Incidental Mutation 'FR4737:Gli3'
ID 511720
Institutional Source Beutler Lab
Gene Symbol Gli3
Ensembl Gene ENSMUSG00000021318
Gene Name GLI-Kruppel family member GLI3
Synonyms brachyphalangy, Bph
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # FR4737 ()
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 15463235-15730026 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 15644357 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 248 (R248H)
Ref Sequence ENSEMBL: ENSMUSP00000106137 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110510] [ENSMUST00000130065] [ENSMUST00000141194]
AlphaFold Q61602
Predicted Effect probably damaging
Transcript: ENSMUST00000110510
AA Change: R248H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106137
Gene: ENSMUSG00000021318
AA Change: R248H

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: R248H

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000115989
Gene: ENSMUSG00000021318
AA Change: R248H

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
Predicted Effect probably benign
Transcript: ENSMUST00000141194
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.6%
  • 10x: 98.8%
  • 20x: 97.0%
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: 211 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001K19Rik TCT TCTCCT 12: 110,668,448 (GRCm38) probably benign Het
2010300C02Rik T A 1: 37,625,035 (GRCm38) E594V probably benign Homo
2010300C02Rik C A 1: 37,625,036 (GRCm38) E594* probably null Homo
4930402H24Rik CC CCTGC 2: 130,770,752 (GRCm38) probably benign Het
4932415D10Rik TTCA T 10: 82,285,469 (GRCm38) probably benign Homo
4932438A13Rik TTATTAT TTATTATTATTATTACTATTAT 3: 37,050,754 (GRCm38) probably benign Het
A630001G21Rik CTGTT CT 1: 85,723,135 (GRCm38) probably benign Homo
Abcb11 C A 2: 69,243,518 (GRCm38) R1221L probably damaging Homo
Abcb4 GAAA G 5: 8,896,597 (GRCm38) probably benign Homo
Ahdc1 CT CTCGT 4: 133,062,759 (GRCm38) probably benign Homo
Alpk3 TCT TCTACT 7: 81,077,762 (GRCm38) probably benign Het
Amfr C G 8: 94,005,159 (GRCm38) G30R probably damaging Homo
Ankrd35 GC GCTAC 3: 96,683,849 (GRCm38) probably benign Homo
Anxa7 C T 14: 20,469,411 (GRCm38) G113E probably damaging Homo
Apc CAATAAAGC CAATAAAGCTAATAAAGC 18: 34,281,999 (GRCm38) probably benign Homo
Apol6 GTTT GTTTCTTT 15: 77,051,442 (GRCm38) probably null Homo
Arpc1b GGTGGC GGTGGCGTGGC 5: 145,126,787 (GRCm38) probably null Het
AY358078 C T 14: 51,805,698 (GRCm38) S281L unknown Homo
BC051142 CAG CAGAAG 17: 34,460,051 (GRCm38) probably benign Het
BC051142 GCA GCATCA 17: 34,460,068 (GRCm38) probably benign Het
Blm T TACCA 7: 80,463,774 (GRCm38) probably null Het
Blm ACCTGC ACCTGCCTGC 7: 80,463,771 (GRCm38) probably null Het
