Incidental Mutation 'R0330:Gli3'
ID 65181
Institutional Source Beutler Lab
Gene Symbol Gli3
Ensembl Gene ENSMUSG00000021318
Gene Name GLI-Kruppel family member GLI3
Synonyms Bph, brachyphalangy
MMRRC Submission 038539-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0330 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 15638308-15904611 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 15898143 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Arginine at position 741 (L741R)
Ref Sequence ENSEMBL: ENSMUSP00000106137 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110510]
AlphaFold Q61602
Predicted Effect probably damaging
Transcript: ENSMUST00000110510
AA Change: L741R

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000106137
Gene: ENSMUSG00000021318
AA Change: L741R

DomainStartEndE-ValueType
low complexity region 120 136 N/A INTRINSIC
low complexity region 204 220 N/A INTRINSIC
low complexity region 324 341 N/A INTRINSIC
low complexity region 403 421 N/A INTRINSIC
ZnF_C2H2 480 505 1.53e-1 SMART
ZnF_C2H2 513 540 1.23e0 SMART
ZnF_C2H2 546 570 3.16e-3 SMART
ZnF_C2H2 576 601 4.17e-3 SMART
ZnF_C2H2 607 632 1.4e-4 SMART
low complexity region 703 726 N/A INTRINSIC
low complexity region 756 763 N/A INTRINSIC
low complexity region 849 880 N/A INTRINSIC
low complexity region 934 944 N/A INTRINSIC
low complexity region 1024 1038 N/A INTRINSIC
low complexity region 1081 1095 N/A INTRINSIC
low complexity region 1166 1175 N/A INTRINSIC
Meta Mutation Damage Score 0.2216 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.7%
  • 10x: 94.7%
  • 20x: 88.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which belongs to the C2H2-type zinc finger proteins subclass of the Gli family. They are characterized as DNA-binding transcription factors and are mediators of Sonic hedgehog (Shh) signaling. The protein encoded by this gene localizes in the cytoplasm and activates patched Drosophila homolog (PTCH) gene expression. It is also thought to play a role during embryogenesis. Mutations in this gene have been associated with several diseases, including Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, preaxial polydactyly type IV, and postaxial polydactyly types A1 and B. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutants die perinatally with gross polydactyly, multiple craniofacial defects, and frequently, exencephaly. Heterozygotes exhibit enlarged interfrontal bone and extra preaxial digits. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaa1b T C 9: 118,983,038 (GRCm39) N120S probably damaging Het
Acsbg3 A T 17: 57,190,631 (GRCm39) I400F probably benign Het
Acvr1c T C 2: 58,174,850 (GRCm39) T313A probably damaging Het
Adamtsl3 A T 7: 82,171,198 (GRCm39) D417V probably damaging Het
Adgrf4 A T 17: 42,978,204 (GRCm39) C380S probably damaging Het
AI597479 T G 1: 43,150,277 (GRCm39) L129R probably benign Het
AI661453 G A 17: 47,757,571 (GRCm39) R76Q probably damaging Het
