Incidental Mutation 'R2132:Gli3'
ID 233438
Institutional Source Beutler Lab
Gene Symbol Gli3
Ensembl Gene ENSMUSG00000021318
Gene Name GLI-Kruppel family member GLI3
Synonyms Bph, brachyphalangy
MMRRC Submission 040135-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2132 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 15638308-15904611 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 15900134 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 1174 (S1174T)
Ref Sequence ENSEMBL: ENSMUSP00000106137 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110510]
AlphaFold Q61602
Predicted Effect possibly damaging
Transcript: ENSMUST00000110510
AA Change: S1174T

PolyPhen 2 Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000106137
Gene: ENSMUSG00000021318
AA Change: S1174T

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 0.0725 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency 94% (117/124)
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: 122 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310003L06Rik A G 5: 88,112,335 (GRCm39) probably benign Het
4930562C15Rik A C 16: 4,653,835 (GRCm39) Q128P unknown Het
Abcc3 T A 11: 94,258,426 (GRCm39) K473M probably benign Het
Acacb TGGGG TGGG 5: 114,347,828 (GRCm39) probably null Het
Adgrg7 C A 16: 56,588,281 (GRCm39) A199S probably damaging Het
Akap13 G T 7: 75,261,182 (GRCm39) A1269S probably benign Het
Aox3 A G 1: 58,209,002 (GRCm39) H845R probably damaging Het
Ap2b1 T A 11: 83,215,587 (GRCm39) probably benign Het
Atat1 A G 17: 36,220,331 (GRCm39) S54P probably damaging Het
Atp13a2 T A 4: 140,732,327 (GRCm39) M864K probably damaging Het
B3gnt3 G A 8: 72,145,971 (GRCm39) T186M probably damaging Het
Cars1 C A 7: 143,146,211 (GRCm39) R71M probably damaging Het
Castor2 G A 5: 134,164,992 (GRCm39) C187Y probably damaging Het
Ccdc157 A T 11: 4,100,004 (GRCm39) V116E probably damaging Het
Ccdc85a G A 11: 28,384,151 (GRCm39) T408I probably benign Het
Celf1 G T 2: 90,840,791 (GRCm39) G353W probably damaging Het
Celsr1 T A 15: 85,916,168 (GRCm39) I602F possibly damaging Het
Cenpb C T 2: 131,021,226 (GRCm39) V191M probably damaging Het
Cenpn G A 8: 117,661,536 (GRCm39) probably null Het
Cfap65 A C 1: 74,946,850 (GRCm39) C1287G probably damaging Het
Cmya5 G A 13: 93,205,891 (GRCm39) T3326I probably damaging Het
Cnn3 A T 3: 121,245,584 (GRCm39) E100V probably damaging Het
Col4a4 G A 1: 82,475,581 (GRCm39) R583C unknown Het
Commd7 A C 2: 153,463,586 (GRCm39) probably benign Het
Csmd3 T C 15: 48,320,899 (GRCm39) T304A probably benign Het
Cyp4a14 A T 4: 115,348,588 (GRCm39) S325R probably damaging Het
Dclk2 T C 3: 86,827,353 (GRCm39) N42S probably benign Het
Dmrta1 A T 4: 89,576,946 (GRCm39) Q134L probably damaging Het
Dnaaf3 T A 7: 4,526,800 (GRCm39) I426L probably benign Het
Dnah17 G A 11: 117,924,573 (GRCm39) L3999F probably damaging Het
Dock6 A G 9: 21,757,814 (GRCm39) S97P probably benign Het