Blzf1 TTGT TT 1: 164,303,917 (GRCm38) probably null Homo
Btnl10 A AAGG 11: 58,923,931 (GRCm38) probably benign Homo
Cacna1a ACC ACCGCC 8: 84,638,720 (GRCm38) probably benign Het
Cacna1a ACC ACCCCC 8: 84,638,726 (GRCm38) probably benign Homo
Catsper2 TTC TTCTTTTACTTTGTC 2: 121,397,540 (GRCm38) probably benign Homo
Ccdc170 AC ACCCC 10: 4,561,029 (GRCm38) probably benign Het
Ccdc170 ACC ACCTCC 10: 4,561,023 (GRCm38) probably benign Het
Ccdc73 TAAG T 2: 104,991,840 (GRCm38) probably benign Homo
Ccnk TTCCCAC T 12: 108,202,507 (GRCm38) probably benign Het
Cdan1 A C 2: 120,724,971 (GRCm38) V763G probably damaging Het
Cdk6 A G 5: 3,344,211 (GRCm38) probably benign Het
Cdx1 GCTGCT GCTGCTTCTGCT 18: 61,019,878 (GRCm38) probably benign Het
Cdx1 TGCTGC TGCTGCCGCTGC 18: 61,019,874 (GRCm38) probably benign Het
Cfap46 CCTTCT CCTTCTTCT 7: 139,638,930 (GRCm38) probably benign Homo
Chd4 GC GCTCCCCC 6: 125,122,131 (GRCm38) probably benign Homo
Cluh CC CCTGAGGC 11: 74,669,533 (GRCm38) probably benign Het
Cluh GAGCCT GAGCCTAAGCCT 11: 74,669,524 (GRCm38) probably benign Het
Cluh AGCCTG AGCCTGCGCCTG 11: 74,669,519 (GRCm38) probably benign Het
Cluh CCCCGAGCC CCCCGAGCCCGAGCC 11: 74,669,514 (GRCm38) probably benign Het
Cntnap1 AGCCCC AGCCCCCGCCCC 11: 101,189,569 (GRCm38) probably benign Het
Cntnap1 GCCCCA GCCCCAACCCCA 11: 101,189,576 (GRCm38) probably benign Het
Cntnap1 GCCCCA GCCCCACCCCCA 11: 101,189,582 (GRCm38) probably benign Het
Cntnap1 CCCAGC CCCAGCGCCAGC 11: 101,189,590 (GRCm38) probably benign Het
Cul9 CTC CTCTTC 17: 46,500,858 (GRCm38) probably benign Het
Cul9 CTCTTC CTCTTCTTC 17: 46,500,846 (GRCm38) probably benign Het
Cyth2 C A 7: 45,813,042 (GRCm38) S102I possibly damaging Het
Dbr1 AGGAGG AGGAGGCGGAGG 9: 99,583,686 (GRCm38) probably benign Het
Dbr1 GGAGG GGAGGACGAGG 9: 99,583,699 (GRCm38) probably benign Het
Dhx8 GACCGA GACCGATACCGA 11: 101,738,179 (GRCm38) probably benign Homo
Dhx8 CGAGAC CGAGACGGAGAC 11: 101,738,182 (GRCm38) probably benign Homo
Dhx8 GAGACC GAGACCCAGACC 11: 101,738,189 (GRCm38) probably benign Homo
Dnah8 ACTGCCCCT ACT 17: 30,635,465 (GRCm38) probably benign Het
Dnah8 CCTCCCG C 17: 30,635,477 (GRCm38) probably benign Homo
Dnajb5 AGGTG A 4: 42,957,126 (GRCm38) probably null Het
Dusp10 G T 1: 184,037,056 (GRCm38) C73F probably damaging Homo
E4f1 CCG CCGACG 17: 24,455,192 (GRCm38) probably benign Homo
Eif3a TTA TTATTATA 19: 60,775,289 (GRCm38) probably benign Het
Fam81b TTC TTCGTC 13: 76,271,319 (GRCm38) probably benign Het
Fbxo22 G A 9: 55,209,382 (GRCm38) R56H probably damaging Het
Fcgr1 T C 3: 96,287,094 (GRCm38) D159G probably benign Homo
Fcgr1 CTTCT C 3: 96,284,504 (GRCm38) probably null Het
Fmn1 CCTCCT CCTCCTACTCCT 2: 113,525,778 (GRCm38) probably benign Het
Fmn1 CC CCCCCTGC 2: 113,525,781 (GRCm38) probably benign Het
