Incidental Mutation 'IGL03377:Glis1'
ID 420551
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Glis1
Ensembl Gene ENSMUSG00000034762
Gene Name GLIS family zinc finger 1
Synonyms GliH1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03377
Quality Score
Status
Chromosome 4
Chromosomal Location 107434591-107635061 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to G at 107632281 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 688 (H688Q)
Ref Sequence ENSEMBL: ENSMUSP00000035650 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046005] [ENSMUST00000106738]
AlphaFold Q8K1M4
Predicted Effect probably damaging
Transcript: ENSMUST00000046005
AA Change: H688Q

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000035650
Gene: ENSMUSG00000034762
AA Change: H688Q

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: H500Q

PolyPhen 2 Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000102349
Gene: ENSMUSG00000034762
AA Change: H500Q

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 noncoding transcript
Transcript: ENSMUST00000125573
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138211
Coding Region Coverage
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg3 T A 5: 104,948,390 I489L probably benign Het
Acox3 T C 5: 35,594,332 L237P probably damaging Het
Ahi1 T G 10: 21,018,004 I878S possibly damaging Het
Alox15 T A 11: 70,349,662 Y231F probably damaging Het
Asxl1 A T 2: 153,396,780 K342M probably damaging Het
Atl2 T C 17: 79,865,090 I150M probably damaging Het
Bag6 T C 17: 35,144,982 Y822H probably damaging Het
Ccdc171 T C 4: 83,663,517 Y628H probably damaging Het
Ceacam5 T A 7: 17,715,131 Y141N probably benign Het
Ces1a A G 8: 93,039,488 V166A probably damaging Het
Chrdl2 G A 7: 100,022,052 A126T probably benign Het
Cyp2d26 T C 15: 82,790,554 E409G possibly damaging Het
Dicer1 T C 12: 104,712,197 I621V probably damaging Het
Enpp1 T A 10: 24,660,283 probably null Het
Epha2 T A 4: 141,322,412 S776R probably benign Het
Fam107b A T 2: 3,778,444 E52V probably damaging Het
Fam169a A G 13: 97,091,873 N18S probably benign Het
Fbxw21 A T 9: 109,139,529 F460I probably benign Het
Fgfr2 A T 7: 130,198,517 I329N probably damaging Het
Fndc7 T C 3: 108,876,532 S254G probably benign Het
Grip1 A G 10: 120,055,032 E898G probably damaging Het
Gtf2a1l T A 17: 88,711,593 D368E probably benign Het
Gucy1a1 T A 3: 82,106,015 H440L probably damaging Het
H2-M10.5 A T 17: 36,773,485 D113V probably benign Het
Hook2 G T 8: 85,001,335 E554* probably null Het
Itpr2 A C 6: 146,329,715 V1182G probably damaging Het
Itpr2 T A 6: 146,329,758 T1135S probably benign Het
Kdm4c T C 4: 74,271,255 I69T possibly damaging Het
Klhl31 A T 9: 77,651,063 K354* probably null Het
Krt222 T A 11: 99,236,513 K159* probably null Het
Loxhd1 A G 18: 77,441,673 E2004G possibly damaging Het
Man2a2 A T 7: 80,359,052 probably null Het
Med24 A G 11: 98,705,136 F963L possibly damaging Het
Mphosph8 A G 14: 56,693,486 E744G probably damaging Het
Mypn A G 10: 63,192,865 S140P probably benign Het
Npc1 A G 18: 12,211,821 F331L probably benign Het
Obscn C A 11: 58,999,873 G1798W probably damaging Het
Olfr73 A T 2: 88,034,245 V298D probably damaging Het