Anpep C T 7: 79,488,004 (GRCm39) E518K probably benign Het
Anxa7 A C 14: 20,519,566 (GRCm39) probably null Het
Arhgap12 T A 18: 6,039,382 (GRCm39) D455V probably damaging Het
Arhgap22 A G 14: 33,091,374 (GRCm39) R650G possibly damaging Het
Arhgef12 A C 9: 42,931,982 (GRCm39) H168Q probably damaging Het
Arhgef2 A G 3: 88,549,808 (GRCm39) H592R probably damaging Het
BC049715 A G 6: 136,817,035 (GRCm39) T92A possibly damaging Het
Bcr C T 10: 75,017,466 (GRCm39) T1209I possibly damaging Het
Bmpr1a C T 14: 34,151,734 (GRCm39) S185N probably benign Het
Calcoco1 A T 15: 102,624,198 (GRCm39) M246K probably benign Het
Capn8 T A 1: 182,457,703 (GRCm39) I689N probably benign Het
Ccno T A 13: 113,126,530 (GRCm39) L333Q probably damaging Het
Cep57 G A 9: 13,728,281 (GRCm39) R148W probably damaging Het
Cftr T A 6: 18,226,096 (GRCm39) M318K probably null Het
Chd3 T G 11: 69,247,159 (GRCm39) D1003A probably damaging Het
Ckmt2 T A 13: 92,011,322 (GRCm39) D96V possibly damaging Het
Cldn13 A G 5: 134,944,176 (GRCm39) V3A probably benign Het
Col17a1 T C 19: 47,658,871 (GRCm39) T413A probably benign Het
Cpne5 A T 17: 29,430,634 (GRCm39) L92H probably damaging Het
Dnaaf2 C A 12: 69,244,518 (GRCm39) R181L probably damaging Het
Erbin C A 13: 104,005,373 (GRCm39) C114F probably damaging Het
Fads2b T A 2: 85,348,895 (GRCm39) R72S probably benign Het
Fanca A T 8: 124,000,911 (GRCm39) C1156* probably null Het
Flot2 T A 11: 77,949,784 (GRCm39) I322N possibly damaging Het
Fstl5 T C 3: 76,615,060 (GRCm39) V707A possibly damaging Het
Gmip G T 8: 70,263,468 (GRCm39) S70I probably benign Het
Gnptab T C 10: 88,276,171 (GRCm39) S1153P probably damaging Het
Gramd1a T C 7: 30,837,679 (GRCm39) D360G possibly damaging Het
Gtf2i T C 5: 134,280,740 (GRCm39) E518G probably damaging Het
Hsp90b1 T C 10: 86,530,019 (GRCm39) E226G probably damaging Het
Impg2 A G 16: 56,072,627 (GRCm39) Y353C probably damaging Het
Kank1 A G 19: 25,401,677 (GRCm39) K1095E probably benign Het
Kcnh4 C T 11: 100,648,569 (GRCm39) C45Y probably damaging Het
Kif13b A G 14: 65,040,669 (GRCm39) T1590A probably benign Het
Lpin3 T C 2: 160,747,225 (GRCm39) V827A probably benign Het
Lrp1b A T 2: 40,591,773 (GRCm39) C73* probably null Het
Mcm8 A G 2: 132,661,914 (GRCm39) K83E possibly damaging Het
Med12l A G 3: 59,135,123 (GRCm39) E757G probably damaging Het
Mep1a A G 17: 43,808,789 (GRCm39) probably null Het
Mtor T A 4: 148,568,837 (GRCm39) V1119E probably benign Het
Mybpc2 C T 7: 44,158,453 (GRCm39) A710T possibly damaging Het
Myof A C 19: 37,924,326 (GRCm39) I1297S probably damaging Het
Nacad A G 11: 6,550,903 (GRCm39) S763P probably benign Het
Nbea A G 3: 55,550,238 (GRCm39) V2730A probably benign Het
Nbeal1 A G 1: 60,307,222 (GRCm39) Y1684C probably damaging Het
Optn A T 2: 5,039,066 (GRCm39) N352K possibly damaging Het
Or10k2 A G 8: 84,268,142 (GRCm39) Y123C probably damaging Het
Or2g1 A T 17: 38,106,880 (GRCm39) M182L probably benign Het
Or7g16 A G 9: 18,726,937 (GRCm39) Y218H probably damaging Het
