Incidental Mutation 'R9227:Glis1'
ID 699913
Institutional Source Beutler Lab
Gene Symbol Glis1
Ensembl Gene ENSMUSG00000034762
Gene Name GLIS family zinc finger 1
Synonyms GliH1
MMRRC Submission 068984-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9227 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 107434591-107635061 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 107568130 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 313 (S313P)
Ref Sequence ENSEMBL: ENSMUSP00000035650 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046005] [ENSMUST00000106738] [ENSMUST00000135835]
AlphaFold Q8K1M4
Predicted Effect probably benign
Transcript: ENSMUST00000046005
AA Change: S313P

PolyPhen 2 Score 0.447 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000035650
Gene: ENSMUSG00000034762
AA Change: S313P

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 benign
Transcript: ENSMUST00000106738
AA Change: S125P

PolyPhen 2 Score 0.447 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000102349
Gene: ENSMUSG00000034762
AA Change: S125P

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (79/79)
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adarb1 A T 10: 77,321,792 (GRCm38) F274I probably damaging Het
Adprhl1 C T 8: 13,221,974 (GRCm38) V1595I probably benign Het
Anxa6 A G 11: 55,007,868 (GRCm38) V160A probably benign Het
Appl1 T C 14: 26,923,735 (GRCm38) E706G unknown Het
Arhgap21 T C 2: 20,855,658 (GRCm38) T1313A possibly damaging Het
Armc2 T C 10: 41,947,939 (GRCm38) Y511C probably damaging Het
Atp1a1 A T 3: 101,592,434 (GRCm38) C111S probably damaging Het
Atp6v0d2 T A 4: 19,878,374 (GRCm38) M300L probably benign Het
BC027072 A G 17: 71,750,222 (GRCm38) L820P probably damaging Het
C1ra T C 6: 124,516,780 (GRCm38) C164R probably damaging Het
Cacna1h T C 17: 25,380,882 (GRCm38) Y1659C probably damaging Het
Catsperb T C 12: 101,549,794 (GRCm38) I563T probably benign Het
Cd180 TA TAA 13: 102,705,006 (GRCm38) probably null Het
Cd55b A T 1: 130,422,882 (GRCm38) L26* probably null Het
Cdc42bpa A G 1: 180,106,073 (GRCm38) N759S probably benign Het
Cenpj C T 14: 56,564,719 (GRCm38) E130K possibly damaging Het
Cep250 C T 2: 155,970,122 (GRCm38) A446V unknown Het
Chd7 C T 4: 8,805,272 (GRCm38) S777L probably benign Het
Chrm3 C A 13: 9,878,443 (GRCm38) V186L probably benign Het
Clrn2 A G 5: 45,463,941 (GRCm38) T226A probably damaging Het
Col3a1 C T 1: 45,343,978 (GRCm38) P1071S unknown Het
Dytn A T 1: 63,647,452 (GRCm38) V353D probably benign Het
Egfem1 G A 3: 29,357,168 (GRCm38) E155K probably benign Het
Eif3m A T 2: 105,001,360 (GRCm38) M285K probably damaging Het
Fam135b T C 15: 71,464,007 (GRCm38) K446R probably benign Het
Fam186a T C 15: 99,955,503 (GRCm38) T119A unknown Het
Frmd4a T C 2: 4,608,033 (GRCm38) S1025P possibly damaging Het
Fubp3 A G 2: 31,612,552 (GRCm38) H449R probably benign Het
Fyco1 A T 9: 123,819,146 (GRCm38) I1241N probably damaging Het
Gabpb2 A T 3: 95,204,687 (GRCm38) M77K probably damaging Het
Gfpt1 T A 6: 87,050,924 (GRCm38) I4K probably damaging Het
