Incidental Mutation 'R5896:Gli3'
ID 457542
Institutional Source Beutler Lab
Gene Symbol Gli3
Ensembl Gene ENSMUSG00000021318
Gene Name GLI-Kruppel family member GLI3
Synonyms Bph, brachyphalangy
MMRRC Submission 044095-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5896 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 15638308-15904611 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 15900765 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Lysine at position 1384 (R1384K)
Ref Sequence ENSEMBL: ENSMUSP00000106137 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110510]
AlphaFold Q61602
Predicted Effect probably benign
Transcript: ENSMUST00000110510
AA Change: R1384K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000106137
Gene: ENSMUSG00000021318
AA Change: R1384K

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 0.1067 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.3%
  • 20x: 91.5%
Validation Efficiency 99% (86/87)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310061N02Rik A T 16: 88,504,321 (GRCm39) S159T probably damaging Het
2610028H24Rik T A 10: 76,288,664 (GRCm39) M53K probably benign Het
3425401B19Rik G A 14: 32,383,632 (GRCm39) Q778* probably null Het
Abhd16a T A 17: 35,310,701 (GRCm39) probably benign Het
Acp6 A G 3: 97,075,810 (GRCm39) K226R probably benign Het
Ankfy1 A G 11: 72,650,811 (GRCm39) D998G probably damaging Het
Apbb1 G T 7: 105,223,432 (GRCm39) P60T probably damaging Het
Apol9a T A 15: 77,288,705 (GRCm39) I221F probably benign Het
Arhgap29 A G 3: 121,805,736 (GRCm39) E947G possibly damaging Het
B430218F22Rik A T 13: 118,523,934 (GRCm39) probably benign Het
Carmil3 ACCCCC ACCCCCCC 14: 55,741,456 (GRCm39) probably null Het
Ccdc69 C T 11: 54,943,716 (GRCm39) probably null Het
Ccdc93 G T 1: 121,390,849 (GRCm39) V274L possibly damaging Het
Cdc25a A G 9: 109,713,433 (GRCm39) D191G probably benign Het
Cimip2a A T 2: 25,110,578 (GRCm39) M129L probably benign Het
Cmya5 A G 13: 93,182,373 (GRCm39) probably null Het
Crebzf TGGAGGAGGAGGAGGAGGA TGGAGGAGGAGGAGGA 7: 90,092,479 (GRCm39) probably benign Het
Csde1 T C 3: 102,947,859 (GRCm39) probably benign Het
Ctdp1 A G 18: 80,502,003 (GRCm39) L177P probably damaging Het
Dnah5 T A 15: 28,272,206 (GRCm39) H1003Q probably benign Het
Epb41l2 T A 10: 25,369,494 (GRCm39) N604K probably damaging Het
Fig4 T A 10: 41,130,881 (GRCm39) N465Y possibly damaging Het
Gemin7 G A 7: 19,299,223 (GRCm39) S124F probably damaging Het
Gm12258 G A 11: 58,750,457 (GRCm39) C544Y probably damaging Het
Grm1 C T 10: 10,956,294 (GRCm39) probably benign Het
H2-T15 T A 17: 36,367,236 (GRCm39) M329L probably benign Het
Hps4 C T 5: 112,517,351 (GRCm39) T246I probably benign Het
Ifngr2 A T 16: 91,358,653 (GRCm39) E284D possibly damaging Het
Impdh2 A G 9: 108,441,165 (GRCm39) T148A probably benign Het
Irx3 T C 8: 92,527,763 (GRCm39) S36G probably benign Het
Itga5 T A 15: 103,259,514 (GRCm39) K667N probably benign Het