Or9g4b T A 2: 85,616,147 (GRCm39) C97* probably null Het
Pcif1 G T 2: 164,731,364 (GRCm39) R466L probably damaging Het
Phxr2 T C 10: 98,961,979 (GRCm39) probably benign Het
Plaat5 T A 19: 7,614,663 (GRCm39) probably null Het
Plb1 T A 5: 32,512,701 (GRCm39) F1353Y probably damaging Het
Plec A G 15: 76,075,618 (GRCm39) probably null Het
Polr1a T A 6: 71,943,400 (GRCm39) C1212S possibly damaging Het
Primpol A T 8: 47,063,496 (GRCm39) N53K probably damaging Het
Pygo2 T A 3: 89,340,461 (GRCm39) N286K possibly damaging Het
Rttn G A 18: 89,004,204 (GRCm39) probably null Het
Serpinb3b G T 1: 107,087,433 (GRCm39) N25K probably damaging Het
Sidt2 A G 9: 45,866,200 (GRCm39) I2T probably benign Het
Slc12a3 A T 8: 95,072,974 (GRCm39) N699I possibly damaging Het
Slc25a30 G A 14: 76,000,112 (GRCm39) Q285* probably null Het
Slc4a9 A T 18: 36,668,592 (GRCm39) H724L probably damaging Het
Ssbp2 T A 13: 91,828,698 (GRCm39) probably null Het
Stac3 C A 10: 127,343,616 (GRCm39) probably null Het
Stk32a A G 18: 43,446,566 (GRCm39) K339E probably benign Het
Stoml2 A G 4: 43,030,238 (GRCm39) probably null Het
Syne2 G T 12: 76,013,727 (GRCm39) G2974C probably benign Het
Tbc1d16 A G 11: 119,049,555 (GRCm39) probably null Het
Tfdp2 T G 9: 96,188,946 (GRCm39) F200V probably damaging Het
Tie1 C A 4: 118,341,924 (GRCm39) R175L probably benign Het
Trappc12 A G 12: 28,797,259 (GRCm39) V91A probably benign Het
Trim46 G T 3: 89,143,820 (GRCm39) P536Q probably damaging Het
Tshz3 T A 7: 36,469,458 (GRCm39) D482E probably benign Het
Tspan33 T C 6: 29,711,091 (GRCm39) probably null Het
Unc80 T C 1: 66,713,246 (GRCm39) L2788P possibly damaging Het
Utp20 T A 10: 88,653,841 (GRCm39) T260S probably benign Het
Vmn2r118 G T 17: 55,917,717 (GRCm39) T265K probably damaging Het
Vmn2r98 A C 17: 19,286,609 (GRCm39) H369P probably benign Het
Vps39 A T 2: 120,169,268 (GRCm39) Y245N possibly damaging Het
Vps4a A C 8: 107,769,698 (GRCm39) I336L probably benign Het
Xylb T C 9: 119,210,653 (GRCm39) S379P probably damaging Het
Zbtb37 T C 1: 160,860,066 (GRCm39) T80A probably benign Het
Zfhx3 A G 8: 109,675,589 (GRCm39) D2213G probably damaging Het
Zfp729a G T 13: 67,768,473 (GRCm39) H585Q probably damaging Het
Zfp804b A T 5: 6,821,029 (GRCm39) I642N possibly damaging Het
Zfp804b A T 5: 6,821,994 (GRCm39) N356K possibly damaging Het
Other mutations in Gli3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00417:Gli3 APN 13 15,818,884 (GRCm39) missense probably damaging 1.00
IGL00471:Gli3 APN 13 15,898,354 (GRCm39) critical splice donor site probably null
IGL00484:Gli3 APN 13 15,818,977 (GRCm39) missense possibly damaging 0.84
IGL00588:Gli3 APN 13 15,818,977 (GRCm39) missense possibly damaging 0.84
IGL01161:Gli3 APN 13 15,722,983 (GRCm39) critical splice acceptor site probably null
IGL01633:Gli3 APN 13 15,823,219 (GRCm39) missense probably damaging 1.00
IGL01799:Gli3 APN 13 15,900,746 (GRCm39) missense probably benign 0.00
IGL01861:Gli3 APN 13 15,899,910 (GRCm39) missense probably damaging 1.00