Gif G A 19: 11,760,384 (GRCm38) W386* probably null Het
Gm3376 T G Y: 3,774,819 (GRCm38) D5E probably damaging Het
Golga4 T A 9: 118,556,873 (GRCm38) M1021K possibly damaging Het
Grid2ip G A 5: 143,373,439 (GRCm38) R270Q probably damaging Het
Hps4 G A 5: 112,378,039 (GRCm38) S642N possibly damaging Het
Ifit1 A G 19: 34,647,836 (GRCm38) E124G possibly damaging Het
Ifna14 T C 4: 88,571,515 (GRCm38) D95G probably benign Het
Ilkap A C 1: 91,387,215 (GRCm38) I142S probably benign Het
Inpp5e C T 2: 26,398,604 (GRCm38) R588H probably damaging Het
Kif1b A C 4: 149,237,900 (GRCm38) M854R probably damaging Het
Lcn6 A T 2: 25,680,095 (GRCm38) K91M probably damaging Het
Lpin1 A T 12: 16,538,482 (GRCm38) S902R unknown Het
Lrig1 C A 6: 94,630,132 (GRCm38) C160F probably damaging Het
Mapk13 T C 17: 28,775,558 (GRCm38) I141T probably damaging Het
Mapkapk3 A G 9: 107,260,155 (GRCm38) L175P probably damaging Het
Micall2 A G 5: 139,716,072 (GRCm38) V472A unknown Het
Mmp15 T C 8: 95,366,331 (GRCm38) F113L probably benign Het
Msh2 T G 17: 87,719,289 (GRCm38) S738A probably benign Het
Myb C T 10: 21,154,713 (GRCm38) D62N probably benign Het
Myo1f T C 17: 33,576,450 (GRCm38) V53A probably damaging Het
Ncf1 A T 5: 134,221,864 (GRCm38) N367K probably benign Het
Nim1k C A 13: 119,712,582 (GRCm38) V259F probably damaging Het
Nme8 T G 13: 19,690,214 (GRCm38) I139L probably benign Het
Odam T C 5: 87,886,598 (GRCm38) F46L probably benign Het
Ogfr GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG 2: 180,595,266 (GRCm38) probably benign Het
Olfr8 G A 10: 78,956,095 (GRCm38) D297N possibly damaging Het
Pcdha9 A G 18: 36,998,901 (GRCm38) E341G probably damaging Het
Pmepa1 T C 2: 173,276,169 (GRCm38) T6A probably benign Het
Poglut1 A T 16: 38,534,806 (GRCm38) D219E possibly damaging Het
Racgap1 A G 15: 99,636,197 (GRCm38) S145P possibly damaging Het
Rasgef1a C T 6: 118,089,149 (GRCm38) T441I possibly damaging Het
Rbm6 T C 9: 107,787,299 (GRCm38) T844A probably benign Het
Rell1 T C 5: 63,939,762 (GRCm38) probably benign Het
Ripk3 A G 14: 55,785,846 (GRCm38) F134S probably benign Het
Rnf169 T C 7: 99,925,492 (GRCm38) D632G possibly damaging Het
Sclt1 A T 3: 41,711,196 (GRCm38) W146R probably benign Het
Setd5 T C 6: 113,121,794 (GRCm38) F796S possibly damaging Het
Slc24a5 G T 2: 125,080,648 (GRCm38) G110V probably damaging Het
Slc30a10 T A 1: 185,455,194 (GRCm38) M44K probably damaging Het
Slc38a10 T A 11: 120,105,955 (GRCm38) D772V probably benign Het
Thy1 C T 9: 44,046,707 (GRCm38) T44I probably damaging Het
Tinagl1 G T 4: 130,167,478 (GRCm38) S324Y probably benign Het
Tll2 T A 19: 41,104,997 (GRCm38) Y477F probably benign Het
Tmco1 C T 1: 167,308,563 (GRCm38) probably benign Het
Tmco6 T C 18: 36,741,666 (GRCm38) L402P probably damaging Het
Tnrc18 G T 5: 142,787,637 (GRCm38) A479D Het
Uba7 T C 9: 107,975,802 (GRCm38) V12A possibly damaging Het
Usp5 T C 6: 124,818,636 (GRCm38) D598G probably damaging Het
Vmn1r158 C T 7: 22,790,044 (GRCm38) V247I probably benign Het
