Incidental Mutation 'R1741:Glis1'
ID 200334
Institutional Source Beutler Lab
Gene Symbol Glis1
Ensembl Gene ENSMUSG00000034762
Gene Name GLIS family zinc finger 1
Synonyms GliH1
MMRRC Submission 039773-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1741 (G1)
Quality Score 163
Status Not validated
Chromosome 4
Chromosomal Location 107291788-107492258 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 107425544 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 197 (R197Q)
Ref Sequence ENSEMBL: ENSMUSP00000102349 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046005] [ENSMUST00000106738] [ENSMUST00000135835]
AlphaFold Q8K1M4
Predicted Effect possibly damaging
Transcript: ENSMUST00000046005
AA Change: R385Q

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000035650
Gene: ENSMUSG00000034762
AA Change: R385Q

DomainStartEndE-ValueType
low complexity region 50 62 N/A INTRINSIC
low complexity region 118 129 N/A INTRINSIC
low complexity region 242 255 N/A INTRINSIC
low complexity region 274 288 N/A INTRINSIC
low complexity region 334 357 N/A INTRINSIC
ZnF_C2H2 366 391 3.99e0 SMART
ZnF_C2H2 400 427 4.12e0 SMART
ZnF_C2H2 433 457 7.78e-3 SMART
ZnF_C2H2 463 487 1.45e-2 SMART
ZnF_C2H2 493 517 5.59e-4 SMART
low complexity region 543 557 N/A INTRINSIC
low complexity region 635 658 N/A INTRINSIC
low complexity region 666 686 N/A INTRINSIC
low complexity region 721 735 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000106738
AA Change: R197Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000102349
Gene: ENSMUSG00000034762
AA Change: R197Q

DomainStartEndE-ValueType
low complexity region 54 67 N/A INTRINSIC
low complexity region 86 100 N/A INTRINSIC
low complexity region 146 169 N/A INTRINSIC
ZnF_C2H2 178 203 3.99e0 SMART
ZnF_C2H2 212 239 4.12e0 SMART
ZnF_C2H2 245 269 7.78e-3 SMART
ZnF_C2H2 275 299 1.45e-2 SMART
ZnF_C2H2 305 329 5.59e-4 SMART
low complexity region 355 369 N/A INTRINSIC
low complexity region 447 470 N/A INTRINSIC
low complexity region 478 498 N/A INTRINSIC
low complexity region 533 547 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000135835
SMART Domains Protein: ENSMUSP00000118600
Gene: ENSMUSG00000034762

