Incidental Mutation 'IGL02904:Glis3'
ID363759
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Glis3
Ensembl Gene ENSMUSG00000052942
Gene NameGLIS family zinc finger 3
SynonymsE330013K21Rik, 4833409N03Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.452) question?
Stock #IGL02904
Quality Score
Status
Chromosome19
Chromosomal Location28258851-28680077 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 28357952 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 571 (F571L)
Ref Sequence ENSEMBL: ENSMUSP00000108231 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065113] [ENSMUST00000112612] [ENSMUST00000162022]
Predicted Effect probably benign
Transcript: ENSMUST00000065113
SMART Domains Protein: ENSMUSP00000066953
Gene: ENSMUSG00000052942

DomainStartEndE-ValueType
low complexity region 35 53 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000112612
AA Change: F571L

PolyPhen 2 Score 0.578 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000108231
Gene: ENSMUSG00000052942
AA Change: F571L

DomainStartEndE-ValueType
low complexity region 35 53 N/A INTRINSIC
low complexity region 203 222 N/A INTRINSIC
low complexity region 438 476 N/A INTRINSIC
ZnF_C2H2 500 525 1.07e0 SMART
ZnF_C2H2 534 561 6.13e-1 SMART
ZnF_C2H2 567 591 3.89e-3 SMART
ZnF_C2H2 597 621 1.45e-2 SMART
ZnF_C2H2 627 651 9.08e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161026
Predicted Effect possibly damaging
Transcript: ENSMUST00000162022
AA Change: F571L

PolyPhen 2 Score 0.527 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000124635
Gene: ENSMUSG00000052942
AA Change: F571L