Vpreb2 A G 16: 17,980,937 (GRCm38) N96D probably damaging Het
Zcchc17 A T 4: 130,337,135 (GRCm38) M87K probably damaging Het
Other mutations in Glis1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02157:Glis1 APN 4 107,627,561 (GRCm38) missense probably benign 0.01
IGL02450:Glis1 APN 4 107,627,529 (GRCm38) missense probably benign 0.25
IGL03167:Glis1 APN 4 107,435,905 (GRCm38) missense possibly damaging 0.90
IGL03189:Glis1 APN 4 107,615,051 (GRCm38) missense probably damaging 1.00
IGL03377:Glis1 APN 4 107,632,281 (GRCm38) missense probably damaging 0.98
glenys UTSW 4 107,627,543 (GRCm38) missense possibly damaging 0.91
R0551:Glis1 UTSW 4 107,568,119 (GRCm38) splice site probably null
R0981:Glis1 UTSW 4 107,615,042 (GRCm38) missense probably damaging 1.00
R1036:Glis1 UTSW 4 107,632,264 (GRCm38) missense probably benign 0.05
R1527:Glis1 UTSW 4 107,567,926 (GRCm38) missense probably damaging 0.96
R1741:Glis1 UTSW 4 107,568,347 (GRCm38) missense probably damaging 1.00
R2937:Glis1 UTSW 4 107,632,291 (GRCm38) missense possibly damaging 0.89
R2938:Glis1 UTSW 4 107,632,291 (GRCm38) missense possibly damaging 0.89
R4223:Glis1 UTSW 4 107,567,845 (GRCm38) missense probably benign 0.01
R4412:Glis1 UTSW 4 107,634,718 (GRCm38) missense probably damaging 0.99
R4587:Glis1 UTSW 4 107,627,543 (GRCm38) missense possibly damaging 0.91
R4685:Glis1 UTSW 4 107,567,645 (GRCm38) missense probably benign 0.00
R4900:Glis1 UTSW 4 107,619,564 (GRCm38) missense probably damaging 1.00
R5138:Glis1 UTSW 4 107,623,105 (GRCm38) frame shift probably null
R5167:Glis1 UTSW 4 107,634,694 (GRCm38) missense probably damaging 1.00
R5511:Glis1 UTSW 4 107,435,877 (GRCm38) missense probably damaging 0.99
R5568:Glis1 UTSW 4 107,619,635 (GRCm38) missense probably damaging 0.99
R5807:Glis1 UTSW 4 107,568,082 (GRCm38) missense probably benign 0.00
R6006:Glis1 UTSW 4 107,567,906 (GRCm38) missense probably damaging 1.00
R6180:Glis1 UTSW 4 107,627,513 (GRCm38) missense probably benign 0.06
R6219:Glis1 UTSW 4 107,631,905 (GRCm38) missense probably benign 0.27
R6856:Glis1 UTSW 4 107,435,879 (GRCm38) missense probably damaging 0.96
R7278:Glis1 UTSW 4 107,435,683 (GRCm38) start codon destroyed probably null 0.53
R7877:Glis1 UTSW 4 107,634,703 (GRCm38) missense probably damaging 1.00
R7937:Glis1 UTSW 4 107,627,526 (GRCm38) missense possibly damaging 0.68
R7940:Glis1 UTSW 4 107,632,375 (GRCm38) missense probably damaging 0.99
R7940:Glis1 UTSW 4 107,632,374 (GRCm38) missense probably damaging 1.00
R7954:Glis1 UTSW 4 107,619,657 (GRCm38) missense possibly damaging 0.82
R8078:Glis1 UTSW 4 107,567,902 (GRCm38) missense probably damaging 1.00
R8931:Glis1 UTSW 4 107,563,863 (GRCm38) missense probably benign 0.35
R9230:Glis1 UTSW 4 107,568,130 (GRCm38) missense probably benign 0.45
R9767:Glis1 UTSW 4 107,634,597 (GRCm38) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- AGATATCAATCCTGTCATCCACTC -3'
(R):5'- GAAGCAGGTGAAGTCTTCGC -3'

Sequencing Primer
(F):5'- CCTCCCAGACAGCTCTAGTTAG -3'
(R):5'- GTGAAGTCTTCGCCCTTGC -3'
Posted On 2022-02-07