IGL02063:Gli3 APN 13 15,900,957 (GRCm39) missense possibly damaging 0.94
IGL02112:Gli3 APN 13 15,837,099 (GRCm39) missense probably damaging 1.00
IGL02255:Gli3 APN 13 15,823,304 (GRCm39) missense probably damaging 1.00
IGL02270:Gli3 APN 13 15,901,371 (GRCm39) utr 3 prime probably benign
IGL02336:Gli3 APN 13 15,894,874 (GRCm39) missense probably damaging 1.00
IGL02346:Gli3 APN 13 15,898,278 (GRCm39) missense probably damaging 1.00
IGL02744:Gli3 APN 13 15,788,471 (GRCm39) critical splice donor site probably null
IGL02877:Gli3 APN 13 15,899,327 (GRCm39) missense probably damaging 1.00
IGL02975:Gli3 APN 13 15,899,153 (GRCm39) missense probably damaging 1.00
IGL03018:Gli3 APN 13 15,834,717 (GRCm39) missense probably damaging 1.00
IGL03378:Gli3 APN 13 15,819,005 (GRCm39) missense probably damaging 1.00
IGL03406:Gli3 APN 13 15,823,166 (GRCm39) missense probably damaging 1.00
Capone UTSW 13 15,889,619 (GRCm39) missense probably damaging 1.00
Carpals UTSW 13 15,888,235 (GRCm39) critical splice donor site probably null
Ness UTSW 13 15,898,140 (GRCm39) missense probably damaging 1.00
FR4737:Gli3 UTSW 13 15,818,942 (GRCm39) missense probably damaging 1.00
R0110:Gli3 UTSW 13 15,899,370 (GRCm39) missense probably damaging 1.00
R0329:Gli3 UTSW 13 15,898,143 (GRCm39) missense probably damaging 0.98
R0360:Gli3 UTSW 13 15,899,349 (GRCm39) missense probably benign 0.32
R0364:Gli3 UTSW 13 15,899,349 (GRCm39) missense probably benign 0.32
R0469:Gli3 UTSW 13 15,899,370 (GRCm39) missense probably damaging 1.00
R0616:Gli3 UTSW 13 15,836,991 (GRCm39) missense possibly damaging 0.75
R0639:Gli3 UTSW 13 15,899,300 (GRCm39) missense probably damaging 1.00
R1072:Gli3 UTSW 13 15,888,190 (GRCm39) missense probably damaging 1.00
R1257:Gli3 UTSW 13 15,900,581 (GRCm39) nonsense probably null
R1270:Gli3 UTSW 13 15,898,329 (GRCm39) missense probably benign 0.02
R1424:Gli3 UTSW 13 15,900,899 (GRCm39) missense probably benign 0.00
R1481:Gli3 UTSW 13 15,788,435 (GRCm39) missense probably damaging 0.99
R1596:Gli3 UTSW 13 15,900,056 (GRCm39) missense possibly damaging 0.74
R1628:Gli3 UTSW 13 15,900,897 (GRCm39) missense probably benign 0.00
R1721:Gli3 UTSW 13 15,900,882 (GRCm39) missense probably benign 0.27
R1797:Gli3 UTSW 13 15,888,097 (GRCm39) missense probably damaging 0.99
R1813:Gli3 UTSW 13 15,823,276 (GRCm39) missense probably damaging 1.00
R1819:Gli3 UTSW 13 15,900,377 (GRCm39) nonsense probably null
R1988:Gli3 UTSW 13 15,900,965 (GRCm39) missense probably benign
R2132:Gli3 UTSW 13 15,900,134 (GRCm39) missense possibly damaging 0.74
R2352:Gli3 UTSW 13 15,836,977 (GRCm39) missense probably benign 0.02
R3085:Gli3 UTSW 13 15,835,526 (GRCm39) missense probably damaging 1.00
R3177:Gli3 UTSW 13 15,900,567 (GRCm39) missense probably benign 0.28
R3277:Gli3 UTSW 13 15,900,567 (GRCm39) missense probably benign 0.28
R4162:Gli3 UTSW 13 15,899,700 (GRCm39) missense possibly damaging 0.93
R4497:Gli3 UTSW 13 15,898,156 (GRCm39) missense possibly damaging 0.74