Dsg1a T A 18: 20,473,854 (GRCm39) S976T probably damaging Het
Dstyk T A 1: 132,377,222 (GRCm39) M29K probably null Het
Eif3i A T 4: 129,490,719 (GRCm39) H18Q probably benign Het
Epm2a A G 10: 11,219,426 (GRCm39) E71G probably benign Het
Eps15l1 A T 8: 73,140,712 (GRCm39) V260D probably benign Het
Faf1 A G 4: 109,568,042 (GRCm39) N34S probably damaging Het
Fat3 A G 9: 16,158,015 (GRCm39) probably null Het
Fbxw10 T A 11: 62,750,683 (GRCm39) I422N probably damaging Het
Fcgbpl1 C T 7: 27,854,899 (GRCm39) P1842S probably damaging Het
Fkbp15 C A 4: 62,246,136 (GRCm39) G431W probably damaging Het
Flnb A C 14: 7,873,376 (GRCm38) D224A probably benign Het
Flnc G A 6: 29,443,675 (GRCm39) V566M probably damaging Het
Glmn A T 5: 107,726,321 (GRCm39) V93E probably damaging Het
Glrx2 T C 1: 143,620,842 (GRCm39) S74P possibly damaging Het
Gm5422 G A 10: 31,124,929 (GRCm39) noncoding transcript Het
Gpi1 T C 7: 33,905,339 (GRCm39) K362E probably damaging Het
Gtpbp2 T C 17: 46,472,128 (GRCm39) M21T probably benign Het
Gxylt1 A G 15: 93,142,851 (GRCm39) *405R probably null Het
Heyl T C 4: 123,139,876 (GRCm39) V145A probably damaging Het
Hhipl1 A C 12: 108,277,949 (GRCm39) E92D probably damaging Het
Ifi207 A G 1: 173,557,337 (GRCm39) F467S possibly damaging Het
Ift70b G T 2: 75,767,129 (GRCm39) H541Q probably damaging Het
Igf2r A T 17: 12,941,095 (GRCm39) I462N probably benign Het
Inpp5b A T 4: 124,678,961 (GRCm39) probably benign Het
Kansl2 A G 15: 98,427,278 (GRCm39) I201T probably damaging Het
Kcnh8 T C 17: 53,200,961 (GRCm39) V465A probably damaging Het
Kcnu1 T A 8: 26,341,928 (GRCm39) I91N probably damaging Het
Kif5c T A 2: 49,648,817 (GRCm39) probably benign Het
Klrc3 T A 6: 129,618,501 (GRCm39) Y94F probably benign Het
Lgals3bp T A 11: 118,284,113 (GRCm39) T489S probably benign Het
Lmo2 T C 2: 103,811,407 (GRCm39) Y147H probably damaging Het
Lmtk2 C T 5: 144,111,806 (GRCm39) T842I possibly damaging Het
Magel2 A T 7: 62,027,486 (GRCm39) H130L unknown Het
Magi1 T C 6: 93,674,255 (GRCm39) E951G probably damaging Het
Mcm7 T C 5: 138,167,364 (GRCm39) Q86R probably damaging Het
Med12l G T 3: 59,172,703 (GRCm39) probably null Het
Morc2a A G 11: 3,629,787 (GRCm39) E402G possibly damaging Het
Mphosph8 T C 14: 56,916,161 (GRCm39) C486R probably benign Het
Mpo A G 11: 87,688,187 (GRCm39) D282G possibly damaging Het
Mtcl1 G T 17: 66,650,618 (GRCm39) H1616N probably benign Het
Myh10 A G 11: 68,698,115 (GRCm39) probably benign Het
Myh8 A G 11: 67,183,702 (GRCm39) E777G probably damaging Het
Nid1 A G 13: 13,684,071 (GRCm39) H1186R probably benign Het
Nppb T A 4: 148,070,454 (GRCm39) S8T probably benign Het
Nrp1 A T 8: 129,224,997 (GRCm39) E782D probably damaging Het
Ntrk3 G A 7: 78,127,683 (GRCm39) probably benign Het
Or1ak2 A G 2: 36,827,704 (GRCm39) N191S probably benign Het
Or1j13 A G 2: 36,370,059 (GRCm39) S28P possibly damaging Het
Or2f1 C A 6: 42,721,069 (GRCm39) L33M possibly damaging Het