Patj C T 4: 98,465,104 P110L probably damaging Het
Pkhd1l1 T G 15: 44,484,351 probably null Het
Prdm5 A G 6: 65,859,473 H256R possibly damaging Het
Ralgps1 A G 2: 33,172,461 Y267H probably damaging Het
Rfpl4 T G 7: 5,110,465 Y239S probably damaging Het
Rnpepl1 A T 1: 92,919,231 M592L probably benign Het
Serpinc1 A T 1: 160,993,442 H32L probably damaging Het
Skint5 T A 4: 113,763,538 T660S unknown Het
Slc26a2 T C 18: 61,198,586 N591S probably damaging Het
Slc9b2 C T 3: 135,336,358 A466V probably damaging Het
Slco1a5 T A 6: 142,234,766 T637S probably benign Het
Snx25 A G 8: 46,080,301 probably benign Het
Szt2 T C 4: 118,402,397 probably benign Het
Vmn1r183 A G 7: 24,055,392 M207V possibly damaging Het
Wdcp T G 12: 4,850,691 Y182* probably null Het
Zc3h13 A G 14: 75,293,976 T105A possibly damaging Het
Zfp933 T C 4: 147,828,711 K30R possibly damaging Het
Other mutations in Glis1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02157:Glis1 APN 4 107627561 missense probably benign 0.01
IGL02450:Glis1 APN 4 107627529 missense probably benign 0.25
IGL03167:Glis1 APN 4 107435905 missense possibly damaging 0.90
IGL03189:Glis1 APN 4 107615051 missense probably damaging 1.00
glenys UTSW 4 107627543 missense possibly damaging 0.91
R0551:Glis1 UTSW 4 107568119 splice site probably null
R0981:Glis1 UTSW 4 107615042 missense probably damaging 1.00
R1036:Glis1 UTSW 4 107632264 missense probably benign 0.05
R1527:Glis1 UTSW 4 107567926 missense probably damaging 0.96
R1741:Glis1 UTSW 4 107568347 missense probably damaging 1.00
R2937:Glis1 UTSW 4 107632291 missense possibly damaging 0.89
R2938:Glis1 UTSW 4 107632291 missense possibly damaging 0.89
R4223:Glis1 UTSW 4 107567845 missense probably benign 0.01
R4412:Glis1 UTSW 4 107634718 missense probably damaging 0.99
R4587:Glis1 UTSW 4 107627543 missense possibly damaging 0.91
R4685:Glis1 UTSW 4 107567645 missense probably benign 0.00
R4900:Glis1 UTSW 4 107619564 missense probably damaging 1.00
R5138:Glis1 UTSW 4 107623105 frame shift probably null
R5167:Glis1 UTSW 4 107634694 missense probably damaging 1.00
R5511:Glis1 UTSW 4 107435877 missense probably damaging 0.99
R5568:Glis1 UTSW 4 107619635 missense probably damaging 0.99
R5807:Glis1 UTSW 4 107568082 missense probably benign 0.00
R6006:Glis1 UTSW 4 107567906 missense probably damaging 1.00
R6180:Glis1 UTSW 4 107627513 missense probably benign 0.06
R6219:Glis1 UTSW 4 107631905 missense probably benign 0.27
R6856:Glis1 UTSW 4 107435879 missense probably damaging 0.96
R7278:Glis1 UTSW 4 107435683 start codon destroyed probably null 0.53
R7877:Glis1 UTSW 4 107634703 missense probably damaging 1.00
R7937:Glis1 UTSW 4 107627526 missense possibly damaging 0.68
R7940:Glis1 UTSW 4 107632374 missense probably damaging 1.00
R7940:Glis1 UTSW 4 107632375 missense probably damaging 0.99
R7954:Glis1 UTSW 4 107619657 missense possibly damaging 0.82
R8078:Glis1 UTSW 4 107567902 missense probably damaging 1.00
R8931:Glis1 UTSW 4 107563863 missense probably benign 0.35
R9227:Glis1 UTSW 4 107568130 missense probably benign 0.45
R9230:Glis1 UTSW 4 107568130 missense probably benign 0.45
R9767:Glis1 UTSW 4 107634597 missense probably benign 0.03
Posted On 2016-08-02