Incidental Mutation 'R2088:Gli1'
ID 231599
Institutional Source Beutler Lab
Gene Symbol Gli1
Ensembl Gene ENSMUSG00000025407
Gene Name GLI-Kruppel family member GLI1
Synonyms Zfp-5, Zfp5
MMRRC Submission 040093-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2088 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 127165751-127177448 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 127167369 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Serine at position 628 (Y628S)
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: Y628S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000026474
Gene: ENSMUSG00000025407
AA Change: Y628S

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 0.0850 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 97% (66/68)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankk1 T C 9: 49,333,265 (GRCm39) probably benign Het
Ano5 T A 7: 51,237,454 (GRCm39) N759K possibly damaging Het
Arhgef10 A G 8: 15,033,898 (GRCm39) T1072A possibly damaging Het
BC107364 T C 3: 96,341,745 (GRCm39) T93A unknown Het
Canx C T 11: 50,201,217 (GRCm39) E97K possibly damaging Het
Casp8ap2 T C 4: 32,631,126 (GRCm39) L62P probably damaging Het
Cbfa2t3 C T 8: 123,364,725 (GRCm39) probably benign Het
Cmklr2 A T 1: 63,222,811 (GRCm39) probably null Het
Cmya5 A T 13: 93,229,320 (GRCm39) S1923T probably damaging Het
Cntnap1 T A 11: 101,073,373 (GRCm39) I618N probably damaging Het
Cox17 C G 16: 38,167,542 (GRCm39) P27R probably damaging Het
Ctnna3 A G 10: 64,708,986 (GRCm39) E675G probably damaging Het
Cul9 A G 17: 46,837,575 (GRCm39) L990P probably damaging Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Eif2d T C 1: 131,092,464 (GRCm39) V374A probably damaging Het
Fhdc1 T C 3: 84,382,033 (GRCm39) probably benign Het
Fryl T A 5: 73,222,804 (GRCm39) I1926F probably benign Het
Galnt4 A G 10: 98,945,046 (GRCm39) D257G probably damaging Het
Gatm A G 2: 122,428,629 (GRCm39) V344A probably benign Het
Gsdmc3 A C 15: 63,732,063 (GRCm39) probably null Het
Hap1 T C 11: 100,246,828 (GRCm39) T26A probably benign Het
Helz2 C T 2: 180,876,895 (GRCm39) G1200S probably benign Het
Insyn1 T C 9: 58,406,288 (GRCm39) F66S probably damaging Het
Iqgap2 C T 13: 96,028,171 (GRCm39) probably null Het
Itga3 T A 11: 94,943,320 (GRCm39) I895F probably benign Het
Klhl33 A T 14: 51,130,230 (GRCm39) C421* probably null Het
Klra2 T C 6: 131,219,789 (GRCm39) T131A probably damaging Het
Krt14 T C 11: 100,094,949 (GRCm39) E426G possibly damaging Het
Limd2 A G 11: 106,049,568 (GRCm39) F107L probably damaging Het
Lipo4 A T 19: 33,477,469 (GRCm39) N318K possibly damaging Het
Mab21l2 T G 3: 86,454,316 (GRCm39) D228A probably damaging Het
Moxd2 G A 6: 40,861,901 (GRCm39) H224Y probably damaging Het
Mpp4 T C 1: 59,162,624 (GRCm39) Y521C possibly damaging Het
Msto1 C T 3: 88,818,297 (GRCm39) A317T probably damaging Het
Mtmr4 T C 11: 87,501,793 (GRCm39) S559P probably damaging Het
Muc4 T A 16: 32,576,783 (GRCm39) H2094Q unknown Het
Ndufa11 C A 17: 57,024,922 (GRCm39) T28K probably damaging Het
Or2b4 A G 17: 38,116,686 (GRCm39) T217A probably benign Het
Or4f4b G T 2: 111,314,623 (GRCm39) A283S probably damaging Het
Orai2 C A 5: 136,179,610 (GRCm39) R155L probably damaging Het
Pde4c A G 8: 71,202,005 (GRCm39) D582G possibly damaging Het
Pde4dip T C 3: 97,661,749 (GRCm39) E609G probably null Het
Prune2 A G 19: 17,097,109 (GRCm39) D871G possibly damaging Het
Rbpms2 T A 9: 65,538,121 (GRCm39) L4Q probably damaging Het
Rhbg T C 3: 88,154,765 (GRCm39) Y213C probably damaging Het
Rplp0 T A 5: 115,700,562 (GRCm39) N243K possibly damaging Het
Rtp4 A T 16: 23,431,963 (GRCm39) H165L possibly damaging Het
Ryr2 C A 13: 11,677,115 (GRCm39) M3245I probably benign Het
Sh2b2 T A 5: 136,260,968 (GRCm39) M83L possibly damaging Het
Simc1 T C 13: 54,689,347 (GRCm39) I284T probably damaging Het
Skp2 C A 15: 9,113,786 (GRCm39) G376C probably damaging Het
Slc46a1 T C 11: 78,359,471 (GRCm39) S368P possibly damaging Het
St6galnac1 A G 11: 116,659,933 (GRCm39) S127P probably benign Het
Tatdn3 A G 1: 190,785,073 (GRCm39) I192T possibly damaging Het
Tmem25 C A 9: 44,707,383 (GRCm39) V239F possibly damaging Het
Tprkb A C 6: 85,909,922 (GRCm39) probably benign Het
Trappc10 A G 10: 78,032,168 (GRCm39) V1040A probably benign Het
Txnrd1 G A 10: 82,719,744 (GRCm39) probably benign Het
Uhrf1 A T 17: 56,625,089 (GRCm39) K544M probably damaging Het
Unc80 T A 1: 66,629,386 (GRCm39) H1294Q possibly damaging Het
Uspl1 T A 5: 149,146,560 (GRCm39) I437K probably damaging Het
Vmn1r232 A T 17: 21,133,999 (GRCm39) N200K possibly damaging Het
Vmn2r19 A T 6: 123,312,795 (GRCm39) I622F probably damaging Het
Znfx1 A G 2: 166,897,730 (GRCm39) F398S 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
R1592:Gli1 UTSW 10 127,167,198 (GRCm39) missense probably damaging 0.97
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
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'- GCAACATTTTCGGTGATGCTG -3'
(R):5'- TCTGCTTACACAGTCAGCC -3'

Sequencing Primer
(F):5'- GGGCTGTGGCGAATAGAC -3'
(R):5'- AGGTCCTCCCTGGCATC -3'
Posted On 2014-09-18