Or5al5 A G 2: 85,961,605 (GRCm39) V134A possibly damaging Het
Or5b99 T A 19: 12,976,402 (GRCm39) D17E probably benign Het
Or6f1 C T 7: 85,970,687 (GRCm39) V158M possibly damaging Het
Osbpl6 T A 2: 76,416,558 (GRCm39) I546K probably damaging Het
Pard6g T C 18: 80,160,523 (GRCm39) V212A probably damaging Het
Pate6 T G 9: 35,701,039 (GRCm39) probably benign Het
Pdlim4 A G 11: 53,954,563 (GRCm39) L48S possibly damaging Het
Phactr3 T C 2: 177,925,759 (GRCm39) F345L probably benign Het
Plcb1 T A 2: 135,167,587 (GRCm39) Y460* probably null Het
Prcp T A 7: 92,550,488 (GRCm39) V95D probably benign Het
Rfwd3 A T 8: 112,024,034 (GRCm39) V96E probably benign Het
Ror1 A G 4: 100,267,222 (GRCm39) N308D probably benign Het
Sdccag8 C A 1: 176,783,455 (GRCm39) Q655K probably damaging Het
Senp1 T A 15: 97,973,848 (GRCm39) T132S probably benign Het
Skap1 T C 11: 96,355,559 (GRCm39) I10T possibly damaging Het
Slc9a4 T G 1: 40,646,901 (GRCm39) probably null Het
Smad2 T A 18: 76,421,155 (GRCm39) C161* probably null Het
Spata31d1a G T 13: 59,848,857 (GRCm39) D1090E probably damaging Het
Stard13 T C 5: 150,968,633 (GRCm39) Y879C probably damaging Het
Tdrd6 T C 17: 43,935,724 (GRCm39) T1775A probably benign Het
Tecpr1 T A 5: 144,145,463 (GRCm39) T595S probably benign Het
Terf1 A G 1: 15,875,909 (GRCm39) E3G probably benign Het
Tjp3 T A 10: 81,113,888 (GRCm39) M457L possibly damaging Het
Tnfrsf26 C T 7: 143,171,577 (GRCm39) probably null Het
Tor1aip1 A C 1: 155,883,308 (GRCm39) M180R probably damaging Het
Trabd2b A T 4: 114,467,205 (GRCm39) Q478L probably benign Het
Trim41 C A 11: 48,698,419 (GRCm39) G516W probably damaging Het
Ttc39a A G 4: 109,299,903 (GRCm39) Y464C probably damaging Het
Unc5a A G 13: 55,138,896 (GRCm39) S92G probably damaging Het
Unc5d A C 8: 29,365,557 (GRCm39) S143A possibly damaging Het
Usp34 A T 11: 23,414,556 (GRCm39) H2833L possibly damaging Het
Vps35l T C 7: 118,393,798 (GRCm39) Y516H probably damaging Het
Wdr17 T G 8: 55,125,541 (GRCm39) K446N probably damaging Het
Xirp2 A T 2: 67,338,392 (GRCm39) Q211L possibly damaging Het
Xkr7 G A 2: 152,894,816 (GRCm39) R256Q probably benign Het
Zfp236 T C 18: 82,639,429 (GRCm39) M1225V probably benign Het
Zfp268 T A 4: 145,350,803 (GRCm39) probably benign Het
Zfp280d T C 9: 72,215,287 (GRCm39) F133L probably damaging Het
Zfp747l1 T C 7: 126,986,107 (GRCm39) D8G probably benign Het
Zfp758 A G 17: 22,594,951 (GRCm39) H479R probably damaging Het
Zfp827 A G 8: 79,912,350 (GRCm39) N284S possibly damaging Het
Zfyve26 T A 12: 79,315,208 (GRCm39) I1423F 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
R0330: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
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 PCR Primer
(F):5'- CAGTTGCAGAGTGGCATCTC -3'
(R):5'- TCCATTGGTGCCAAGTCCATC -3'

Sequencing Primer
(F):5'- TGGCATCTCTGAAGACAGC -3'
(R):5'- CCACTGTGGATTGCAAAGTGCTC -3'
Posted On 2014-10-01