Incidental Mutation 'IGL01958:Snapc4'
ID181486
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Snapc4
Ensembl Gene ENSMUSG00000036281
Gene Namesmall nuclear RNA activating complex, polypeptide 4
Synonyms5730436L13Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01958
Quality Score
Status
Chromosome2
Chromosomal Location26362765-26380653 bp(-) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) T to C at 26366440 bp
ZygosityHeterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000035427] [ENSMUST00000114115]
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: ENSMUST00000135171
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136054
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137869
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148024
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149316
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149850
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150121
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: 95,793,797 I29T probably damaging Het
5830411N06Rik T C 7: 140,274,127 C348R probably damaging Het
Agps G A 2: 75,909,701 probably null Het
Agxt2 A G 15: 10,393,708 probably null Het
Ahnak T C 19: 9,014,909 V4519A possibly damaging Het
Aktip T C 8: 91,126,225 D159G probably damaging Het
Ankrd44 T C 1: 54,766,966 I94V probably damaging Het
Asph T C 4: 9,474,904 E674G possibly damaging Het
Atat1 T A 17: 35,908,843 probably benign Het
Ccar1 G A 10: 62,790,935 A20V possibly damaging Het
Cdc26 T C 4: 62,402,764 D14G probably damaging Het
Cdh15 T C 8: 122,859,350 F156S probably damaging Het
Dctn1 A G 6: 83,191,344 T525A possibly damaging Het
Dnah8 T G 17: 30,855,895 probably benign Het
Dnajc10 T A 2: 80,321,304 probably benign Het
Dtl C A 1: 191,568,377 W125L probably damaging Het
Fam3c G A 6: 22,318,955 T149I probably damaging Het
Fgd6 A G 10: 94,138,308 T1304A probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm6578 A G 6: 12,099,767 noncoding transcript Het
Gnai1 A G 5: 18,273,570 F199S probably damaging Het
Grb7 T A 11: 98,454,654 V480D probably damaging Het
Hdc A G 2: 126,594,532 L473P possibly damaging Het
Hmcn1 T C 1: 150,603,871 N4614S probably benign Het
Il20ra A G 10: 19,759,043 D344G probably benign Het
Ints1 C T 5: 139,760,088 R1342Q possibly damaging Het
Itga9 T A 9: 118,636,494 probably benign Het
Kat14 T C 2: 144,394,365 L339P probably damaging Het
Klhl22 A G 16: 17,776,462 I152V probably benign Het
Krtap5-2 C A 7: 142,175,722 G74* probably null Het
Lrrc59 C A 11: 94,638,528 probably null Het
Map3k13 A G 16: 21,892,123 Q52R probably benign Het
Mb21d2 A G 16: 28,827,743 probably benign Het
Mphosph9 A T 5: 124,324,990 probably benign Het
Myrf A G 19: 10,210,378 probably benign Het
Nek11 T C 9: 105,300,303 T250A probably benign Het
Nek5 A T 8: 22,096,826 V323E probably benign Het
Nfasc A T 1: 132,608,438 C586* probably null Het
Nup210l T A 3: 90,203,924 L1711Q possibly damaging Het
Parp8 T G 13: 116,876,572 K644Q probably benign Het
Pcnt G T 10: 76,433,679 Q252K probably damaging Het
Pianp A G 6: 125,000,683 T181A possibly damaging Het
Pkd1 T C 17: 24,580,324 V2839A probably damaging Het
Poli C T 18: 70,526,586 R58H possibly damaging Het
Ptk7 T C 17: 46,579,427 D447G probably benign Het
