Incidental Mutation 'IGL02157:Glis1'
ID282273
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Glis1
Ensembl Gene ENSMUSG00000034762
Gene NameGLIS family zinc finger 1
SynonymsGliH1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02157
Quality Score
Status
Chromosome4
Chromosomal Location107434591-107635061 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 107627561 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 418 (T418A)
Ref Sequence ENSEMBL: ENSMUSP00000102349 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046005] [ENSMUST00000106738]
Predicted Effect probably benign
Transcript: ENSMUST00000046005
AA Change: T606A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000035650
Gene: ENSMUSG00000034762
AA Change: T606A

DomainStartEndE-ValueType
low complexity region 50 62 N/A INTRINSIC
low complexity region 118 129 N/A INTRINSIC
low complexity region 242 255 N/A INTRINSIC
low complexity region 274 288 N/A INTRINSIC
low complexity region 334 357 N/A INTRINSIC
ZnF_C2H2 366 391 3.99e0 SMART
ZnF_C2H2 400 427 4.12e0 SMART
ZnF_C2H2 433 457 7.78e-3 SMART
ZnF_C2H2 463 487 1.45e-2 SMART
ZnF_C2H2 493 517 5.59e-4 SMART
low complexity region 543 557 N/A INTRINSIC
low complexity region 635 658 N/A INTRINSIC
low complexity region 666 686 N/A INTRINSIC
low complexity region 721 735 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106738
AA Change: T418A

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000102349
Gene: ENSMUSG00000034762
AA Change: T418A

DomainStartEndE-ValueType
low complexity region 54 67 N/A INTRINSIC
low complexity region 86 100 N/A INTRINSIC
low complexity region 146 169 N/A INTRINSIC
ZnF_C2H2 178 203 3.99e0 SMART
ZnF_C2H2 212 239 4.12e0 SMART
ZnF_C2H2 245 269 7.78e-3 SMART
ZnF_C2H2 275 299 1.45e-2 SMART
ZnF_C2H2 305 329 5.59e-4 SMART
low complexity region 355 369 N/A INTRINSIC
low complexity region 447 470 N/A INTRINSIC
low complexity region 478 498 N/A INTRINSIC
low complexity region 533 547 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125573
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138211
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] GLIS1 is a GLI (MIM 165220)-related Kruppel-like zinc finger protein that functions as an activator and repressor of transcription (Kim et al., 2002 [PubMed 12042312]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Homozygous mice do not exhibit any overt abnormalities, including behavior, kidney or tooth morphology, up to 6 months of age. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b T C 5: 8,805,487 probably benign Het
Amotl1 A T 9: 14,571,715 probably benign Het
Amph A T 13: 19,104,231 T297S possibly damaging Het
Arhgap31 A G 16: 38,623,901 V198A probably damaging Het
Bop1 T C 15: 76,455,572 D216G possibly damaging Het
Cdh13 T C 8: 118,505,671 I38T possibly damaging Het
Clmn T C 12: 104,781,918 T457A probably benign Het
Clstn2 A C 9: 97,541,875 M279R probably benign Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Fam83h A T 15: 76,005,055 V208E probably damaging Het
Fer A G 17: 64,138,899 N785S probably benign Het
Fnip1 T C 11: 54,487,763 L225P probably damaging Het
Gbp11 C T 5: 105,327,508 V325M possibly damaging Het
Gm13088 A T 4: 143,654,377 C359S probably damaging Het
Hook2 C T 8: 85,001,150 probably benign Het
Hoxa6 C A 6: 52,208,191 C145F possibly damaging Het
Lyst G A 13: 13,660,956 C1741Y probably benign Het
Mbd5 T C 2: 49,278,975 V1156A probably benign Het
Mettl7b T G 10: 128,960,617 T108P possibly damaging Het
Mon2 G A 10: 123,013,472 P1308S probably damaging Het
Mta2 T A 19: 8,947,249 probably benign Het
Nup188 T A 2: 30,329,373 L867* probably null Het
Oca2 G A 7: 56,324,797 probably null Het
Olfr535 T A 7: 140,492,934 C99S probably damaging Het
Olfr794 A G 10: 129,571,150 E165G probably damaging Het
Olfr857 T A 9: 19,713,289 V154E probably benign Het
Plekhh2 A G 17: 84,566,942 probably benign Het
Rhbdd3 T C 11: 5,105,424 probably benign Het
Timeless T A 10: 128,242,386 V255E probably benign Het
Trh A T 6: 92,242,967 S123T probably benign Het
Ugdh C T 5: 65,422,692 A252T probably damaging Het
Zfp619 A G 7: 39,534,864 Y106C probably damaging Het
Zic5 G A 14: 122,459,512 P564S unknown Het
Other mutations in Glis1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02450:Glis1 APN 4 107627529 missense probably benign 0.25
IGL03167:Glis1 APN 4 107435905 missense possibly damaging 0.90
IGL03189:Glis1 APN 4 107615051 missense probably damaging 1.00
IGL03377:Glis1 APN 4 107632281 missense probably damaging 0.98
glenys UTSW 4 107627543 missense possibly damaging 0.91
R0551:Glis1 UTSW 4 107568119 unclassified probably null
R0981:Glis1 UTSW 4 107615042 missense probably damaging 1.00
R1036:Glis1 UTSW 4 107632264 missense probably benign 0.05
R1527:Glis1 UTSW 4 107567926 missense probably damaging 0.96
R1741:Glis1 UTSW 4 107568347 missense probably damaging 1.00
R2937:Glis1 UTSW 4 107632291 missense possibly damaging 0.89
R2938:Glis1 UTSW 4 107632291 missense possibly damaging 0.89
R4223:Glis1 UTSW 4 107567845 missense probably benign 0.01
R4412:Glis1 UTSW 4 107634718 missense probably damaging 0.99
R4587:Glis1 UTSW 4 107627543 missense possibly damaging 0.91
R4685:Glis1 UTSW 4 107567645 missense probably benign 0.00
R4900:Glis1 UTSW 4 107619564 missense probably damaging 1.00
R5138:Glis1 UTSW 4 107623105 frame shift probably null
R5167:Glis1 UTSW 4 107634694 missense probably damaging 1.00
R5511:Glis1 UTSW 4 107435877 missense probably damaging 0.99
R5568:Glis1 UTSW 4 107619635 missense probably damaging 0.99
R5807:Glis1 UTSW 4 107568082 missense probably benign 0.00
R6006:Glis1 UTSW 4 107567906 missense probably damaging 1.00
R6180:Glis1 UTSW 4 107627513 missense probably benign 0.06
R6219:Glis1 UTSW 4 107631905 missense probably benign 0.27
R6856:Glis1 UTSW 4 107435879 missense probably damaging 0.96
R7278:Glis1 UTSW 4 107435683 start codon destroyed probably null 0.53
R7877:Glis1 UTSW 4 107634703 missense probably damaging 1.00
R7960:Glis1 UTSW 4 107634703 missense probably damaging 1.00
Posted On2015-04-16