DomainStartEndE-ValueType
low complexity region 50 62 N/A INTRINSIC
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.5%
  • 20x: 92.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] GLIS1 is a GLI (MIM 165220)-related Kruppel-like zinc finger protein that functions as an activator and repressor of transcription (Kim et al., 2002 [PubMed 12042312]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Homozygous mice do not exhibit any overt abnormalities, including behavior, kidney or tooth morphology, up to 6 months of age. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034E13Rik A G 18: 52,793,578 (GRCm39) N37S probably damaging Het
Acad10 T C 5: 121,785,899 (GRCm39) K230R probably damaging Het
Actl7a A G 4: 56,744,252 (GRCm39) N260D probably benign Het
Adam24 T C 8: 41,132,642 (GRCm39) Y37H probably benign Het
Ahcy G A 2: 154,906,154 (GRCm39) A229V probably benign Het
Ap3b2 A G 7: 81,117,347 (GRCm39) V563A possibly damaging Het
Bcl9l T A 9: 44,420,986 (GRCm39) M1427K probably damaging Het
Btf3 C T 13: 98,452,804 (GRCm39) M1I probably null Het
Btg4 A T 9: 51,027,910 (GRCm39) I27L probably benign Het
Ccdc171 A G 4: 83,539,076 (GRCm39) Y366C probably damaging Het
Chd3 A G 11: 69,246,480 (GRCm39) Y1085H probably damaging Het
Cnot10 T C 9: 114,426,892 (GRCm39) D616G possibly damaging Het
Crlf1 C A 8: 70,953,556 (GRCm39) D243E probably damaging Het
Cyp2b23 A G 7: 26,372,502 (GRCm39) V371A possibly damaging Het
Dennd2a A G 6: 39,470,091 (GRCm39) S534P probably damaging Het
Eln A G 5: 134,758,038 (GRCm39) V185A unknown Het
Epor C T 9: 21,871,067 (GRCm39) G301D probably damaging Het
Fam83f T G 15: 80,576,468 (GRCm39) V373G possibly damaging Het
Fbxl21 A T 13: 56,684,915 (GRCm39) T340S probably benign Het
Fcgbpl1 G T 7: 27,857,279 (GRCm39) C2209F probably damaging Het
Fez1 T A 9: 36,755,029 (GRCm39) D9E probably damaging Het
Fsip2 T C 2: 82,820,256 (GRCm39) F5330L probably benign Het
Gm10277 TC T 11: 77,676,828 (GRCm39) probably null Het
Gpr158 A G 2: 21,832,359 (GRCm39) N1153S probably benign Het
Gramd4 T C 15: 85,975,730 (GRCm39) probably null Het
Hhatl T A 9: 121,618,125 (GRCm39) Y210F possibly damaging Het
Hltf T C 3: 20,140,352 (GRCm39) W422R probably damaging Het
Hspa5 T C 2: 34,662,704 (GRCm39) S87P possibly damaging Het
Il21 T C 3: 37,281,811 (GRCm39) H111R probably benign Het
Ip6k1 G A 9: 107,918,183 (GRCm39) G73S probably benign Het
Kdm5b A G 1: 134,545,755 (GRCm39) D972G possibly damaging Het
Kif21b C T 1: 136,083,880 (GRCm39) A709V probably damaging Het
Kmt2d T C 15: 98,743,115 (GRCm39) probably benign Het
Lrrc14b A G 13: 74,511,705 (GRCm39) L125P probably damaging Het
Mapk8ip3 A G 17: 25,118,828 (GRCm39) S1169P probably damaging Het
Me3 A T 7: 89,501,041 (GRCm39) Y584F probably damaging Het
Mxra7 T G 11: 116,707,070 (GRCm39) probably null Het
Nf1 T C 11: 79,334,757 (GRCm39) S870P probably benign Het
Npr2 G A 4: 43,643,350 (GRCm39) G525S probably damaging Het
Nyap1 A T 5: 137,731,387 (GRCm39) S726T probably damaging Het
Padi4 A G 4: 140,473,481 (GRCm39) V652A probably damaging Het
Pclo A G 5: 14,726,524 (GRCm39) probably benign Het
Pgm1 G A 4: 99,822,062 (GRCm39) probably null Het
Piezo2 A G 18: 63,154,244 (GRCm39) S2512P probably damaging Het
Ptbp3 A T 4: 59,482,624 (GRCm39) D386E probably damaging Het
Ptk2 A G 15: 73,114,255 (GRCm39) V701A possibly damaging Het
Ptpn3 A G 4: 57,254,922 (GRCm39) V154A probably damaging Het
Rassf4 T C 6: 116,616,450 (GRCm39) E287G probably damaging Het
Rnh1 C T 7: 140,743,936 (GRCm39) R174H probably benign Het
Scn9a T A 2: 66,317,938 (GRCm39) I1517F probably damaging Het
Sftpb C A 6: 72,282,797 (GRCm39) A90E probably benign Het
