm39) missense probably damaging 1.00
R5839:Snapc4 UTSW 2 26,255,546 (GRCm39) missense probably benign 0.01
R6300:Snapc4 UTSW 2 26,268,563 (GRCm39) missense probably benign 0.14
R6422:Snapc4 UTSW 2 26,258,315 (GRCm39) missense probably benign 0.00
R6843:Snapc4 UTSW 2 26,263,611 (GRCm39) missense probably benign 0.03
R7044:Snapc4 UTSW 2 26,259,965 (GRCm39) missense probably damaging 1.00
R7341:Snapc4 UTSW 2 26,259,273 (GRCm39) missense probably benign 0.01
R7727:Snapc4 UTSW 2 26,263,446 (GRCm39) missense probably damaging 1.00
R7941:Snapc4 UTSW 2 26,266,730 (GRCm39) missense probably damaging 0.98
R8277:Snapc4 UTSW 2 26,255,722 (GRCm39) missense probably benign 0.05
R8311:Snapc4 UTSW 2 26,268,546 (GRCm39) missense probably benign
R8323:Snapc4 UTSW 2 26,254,711 (GRCm39) missense probably benign 0.15
R8777:Snapc4 UTSW 2 26,259,375 (GRCm39) missense probably benign 0.00
R8777-TAIL:Snapc4 UTSW 2 26,259,375 (GRCm39) missense probably benign 0.00
R8855:Snapc4 UTSW 2 26,264,545 (GRCm39) missense probably damaging 1.00
R9069:Snapc4 UTSW 2 26,260,805 (GRCm39) nonsense probably null
R9362:Snapc4 UTSW 2 26,254,865 (GRCm39) missense probably damaging 0.99
R9718:Snapc4 UTSW 2 26,268,533 (GRCm39) missense probably damaging 1.00
R9780:Snapc4 UTSW 2 26,267,019 (GRCm39) missense possibly damaging 0.94
X0010:Snapc4 UTSW 2 26,259,973 (GRCm39) missense probably damaging 1.00
X0011:Snapc4 UTSW 2 26,259,973 (GRCm39) missense probably damaging 1.00
X0014:Snapc4 UTSW 2 26,259,973 (GRCm39) missense probably damaging 1.00
X0017:Snapc4 UTSW 2 26,259,973 (GRCm39) missense probably damaging 1.00
X0021:Snapc4 UTSW 2 26,259,973 (GRCm39) missense probably damaging 1.00
X0023:Snapc4 UTSW 2 26,259,973 (GRCm39) missense probably damaging 1.00
X0028:Snapc4 UTSW 2 26,259,973 (GRCm39) missense probably damaging 1.00
X0033:Snapc4 UTSW 2 26,259,973 (GRCm39) missense probably damaging 1.00
X0064:Snapc4 UTSW 2 26,259,973 (GRCm39) missense probably damaging 1.00
X0067:Snapc4 UTSW 2 26,259,973 (GRCm39) missense probably damaging 1.00
Z1176:Snapc4 UTSW 2 26,258,234 (GRCm39) missense probably damaging 1.00
Posted On 2014-05-07