Incidental Mutation 'IGL01730:Snapc4'
ID 105440
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 # IGL01730
Quality Score
Status
Chromosome 2
Chromosomal Location 26252777-26270665 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 26253736 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000097876 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028294] [ENSMUST00000035427] [ENSMUST00000100303] [ENSMUST00000114115]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000028294
SMART Domains Protein: ENSMUSP00000028294
Gene: ENSMUSG00000026928

DomainStartEndE-ValueType
Pfam:CARD 11 97 3.1e-21 PFAM
coiled coil region 145 272 N/A INTRINSIC
coiled coil region 375 415 N/A INTRINSIC
low complexity region 482 494 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000035427
AA Change: D1304E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000041767
Gene: ENSMUSG00000036281
AA Change: D1304E

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 null
Transcript: ENSMUST00000100303
SMART Domains Protein: ENSMUSP00000097876
Gene: ENSMUSG00000026928

DomainStartEndE-ValueType
Pfam:CARD 11 97 7.1e-22 PFAM
coiled coil region 145 272 N/A INTRINSIC
coiled coil region 375 415 N/A INTRINSIC
low complexity region 482 494 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000114115
AA Change: D1312E

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000109750
Gene: ENSMUSG00000036281
AA Change: D1312E

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 noncoding transcript
Transcript: ENSMUST00000125198
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135171
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149850
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137869
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136054
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afap1 A G 5: 36,119,583 (GRCm39) E287G probably damaging Het
Bhmt A T 13: 93,761,917 (GRCm39) V122E probably damaging Het
Camta1 A G 4: 151,147,302 (GRCm39) I585T probably damaging Het
Cfap221 A G 1: 119,861,841 (GRCm39) S645P probably benign Het
Derl1 A T 15: 57,755,543 (GRCm39) F50Y possibly damaging Het
Dhrs3 T C 4: 144,646,042 (GRCm39) S117P probably damaging Het
E2f8 A T 7: 48,527,682 (GRCm39) probably benign Het
Fbn1 A T 2: 125,154,894 (GRCm39) probably benign Het
Fbxo15 A G 18: 84,982,299 (GRCm39) I250M probably benign Het
Ghr A T 15: 3,350,066 (GRCm39) S371T probably damaging Het
Gm5884 A T 6: 128,622,669 (GRCm39) noncoding transcript Het
Grhl2 T C 15: 37,338,018 (GRCm39) V496A probably benign Het
Gsap A G 5: 21,495,152 (GRCm39) probably benign Het
Irak3 T C 10: 120,014,005 (GRCm39) D148G probably benign Het
Itga2 A T 13: 114,990,947 (GRCm39) probably benign Het
Kif13b T C 14: 64,987,810 (GRCm39) probably null Het
Kif20b A T 19: 34,927,923 (GRCm39) K1022* probably null Het
Klhl17 G T 4: 156,316,157 (GRCm39) S399* probably null Het
Lcp2 A T 11: 34,000,943 (GRCm39) D42V possibly damaging Het
Lin7c G T 2: 109,726,785 (GRCm39) G145* probably null Het
Lrba A G 3: 86,648,731 (GRCm39) D2493G possibly damaging Het
Mobp A G 9: 119,996,992 (GRCm39) D41G probably damaging Het
Mycbp2 G A 14: 103,372,640 (GRCm39) Q785* probably null Het
Myl6b T C 10: 128,332,211 (GRCm39) Y85C possibly damaging Het
Nup133 G T 8: 124,664,972 (GRCm39) H240N probably benign Het
Or5b12 A C 19: 12,896,926 (GRCm39) F249C probably damaging Het
Plk4 T C 3: 40,760,285 (GRCm39) S394P probably benign Het
Prepl A G 17: 85,388,603 (GRCm39) Y167H possibly damaging Het
Prkab1 A G 5: 116,159,551 (GRCm39) L105P probably damaging Het
Ryr2 T A 13: 11,616,728 (GRCm39) I3897L possibly damaging Het
Sema3c A G 5: 17,916,434 (GRCm39) S469G probably benign Het
Serpinb3c T A 1: 107,200,914 (GRCm39) S168C probably damaging Het
Sorcs2 A T 5: 36,205,153 (GRCm39) M528K probably damaging Het
Spink10 T A 18: 62,784,816 (GRCm39) probably null Het
Tent5b A T 4: 133,213,833 (GRCm39) probably null Het
Thsd7a C A 6: 12,554,980 (GRCm39) Q301H probably benign Het
Tmem135 A T 7: 88,797,252 (GRCm39) F335I possibly damaging Het
Tshr A T 12: 91,486,077 (GRCm39) D217V possibly damaging Het
Ttyh1 G A 7: 4,128,720 (GRCm39) V206M possibly damaging Het
Tusc3 T G 8: 39,617,880 (GRCm39) *348G probably null Het
Vmn2r76 G A 7: 85,879,406 (GRCm39) T298I probably benign Het
Wdr47 T C 3: 108,518,712 (GRCm39) F67L probably damaging Het
Other mutations in Snapc4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00162:Snapc4 APN 2 26,259,324 (GRCm39) missense probably benign
IGL01958:Snapc4 APN 2 26,256,452 (GRCm39) unclassified probably benign
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 2014-01-21