Incidental Mutation 'R8559:Gli3'
ID 660945
Institutional Source Beutler Lab
Gene Symbol Gli3
Ensembl Gene ENSMUSG00000021318
Gene Name GLI-Kruppel family member GLI3
Synonyms Bph, brachyphalangy
MMRRC Submission 068522-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8559 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 15638308-15904611 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 15834717 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 400 (L400Q)
Ref Sequence ENSEMBL: ENSMUSP00000106137 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110510] [ENSMUST00000130065]
AlphaFold Q61602
Predicted Effect probably damaging
Transcript: ENSMUST00000110510
AA Change: L400Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106137
Gene: ENSMUSG00000021318
AA Change: L400Q

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 damaging
Transcript: ENSMUST00000130065
AA Change: L400Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000115989
Gene: ENSMUSG00000021318
AA Change: L400Q

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130535
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr6 T A 10: 89,568,048 (GRCm39) H19L probably benign Het
Adamts9 A T 6: 92,784,117 (GRCm39) V1579E probably benign Het
Arhgap40 C T 2: 158,383,721 (GRCm39) R435C probably damaging Het
Atp1a4 T C 1: 172,078,897 (GRCm39) D207G probably damaging Het
Btaf1 A G 19: 36,964,273 (GRCm39) N948S probably benign Het
Calcr G A 6: 3,692,603 (GRCm39) P417L probably damaging Het
Ccn2 CCCGCCAACCGC CCCGC 10: 24,471,966 (GRCm39) probably null Het
Cep250 T A 2: 155,834,656 (GRCm39) S2194T probably damaging Het
Clcn6 C T 4: 148,111,032 (GRCm39) V102M possibly damaging Het
Cog2 T C 8: 125,269,647 (GRCm39) S396P probably benign Het
Col28a1 C A 6: 8,166,681 (GRCm39) R265L unknown Het
Cpa6 C T 1: 10,478,574 (GRCm39) W254* probably null Het
Crtc2 T A 3: 90,170,904 (GRCm39) M659K possibly damaging Het
Dnah7c A G 1: 46,764,299 (GRCm39) Y3020C probably damaging Het
Dok2 C A 14: 71,014,968 (GRCm39) H232N probably benign Het
Edem3 A G 1: 151,694,169 (GRCm39) E834G probably benign Het
Elac2 T A 11: 64,872,502 (GRCm39) probably null Het
Epx T A 11: 87,755,618 (GRCm39) I689F probably damaging Het
Exd2 G A 12: 80,522,631 (GRCm39) R30H probably benign Het
Gja1 T C 10: 56,264,304 (GRCm39) L221P probably damaging Het
Gm8439 T A 4: 120,458,008 (GRCm39) W50R unknown Het
Greb1 T A 12: 16,746,436 (GRCm39) D1278V probably damaging Het
Grin3a C A 4: 49,770,555 (GRCm39) C739F probably damaging Het
Gucy2g C A 19: 55,198,786 (GRCm39) V786F probably benign Het
Hmcn1 G A 1: 150,551,789 (GRCm39) T2605I probably benign Het
Hmgxb3 T A 18: 61,288,491 (GRCm39) T459S probably benign Het
Ift172 T C 5: 31,413,921 (GRCm39) H1469R probably damaging Het
Il1rap A G 16: 26,530,884 (GRCm39) I407V probably benign Het
Inppl1 G T 7: 101,478,834 (GRCm39) S555* probably null Het
Krt8 T C 15: 101,909,979 (GRCm39) M142V probably benign Het
Lrrk1 T A 7: 65,932,075 (GRCm39) N1049I possibly damaging Het
Megf10 G A 18: 57,373,699 (GRCm39) A166T probably damaging Het
Mei4 A T 9: 81,907,684 (GRCm39) H338L probably benign Het
Mfsd2b T C 12: 4,921,471 (GRCm39) T33A possibly damaging Het
Mgat3 A T 15: 80,096,370 (GRCm39) Y399F probably damaging Het
Mtmr4 C T 11: 87,494,950 (GRCm39) T414I probably damaging Het
Muc4 T C 16: 32,754,715 (GRCm38) S1530P unknown Het
Myl4 T C 11: 104,474,930 (GRCm39) V93A possibly damaging Het
N4bp2 T A 5: 65,982,628 (GRCm39) S1627R possibly damaging Het
Narf T G 11: 121,141,258 (GRCm39) probably null Het
Nbas A C 12: 13,402,809 (GRCm39) I788L probably benign Het
Nlrc3 A G 16: 3,783,146 (GRCm39) S104P probably benign Het
Or14j6 A T 17: 38,214,719 (GRCm39) Y94F probably benign Het
Or4a68 T A 2: 89,270,528 (GRCm39) I32F probably benign Het
Or4c11 A T 2: 88,695,527 (GRCm39) I193L probably benign Het
Or8k3 A G 2: 86,058,988 (GRCm39) V109A probably benign Het
Ppp4r4 A T 12: 103,559,420 (GRCm39) T534S probably benign Het
Prg3 A G 2: 84,819,680 (GRCm39) E58G probably benign Het
Prima1 A G 12: 103,163,512 (GRCm39) V153A possibly damaging Het
Rp1 A T 1: 4,419,784 (GRCm39) Y443N probably damaging Het
Rpgrip1 T C 14: 52,386,714 (GRCm39) S882P unknown Het
Scn1a T A 2: 66,118,077 (GRCm39) D412V probably damaging Het
Srcin1 T C 11: 97,427,975 (GRCm39) T180A probably damaging Het
Suox A G 10: 128,506,600 (GRCm39) L476P probably damaging Het
Tas2r104 T C 6: 131,662,388 (GRCm39) Y107C probably damaging Het
Tubg2 T C 11: 101,047,610 (GRCm39) V65A probably damaging Het
Ubn1 T C 16: 4,882,634 (GRCm39) V365A possibly damaging Het
Vmn2r103 A G 17: 20,032,646 (GRCm39) M807V probably benign Het
Vmn2r75 T A 7: 85,815,480 (GRCm39) Y128F possibly damaging Het
Vps13b A T 15: 35,876,788 (GRCm39) I2814F probably damaging Het
Vps54 T C 11: 21,214,815 (GRCm39) Y108H probably damaging Het
Wdr6 T A 9: 108,452,593 (GRCm39) E430V probably benign Het
Zfp619 T A 7: 39,186,559 (GRCm39) V863E probably benign 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
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
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'- TGATACTCTCTGGCGTCAGC -3'
(R):5'- CCTGGATCACATTCATCAAAACTG -3'

Sequencing Primer
(F):5'- GCGTCAGCAGAAGTGATCATTTTC -3'
(R):5'- TTCATCAAAACTGAATACACCCTTAG -3'
Posted On 2021-03-08