Incidental Mutation 'IGL02063:Gli3'
ID283299
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gli3
Ensembl Gene ENSMUSG00000021318
Gene NameGLI-Kruppel family member GLI3
Synonymsbrachyphalangy, Bph
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02063
Quality Score
Status
Chromosome13
Chromosomal Location15463235-15730026 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 15726372 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 1448 (D1448G)
Ref Sequence ENSEMBL: ENSMUSP00000106137 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110510]
Predicted Effect possibly damaging
Transcript: ENSMUST00000110510
AA Change: D1448G

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000106137
Gene: ENSMUSG00000021318
AA Change: D1448G

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
Coding Region Coverage
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atg2b A G 12: 105,648,322 Y1117H possibly damaging Het
B020004C17Rik A G 14: 57,016,023 R24G probably damaging Het
BC005624 A G 2: 30,978,934 M76T probably benign Het
Blm G T 7: 80,509,419 S323* probably null Het
Card19 C A 13: 49,203,131 G181* probably null Het
Cilp2 T C 8: 69,882,865 I494M probably damaging Het
Col5a2 A G 1: 45,403,419 probably null Het
Col6a4 T C 9: 106,057,418 D1431G probably benign Het
Cped1 G A 6: 22,138,702 C560Y probably damaging Het
Cyfip1 T C 7: 55,926,348 S1091P probably damaging Het
Ddx24 A G 12: 103,418,202 I466T probably damaging Het
Dlg2 T A 7: 91,810,476 probably benign Het
Esf1 C A 2: 140,164,457 D257Y possibly damaging Het
Fgfr2 A G 7: 130,167,755 F634S probably damaging Het
Flywch2 A G 17: 23,777,107 probably benign Het
Gbp10 A T 5: 105,236,040 I32N possibly damaging Het
Gm10335 T C 10: 14,523,403 probably benign Het
Gm5724 T C 6: 141,738,889 D280G probably benign Het
Golga5 A T 12: 102,472,159 E44D probably benign Het
H2-M10.1 C T 17: 36,324,009 probably benign Het
Ino80b A T 6: 83,124,162 D141E probably damaging Het
Itpr3 A G 17: 27,120,023 I2593V probably benign Het
Krt73 C T 15: 101,795,769 probably benign Het
Loxl4 G T 19: 42,608,339 L78I probably benign Het
Mbd5 A T 2: 49,274,767 N360I probably damaging Het
Nfat5 A T 8: 107,361,818 M495L probably benign Het
Nrxn3 A T 12: 88,795,795 E204V possibly damaging Het
Olfr1053 G T 2: 86,314,793 F164L possibly damaging Het
Paqr4 A T 17: 23,739,912 C38* probably null Het
Pcdhb13 T A 18: 37,444,229 N553K probably damaging Het
Pcdhb9 T A 18: 37,401,757 M268K probably benign Het
Pdap1 A T 5: 145,135,059 probably benign Het
Phf2 A T 13: 48,821,642 Y281N unknown Het
Phka2 T A X: 160,564,213 I664N possibly damaging Het
Plekha7 A T 7: 116,140,701 D762E possibly damaging Het
Plekhg4 T A 8: 105,379,252 probably benign Het
Ppfia2 A T 10: 106,904,845 Q1006L probably null Het
Pramef8 C A 4: 143,417,851 Q256K probably benign Het
Prmt5 G A 14: 54,511,020 Q197* probably null Het
Prodh A T 16: 18,079,185 probably null Het
Rnft2 A G 5: 118,242,522 probably benign Het
Rp1l1 G T 14: 64,029,536 S857I probably damaging Het
Samd9l A G 6: 3,372,992 F1423S probably damaging Het
Scn3a A G 2: 65,461,510 Y1631H probably damaging Het
Slc22a5 A T 11: 53,875,073 I229K probably damaging Het
Snd1 T A 6: 28,526,221 probably benign Het
Srrm1 G T 4: 135,347,207 probably null Het
Syne2 T C 12: 76,052,100 V5252A probably damaging Het
Tek A G 4: 94,739,645 D2G probably benign Het
Uba1 T C X: 20,679,725 S803P probably damaging Het
Uggt2 A G 14: 119,089,193 I202T possibly damaging Het
Umodl1 A T 17: 30,987,914 I760F probably benign Het
Vgll1 A G X: 57,099,209 probably benign Het
Zadh2 T A 18: 84,095,265 Y355* probably null Het
Zfp236 A G 18: 82,658,151 V347A probably benign Het
Zswim9 T C 7: 13,260,681 E516G probably damaging Het
Other mutations in Gli3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00417:Gli3 APN 13 15644299 missense probably damaging 1.00
IGL00471:Gli3 APN 13 15723769 critical splice donor site probably null