Slc39a14 T C 14: 70,556,193 (GRCm39) K61R probably damaging Het
Tmem132d A C 5: 127,861,922 (GRCm39) M733R probably benign Het
Tmem248 A G 5: 130,265,664 (GRCm39) I156V probably benign Het
Traf2 T C 2: 25,414,495 (GRCm39) D339G probably damaging Het
Trappc11 A G 8: 47,982,362 (GRCm39) probably null Het
Tuba8 T A 6: 121,199,727 (GRCm39) I137N possibly damaging Het
Txlnb A G 10: 17,714,695 (GRCm39) T376A probably damaging Het
Usp34 A G 11: 23,314,103 (GRCm39) T663A probably benign Het
Vmn2r26 T A 6: 124,038,431 (GRCm39) F669I probably damaging Het
Wdr95 G A 5: 149,518,861 (GRCm39) probably null Het
Wfdc8 T G 2: 164,450,789 (GRCm39) probably benign Het
Zfp64 A C 2: 168,768,238 (GRCm39) V458G probably benign Het
Zfp868 C T 8: 70,064,519 (GRCm39) G272D probably damaging Het
Other mutations in Glis1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02157:Glis1 APN 4 107,484,758 (GRCm39) missense probably benign 0.01
IGL02450:Glis1 APN 4 107,484,726 (GRCm39) missense probably benign 0.25
IGL03167:Glis1 APN 4 107,293,102 (GRCm39) missense possibly damaging 0.90
IGL03189:Glis1 APN 4 107,472,248 (GRCm39) missense probably damaging 1.00
IGL03377:Glis1 APN 4 107,489,478 (GRCm39) missense probably damaging 0.98
glenys UTSW 4 107,484,740 (GRCm39) missense possibly damaging 0.91
R0551:Glis1 UTSW 4 107,425,316 (GRCm39) splice site probably null
R0981:Glis1 UTSW 4 107,472,239 (GRCm39) missense probably damaging 1.00
R1036:Glis1 UTSW 4 107,489,461 (GRCm39) missense probably benign 0.05
R1527:Glis1 UTSW 4 107,425,123 (GRCm39) missense probably damaging 0.96
R2937:Glis1 UTSW 4 107,489,488 (GRCm39) missense possibly damaging 0.89
R2938:Glis1 UTSW 4 107,489,488 (GRCm39) missense possibly damaging 0.89
R4223:Glis1 UTSW 4 107,425,042 (GRCm39) missense probably benign 0.01
R4412:Glis1 UTSW 4 107,491,915 (GRCm39) missense probably damaging 0.99
R4587:Glis1 UTSW 4 107,484,740 (GRCm39) missense possibly damaging 0.91
R4685:Glis1 UTSW 4 107,424,842 (GRCm39) missense probably benign 0.00
R4900:Glis1 UTSW 4 107,476,761 (GRCm39) missense probably damaging 1.00
R5138:Glis1 UTSW 4 107,480,302 (GRCm39) frame shift probably null
R5167:Glis1 UTSW 4 107,491,891 (GRCm39) missense probably damaging 1.00
R5511:Glis1 UTSW 4 107,293,074 (GRCm39) missense probably damaging 0.99
R5568:Glis1 UTSW 4 107,476,832 (GRCm39) missense probably damaging 0.99
R5807:Glis1 UTSW 4 107,425,279 (GRCm39) missense probably benign 0.00
R6006:Glis1 UTSW 4 107,425,103 (GRCm39) missense probably damaging 1.00
R6180:Glis1 UTSW 4 107,484,710 (GRCm39) missense probably benign 0.06
R6219:Glis1 UTSW 4 107,489,102 (GRCm39) missense probably benign 0.27
R6856:Glis1 UTSW 4 107,293,076 (GRCm39) missense probably damaging 0.96
R7278:Glis1 UTSW 4 107,292,880 (GRCm39) start codon destroyed probably null 0.53
R7877:Glis1 UTSW 4 107,491,900 (GRCm39) missense probably damaging 1.00
R7937:Glis1 UTSW 4 107,484,723 (GRCm39) missense possibly damaging 0.68
R7940:Glis1 UTSW 4 107,489,572 (GRCm39) missense probably damaging 0.99
R7940:Glis1 UTSW 4 107,489,571 (GRCm39) missense probably damaging 1.00
R7954:Glis1 UTSW 4 107,476,854 (GRCm39) missense possibly damaging 0.82
R8078:Glis1 UTSW 4 107,425,099 (GRCm39) missense probably damaging 1.00
R8931:Glis1 UTSW 4 107,421,060 (GRCm39) missense probably benign 0.35
R9227:Glis1 UTSW 4 107,425,327 (GRCm39) missense probably benign 0.45
R9230:Glis1 UTSW 4 107,425,327 (GRCm39) missense probably benign 0.45
R9767:Glis1 UTSW 4 107,491,794 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- TTTGCTCCACACCACCAGGGTTTG -3'
(R):5'- CCACCATCCGGTGACATGGAAAAG -3'

Sequencing Primer
(F):5'- CACCAGGGTTTGCCACC -3'
(R):5'- TCTCTCAAATGCAGTGGACG -3'
Posted On 2014-05-23