Incidental Mutation 'R1592:Gli1'
ID 175681
Institutional Source Beutler Lab
Gene Symbol Gli1
Ensembl Gene ENSMUSG00000025407
Gene Name GLI-Kruppel family member GLI1
Synonyms Zfp-5, Zfp5
MMRRC Submission 039629-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1592 (G1)
Quality Score 202
Status Validated
Chromosome 10
Chromosomal Location 127165751-127177448 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 127167198 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 685 (V685G)
Ref Sequence ENSEMBL: ENSMUSP00000026474 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026474] [ENSMUST00000069548] [ENSMUST00000219026] [ENSMUST00000219511]
AlphaFold P47806
Predicted Effect probably damaging
Transcript: ENSMUST00000026474
AA Change: V685G

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000026474
Gene: ENSMUSG00000025407
AA Change: V685G

DomainStartEndE-ValueType
low complexity region 222 237 N/A INTRINSIC
ZnF_C2H2 238 263 1.33e-1 SMART
ZnF_C2H2 271 298 5.72e-1 SMART
ZnF_C2H2 304 328 2.57e-3 SMART
ZnF_C2H2 334 359 1.92e-2 SMART
ZnF_C2H2 365 390 2.61e-4 SMART
low complexity region 419 431 N/A INTRINSIC
low complexity region 540 562 N/A INTRINSIC
low complexity region 639 655 N/A INTRINSIC
low complexity region 748 759 N/A INTRINSIC
low complexity region 850 873 N/A INTRINSIC
low complexity region 941 962 N/A INTRINSIC
low complexity region 985 1002 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000069548
SMART Domains Protein: ENSMUSP00000066455
Gene: ENSMUSG00000040345

