Incidental Mutation 'IGL01107:D17Wsu92e'
ID53069
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol D17Wsu92e
Ensembl Gene ENSMUSG00000056692
Gene NameDNA segment, Chr 17, Wayne State University 92, expressed
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01107
Quality Score
Status
Chromosome17
Chromosomal Location27751232-27820558 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to T at 27786069 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000110513 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075076] [ENSMUST00000114859] [ENSMUST00000114863]
Predicted Effect probably null
Transcript: ENSMUST00000075076
SMART Domains Protein: ENSMUSP00000074585
Gene: ENSMUSG00000056692

DomainStartEndE-ValueType
Pfam:UBA_4 25 68 1.6e-13 PFAM
Pfam:N_BRCA1_IG 80 179 1.6e-37 PFAM
low complexity region 257 276 N/A INTRINSIC
low complexity region 282 291 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000114859
SMART Domains Protein: ENSMUSP00000110509
Gene: ENSMUSG00000056692

DomainStartEndE-ValueType
Pfam:UBA_4 25 69 5.1e-15 PFAM
PDB:4OLE|D 74 180 2e-9 PDB
Predicted Effect probably null
Transcript: ENSMUST00000114863
SMART Domains Protein: ENSMUSP00000110513
Gene: ENSMUSG00000056692

DomainStartEndE-ValueType
Pfam:UBA_4 25 69 2.2e-14 PFAM
PDB:4OLE|D 74 180 8e-9 PDB
low complexity region 257 276 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000121414
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001O22Rik A T 2: 30,797,936 F215Y probably damaging Het
2700049A03Rik T C 12: 71,194,468 probably null Het
Akip1 C T 7: 109,711,838 T195M probably damaging Het
Arhgef16 T C 4: 154,280,244 N631S probably benign Het
Brat1 C T 5: 140,717,177 S544L probably damaging Het
Cfap65 C T 1: 74,919,183 probably null Het
Defa22 T A 8: 21,163,037 probably null Het
Dnajc4 C T 19: 6,989,501 R153H probably benign Het
Dusp11 A G 6: 85,952,370 probably benign Het
E2f4 T A 8: 105,304,177 probably benign Het
Ece1 T A 4: 137,938,658 L271Q probably damaging Het
Fcgrt T C 7: 45,093,328 D343G probably damaging Het
Igsf10 T C 3: 59,331,524 E412G probably damaging Het
Il4ra G T 7: 125,575,914 L431F possibly damaging Het
Krt86 T A 15: 101,475,425 L200Q probably damaging Het
Lpcat1 T A 13: 73,494,828 F126I probably damaging Het
Prag1 A G 8: 36,099,931 T79A probably benign Het
Pramef12 A T 4: 144,393,094 I301N probably benign Het
Psg29 G T 7: 17,204,925 L41F probably benign Het
Rai14 C T 15: 10,599,711 probably benign Het
Reg3a A G 6: 78,383,245 D136G probably benign Het
Rif1 A G 2: 52,111,303 T1590A probably benign Het
Rorb A T 19: 18,957,328 L300* probably null Het
Sin3b T C 8: 72,731,105 C150R possibly damaging Het
Smarcc1 C A 9: 110,221,937 H942N probably damaging Het
Tas2r105 A G 6: 131,687,111 V118A probably benign Het
Tmem131 T C 1: 36,829,581 S388G probably damaging Het
Ttll9 C A 2: 153,002,889 probably benign Het
Ush1c A G 7: 46,209,901 L498P probably damaging Het
Vmn2r100 A G 17: 19,521,356 Y110C probably damaging Het
Zbtb11 T C 16: 56,006,007 Y800H probably damaging Het
Zdhhc20 T A 14: 57,865,589 E101V probably damaging Het
Other mutations in D17Wsu92e
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00916:D17Wsu92e APN 17 27767919 missense probably damaging 1.00
IGL01805:D17Wsu92e APN 17 27767906 splice site probably benign
R0423:D17Wsu92e UTSW 17 27786233 missense probably damaging 1.00
R0833:D17Wsu92e UTSW 17 27786138 missense probably damaging 1.00
R0836:D17Wsu92e UTSW 17 27786138 missense probably damaging 1.00
R1055:D17Wsu92e UTSW 17 27767936 missense probably damaging 1.00
R1251:D17Wsu92e UTSW 17 27786070 critical splice donor site probably null
R1646:D17Wsu92e UTSW 17 27793960 missense probably damaging 1.00
R4022:D17Wsu92e UTSW 17 27786262 missense probably damaging 0.97
R4604:D17Wsu92e UTSW 17 27820315 missense probably damaging 1.00
R5360:D17Wsu92e UTSW 17 27794046 missense probably damaging 1.00
R6210:D17Wsu92e UTSW 17 27767986 missense probably benign 0.12
R7201:D17Wsu92e UTSW 17 27794070 splice site probably null
Posted On2013-06-21