R4526:Gli3 UTSW 13 15,888,216 (GRCm39) missense probably damaging 1.00
R4979:Gli3 UTSW 13 15,899,049 (GRCm39) missense possibly damaging 0.87
R5327:Gli3 UTSW 13 15,723,092 (GRCm39) missense probably damaging 0.99
R5395:Gli3 UTSW 13 15,889,535 (GRCm39) missense probably damaging 1.00
R5494:Gli3 UTSW 13 15,900,567 (GRCm39) missense probably benign 0.28
R5609:Gli3 UTSW 13 15,723,038 (GRCm39) missense possibly damaging 0.82
R5718:Gli3 UTSW 13 15,652,750 (GRCm39) critical splice donor site probably null
R5810:Gli3 UTSW 13 15,818,894 (GRCm39) missense probably damaging 0.99
R5896:Gli3 UTSW 13 15,900,765 (GRCm39) missense probably benign 0.00
R5930:Gli3 UTSW 13 15,723,210 (GRCm39) missense probably damaging 1.00
R5964:Gli3 UTSW 13 15,900,747 (GRCm39) nonsense probably null
R5985:Gli3 UTSW 13 15,898,140 (GRCm39) missense probably damaging 1.00
R6224:Gli3 UTSW 13 15,899,730 (GRCm39) missense probably benign
R6278:Gli3 UTSW 13 15,899,698 (GRCm39) missense possibly damaging 0.69
R6330:Gli3 UTSW 13 15,899,317 (GRCm39) missense probably damaging 1.00
R6383:Gli3 UTSW 13 15,898,140 (GRCm39) missense probably damaging 1.00
R6523:Gli3 UTSW 13 15,888,235 (GRCm39) critical splice donor site probably null
R7072:Gli3 UTSW 13 15,900,280 (GRCm39) missense possibly damaging 0.51
R7085:Gli3 UTSW 13 15,889,647 (GRCm39) missense probably damaging 1.00
R7228:Gli3 UTSW 13 15,899,087 (GRCm39) missense probably benign 0.00
R7327:Gli3 UTSW 13 15,900,144 (GRCm39) missense probably benign 0.02
R7451:Gli3 UTSW 13 15,900,876 (GRCm39) missense possibly damaging 0.50
R7974:Gli3 UTSW 13 15,900,841 (GRCm39) missense probably benign 0.00
R8167:Gli3 UTSW 13 15,900,228 (GRCm39) missense probably benign 0.00
R8170:Gli3 UTSW 13 15,894,793 (GRCm39) missense probably benign
R8199:Gli3 UTSW 13 15,900,576 (GRCm39) missense probably benign 0.08
R8247:Gli3 UTSW 13 15,901,360 (GRCm39) missense possibly damaging 0.82
R8332:Gli3 UTSW 13 15,888,133 (GRCm39) missense possibly damaging 0.58
R8347:Gli3 UTSW 13 15,898,110 (GRCm39) missense probably damaging 1.00
R8559:Gli3 UTSW 13 15,834,717 (GRCm39) missense probably damaging 1.00
R8676:Gli3 UTSW 13 15,889,619 (GRCm39) missense probably damaging 1.00
R8905:Gli3 UTSW 13 15,901,116 (GRCm39) missense probably benign 0.01
R9099:Gli3 UTSW 13 15,901,320 (GRCm39) missense probably damaging 1.00
R9260:Gli3 UTSW 13 15,899,675 (GRCm39) missense probably damaging 0.99
R9317:Gli3 UTSW 13 15,889,658 (GRCm39) missense probably damaging 1.00
R9475:Gli3 UTSW 13 15,900,296 (GRCm39) missense possibly damaging 0.87
R9546:Gli3 UTSW 13 15,788,443 (GRCm39) missense probably benign 0.00
R9571:Gli3 UTSW 13 15,900,858 (GRCm39) missense probably benign 0.00
R9621:Gli3 UTSW 13 15,901,253 (GRCm39) missense probably benign 0.01
R9704:Gli3 UTSW 13 15,898,058 (GRCm39) missense probably damaging 1.00
R9787:Gli3 UTSW 13 15,900,386 (GRCm39) missense probably damaging 0.96
RF010:Gli3 UTSW 13 15,900,954 (GRCm39) missense probably damaging 1.00
Predicted Primers
Posted On 2013-08-08