Incidental Mutation 'IGL02315:Skida1'
ID287997
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 #IGL02315
Quality Score
Status
Chromosome2
Chromosomal Location18040676-18049051 bp(-) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) T to C at 18046005 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000114785 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066885] [ENSMUST00000091420] [ENSMUST00000142856] [ENSMUST00000152908]
Predicted Effect unknown
Transcript: ENSMUST00000066885
AA Change: R692G
SMART Domains Protein: ENSMUSP00000068520
Gene: ENSMUSG00000054074
AA Change: R692G

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 unknown
Transcript: ENSMUST00000091420
AA Change: R779G
SMART Domains Protein: ENSMUSP00000088982
Gene: ENSMUSG00000054074
AA Change: R779G

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 benign
Transcript: ENSMUST00000142856
SMART Domains Protein: ENSMUSP00000122112
Gene: ENSMUSG00000054074

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 benign
Transcript: ENSMUST00000152908
SMART Domains Protein: ENSMUSP00000114785
Gene: ENSMUSG00000054074

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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402F06Rik T A 2: 35,376,173 I162F probably damaging Het
Akap8 T C 17: 32,305,501 D607G probably benign Het
Ap2b1 G A 11: 83,336,799 V327I probably damaging Het
Bmpr1b A G 3: 141,857,529 V218A probably damaging Het
Cfap157 T A 2: 32,778,165 D421V probably benign Het
Ctsm A G 13: 61,539,648 V100A probably benign Het
Cwf19l2 C T 9: 3,410,030 T53I probably damaging Het
Dst T C 1: 34,198,665 C3663R probably damaging Het
Fbxo10 T A 4: 45,062,469 H19L probably benign Het
Ghitm A T 14: 37,131,564 N106K probably benign Het
Hivep2 T C 10: 14,131,239 F1194L probably benign Het
Hpse2 A G 19: 42,966,947 probably benign Het
Ighv1-67 C T 12: 115,604,067 G56D probably benign Het
Ikzf4 A G 10: 128,634,145 F502S probably damaging Het
Lrrc24 A T 15: 76,718,306 F126L probably damaging Het
Mapt G A 11: 104,328,078 R355Q probably damaging Het
Mug1 T A 6: 121,840,167 V65E probably benign Het
Myh6 T C 14: 54,953,834 E850G probably damaging Het
Myh9 C A 15: 77,769,973 V1211L probably benign Het
Naip2 T A 13: 100,161,236 D764V probably damaging Het
Olfr926 G A 9: 38,878,057 V294I probably damaging Het
Parp6 A G 9: 59,641,738 probably benign Het
Ppp4r4 C T 12: 103,600,361 probably benign Het
Pramef6 T C 4: 143,897,928 probably benign Het
Pxylp1 A G 9: 96,839,143 L56P probably damaging Het
Rita1 C T 5: 120,609,793 A147T probably damaging Het
Slc35d2 A G 13: 64,107,035 S210P possibly damaging Het
Slit2 C T 5: 47,987,871 T71M probably damaging Het
Spem2 A T 11: 69,817,365 L258Q probably damaging Het
Stxbp2 C T 8: 3,635,607 probably benign Het
Vit G A 17: 78,622,658 V351I possibly damaging Het
Zwilch A G 9: 64,150,267 S285P probably damaging Het
Zzef1 A T 11: 72,875,257 R1537* probably null Het
Other mutations in Skida1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03220:Skida1 APN 2 18048161 missense probably damaging 1.00
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 On2015-04-16