Fmn1 CC CCTCCTTC 2: 113,525,784 (GRCm38) probably benign Het
G530012D18Rik GA GACAGAGATA 1: 85,577,178 (GRCm38) probably null Het
Gm16503 G A 4: 147,541,253 (GRCm38) G68E unknown Het
Gm19345 GGATGGCAGGTG GG 7: 19,857,602 (GRCm38) probably null Het
Gm4340 GCA GCAACA 10: 104,196,077 (GRCm38) probably benign Het
Gm4340 AGC AGCTGC 10: 104,196,097 (GRCm38) probably benign Het
Gm4340 AG AGCGG 10: 104,196,100 (GRCm38) probably benign Het
Gm6309 C T 5: 146,168,183 (GRCm38) V307I probably benign Het
Gpatch11 AAGAGG AAGAGGCAGAGG 17: 78,842,171 (GRCm38) probably benign Het
Gpatch11 AGGAA AGGAAGCGGAA 17: 78,842,180 (GRCm38) probably benign Het
Hoxa10 T A 6: 52,234,186 (GRCm38) Q250L possibly damaging Homo
Hrh1 T C 6: 114,481,123 (GRCm38) I455T possibly damaging Het
Hspa1b GCGCC GC 17: 34,957,129 (GRCm38) probably benign Homo
Iba57 GAAA GAAAAA 11: 59,161,505 (GRCm38) probably null Homo
Igf1r TGGAGC TGGAGCTGGAGAGGGAGC 7: 68,226,181 (GRCm38) probably benign Het
Il17rd CGG CGGAGG 14: 27,082,680 (GRCm38) probably benign Het
Il2 TGG TGGGGCTTGAAGCGG 3: 37,125,828 (GRCm38) probably benign Het
Il2 AGGTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG AGCTGCTGCTGCTGCTGCTGCTGCTG 3: 37,125,764 (GRCm38) probably benign Het
Kcng4 G T 8: 119,633,519 (GRCm38) Y39* probably null Homo
Klra2 G GAAATCCACAT 6: 131,221,852 (GRCm38) probably null Het
Kmt2b TCCTCC TCCTCCCCCTCC 7: 30,586,366 (GRCm38) probably benign Het
Kmt2b CCTCCT CCTCCTTCTCCT 7: 30,586,367 (GRCm38) probably benign Het
Kmt2b CCTCCT CCTCCTGCTCCT 7: 30,586,370 (GRCm38) probably benign Het
Kmt2b TCCTCC TCCTCCCCCTCC 7: 30,586,378 (GRCm38) probably benign Het
Krt10 TCCGCC TCCGCCGCC 11: 99,386,197 (GRCm38) probably benign Homo
Krt10 TCCTCC TCCTCCGCCTCC 11: 99,389,273 (GRCm38) probably benign Het
Krt10 TCC TCCTCCACC 11: 99,389,279 (GRCm38) probably benign Homo
Krtap28-10 TCCCACA TCCCACACCCACA 1: 83,042,123 (GRCm38) probably benign Homo
Krtap4-2 A ACAC 11: 99,635,013 (GRCm38) probably benign Het
Krtap9-3 AC ACAGGTGTCGC 11: 99,598,004 (GRCm38) probably benign Het
Las1l AGG AGGGGG X: 95,940,821 (GRCm38) probably benign Het
Las1l AGG AGGCGG X: 95,940,827 (GRCm38) probably benign Het
Las1l GAG GAGCAG X: 95,940,829 (GRCm38) probably benign Het
Lrit3 TGC TGCAGC 3: 129,788,806 (GRCm38) probably benign Het
Lrit3 GCT GCTTCT 3: 129,788,810 (GRCm38) probably benign Het
Lrit3 AC ACATTC 3: 129,803,913 (GRCm38) probably null Homo
Luzp1 A AGGTGGCCTCTTCAGT 4: 136,543,196 (GRCm38) probably benign Het
Mamld1 AGC AGCCGC X: 71,118,835 (GRCm38) probably benign Het
Mamld1 GCA GCAACA X: 71,118,839 (GRCm38) probably benign Het
Mapk8ip3 G A 17: 24,902,119 (GRCm38) probably null Homo
Mbd1 TGTCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGC TATCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGC 18: 74,273,573 (GRCm38) probably benign Het
