Incidental Mutation 'IGL03220:Skida1'
ID413622
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Skida1
Ensembl Gene ENSMUSG00000054074
Gene NameSKI/DACH domain containing 1
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.135) question?
Stock #IGL03220
Quality Score
Status
Chromosome2
Chromosomal Location18040676-18049051 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 18048161 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 60 (D60G)
Ref Sequence ENSEMBL: ENSMUSP00000122112 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066885] [ENSMUST00000091420] [ENSMUST00000142856] [ENSMUST00000152908]
Predicted Effect probably damaging
Transcript: ENSMUST00000066885
AA Change: D60G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000068520
Gene: ENSMUSG00000054074
AA Change: D60G

DomainStartEndE-ValueType
Pfam:Ski_Sno 5 98 4.1e-19 PFAM
low complexity region 116 130 N/A INTRINSIC
low complexity region 152 167 N/A INTRINSIC
low complexity region 262 279 N/A INTRINSIC
low complexity region 282 297 N/A INTRINSIC
coiled coil region 315 337 N/A INTRINSIC
Pfam:DUF4584 383 820 9.7e-162 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000091420
AA Change: D60G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000088982
Gene: ENSMUSG00000054074
AA Change: D60G

DomainStartEndE-ValueType
Pfam:Ski_Sno 5 97 7.7e-17 PFAM
low complexity region 116 130 N/A INTRINSIC
low complexity region 152 167 N/A INTRINSIC
SCOP:d1gkub1 224 254 3e-3 SMART
SCOP:d1gkub1 296 321 6e-3 SMART
low complexity region 349 366 N/A INTRINSIC
low complexity region 369 384 N/A INTRINSIC
coiled coil region 402 424 N/A INTRINSIC
Pfam:DUF4584 471 907 7.7e-179 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000142856
AA Change: D60G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122112
Gene: ENSMUSG00000054074
AA Change: D60G

DomainStartEndE-ValueType
Pfam:Ski_Sno 5 98 4.4e-20 PFAM
low complexity region 116 130 N/A INTRINSIC
low complexity region 152 167 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000152908
AA Change: D60G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000114785
Gene: ENSMUSG00000054074
AA Change: D60G

DomainStartEndE-ValueType
Pfam:Ski_Sno 5 65 2.8e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173604
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahctf1 T A 1: 179,788,202 E368D probably benign Het
AI481877 G A 4: 59,082,378 Q417* probably null Het
Arid2 A T 15: 96,361,772 H271L probably damaging Het
Bsnd G T 4: 106,486,765 Q115K possibly damaging Het
Ceacam5 T A 7: 17,760,728 I887N probably damaging Het
Clrn2 T C 5: 45,463,728 F155L probably damaging Het
Col12a1 A G 9: 79,699,483 S553P probably damaging Het
Crnn C T 3: 93,149,367 H487Y possibly damaging Het
Ddi2 T C 4: 141,708,456 N90S probably benign Het
Deup1 T A 9: 15,592,411 I285L probably benign Het
Dlgap4 T C 2: 156,704,626 S405P probably damaging Het
Dnah11 A G 12: 118,105,985 F1560L probably benign Het
Dock1 T C 7: 135,108,522 probably null Het
Dst C A 1: 34,185,995 Q1161K probably damaging Het
Dus1l G T 11: 120,792,359 H280N probably damaging Het
Gm21985 C A 2: 112,357,484 H964N possibly damaging Het
Gzmd A T 14: 56,130,429 V129E probably damaging Het
Hmcn2 T A 2: 31,346,621 F392Y possibly damaging Het
Kdelr2 T A 5: 143,418,115 Y86* probably null Het
Kif26b T G 1: 178,864,869 C458W probably damaging Het
Lhpp G A 7: 132,650,291 V220I probably benign Het
Nfya T C 17: 48,400,493 N7S possibly damaging Het
Olfr1019 G T 2: 85,840,982 Q270K possibly damaging Het
Olfr1445 C T 19: 12,884,451 T190I possibly damaging Het
Olfr1449 A C 19: 12,935,494 Y252S probably damaging Het
Prkg1 A T 19: 30,569,237 probably benign Het
Prpf6 A G 2: 181,632,879 E383G probably damaging Het
Ptpn21 A T 12: 98,678,623 V1153E probably damaging Het
Ryr1 A T 7: 29,059,855 I3330N probably damaging Het
Sgk1 A G 10: 21,997,391 D252G probably null Het
Shcbp1l T C 1: 153,433,165 probably benign Het
Slc9a5 T A 8: 105,368,020 C748S probably benign Het
Smc4 A T 3: 69,009,542 Y163F possibly damaging Het
Spdya T C 17: 71,578,291 S247P possibly damaging Het
Sptb T C 12: 76,612,910 D1072G probably benign Het
St7l A T 3: 104,874,823 probably benign Het
Trmt1l T C 1: 151,440,941 probably benign Het
Tspan4 A G 7: 141,491,799 Y153C probably damaging Het
Ulk4 A T 9: 121,145,336 N944K probably damaging Het
Unc80 T C 1: 66,504,938 C407R probably damaging Het
Zfp563 T G 17: 33,104,687 S85R probably benign Het
Zp2 A C 7: 120,137,227 L331R possibly damaging Het
Other mutations in Skida1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02315:Skida1 APN 2 18046005 unclassified probably benign
R0328:Skida1 UTSW 2 18047186 unclassified probably benign
R0732:Skida1 UTSW 2 18046157 unclassified probably benign
R1239:Skida1 UTSW 2 18047317 unclassified probably benign
R1346:Skida1 UTSW 2 18048279 missense possibly damaging 0.92
R1597:Skida1 UTSW 2 18046332 unclassified probably benign
R1867:Skida1 UTSW 2 18046344 unclassified probably benign
R3797:Skida1 UTSW 2 18045897 nonsense probably null
R4521:Skida1 UTSW 2 18045872 unclassified probably benign
R5270:Skida1 UTSW 2 18047649 missense probably benign 0.03
R5467:Skida1 UTSW 2 18046112 unclassified probably benign
R5890:Skida1 UTSW 2 18046003 unclassified probably benign
R7181:Skida1 UTSW 2 18046791 missense unknown
R7398:Skida1 UTSW 2 18046272 missense unknown
R8103:Skida1 UTSW 2 18047738 missense probably benign 0.01
R8199:Skida1 UTSW 2 18048148 missense probably damaging 1.00
Posted On2016-08-02