Itgad G A 7: 127,773,188 (GRCm39) C15Y probably benign Het
Ly75 T G 2: 60,213,490 (GRCm39) E29A probably benign Het
Magi1 T A 6: 93,685,180 (GRCm39) S506C probably damaging Het
Map4 G A 9: 109,901,702 (GRCm39) V781M possibly damaging Het
Med23 T C 10: 24,778,043 (GRCm39) L797P probably damaging Het
Naip1 C T 13: 100,559,636 (GRCm39) G1123R probably benign Het
Ncor1 G T 11: 62,274,016 (GRCm39) P55Q probably damaging Het
Odr4 A T 1: 150,256,111 (GRCm39) N211K probably benign Het
Ofcc1 T A 13: 40,334,060 (GRCm39) I344F probably benign Het
Or4a74 C A 2: 89,439,667 (GRCm39) V260F probably damaging Het
Or4d5 A T 9: 40,012,189 (GRCm39) M199K probably damaging Het
Or5d35 A G 2: 87,855,465 (GRCm39) Y133C probably damaging Het
Or5k1 G A 16: 58,618,095 (GRCm39) T38I probably damaging Het
Otub2 C T 12: 103,369,687 (GRCm39) probably benign Het
Parva A G 7: 112,143,960 (GRCm39) M83V probably benign Het
Pcdha8 T A 18: 37,126,572 (GRCm39) N351K probably benign Het
Pcdhb5 T A 18: 37,455,732 (GRCm39) L704* probably null Het
Pkd1l3 T A 8: 110,353,468 (GRCm39) L683H probably damaging Het
Plekhn1 C T 4: 156,308,331 (GRCm39) R288H probably benign Het
Polr2a A T 11: 69,627,086 (GRCm39) N1457K probably damaging Het
Ppp1r12b A G 1: 134,693,719 (GRCm39) S981P probably damaging Het
Ppp1r9a A G 6: 5,159,648 (GRCm39) K1062E probably damaging Het
Ptpre A T 7: 135,276,007 (GRCm39) T498S probably benign Het
Pus7l C T 15: 94,427,332 (GRCm39) probably null Het
Rptn C T 3: 93,305,639 (GRCm39) Q991* probably null Het
Rsu1 T G 2: 13,229,170 (GRCm39) E76A probably damaging Het
Septin11 T A 5: 93,304,824 (GRCm39) F214I probably damaging Het
Slc1a7 G T 4: 107,869,587 (GRCm39) A551S probably benign Het
Slc45a2 T A 15: 11,000,941 (GRCm39) Y13* probably null Het
Slc7a14 T G 3: 31,311,719 (GRCm39) L100F probably damaging Het
Slit3 A G 11: 35,598,932 (GRCm39) E1512G probably damaging Het
Stat5a A G 11: 100,767,883 (GRCm39) Q458R possibly damaging Het
Svep1 T C 4: 58,084,906 (GRCm39) T1811A possibly damaging Het
Tarbp1 A G 8: 127,179,667 (GRCm39) F624L probably benign Het
Tfeb T G 17: 48,070,433 (GRCm39) probably null Het
Tnxb G A 17: 34,891,126 (GRCm39) G490R probably damaging Het
Tra2b T C 16: 22,077,953 (GRCm39) Y32C probably damaging Het
Trpv4 C T 5: 114,760,708 (GRCm39) probably benign Het
Uvrag A T 7: 98,637,414 (GRCm39) L138* probably null Het
Vwf A T 6: 125,655,725 (GRCm39) probably null Het
Wdr47 G A 3: 108,526,322 (GRCm39) D282N probably damaging Het
Xirp2 A G 2: 67,340,290 (GRCm39) N844D possibly damaging Het
Xirp2 A G 2: 67,339,042 (GRCm39) M428V probably benign Het
Znfx1 G A 2: 166,880,920 (GRCm39) T288I probably 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
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'- GACAGGGATACATTGCCCATC -3'
(R):5'- CTGACTGAAGCCCATGGTTTG -3'

Sequencing Primer
(F):5'- ATCAGCTACTCAGTGGCAGCATG -3'
(R):5'- CCCATGGTTTGGTCATAGAACTGAC -3'
Posted On 2017-02-15