Incidental Mutation 'R6053:Gli1'
ID 484249
Institutional Source Beutler Lab
Gene Symbol Gli1
Ensembl Gene ENSMUSG00000025407
Gene Name GLI-Kruppel family member GLI1
Synonyms Zfp-5, Zfp5
MMRRC Submission 044221-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6053 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 127165751-127177448 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 127170184 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Asparagine at position 324 (H324N)
Ref Sequence ENSEMBL: ENSMUSP00000026474 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026474] [ENSMUST00000069548] [ENSMUST00000218236] [ENSMUST00000219026] [ENSMUST00000219511] [ENSMUST00000219671]
AlphaFold P47806
Predicted Effect probably damaging
Transcript: ENSMUST00000026474
AA Change: H324N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000026474
Gene: ENSMUSG00000025407
AA Change: H324N

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 probably benign
Transcript: ENSMUST00000218236
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218451
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218656
Predicted Effect probably benign
Transcript: ENSMUST00000219026
Predicted Effect probably benign
Transcript: ENSMUST00000219511
Predicted Effect probably benign
Transcript: ENSMUST00000219671
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219808
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219640
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 94.9%
Validation Efficiency
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T C 3: 121,964,666 (GRCm39) Y2158H probably damaging Het
Acap1 T G 11: 69,777,896 (GRCm39) probably null Het
Adamts4 T A 1: 171,080,284 (GRCm39) I279N possibly damaging Het
Akap3 A G 6: 126,843,496 (GRCm39) E705G probably damaging Het
Aoc1l3 A G 6: 48,965,422 (GRCm39) T477A probably benign Het
Arap3 C A 18: 38,123,824 (GRCm39) L398F probably damaging Het
Catsperg1 A T 7: 28,910,239 (GRCm39) L34* probably null Het
Ccdc171 T G 4: 83,713,456 (GRCm39) L1165R probably damaging Het
Ccdc3 G A 2: 5,233,838 (GRCm39) V221I probably benign Het
Cdc42ep4 T A 11: 113,619,812 (GRCm39) H193L probably damaging Het
Clcn1 G A 6: 42,277,208 (GRCm39) W361* probably null Het
Cntn2 T C 1: 132,446,090 (GRCm39) N832S probably benign Het
Col5a1 A T 2: 27,904,389 (GRCm39) probably benign Het
Cplane1 A G 15: 8,217,945 (GRCm39) D785G probably benign Het
Cspg4b C A 13: 113,457,260 (GRCm39) P1102Q possibly damaging Het
Ctc1 T A 11: 68,918,727 (GRCm39) M550K probably benign Het
Dennd5a T C 7: 109,532,952 (GRCm39) R273G probably damaging Het
Dnajb7 T C 15: 81,291,500 (GRCm39) E279G probably benign Het
Dop1a G T 9: 86,397,347 (GRCm39) G882W possibly damaging Het
Dvl2 A G 11: 69,896,819 (GRCm39) R238G possibly damaging Het
Ect2l A T 10: 18,017,592 (GRCm39) L629Q probably damaging Het
Enpp1 T C 10: 24,533,024 (GRCm39) D497G possibly damaging Het
Ep400 T C 5: 110,903,661 (GRCm39) M313V probably benign Het
Epn2 T C 11: 61,437,323 (GRCm39) Y83C probably damaging Het
Ercc3 T G 18: 32,379,807 (GRCm39) V338G probably damaging Het
Fkbp5 T C 17: 28,647,440 (GRCm39) I132V probably benign Het
Fn1 A T 1: 71,638,449 (GRCm39) Y1846N probably damaging Het
Foxg1 T C 12: 49,432,161 (GRCm39) L298P possibly damaging Het
Foxo3 G A 10: 42,073,210 (GRCm39) P436S probably benign Het