Nat8f2 T A 6: 85,867,686 (GRCm38) L231F possibly damaging Homo
Nfxl1 CC CCGGGGAC 5: 72,559,121 (GRCm38) probably benign Het
Noc2l GGTAG GG 4: 156,241,501 (GRCm38) probably benign Homo
Noc2l CTG CTGTTG 4: 156,240,095 (GRCm38) probably benign Het
Noc2l GCT GCTTCT 4: 156,240,094 (GRCm38) probably benign Het
Nxpe5 C T 5: 138,229,934 (GRCm38) probably benign Het
Olfr1038-ps CAG CAGAG 2: 86,122,760 (GRCm38) probably null Homo
Olfr418 GGGCTGCTTGTGGCAAT G 1: 173,270,630 (GRCm38) probably null Het
Olfr568 CT CTAATTGCCTT 7: 102,877,233 (GRCm38) probably benign Homo
Olfr644 G C 7: 104,071,292 (GRCm38) probably benign Homo
Olfr890 A G 9: 38,143,188 (GRCm38) I13V probably benign Homo
Osmr C CTCA 15: 6,837,706 (GRCm38) probably null Homo
Patl2 C CTGA 2: 122,126,145 (GRCm38) probably benign Het
Patl2 GC GCTAC 2: 122,126,144 (GRCm38) probably null Het
Patl2 CTG CTGTTG 2: 122,126,136 (GRCm38) probably benign Het
Pdik1l GTTTTTGTTTT GTTTTTGTTTTTTTTTTGTTTT 4: 134,279,367 (GRCm38) probably null Homo
Pdik1l ACCACC ACCACCCCCACC 4: 134,279,506 (GRCm38) probably benign Het
Phc1 GCTG GCTGCTTCTG 6: 122,323,598 (GRCm38) probably benign Het
Piezo1 G A 8: 122,495,569 (GRCm38) R503W probably damaging Homo
Pitrm1 TTTTA T 13: 6,560,596 (GRCm38) probably benign Homo
Pkdrej TG TGGGAGCG 15: 85,819,680 (GRCm38) probably benign Homo
Pla2g4e AGGG A 2: 120,244,724 (GRCm38) probably benign Homo
Plekhs1 AC ACCTCCCCCGAGCC 19: 56,479,863 (GRCm38) probably benign Het
Pnmal1 CCTCATGATGCACCTGCTTCAACATC CCTCATGATGCACCTGCTTCAACATCTCATGATGCACCTGCTTCAACATC 7: 16,961,425 (GRCm38) probably benign Homo
Pnmal2 TGGA T 7: 16,946,006 (GRCm38) probably benign Het
Ppp1r3f C A X: 7,560,336 (GRCm38) G562V probably damaging Homo
Prr13 CTC CTCATC 15: 102,462,173 (GRCm38) probably benign Het
Prss41 CACA C 17: 23,844,097 (GRCm38) probably benign Het
Prtg GTAAC G 9: 72,857,081 (GRCm38) probably benign Het
Ptk2b C T 14: 66,173,849 (GRCm38) R411Q possibly damaging Homo
Ptms C CTTG 6: 124,914,461 (GRCm38) probably benign Homo
Ptms TTC TTCGTC 6: 124,914,459 (GRCm38) probably benign Homo
Ptms TCT TCTGCT 6: 124,914,457 (GRCm38) probably benign Homo
Ptpn23 G T 9: 110,387,633 (GRCm38) P1052T probably benign Homo
Rab3il1 C A 19: 10,033,751 (GRCm38) A264E probably damaging Homo
Rbm6 GCTGT G 9: 107,782,755 (GRCm38) probably null Homo
Rtbdn GGC GGCAGCTGC 8: 84,956,177 (GRCm38) probably benign Het
Rtbdn CGGC CGGCAGGGGC 8: 84,956,176 (GRCm38) probably benign Het
Rtbdn AGCG AGCGTCCGCG 8: 84,956,168 (GRCm38) probably benign Het
Rtbdn TAG TAGGGGCAG 8: 84,956,161 (GRCm38) probably benign Het
Sbp G GCTGACAACAAAGATC 17: 23,945,389 (GRCm38) probably benign Het