DomainStartEndE-ValueType
PH 60 175 8.19e-10 SMART
RhoGAP 276 469 1.94e-55 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218656
Predicted Effect probably benign
Transcript: ENSMUST00000219026
Predicted Effect probably benign
Transcript: ENSMUST00000219511
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219640
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219808
Meta Mutation Damage Score 0.2310 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.1%
  • 20x: 91.9%
Validation Efficiency 100% (51/51)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Kruppel family of zinc finger proteins. The encoded transcription factor is activated by the sonic hedgehog signal transduction cascade and regulates stem cell proliferation. The activity and nuclear localization of this protein is negatively regulated by p53 in an inhibitory loop. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]
PHENOTYPE: Homozygotes for a targeted null mutation are apparently normal, but homozygotes that are also heterozygous for a Gli2 knockout die soon after birth with multiple defects, while Gli2 knockout heterozygotes are normally viable. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad10 T C 5: 121,783,444 (GRCm39) E327G probably damaging Het
Acp5 A T 9: 22,039,147 (GRCm39) W189R probably damaging Het
Adamts8 T C 9: 30,854,472 (GRCm39) S114P probably damaging Het
Alkbh3 A C 2: 93,838,769 (GRCm39) probably null Het
Ankrd13d T C 19: 4,332,919 (GRCm39) H27R probably benign Het
Aox1 A G 1: 58,339,853 (GRCm39) N382S probably benign Het
Aspg G A 12: 112,086,406 (GRCm39) R220Q probably benign Het
Atg16l2 C A 7: 100,941,193 (GRCm39) G403V probably damaging Het
Bcat1 G T 6: 144,955,784 (GRCm39) Q299K probably benign Het
Cc2d1b C T 4: 108,483,868 (GRCm39) probably benign Het
Cdh26 T C 2: 178,091,684 (GRCm39) F81S probably damaging Het
Cnbd2 A G 2: 156,177,322 (GRCm39) I222M probably benign Het
Ephb3 T C 16: 21,040,450 (GRCm39) V562A probably damaging Het
Fam186a T C 15: 99,838,199 (GRCm39) T2682A probably benign Het
Fat2 T C 11: 55,182,696 (GRCm39) probably null Het
Fat4 A T 3: 39,061,326 (GRCm39) D4303V probably damaging Het
Fbln1 T A 15: 85,115,665 (GRCm39) S234T probably benign Het
Gldc G A 19: 30,138,077 (GRCm39) probably benign Het
H2-T22 T C 17: 36,352,469 (GRCm39) N152S probably damaging Het
Inpp5d A T 1: 87,593,254 (GRCm39) D118V possibly damaging Het
Ints10 A G 8: 69,255,555 (GRCm39) I182V possibly damaging Het
Ipcef1 C T 10: 6,885,182 (GRCm39) probably null Het
Kcnj3 G T 2: 55,327,898 (GRCm39) R229L probably damaging Het
Klf11 C A 12: 24,703,737 (GRCm39) D57E probably damaging Het
Krt73 G T 15: 101,710,674 (GRCm39) S20* probably null Het
Lactbl1 A G 4: 136,363,187 (GRCm39) probably null Het
Mapk10 T C 5: 103,186,487 (GRCm39) D45G possibly damaging Het
Mfrp G A 9: 44,014,519 (GRCm39) C222Y probably damaging Het
Mga A T 2: 119,795,147 (GRCm39) I2944F possibly damaging Het
Msh2 A G 17: 87,987,441 (GRCm39) probably null Het
Nckap1l T A 15: 103,390,607 (GRCm39) probably null Het
Or5m9 A G 2: 85,877,333 (GRCm39) N169S probably benign Het
Pitpnm1 T A 19: 4,156,964 (GRCm39) probably null Het
Sik2 C T 9: 50,906,971 (GRCm39) V85I probably damaging Het
Slc26a7 T A 4: 14,552,470 (GRCm39) E229V probably benign Het
Spty2d1 A T 7: 46,648,637 (GRCm39) D97E possibly damaging Het
Tcaim G A 9: 122,647,838 (GRCm39) probably null Het
Tdrd3 T A 14: 87,743,322 (GRCm39) N417K probably damaging Het
Uggt1 C A 1: 36,241,939 (GRCm39) A332S probably benign Het
Usp53 A T 3: 122,727,699 (GRCm39) L961* probably null Het
Vmn1r223 A T 13: 23,433,837 (GRCm39) T144S possibly damaging Het
Wdfy1 G A 1: 79,683,972 (GRCm39) R388C probably damaging Het
Zfp995 T A 17: 22,106,321 (GRCm39) M1L probably damaging Het
Other mutations in Gli1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01543:Gli1 APN 10 127,168,347 (GRCm39) missense probably damaging 1.00
IGL01824:Gli1 APN 10 127,172,396 (GRCm39) missense probably benign 0.44
IGL02134:Gli1 APN 10 127,172,369 (GRCm39) missense probably benign 0.00
IGL02508:Gli1 APN 10 127,172,961 (GRCm39) missense probably benign 0.14
IGL02931:Gli1 APN 10 127,168,279 (GRCm39) missense probably benign 0.00
R0099:Gli1 UTSW 10 127,171,875 (GRCm39) missense probably damaging 1.00
R0590:Gli1 UTSW 10 127,167,432 (GRCm39) missense possibly damaging 0.82
R0792:Gli1 UTSW 10 127,168,446 (GRCm39) missense probably damaging 0.99
R1169:Gli1 UTSW 10 127,174,320 (GRCm39) missense probably damaging 1.00
R1519:Gli1 UTSW 10 127,170,138 (GRCm39) missense possibly damaging 0.93
R1522:Gli1 UTSW 10 127,168,446 (GRCm39) missense probably damaging 0.99
R1550:Gli1 UTSW 10 127,174,385 (GRCm39) missense probably damaging 1.00
R1879:Gli1 UTSW 10 127,169,606 (GRCm39) missense probably damaging 1.00
R1892:Gli1 UTSW 10 127,165,975 (GRCm39) missense possibly damaging 0.82
R1934:Gli1 UTSW 10 127,167,108 (GRCm39) missense possibly damaging 0.65
R2049:Gli1 UTSW 10 127,172,596 (GRCm39) missense probably damaging 1.00
R2088:Gli1 UTSW 10 127,167,369 (GRCm39) missense probably damaging 1.00
R2141:Gli1 UTSW 10 127,172,596 (GRCm39) missense probably damaging 1.00
R3803:Gli1 UTSW 10 127,173,934 (GRCm39) splice site probably benign
R3873:Gli1 UTSW 10 127,167,225 (GRCm39) missense probably damaging 1.00
R3874:Gli1 UTSW 10 127,166,088 (GRCm39) missense probably damaging 1.00
R3899:Gli1 UTSW 10 127,172,535 (GRCm39) missense possibly damaging 0.64
R4703:Gli1 UTSW 10 127,166,724 (GRCm39) missense possibly damaging 0.88
R5552:Gli1 UTSW 10 127,166,131 (GRCm39) missense probably benign 0.00
R5686:Gli1 UTSW 10 127,173,305 (GRCm39) missense probably benign 0.01
R5812:Gli1 UTSW 10 127,173,284 (GRCm39) missense probably damaging 1.00
R6053:Gli1 UTSW 10 127,170,184 (GRCm39) missense probably damaging 1.00
R7088:Gli1 UTSW 10 127,171,868 (GRCm39) missense probably damaging 1.00
R7162:Gli1 UTSW 10 127,168,306 (GRCm39) missense probably benign
R8229:Gli1 UTSW 10 127,168,317 (GRCm39) missense possibly damaging 0.93
R8322:Gli1 UTSW 10 127,167,477 (GRCm39) missense probably damaging 1.00
R8447:Gli1 UTSW 10 127,166,106 (GRCm39) missense probably benign 0.00
R8678:Gli1 UTSW 10 127,173,260 (GRCm39) missense probably null 0.65
R9123:Gli1 UTSW 10 127,167,202 (GRCm39) missense possibly damaging 0.81
R9377:Gli1 UTSW 10 127,173,359 (GRCm39) missense possibly damaging 0.56
Z1177:Gli1 UTSW 10 127,172,560 (GRCm39) missense probably benign 0.00
Z1177:Gli1 UTSW 10 127,171,867 (GRCm39) missense probably damaging 1.00
Z1177:Gli1 UTSW 10 127,170,126 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGGACCCCTAGCTTCATAAGGCTC -3'
(R):5'- TGCTCCGTGCCAGATATGCTTCAG -3'

Sequencing Primer
(F):5'- TGCCCATCACAGAAGTTCCA -3'
(R):5'- CCAGATATGCTTCAGCCAGG -3'
Posted On 2014-04-24