Incidental Mutation 'R6523:Gli3'
ID 521540
Institutional Source Beutler Lab
Gene Symbol Gli3
Ensembl Gene ENSMUSG00000021318
Gene Name GLI-Kruppel family member GLI3
Synonyms Bph, brachyphalangy
MMRRC Submission 044649-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6523 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 15638308-15904611 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 15888235 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000115989 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110510] [ENSMUST00000130065]
AlphaFold Q61602
Predicted Effect probably null
Transcript: ENSMUST00000110510
SMART Domains Protein: ENSMUSP00000106137
Gene: ENSMUSG00000021318

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
Predicted Effect probably null
Transcript: ENSMUST00000130065
SMART Domains Protein: ENSMUSP00000115989
Gene: ENSMUSG00000021318

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 576 596 1.45e2 SMART
Meta Mutation Damage Score 0.9489 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.3%
Validation Efficiency 97% (68/70)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ackr1 A G 1: 173,160,120 (GRCm39) probably null Het
Alg2 A T 4: 47,472,071 (GRCm39) S246T possibly damaging Het
Ankfy1 G A 11: 72,621,308 (GRCm39) R198Q possibly damaging Het
Arid4a A G 12: 71,114,115 (GRCm39) probably null Het
AU040320 G A 4: 126,762,553 (GRCm39) probably null Het
B430306N03Rik A G 17: 48,626,193 (GRCm39) T129A possibly damaging Het
Blvrb C A 7: 27,165,142 (GRCm39) probably null Het
Ccdc175 T C 12: 72,191,565 (GRCm39) N337S probably benign Het
Ccdc28b A C 4: 129,514,780 (GRCm39) F110V probably damaging Het
Cd200 A G 16: 45,220,633 (GRCm39) Y16H probably benign Het
Cfh T G 1: 140,029,445 (GRCm39) E950A possibly damaging Het
Clec3a A T 8: 115,152,345 (GRCm39) Y117F probably damaging Het
CN725425 A G 15: 91,115,784 (GRCm39) S9G probably benign Het
Coasy T A 11: 100,976,944 (GRCm39) W535R probably damaging Het
Cox4i1 T A 8: 121,399,480 (GRCm39) S30R probably benign Het
Csnk1a1 G A 18: 61,688,829 (GRCm39) S3N probably benign Het
Dcst2 C G 3: 89,280,808 (GRCm39) L669V probably benign Het
Dnah14 A G 1: 181,471,186 (GRCm39) I1346V probably benign Het
Fbxw24 G A 9: 109,434,048 (GRCm39) R421* probably null Het
Fstl5 G A 3: 76,443,641 (GRCm39) V329I probably benign Het
Gna11 A T 10: 81,380,688 (GRCm39) I25N probably damaging Het
Greb1 C T 12: 16,734,374 (GRCm39) V1539I possibly damaging Het
Hipk3 T A 2: 104,269,753 (GRCm39) T479S possibly damaging Het
Hspa1b A G 17: 35,176,167 (GRCm39) I606T probably benign Het
Idnk T A 13: 58,311,457 (GRCm39) F141L probably damaging Het
Ifit3 A G 19: 34,565,555 (GRCm39) N367S probably benign Het
Kcnn1 A T 8: 71,299,169 (GRCm39) D448E possibly damaging Het
Krt14 T C 11: 100,095,923 (GRCm39) T212A possibly damaging Het
Ldlr G A 9: 21,648,549 (GRCm39) C285Y probably damaging Het
Mark3 G A 12: 111,593,669 (GRCm39) V234I probably damaging Het
Meikin T A 11: 54,289,327 (GRCm39) Y233* probably null Het
Mtcl2 G A 2: 156,902,263 (GRCm39) Q251* probably null Het
Muc20 T C 16: 32,613,820 (GRCm39) D519G possibly damaging Het
Nalcn T A 14: 123,555,255 (GRCm39) H876L probably benign Het
Ncaph A T 2: 126,947,809 (GRCm39) I698K probably damaging Het
Nipal1 A T 5: 72,824,951 (GRCm39) I215F probably damaging Het
Nrde2 A T 12: 100,100,664 (GRCm39) D607E possibly damaging Het
Nt5dc2 T C 14: 30,857,662 (GRCm39) F217S probably damaging Het
Ntsr2 T A 12: 16,706,697 (GRCm39) S156T probably benign Het
Or13c9 A T 4: 52,935,500 (GRCm39) I261N probably damaging Het
Or5b110-ps1 A C 19: 13,259,728 (GRCm39) D231E probably benign Het
Or5p4 A C 7: 107,680,762 (GRCm39) T254P probably benign Het
Pfas A T 11: 68,881,283 (GRCm39) I1028K probably benign Het
Pnpla5 C A 15: 83,999,912 (GRCm39) R329L possibly damaging Het
Pramel30 T C 4: 144,058,218 (GRCm39) V275A probably benign Het
Rhot2 A G 17: 26,058,394 (GRCm39) V393A possibly damaging Het
Rigi T A 4: 40,205,947 (GRCm39) T882S probably benign Het
Rnase9 T A 14: 51,276,684 (GRCm39) Y98F possibly damaging Het
Sacs C A 14: 61,440,410 (GRCm39) L819I probably damaging Het
Sall3 C T 18: 81,016,403 (GRCm39) M508I possibly damaging Het
Scube3 G A 17: 28,381,362 (GRCm39) C301Y probably damaging Het
Sgo2b G T 8: 64,380,538 (GRCm39) H765N probably benign Het
Sh3gl1 A T 17: 56,324,617 (GRCm39) Y344N possibly damaging Het
Slc15a2 A G 16: 36,572,683 (GRCm39) V635A probably benign Het
Slc1a4 T A 11: 20,282,114 (GRCm39) Y40F probably damaging Het
Slc4a10 A T 2: 62,117,305 (GRCm39) K755* probably null Het
Slco1a5 C T 6: 142,212,121 (GRCm39) G38R probably damaging Het
Snx25 T A 8: 46,508,892 (GRCm39) D564V probably damaging Het
Spon1 T A 7: 113,486,018 (GRCm39) D189E probably benign Het
Sptbn5 T C 2: 119,896,095 (GRCm39) probably null Het
Ssbp2 A G 13: 91,841,170 (GRCm39) I317V probably benign Het
Stil AAGATTTCCAG A 4: 114,889,911 (GRCm39) probably null Het
Strn3 A T 12: 51,689,881 (GRCm39) probably null Het
Tcaf2 A T 6: 42,619,953 (GRCm39) F25I probably benign Het
Themis C T 10: 28,657,894 (GRCm39) T154I possibly damaging Het
Ttn T C 2: 76,626,390 (GRCm39) R13176G probably damaging Het
Utp4 G A 8: 107,625,095 (GRCm39) V125M probably damaging Het
Vmn1r119 T A 7: 20,745,777 (GRCm39) M202L possibly damaging Het
Zfp292 G C 4: 34,816,301 (GRCm39) F329L probably benign Het
Zfp541 C T 7: 15,829,445 (GRCm39) P1281L probably damaging Het
Zfp616 A T 11: 73,973,968 (GRCm39) Q79L 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
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
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'- GCTTCAGGCAGTTACCAACAG -3'
(R):5'- TGGCCTGTTTAAAGCTCAGC -3'

Sequencing Primer
(F):5'- GTTTCTCTGAGATATGGCTAACAC -3'
(R):5'- GGCCTGTTTAAAGCTCAGCACTAAG -3'
Posted On 2018-06-06