Incidental Mutation 'IGL03167:Glis1'
ID411692
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 #IGL03167
Quality Score
Status
Chromosome4
Chromosomal Location107434591-107635061 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 107435905 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 75 (D75G)
Ref Sequence ENSEMBL: ENSMUSP00000118600 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046005] [ENSMUST00000106738] [ENSMUST00000135835]
Predicted Effect probably benign
Transcript: ENSMUST00000046005
AA Change: D75G

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000035650
Gene: ENSMUSG00000034762
AA Change: D75G

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
SMART Domains Protein: ENSMUSP00000102349
Gene: ENSMUSG00000034762

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: ENSMUST00000130573
Predicted Effect possibly damaging
Transcript: ENSMUST00000135835
AA Change: D75G

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000118600
Gene: ENSMUSG00000034762
AA Change: D75G

DomainStartEndE-ValueType
low complexity region 50 62 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174982
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl3 A C 6: 34,857,659 K921T possibly damaging Het
Agtpbp1 A T 13: 59,532,080 probably benign Het
Ankrd22 A T 19: 34,165,774 M1K probably null Het
Ano5 G A 7: 51,585,511 V698I probably damaging Het
Ccnh A G 13: 85,197,566 probably benign Het
Col15a1 A T 4: 47,282,635 I771F probably damaging Het
Dmrt1 T C 19: 25,545,893 S203P possibly damaging Het
Exoc5 A T 14: 49,051,345 V82E probably damaging Het
Ffar3 A T 7: 30,855,355 V180E probably damaging Het
Fhad1 T C 4: 141,972,797 S381G probably benign Het
Foxf1 C A 8: 121,084,908 Y170* probably null Het
Gpr151 T C 18: 42,578,374 H413R probably benign Het
Gtf3c1 T C 7: 125,670,580 probably null Het
Htt T A 5: 34,818,986 F711I probably damaging Het
Il1rapl1 A G X: 86,747,261 I691T possibly damaging Het
Iqgap2 T C 13: 95,684,898 Y579C probably benign Het
Lingo3 A G 10: 80,835,344 S251P probably damaging Het
Mbl1 T A 14: 41,158,586 S144T probably benign Het
Musk A T 4: 58,366,821 R462W possibly damaging Het
Mynn T C 3: 30,609,042 L373P probably damaging Het
Myoz2 G A 3: 123,006,490 R230* probably null Het
Nup35 A G 2: 80,658,316 probably benign Het
Olfr1032 T A 2: 86,008,167 Y130* probably null Het
Olfr305 C T 7: 86,363,920 C139Y probably damaging Het
Olfr710 A G 7: 106,944,645 S119P probably damaging Het
Olfr987 C T 2: 85,331,320 D193N probably benign Het
Pira2 A T 7: 3,840,920 S618T probably damaging Het
Plch1 G A 3: 63,722,744 probably benign Het
Pparg T G 6: 115,473,227 F396V probably damaging Het
Scaper T C 9: 55,859,824 E441G probably damaging Het
Serpinb2 T A 1: 107,522,755 C161S probably benign Het
Skint5 C T 4: 113,893,850 E333K unknown Het
Slc22a8 C T 19: 8,609,958 P461S probably damaging Het
Slc38a6 C T 12: 73,350,537 Q318* probably null Het
Sycp2 T C 2: 178,379,498 K512E probably damaging Het
Tas2r103 T A 6: 133,036,660 N148Y probably damaging Het
Tcf7l1 A G 6: 72,632,996 M257T possibly damaging Het
Tert T A 13: 73,640,000 N792K probably damaging Het
Thada A T 17: 84,458,849 V43E probably damaging Het
Trabd2b T C 4: 114,609,998 S475P probably benign Het
Vmn2r117 A G 17: 23,477,707 V242A probably damaging Het
Ypel3 A T 7: 126,780,075 I107F probably damaging Het
Zfp352 T C 4: 90,224,702 S360P probably damaging Het
Other mutations in Glis1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02157:Glis1 APN 4 107627561 missense probably benign 0.01
IGL02450:Glis1 APN 4 107627529 missense probably benign 0.25
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 On2016-08-02