Sbp CAAAG CAAAGCTGCTGACAAAAAAG 17: 23,945,382 (GRCm38) probably benign Het
Setd1a GTGGTAGTG GTGGTAGTGTTGGTAGTG 7: 127,785,312 (GRCm38) probably benign Het
Sfswap GCCCACTC GCCCACTCATCCCACTC 5: 129,569,756 (GRCm38) probably benign Het
Six3 CGG CGGGGG 17: 85,621,368 (GRCm38) probably benign Het
Six3 CGG CGGGGG 17: 85,621,365 (GRCm38) probably benign Het
Six3 GGC GGCAGC 17: 85,621,363 (GRCm38) probably benign Het
Six3 CGG CGGGGG 17: 85,621,362 (GRCm38) probably benign Het
Six3 GCG GCGCCG 17: 85,621,358 (GRCm38) probably benign Het
Six3 GGC GGCAGC 17: 85,621,357 (GRCm38) probably benign Het
Slc12a1 ACC ACCTTTGGCCACAACTCC 2: 125,154,214 (GRCm38) probably benign Homo
Smarca2 CAGCAGCAGCAGCAGCAGCA CAGCAGCAGCAGCAGCAGCAGCAGCA 19: 26,630,999 (GRCm38) probably benign Homo
Spaca1 TCGCTC TCGCTCGCGCTC 4: 34,049,836 (GRCm38) probably benign Het
Spag1 TTC TTCGTC 15: 36,197,733 (GRCm38) probably benign Het
Spag17 AGG AGGCGG 3: 100,056,257 (GRCm38) probably benign Het
Srebf2 G T 15: 82,185,335 (GRCm38) A693S probably damaging Homo
Srpk2 T C 5: 23,545,196 (GRCm38) probably null Homo
Sry AACTGCT A Y: 2,663,195 (GRCm38) probably benign Het
Sry TGG TGGGGG Y: 2,662,838 (GRCm38) probably benign Homo
Sry GTG GTGTTG Y: 2,662,837 (GRCm38) probably benign Homo
St5 CACCACACTGGGGCAGCCCACACTGGGGCAG CCCCACACTGGGGCAG 7: 109,556,921 (GRCm38) probably benign Het
Stard9 C CTAAGGGACTAGTAGG 2: 120,696,085 (GRCm38) probably benign Het
Supt20 GCAGCA GCAGCAACAGCA 3: 54,727,657 (GRCm38) probably benign Het
Supt20 CAGCAG CAGCAGGAGCAG 3: 54,727,658 (GRCm38) probably benign Het
Supt20 CAGCAG CAGCAGAAGCAG 3: 54,727,661 (GRCm38) probably benign Het
Tcof1 GGGTA G 18: 60,828,650 (GRCm38) probably benign Homo
Tdpoz3 A C 3: 93,826,674 (GRCm38) N219H probably benign Het
Tesk1 C CCCCG 4: 43,447,004 (GRCm38) probably null Homo
Tob1 CACA CACAACA 11: 94,214,451 (GRCm38) probably benign Het
Tob1 GCA GCAACA 11: 94,214,464 (GRCm38) probably benign Het
Tob1 A AGCC 11: 94,214,478 (GRCm38) probably benign Het
Trav15-2-dv6-2 AG AGAGG 14: 53,649,756 (GRCm38) probably benign Homo
Trav15-2-dv6-2 G GAAA 14: 53,649,757 (GRCm38) probably benign Homo
Trim63 GAGT G 4: 134,327,725 (GRCm38) probably benign Het
Tsen2 G GAGA 6: 115,560,077 (GRCm38) probably benign Het
Ttf2 TC TCCCC 3: 100,963,160 (GRCm38) probably benign Homo
Tusc1 ACCGCC ACCGCCCCCGCC 4: 93,335,313 (GRCm38) probably benign Homo
Ubqlnl TGAG T 7: 104,149,835 (GRCm38) probably benign Homo
Ubtf CCT CCTACT 11: 102,306,948 (GRCm38) probably null Het
Ubtf TCC TCCACC 11: 102,306,950 (GRCm38) probably benign Het
Vps13b G T 15: 35,846,957 (GRCm38) A2629S probably damaging Homo
Wasf3 G T 5: 146,470,250 (GRCm38) R460L probably damaging Het
Zc3h13 TGCGAGATG TGCGAGATGAGCGAGATG 14: 75,323,599 (GRCm38) probably benign Homo