Gbx2 T C 1: 89,858,159 (GRCm39) T107A probably benign Het
Gnas T A 2: 174,141,645 (GRCm39) S605T possibly damaging Het
Ica1 C T 6: 8,630,783 (GRCm39) A431T probably benign Het
Il10ra C T 9: 45,167,601 (GRCm39) D319N probably damaging Het
Jmjd4 T A 11: 59,344,870 (GRCm39) H274Q probably damaging Het
Krt28 C A 11: 99,262,027 (GRCm39) L294F probably benign Het
Ltbp3 C A 19: 5,802,122 (GRCm39) T766K probably damaging Het
Man2b2 C A 5: 36,970,382 (GRCm39) M841I probably benign Het
Mmp14 T A 14: 54,673,347 (GRCm39) M85K probably benign Het
Mmp1b T A 9: 7,385,031 (GRCm39) D206V probably benign Het
Muc5b T C 7: 141,418,445 (GRCm39) F3797S probably benign Het
Mug1 A G 6: 121,842,697 (GRCm39) D561G probably benign Het
Myo18a T A 11: 77,709,002 (GRCm39) H471Q probably damaging Het
Nfkb2 A G 19: 46,300,251 (GRCm39) E873G probably damaging Het
Ngfr G A 11: 95,461,832 (GRCm39) H361Y possibly damaging Het
Nnt T C 13: 119,494,045 (GRCm39) T679A possibly damaging Het
Notch1 A T 2: 26,362,924 (GRCm39) N947K probably benign Het
Nrg4 A T 9: 55,143,774 (GRCm39) V94D probably benign Het
Nsd1 G T 13: 55,441,422 (GRCm39) C1631F probably damaging Het
Nutm1 T C 2: 112,079,435 (GRCm39) T827A probably benign Het
Or2t47 T A 11: 58,442,892 (GRCm39) M58L possibly damaging Het
Or4c114 T C 2: 88,904,898 (GRCm39) D179G probably damaging Het
Or5h19 A T 16: 58,856,351 (GRCm39) Y250N probably damaging Het
Or6p1 C A 1: 174,258,135 (GRCm39) S47* probably null Het
Or8b36 TTGCTGT TTGCTGTCTGCTGT 9: 37,937,837 (GRCm39) probably null Het
Orai3 C T 7: 127,373,050 (GRCm39) P184S probably benign Het
Paqr3 A T 5: 97,259,137 (GRCm39) S56T probably benign Het
Pard6b C T 2: 167,940,973 (GRCm39) T320M possibly damaging Het
Pgs1 T C 11: 117,892,535 (GRCm39) S166P probably damaging Het
Plaa T C 4: 94,478,121 (GRCm39) T114A probably benign Het
Plekha6 G C 1: 133,200,045 (GRCm39) R208P possibly damaging Het
Plin4 A T 17: 56,415,618 (GRCm39) D73E probably benign Het
Plxnb1 T C 9: 108,940,775 (GRCm39) L1550P probably damaging Het
Rbak A C 5: 143,160,437 (GRCm39) Y205* probably null Het
Rgs12 T C 5: 35,123,296 (GRCm39) F360L probably benign Het
Rgs22 A T 15: 36,100,153 (GRCm39) D187E probably benign Het
Sec24d C T 3: 123,072,871 (GRCm39) Q66* probably null Het
Sh2d5 T A 4: 137,982,873 (GRCm39) M85K probably damaging Het
Sos1 A G 17: 80,722,463 (GRCm39) V861A possibly damaging Het
Stk11ip T A 1: 75,510,899 (GRCm39) probably null Het
Tmem26 G A 10: 68,584,314 (GRCm39) E127K probably benign Het
Tmem41a T G 16: 21,753,739 (GRCm39) T211P possibly damaging Het
Tmem69 T A 4: 116,410,581 (GRCm39) M130L possibly damaging Het
Trak2 C A 1: 58,943,228 (GRCm39) R726L possibly damaging Het
Vmn1r231 A G 17: 21,110,081 (GRCm39) I278T probably damaging Het
Vwf G A 6: 125,577,628 (GRCm39) V490I probably benign Het
Wdr33 C T 18: 32,011,116 (GRCm39) T255I possibly damaging Het
Ylpm1 G T 12: 85,043,277 (GRCm39) W5L possibly damaging Het
Zfp169 A T 13: 48,652,334 (GRCm39) W28R 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
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
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'- TTAGGCGGCAGCTTCTCATG -3'
(R):5'- GATGCTCAGTACTTCATGCCATC -3'

Sequencing Primer
(F):5'- AGCTTCTCATGTCGCGGAG -3'
(R):5'- GTTTGTCTTTGTGCCCTAATCCTGG -3'
Posted On 2017-07-14