Incidental Mutation 'R1527:Glis1'
ID 166274
Institutional Source Beutler Lab
Gene Symbol Glis1
Ensembl Gene ENSMUSG00000034762
Gene Name GLIS family zinc finger 1
Synonyms GliH1
MMRRC Submission 039567-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1527 (G1)
Quality Score 118
Status Not validated
Chromosome 4
Chromosomal Location 107291788-107492258 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 107425123 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 245 (S245P)
Ref Sequence ENSEMBL: ENSMUSP00000035650 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046005] [ENSMUST00000106738] [ENSMUST00000135835]
AlphaFold Q8K1M4
Predicted Effect probably damaging
Transcript: ENSMUST00000046005
AA Change: S245P

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000035650
Gene: ENSMUSG00000034762
AA Change: S245P

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 possibly damaging
Transcript: ENSMUST00000106738
AA Change: S57P

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000102349
Gene: ENSMUSG00000034762
AA Change: S57P

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: 99.0%
  • 3x: 98.0%
  • 10x: 95.3%
  • 20x: 89.7%
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110059E24Rik C A 19: 21,575,633 (GRCm39) C130F probably damaging Het
4933402N03Rik T C 7: 130,740,589 (GRCm39) D209G probably benign Het
Adam7 A G 14: 68,738,970 (GRCm39) V744A probably benign Het
Atr G T 9: 95,752,096 (GRCm39) R571I possibly damaging Het
C5ar1 A G 7: 15,982,118 (GRCm39) Y301H probably damaging Het
Cacna1d A G 14: 29,829,753 (GRCm39) I954T probably damaging Het
Ccdc157 A G 11: 4,101,795 (GRCm39) F42S probably damaging Het
Cfap251 T C 5: 123,425,408 (GRCm39) V789A probably benign Het
Chd2 A T 7: 73,140,362 (GRCm39) L622* probably null Het
Csmd3 T C 15: 47,811,483 (GRCm39) T1203A probably benign Het
Cxcl17 A G 7: 25,101,636 (GRCm39) V67A possibly damaging Het
Ddx4 T C 13: 112,758,773 (GRCm39) T263A possibly damaging Het
Eps8l1 A G 7: 4,474,393 (GRCm39) D288G probably benign Het
Fbxl4 A G 4: 22,386,154 (GRCm39) K254E probably benign Het
Gm11111 T C 5: 98,701,387 (GRCm39) probably benign Het
Haus3 A T 5: 34,311,397 (GRCm39) H544Q probably benign Het
Hmcn1 A G 1: 150,649,554 (GRCm39) V644A probably benign Het
Lmo7 T C 14: 102,114,264 (GRCm39) L2P probably damaging Het
Lonrf2 G A 1: 38,852,357 (GRCm39) P165S probably benign Het
Mga A G 2: 119,747,078 (GRCm39) T410A probably damaging Het
Mical3 T C 6: 121,001,740 (GRCm39) D584G probably damaging Het
Miga1 A T 3: 152,023,300 (GRCm39) F250L possibly damaging Het
Mroh1 A G 15: 76,336,463 (GRCm39) D1553G probably benign Het
Myof T C 19: 37,913,067 (GRCm39) Y1462C probably damaging Het
Notch4 T C 17: 34,784,718 (GRCm39) C144R probably damaging Het
Obox1 T C 7: 15,289,250 (GRCm39) V55A probably damaging Het
Or14j8 T A 17: 38,263,720 (GRCm39) H65L possibly damaging Het
Or4a69 C T 2: 89,312,876 (GRCm39) G201D probably benign Het
Or6c69c T A 10: 129,911,061 (GRCm39) S261T probably damaging Het
Pclo T C 5: 14,729,662 (GRCm39) probably benign Het
Prr14l C T 5: 32,985,293 (GRCm39) V1401I possibly damaging Het
Rad51ap1 T C 6: 126,905,130 (GRCm39) probably null Het
Rev3l T A 10: 39,698,818 (GRCm39) V1105D probably damaging Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Sgsm2 A T 11: 74,744,674 (GRCm39) C848* probably null Het
Slc39a10 A T 1: 46,858,422 (GRCm39) V625E probably benign Het
Spry4 C T 18: 38,723,630 (GRCm39) M44I probably benign Het
Stat5b A T 11: 100,699,220 (GRCm39) probably null Het
Tas2r126 T C 6: 42,412,070 (GRCm39) I201T probably benign Het
Tasor T C 14: 27,202,050 (GRCm39) probably null Het
Tex44 A G 1: 86,355,368 (GRCm39) T426A probably benign Het
Tln2 T C 9: 67,179,950 (GRCm39) D807G possibly damaging Het
Tlr9 A G 9: 106,100,949 (GRCm39) N80S probably benign Het
Trpm7 A C 2: 126,672,082 (GRCm39) H579Q probably benign Het
Ufd1 T C 16: 18,633,661 (GRCm39) S29P probably damaging Het
Ugt2a3 G T 5: 87,473,457 (GRCm39) Q487K probably damaging Het
Zfyve9 A G 4: 108,552,964 (GRCm39) probably null 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
R1741:Glis1 UTSW 4 107,425,544 (GRCm39) missense probably damaging 1.00
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'- TCCAGTGCCAGCCTTTCATAATCAC -3'
(R):5'- ATGCTTCAAGCTGCAAGCTGCC -3'

Sequencing Primer
(F):5'- TTTGTGAACGGCAGCCTC -3'
(R):5'- TGCAAGCTGCCCTCCTG -3'
Posted On 2014-04-13