IGL00484:Gli3 APN 13 15644392 missense possibly damaging 0.84
IGL00588:Gli3 APN 13 15644392 missense possibly damaging 0.84
IGL01161:Gli3 APN 13 15548398 critical splice acceptor site probably null
IGL01633:Gli3 APN 13 15648634 missense probably damaging 1.00
IGL01799:Gli3 APN 13 15726161 missense probably benign 0.00
IGL01861:Gli3 APN 13 15725325 missense probably damaging 1.00
IGL02112:Gli3 APN 13 15662514 missense probably damaging 1.00
IGL02255:Gli3 APN 13 15648719 missense probably damaging 1.00
IGL02270:Gli3 APN 13 15726786 utr 3 prime probably benign
IGL02336:Gli3 APN 13 15720289 missense probably damaging 1.00
IGL02346:Gli3 APN 13 15723693 missense probably damaging 1.00
IGL02744:Gli3 APN 13 15613886 critical splice donor site probably null
IGL02877:Gli3 APN 13 15724742 missense probably damaging 1.00
IGL02975:Gli3 APN 13 15724568 missense probably damaging 1.00
IGL03018:Gli3 APN 13 15660132 missense probably damaging 1.00
IGL03378:Gli3 APN 13 15644420 missense probably damaging 1.00
IGL03406:Gli3 APN 13 15648581 missense probably damaging 1.00
FR4737:Gli3 UTSW 13 15644357 missense probably damaging 1.00
R0110:Gli3 UTSW 13 15724785 missense probably damaging 1.00
R0329:Gli3 UTSW 13 15723558 missense probably damaging 0.98
R0330:Gli3 UTSW 13 15723558 missense probably damaging 0.98
R0360:Gli3 UTSW 13 15724764 missense probably benign 0.32
R0364:Gli3 UTSW 13 15724764 missense probably benign 0.32
R0469:Gli3 UTSW 13 15724785 missense probably damaging 1.00
R0616:Gli3 UTSW 13 15662406 missense possibly damaging 0.75
R0639:Gli3 UTSW 13 15724715 missense probably damaging 1.00
R1072:Gli3 UTSW 13 15713605 missense probably damaging 1.00
R1257:Gli3 UTSW 13 15725996 nonsense probably null
R1270:Gli3 UTSW 13 15723744 missense probably benign 0.02
R1424:Gli3 UTSW 13 15726314 missense probably benign 0.00
R1481:Gli3 UTSW 13 15613850 missense probably damaging 0.99
R1596:Gli3 UTSW 13 15725471 missense possibly damaging 0.74
R1628:Gli3 UTSW 13 15726312 missense probably benign 0.00
R1721:Gli3 UTSW 13 15726297 missense probably benign 0.27
R1797:Gli3 UTSW 13 15713512 missense probably damaging 0.99
R1813:Gli3 UTSW 13 15648691 missense probably damaging 1.00
R1819:Gli3 UTSW 13 15725792 nonsense probably null
R1988:Gli3 UTSW 13 15726380 missense probably benign
R2132:Gli3 UTSW 13 15725549 missense possibly damaging 0.74
R2352:Gli3 UTSW 13 15662392 missense probably benign 0.02
R3085:Gli3 UTSW 13 15660941 missense probably damaging 1.00
R3177:Gli3 UTSW 13 15725982 missense probably benign 0.28
R3277:Gli3 UTSW 13 15725982 missense probably benign 0.28
R4162:Gli3 UTSW 13 15725115 missense possibly damaging 0.93
R4497:Gli3 UTSW 13 15723571 missense possibly damaging 0.74
R4526:Gli3 UTSW 13 15713631 missense probably damaging 1.00
R4979:Gli3 UTSW 13 15724464 missense possibly damaging 0.87
R5327:Gli3 UTSW 13 15548507 missense probably damaging 0.99
R5395:Gli3 UTSW 13 15714950 missense probably damaging 1.00
R5494:Gli3 UTSW 13 15725982 missense probably benign 0.28
R5609:Gli3 UTSW 13 15548453 missense possibly damaging 0.82
R5718:Gli3 UTSW 13 15478165 critical splice donor site probably null
R5810:Gli3 UTSW 13 15644309 missense probably damaging 0.99
R5896:Gli3 UTSW 13 15726180 missense probably benign 0.00
R5930:Gli3 UTSW 13 15548625 missense probably damaging 1.00
R5964:Gli3 UTSW 13 15726162 nonsense probably null
R5985:Gli3 UTSW 13 15723555 missense probably damaging 1.00
R6224:Gli3 UTSW 13 15725145 missense probably benign
R6278:Gli3 UTSW 13 15725113 missense possibly damaging 0.69
R6330:Gli3 UTSW 13 15724732 missense probably damaging 1.00
R6383:Gli3 UTSW 13 15723555 missense probably damaging 1.00
R6523:Gli3 UTSW 13 15713650 critical splice donor site probably null
R7072:Gli3 UTSW 13 15725695 missense possibly damaging 0.51
R7085:Gli3 UTSW 13 15715062 missense probably damaging 1.00
Posted On2015-04-16