Zc3h13 ATGTGCGAG ATGTGCGAGGTGTGCGAG 14: 75,323,596 (GRCm38) probably benign Homo
Zfhx3 GCAACA GCAACAACAACAACA 8: 108,956,088 (GRCm38) probably benign Het
Zfhx3 AGCA AGCAACAGACGCA 8: 108,956,102 (GRCm38) probably benign Het
Zfhx3 GCA GCAACAGCACCA 8: 108,956,103 (GRCm38) probably benign Het
Zfp111 TCA TCAACA 7: 24,199,805 (GRCm38) probably benign Homo
Zfp112 CATGA CATGATGA 7: 24,125,407 (GRCm38) probably benign Homo
Zfp26 C A 9: 20,438,546 (GRCm38) A241S probably benign Homo
Zfp282 CGG CGGGGG 6: 47,904,799 (GRCm38) probably benign Het
Zfp282 CGG CGGGGG 6: 47,904,790 (GRCm38) probably benign Het
Zfp335 TC TCCCC 2: 164,907,484 (GRCm38) probably benign Het
Zfp335 TCC TCCGCC 2: 164,907,475 (GRCm38) probably benign Het
Zfp335 CTC CTCGTC 2: 164,907,474 (GRCm38) probably benign Het
Zfp462 ACC ACCTCAGCCACAGTCGCC 4: 55,009,760 (GRCm38) probably benign Het
Zfp462 CCACC CCACCTCAGCCACAGTCACC 4: 55,009,758 (GRCm38) probably benign Het
Zfp598 AC ACCACCGC 17: 24,680,791 (GRCm38) probably benign Het
Zfp598 ACCACC ACCACCGCCACC 17: 24,680,782 (GRCm38) probably benign Het
Zfp598 ACCACC ACCACCCCCACC 17: 24,680,776 (GRCm38) probably benign Het
Zfp831 TC TCCGC 2: 174,645,483 (GRCm38) probably benign Het
Zfp831 CTC CTCATC 2: 174,645,476 (GRCm38) probably benign Het
Zfp831 TCC TCCCCC 2: 174,645,471 (GRCm38) probably benign Het
Zfp93 CAGGCATAG CAG 7: 24,275,389 (GRCm38) probably benign Homo
Zscan10 TGACG TG 17: 23,609,445 (GRCm38) probably benign Homo
Other mutations in Gli3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00417:Gli3 APN 13 15,644,299 (GRCm38) missense probably damaging 1.00
IGL00471:Gli3 APN 13 15,723,769 (GRCm38) critical splice donor site probably null
IGL00484:Gli3 APN 13 15,644,392 (GRCm38) missense possibly damaging 0.84
IGL00588:Gli3 APN 13 15,644,392 (GRCm38) missense possibly damaging 0.84
IGL01161:Gli3 APN 13 15,548,398 (GRCm38) critical splice acceptor site probably null
IGL01633:Gli3 APN 13 15,648,634 (GRCm38) missense probably damaging 1.00
IGL01799:Gli3 APN 13 15,726,161 (GRCm38) missense probably benign 0.00
IGL01861:Gli3 APN 13 15,725,325 (GRCm38) missense probably damaging 1.00
IGL02063:Gli3 APN 13 15,726,372 (GRCm38) missense possibly damaging 0.94
IGL02112:Gli3 APN 13 15,662,514 (GRCm38) missense probably damaging 1.00
IGL02255:Gli3 APN 13 15,648,719 (GRCm38) missense probably damaging 1.00
IGL02270:Gli3 APN 13 15,726,786 (GRCm38) utr 3 prime probably benign
IGL02336:Gli3 APN 13 15,720,289 (GRCm38) missense probably damaging 1.00
IGL02346:Gli3 APN 13 15,723,693 (GRCm38) missense probably damaging 1.00
IGL02744:Gli3 APN 13 15,613,886 (GRCm38) critical splice donor site probably null
IGL02877:Gli3 APN 13 15,724,742 (GRCm38) missense probably damaging 1.00
IGL02975:Gli3 APN 13 15,724,568 (GRCm38) missense probably damaging 1.00
