Incidental Mutation 'IGL02951:Snapc4'
ID365974
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 #IGL02951
Quality Score
Status
Chromosome2
Chromosomal Location26362765-26380653 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 26370835 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 465 (N465K)
Ref Sequence ENSEMBL: ENSMUSP00000109750 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035427] [ENSMUST00000114115]
Predicted Effect probably benign
Transcript: ENSMUST00000035427
AA Change: N457K

PolyPhen 2 Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000041767
Gene: ENSMUSG00000036281
AA Change: N457K

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
AA Change: N465K

PolyPhen 2 Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000109750
Gene: ENSMUSG00000036281
AA Change: N465K

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 unknown
Transcript: ENSMUST00000123934
AA Change: N158K
SMART Domains Protein: ENSMUSP00000122456
Gene: ENSMUSG00000036281
AA Change: N158K

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: ENSMUST00000136054
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137869
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144871
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610028H24Rik C A 10: 76,454,702 probably benign Het
Acot10 G A 15: 20,665,782 T291I probably benign Het
Atp13a3 A G 16: 30,338,621 probably null Het
Atp2a1 C T 7: 126,450,227 V548M possibly damaging Het
Bsn G A 9: 108,115,613 S980L probably damaging Het
Ccdc158 A G 5: 92,650,006 M425T probably damaging Het
Cdh23 A G 10: 60,311,364 L2733S probably damaging Het
Chd3 C T 11: 69,361,048 probably null Het
Dock2 T C 11: 34,310,448 probably benign Het
Elfn2 T C 15: 78,671,882 K822E probably damaging Het
Eps15l1 G A 8: 72,358,396 S764L probably benign Het
Etl4 C A 2: 20,801,537 probably benign Het
Faap24 C A 7: 35,392,951 K180N probably damaging Het
Fam205a1 C T 4: 42,850,696 E487K probably benign Het
Fhod1 G A 8: 105,331,230 R888W probably damaging Het
Fus T C 7: 127,981,837 probably benign Het
Gm3453 T C 14: 5,976,168 E201G possibly damaging Het
Gm5346 T G 8: 43,627,088 H33P possibly damaging Het
Gnpat G T 8: 124,870,905 D69Y probably benign Het
Gpaa1 T A 15: 76,332,819 probably benign Het
Gsta1 A T 9: 78,242,537 K211* probably null Het
Lct G T 1: 128,300,211 Q1182K probably damaging Het
Mroh1 T C 15: 76,427,636 L523P probably damaging Het
Mrpl46 A G 7: 78,775,452 probably benign Het
Mst1r G T 9: 107,908,204 V354F possibly damaging Het
Myo15b A G 11: 115,881,301 D299G probably damaging Het
Myo6 G A 9: 80,264,234 V506I possibly damaging Het
Nadk A C 4: 155,587,476 K271Q probably benign Het
Nbas A G 12: 13,362,541 R954G probably benign Het
Nbr1 T A 11: 101,571,979 probably null Het
Nup88 T C 11: 70,944,872 D587G possibly damaging Het
Oas1a A T 5: 120,905,664 F135Y probably damaging Het
Obscn A G 11: 58,994,513 probably benign Het
Odf3l2 T C 10: 79,639,977 N251S probably benign Het
Olfr1290 T G 2: 111,490,120 I13L probably benign Het
Parp14 G A 16: 35,858,533 T355I probably benign Het
Pdgfd G T 9: 6,288,494 L43F probably damaging Het
Pou5f2 T C 13: 78,025,118 S60P probably benign Het
Prp2 A G 6: 132,599,825 N25S unknown Het
Ptprq A T 10: 107,667,460 F779Y probably benign Het
Rims2 C T 15: 39,534,938 R1078C probably damaging Het
Rnf38 G T 4: 44,129,619 S425* probably null Het
Rps21 T A 2: 180,258,047 I59N probably damaging Het
Scn5a A T 9: 119,495,685 F1359Y probably damaging Het
Slc35b2 A G 17: 45,564,768 E67G probably damaging Het
Slc37a2 A G 9: 37,255,315 F15L probably benign Het
Stxbp2 A T 8: 3,641,971 I538F probably benign Het
Taco1 A G 11: 106,069,527 N98S probably benign Het
Tcea3 T C 4: 136,257,988 probably null Het
Thada T C 17: 84,444,028 S507G probably benign Het
Tmem132b T A 5: 125,787,547 C906S probably damaging Het
Trpm2 A T 10: 77,929,278 I963N possibly damaging Het
Usp10 A G 8: 119,947,086 T397A probably benign Het
Usp3 G A 9: 66,542,550 R160* probably null Het
Utp15 T C 13: 98,257,952 Y144C probably damaging Het
Xpc G A 6: 91,506,849 R172W probably damaging 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
IGL01958:Snapc4 APN 2 26366440 unclassified probably benign
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
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
R8777:Snapc4 UTSW 2 26369363 missense probably benign 0.00
R8777-TAIL:Snapc4 UTSW 2 26369363 missense probably benign 0.00
R8855:Snapc4 UTSW 2 26374533 missense probably damaging 1.00
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 On2015-12-18