DomainStartEndE-ValueType
low complexity region 35 53 N/A INTRINSIC
low complexity region 203 222 N/A INTRINSIC
low complexity region 438 476 N/A INTRINSIC
ZnF_C2H2 500 525 1.07e0 SMART
ZnF_C2H2 534 561 6.13e-1 SMART
ZnF_C2H2 567 591 3.89e-3 SMART
ZnF_C2H2 597 621 1.45e-2 SMART
ZnF_C2H2 627 651 9.08e-4 SMART
low complexity region 700 709 N/A INTRINSIC
low complexity region 722 746 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene is a member of the GLI-similar zinc finger protein family and encodes a nuclear protein which contains multiple C2H2-type zinc finger domains. This protein functions as both a repressor and activator of transcription and is specifically involved in the transcriptional regulation of insulin. It is thought to enhance GLI-RE-dependent transcription by binding to the GLI-RE consensus sequence (GACCACCCAC). Mutations in a similar gene in human have been associated with neonatal diabetes and congenital hypothyroidism (NDH). Alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2015]
PHENOTYPE: Mice homozygous for knock-out alleles exhibit postnatal lethality associated with neonatal diabetes and polycystic kidney disease. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik T C 13: 119,484,454 S564P probably damaging Het
A1cf A C 19: 31,934,806 K432N probably damaging Het
Acp7 A T 7: 28,608,003 D476E probably benign Het
Aqp9 T A 9: 71,138,148 I60F probably damaging Het
B2m A C 2: 122,151,161 probably benign Het
B3galt1 T A 2: 68,118,745 V268E probably damaging Het
BC037034 C T 5: 138,260,602 V232I probably benign Het
Cacna1a T C 8: 84,579,520 L1299P probably damaging Het
Ces2e C T 8: 104,931,338 P356L probably benign Het
Crmp1 A T 5: 37,288,918 K639N possibly damaging Het
Ddx17 G A 15: 79,530,437 R510* probably null Het
Dner C T 1: 84,534,944 V301M probably damaging Het
Efr3b T G 12: 3,984,583 I196L probably damaging Het
Fat1 T C 8: 45,040,682 V3955A probably damaging Het
Gid4 T C 11: 60,417,735 I27T probably benign Het
Gm4950 T C 18: 51,865,731 I51V probably benign Het
Gm5592 T C 7: 41,288,386 L364P probably damaging Het
Gm884 A C 11: 103,616,361 probably benign Het
Gucy2d G A 7: 98,462,189 probably null Het
Kpna6 A G 4: 129,650,687 I411T probably benign Het
Lcn11 A G 2: 25,779,266 D145G probably null Het
Med12 A G X: 101,294,178 probably null Het
Mtor A G 4: 148,452,394 K42E possibly damaging Het
Mtor A G 4: 148,491,612 probably benign Het
Mybpc2 T C 7: 44,522,341 D55G probably benign Het
Myo1f T A 17: 33,585,658 C445* probably null Het
Naca C T 10: 128,043,290 probably benign Het
Nlgn2 T C 11: 69,825,840 Y625C possibly damaging Het
Nlrp9c A T 7: 26,375,290 C827S probably damaging Het
Nudt12 T A 17: 59,010,352 N100I probably benign Het
Olfr1009 T C 2: 85,721,755 S117P probably damaging Het
Olfr224 T A 11: 58,566,797 T183S possibly damaging Het
Olfr284 A T 15: 98,340,848 L31Q probably null Het
Olfr77 A T 9: 19,921,097 D296V probably damaging Het
Picalm G A 7: 90,176,411 probably benign Het
Pkd1l1 A G 11: 8,868,450 probably benign Het
Scube3 T C 17: 28,167,600 V831A probably benign Het
Slco5a1 A G 1: 12,921,097 I456T probably damaging Het
Snx3 A G 10: 42,534,694 H110R probably damaging Het
Spef2 T C 15: 9,679,346 D635G probably damaging Het
St3gal5 A T 6: 72,147,124 I212L possibly damaging Het
Syvn1 T A 19: 6,049,815 Y192* probably null Het
Tmem2 G A 19: 21,823,843 D775N possibly damaging Het
Tmtc1 A G 6: 148,249,482 probably benign Het
Trip11 T G 12: 101,886,838 E499D probably damaging Het
Ttn A T 2: 76,732,031 N28823K probably damaging Het
Unc13c C A 9: 73,481,067 G2146* probably null Het
Ush2a G T 1: 188,906,506 V4038L probably benign Het
Zc3h7a T G 16: 11,150,666 D483A probably damaging Het
Zfyve19 T C 2: 119,210,472 probably benign Het
Other mutations in Glis3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00334:Glis3 APN 19 28540264 missense probably damaging 1.00
IGL02240:Glis3 APN 19 28531525 missense probably damaging 1.00
IGL02347:Glis3 APN 19 28531883 missense probably benign
glee UTSW 19 28262677 utr 3 prime probably benign
R0071:Glis3 UTSW 19 28263855 splice site probably benign
R0071:Glis3 UTSW 19 28263855 splice site probably benign
R0106:Glis3 UTSW 19 28531868 missense possibly damaging 0.67
R0106:Glis3 UTSW 19 28531868 missense possibly damaging 0.67
R0399:Glis3 UTSW 19 28298768 splice site probably benign
R1462:Glis3 UTSW 19 28262518 utr 3 prime probably benign
R1901:Glis3 UTSW 19 28531585 missense probably damaging 1.00
R1976:Glis3 UTSW 19 28262677 utr 3 prime probably benign
R1982:Glis3 UTSW 19 28531274 missense probably damaging 1.00
R2155:Glis3 UTSW 19 28531302 missense probably benign 0.16
R3723:Glis3 UTSW 19 28262591 nonsense probably null
R4496:Glis3 UTSW 19 28666127 missense possibly damaging 0.90
R4921:Glis3 UTSW 19 28666104 missense probably damaging 1.00
R5088:Glis3 UTSW 19 28531579 missense probably benign 0.00
R5241:Glis3 UTSW 19 28350023 missense probably benign 0.02
R5557:Glis3 UTSW 19 28264009 missense probably benign 0.00
R6226:Glis3 UTSW 19 28317302 missense probably damaging 1.00
R6309:Glis3 UTSW 19 28317361 missense probably benign 0.24
R6488:Glis3 UTSW 19 28298853 missense probably benign 0.13
R7069:Glis3 UTSW 19 28531519 missense probably damaging 1.00
R7260:Glis3 UTSW 19 28531402 missense probably benign
R7313:Glis3 UTSW 19 28531019 missense probably damaging 1.00
R7320:Glis3 UTSW 19 28531598 missense probably damaging 1.00
R7767:Glis3 UTSW 19 28263960 missense probably benign 0.18
R7839:Glis3 UTSW 19 28317373 missense possibly damaging 0.81
R7922:Glis3 UTSW 19 28317373 missense possibly damaging 0.81
T0970:Glis3 UTSW 19 28530932 missense probably damaging 1.00
Z1176:Glis3 UTSW 19 28283768 missense possibly damaging 0.90
Posted On2015-12-18