IGL03018:Gli3 APN 13 15,660,132 (GRCm38) missense probably damaging 1.00
IGL03378:Gli3 APN 13 15,644,420 (GRCm38) missense probably damaging 1.00
IGL03406:Gli3 APN 13 15,648,581 (GRCm38) missense probably damaging 1.00
Capone UTSW 13 15,715,034 (GRCm38) missense probably damaging 1.00
Carpals UTSW 13 15,713,650 (GRCm38) critical splice donor site probably null
Ness UTSW 13 15,723,555 (GRCm38) missense probably damaging 1.00
R0110:Gli3 UTSW 13 15,724,785 (GRCm38) missense probably damaging 1.00
R0329:Gli3 UTSW 13 15,723,558 (GRCm38) missense probably damaging 0.98
R0330:Gli3 UTSW 13 15,723,558 (GRCm38) missense probably damaging 0.98
R0360:Gli3 UTSW 13 15,724,764 (GRCm38) missense probably benign 0.32
R0364:Gli3 UTSW 13 15,724,764 (GRCm38) missense probably benign 0.32
R0469:Gli3 UTSW 13 15,724,785 (GRCm38) missense probably damaging 1.00
R0616:Gli3 UTSW 13 15,662,406 (GRCm38) missense possibly damaging 0.75
R0639:Gli3 UTSW 13 15,724,715 (GRCm38) missense probably damaging 1.00
R1072:Gli3 UTSW 13 15,713,605 (GRCm38) missense probably damaging 1.00
R1257:Gli3 UTSW 13 15,725,996 (GRCm38) nonsense probably null
R1270:Gli3 UTSW 13 15,723,744 (GRCm38) missense probably benign 0.02
R1424:Gli3 UTSW 13 15,726,314 (GRCm38) missense probably benign 0.00
R1481:Gli3 UTSW 13 15,613,850 (GRCm38) missense probably damaging 0.99
R1596:Gli3 UTSW 13 15,725,471 (GRCm38) missense possibly damaging 0.74
R1628:Gli3 UTSW 13 15,726,312 (GRCm38) missense probably benign 0.00
R1721:Gli3 UTSW 13 15,726,297 (GRCm38) missense probably benign 0.27
R1797:Gli3 UTSW 13 15,713,512 (GRCm38) missense probably damaging 0.99
R1813:Gli3 UTSW 13 15,648,691 (GRCm38) missense probably damaging 1.00
R1819:Gli3 UTSW 13 15,725,792 (GRCm38) nonsense probably null
R1988:Gli3 UTSW 13 15,726,380 (GRCm38) missense probably benign
R2132:Gli3 UTSW 13 15,725,549 (GRCm38) missense possibly damaging 0.74
R2352:Gli3 UTSW 13 15,662,392 (GRCm38) missense probably benign 0.02
R3085:Gli3 UTSW 13 15,660,941 (GRCm38) missense probably damaging 1.00
R3177:Gli3 UTSW 13 15,725,982 (GRCm38) missense probably benign 0.28
R3277:Gli3 UTSW 13 15,725,982 (GRCm38) missense probably benign 0.28
R4162:Gli3 UTSW 13 15,725,115 (GRCm38) missense possibly damaging 0.93
R4497:Gli3 UTSW 13 15,723,571 (GRCm38) missense possibly damaging 0.74
R4526:Gli3 UTSW 13 15,713,631 (GRCm38) missense probably damaging 1.00
R4979:Gli3 UTSW 13 15,724,464 (GRCm38) missense possibly damaging 0.87
R5327:Gli3 UTSW 13 15,548,507 (GRCm38) missense probably damaging 0.99
R5395:Gli3 UTSW 13 15,714,950 (GRCm38) missense probably damaging 1.00
R5494:Gli3 UTSW 13 15,725,982 (GRCm38) missense probably benign 0.28
R5609:Gli3 UTSW 13 15,548,453 (GRCm38) missense possibly damaging 0.82