Rapgef5 A G 12: 117,730,651 I637V probably benign Het
Rasip1 A T 7: 45,636,764 R804* probably null Het
Relt A G 7: 100,851,143 V113A probably benign Het
Rnf215 G T 11: 4,140,317 C345F probably damaging Het
Scn2a A G 2: 65,701,829 D595G probably damaging Het
Serpina3k G A 12: 104,341,057 V183M probably damaging Het
Sparcl1 A T 5: 104,092,540 D339E probably benign Het
Tg T C 15: 66,759,486 F535L probably benign Het
Zbtb45 C A 7: 13,006,276 A471S probably benign Het
Zfp106 T A 2: 120,534,807 K373M probably benign Het
Other mutations in Snapc4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00162:Snapc4 APN 2 26369312 missense probably benign
IGL01730:Snapc4 APN 2 26363724 splice site probably null
IGL02354:Snapc4 APN 2 26367307 unclassified probably benign
IGL02425:Snapc4 APN 2 26368200 missense probably damaging 1.00
IGL02812:Snapc4 APN 2 26369372 missense probably benign 0.03
IGL02951:Snapc4 APN 2 26370835 missense probably benign 0.33
R0011:Snapc4 UTSW 2 26364813 missense probably benign 0.03
R0409:Snapc4 UTSW 2 26367216 missense probably benign 0.37
R0932:Snapc4 UTSW 2 26374646 missense probably damaging 1.00
R1674:Snapc4 UTSW 2 26376197 missense probably benign
R1878:Snapc4 UTSW 2 26376153 critical splice donor site probably null
R3722:Snapc4 UTSW 2 26365428 missense probably benign
R3886:Snapc4 UTSW 2 26365498 nonsense probably null
R3887:Snapc4 UTSW 2 26365498 nonsense probably null
R3888:Snapc4 UTSW 2 26365498 nonsense probably null
R3889:Snapc4 UTSW 2 26365498 nonsense probably null
R4638:Snapc4 UTSW 2 26365302 missense probably damaging 1.00
R4663:Snapc4 UTSW 2 26374181 missense possibly damaging 0.77
R4879:Snapc4 UTSW 2 26365992 missense possibly damaging 0.93
R4922:Snapc4 UTSW 2 26369233 missense probably benign
R5385:Snapc4 UTSW 2 26374503 missense probably benign 0.44
R5525:Snapc4 UTSW 2 26369526 small deletion probably benign
R5762:Snapc4 UTSW 2 26378606 missense probably damaging 1.00
R5839:Snapc4 UTSW 2 26365534 missense probably benign 0.01
R6300:Snapc4 UTSW 2 26378551 missense probably benign 0.14
R6422:Snapc4 UTSW 2 26368303 missense probably benign 0.00
R6843:Snapc4 UTSW 2 26373599 missense probably benign 0.03
R7044:Snapc4 UTSW 2 26369953 missense probably damaging 1.00
R7341:Snapc4 UTSW 2 26369261 missense probably benign 0.01
R7727:Snapc4 UTSW 2 26373434 missense probably damaging 1.00
R7941:Snapc4 UTSW 2 26376718 missense probably damaging 0.98
R8277:Snapc4 UTSW 2 26365710 missense probably benign 0.05
R8311:Snapc4 UTSW 2 26378534 missense probably benign
R8323:Snapc4 UTSW 2 26364699 missense probably benign 0.15
X0010:Snapc4 UTSW 2 26369961 missense probably damaging 1.00
X0011:Snapc4 UTSW 2 26369961 missense probably damaging 1.00
X0014:Snapc4 UTSW 2 26369961 missense probably damaging 1.00
X0017:Snapc4 UTSW 2 26369961 missense probably damaging 1.00
X0021:Snapc4 UTSW 2 26369961 missense probably damaging 1.00
X0023:Snapc4 UTSW 2 26369961 missense probably damaging 1.00
X0028:Snapc4 UTSW 2 26369961 missense probably damaging 1.00
X0033:Snapc4 UTSW 2 26369961 missense probably damaging 1.00
X0064:Snapc4 UTSW 2 26369961 missense probably damaging 1.00
X0067:Snapc4 UTSW 2 26369961 missense probably damaging 1.00
Z1176:Snapc4 UTSW 2 26368222 missense probably damaging 1.00
Posted On2014-05-07