R5718:Gli3 UTSW 13 15,478,165 (GRCm38) critical splice donor site probably null
R5810:Gli3 UTSW 13 15,644,309 (GRCm38) missense probably damaging 0.99
R5896:Gli3 UTSW 13 15,726,180 (GRCm38) missense probably benign 0.00
R5930:Gli3 UTSW 13 15,548,625 (GRCm38) missense probably damaging 1.00
R5964:Gli3 UTSW 13 15,726,162 (GRCm38) nonsense probably null
R5985:Gli3 UTSW 13 15,723,555 (GRCm38) missense probably damaging 1.00
R6224:Gli3 UTSW 13 15,725,145 (GRCm38) missense probably benign
R6278:Gli3 UTSW 13 15,725,113 (GRCm38) missense possibly damaging 0.69
R6330:Gli3 UTSW 13 15,724,732 (GRCm38) missense probably damaging 1.00
R6383:Gli3 UTSW 13 15,723,555 (GRCm38) missense probably damaging 1.00
R6523:Gli3 UTSW 13 15,713,650 (GRCm38) critical splice donor site probably null
R7072:Gli3 UTSW 13 15,725,695 (GRCm38) missense possibly damaging 0.51
R7085:Gli3 UTSW 13 15,715,062 (GRCm38) missense probably damaging 1.00
R7228:Gli3 UTSW 13 15,724,502 (GRCm38) missense probably benign 0.00
R7327:Gli3 UTSW 13 15,725,559 (GRCm38) missense probably benign 0.02
R7451:Gli3 UTSW 13 15,726,291 (GRCm38) missense possibly damaging 0.50
R7974:Gli3 UTSW 13 15,726,256 (GRCm38) missense probably benign 0.00
R8167:Gli3 UTSW 13 15,725,643 (GRCm38) missense probably benign 0.00
R8170:Gli3 UTSW 13 15,720,208 (GRCm38) missense probably benign
R8199:Gli3 UTSW 13 15,725,991 (GRCm38) missense probably benign 0.08
R8247:Gli3 UTSW 13 15,726,775 (GRCm38) missense possibly damaging 0.82
R8332:Gli3 UTSW 13 15,713,548 (GRCm38) missense possibly damaging 0.58
R8347:Gli3 UTSW 13 15,723,525 (GRCm38) missense probably damaging 1.00
R8559:Gli3 UTSW 13 15,660,132 (GRCm38) missense probably damaging 1.00
R8676:Gli3 UTSW 13 15,715,034 (GRCm38) missense probably damaging 1.00
R8905:Gli3 UTSW 13 15,726,531 (GRCm38) missense probably benign 0.01
R9099:Gli3 UTSW 13 15,726,735 (GRCm38) missense probably damaging 1.00
R9260:Gli3 UTSW 13 15,725,090 (GRCm38) missense probably damaging 0.99
R9317:Gli3 UTSW 13 15,715,073 (GRCm38) missense probably damaging 1.00
R9475:Gli3 UTSW 13 15,725,711 (GRCm38) missense possibly damaging 0.87
R9546:Gli3 UTSW 13 15,613,858 (GRCm38) missense probably benign 0.00
R9571:Gli3 UTSW 13 15,726,273 (GRCm38) missense probably benign 0.00
R9621:Gli3 UTSW 13 15,726,668 (GRCm38) missense probably benign 0.01
R9704:Gli3 UTSW 13 15,723,473 (GRCm38) missense probably damaging 1.00
R9787:Gli3 UTSW 13 15,725,801 (GRCm38) missense probably damaging 0.96
RF010:Gli3 UTSW 13 15,726,369 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCTTCCAGATAAAGACATGATGC -3'
(R):5'- TAGCTTAACCTTTGCAGCTTGC -3'

Sequencing Primer
(F):5'- CGTAGAACAGCTTTATTGCACAAGTC -3'
(R):5'- AACCTTTGCAGCTTGCTCTCC -3'
Posted On 2018-04-05