Incidental Mutation 'R9484:Glis3'
ID 716489
Institutional Source Beutler Lab
Gene Symbol Glis3
Ensembl Gene ENSMUSG00000052942
Gene Name GLIS family zinc finger 3
Synonyms E330013K21Rik, 4833409N03Rik
MMRRC Submission
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.324) question?
Stock # R9484 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 28236251-28657477 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 28508403 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 527 (D527G)
Ref Sequence ENSEMBL: ENSMUSP00000124635 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065113] [ENSMUST00000112612] [ENSMUST00000159178] [ENSMUST00000160376] [ENSMUST00000161328] [ENSMUST00000162022]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000065113
SMART Domains Protein: ENSMUSP00000066953
Gene: ENSMUSG00000052942

DomainStartEndE-ValueType
low complexity region 35 53 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000112612
AA Change: D527G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000108231
Gene: ENSMUSG00000052942
AA Change: D527G

DomainStartEndE-ValueType
low complexity region 35 53 N/A INTRINSIC
low complexity region 203 222 N/A INTRINSIC
low complexity region 438 476 N/A INTRINSIC
ZnF_C2H2 500 525 1.07e0 SMART
ZnF_C2H2 534 561 6.13e-1 SMART
ZnF_C2H2 567 591 3.89e-3 SMART
ZnF_C2H2 597 621 1.45e-2 SMART
ZnF_C2H2 627 651 9.08e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000159178
SMART Domains Protein: ENSMUSP00000124823
Gene: ENSMUSG00000052942

DomainStartEndE-ValueType
low complexity region 35 53 N/A INTRINSIC
low complexity region 203 222 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000160376
SMART Domains Protein: ENSMUSP00000124143
Gene: ENSMUSG00000052942

DomainStartEndE-ValueType
low complexity region 35 53 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000161328
SMART Domains Protein: ENSMUSP00000125721
Gene: ENSMUSG00000052942

DomainStartEndE-ValueType
low complexity region 35 53 N/A INTRINSIC
low complexity region 203 222 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000162022
AA Change: D527G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000124635
Gene: ENSMUSG00000052942
AA Change: D527G

DomainStartEndE-ValueType
low complexity region 35 53 N/A INTRINSIC
low complexity region 203 222 N/A INTRINSIC
low complexity region 438 476 N/A INTRINSIC
ZnF_C2H2 500 525 1.07e0 SMART
ZnF_C2H2 534 561 6.13e-1 SMART
ZnF_C2H2 567 591 3.89e-3 SMART
ZnF_C2H2 597 621 1.45e-2 SMART
ZnF_C2H2 627 651 9.08e-4 SMART
low complexity region 700 709 N/A INTRINSIC
low complexity region 722 746 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.2%
  • 20x: 97.1%
Validation Efficiency
MGI Phenotype FUNCTION: This gene is a member of the GLI-similar zinc finger protein family and encodes a nuclear protein which contains multiple C2H2-type zinc finger domains. This protein functions as both a repressor and activator of transcription and is specifically involved in the transcriptional regulation of insulin. It is thought to enhance GLI-RE-dependent transcription by binding to the GLI-RE consensus sequence (GACCACCCAC). Mutations in a similar gene in human have been associated with neonatal diabetes and congenital hypothyroidism (NDH). Alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2015]
PHENOTYPE: Mice homozygous for knock-out alleles exhibit postnatal lethality associated with neonatal diabetes and polycystic kidney disease. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acads A T 5: 115,250,845 (GRCm39) C151S probably damaging Het
Actr8 T C 14: 29,708,301 (GRCm39) I193T probably benign Het
Btbd2 T C 10: 80,480,103 (GRCm39) N419S probably benign Het
Cacna2d1 T A 5: 16,561,831 (GRCm39) W821R probably damaging Het
Cadps2 T C 6: 23,626,646 (GRCm39) Y214C probably benign Het
Calu T A 6: 29,366,162 (GRCm39) L180Q probably damaging Het
Corin C T 5: 72,497,280 (GRCm39) V615I probably damaging Het
Cyp8b1 A T 9: 121,744,983 (GRCm39) D116E probably benign Het
D630036H23Rik C A 12: 36,431,711 (GRCm39) A96S unknown Het
Ddx24 A T 12: 103,377,555 (GRCm39) Y717N probably damaging Het
Dmap1 G T 4: 117,533,308 (GRCm39) Q249K probably benign Het
Dnah10 T A 5: 124,900,508 (GRCm39) W3922R probably damaging Het
Dnah14 T C 1: 181,517,773 (GRCm39) F2036L probably benign Het
Dnah14 T C 1: 181,625,311 (GRCm39) I4064T probably benign Het
Dock9 A C 14: 121,818,844 (GRCm39) V1546G probably damaging Het
Eif1ad4 A T 12: 87,862,249 (GRCm39) Q37L possibly damaging Het
Eif3a A T 19: 60,755,006 (GRCm39) S1059T unknown Het
Ep300 A G 15: 81,521,026 (GRCm39) E1262G unknown Het
Evl T A 12: 108,652,716 (GRCm39) I387N probably damaging Het
Fat2 A C 11: 55,200,752 (GRCm39) V774G probably damaging Het
Fez1 T A 9: 36,755,093 (GRCm39) Y31N probably benign Het
Fkbp10 A G 11: 100,313,960 (GRCm39) I435V probably damaging Het
Flnb A G 14: 7,929,004 (GRCm38) D1911G probably benign Het
Fnbp1 T C 2: 30,973,038 (GRCm39) Y154C probably benign Het
Fndc10 T C 4: 155,779,496 (GRCm39) I180T possibly damaging Het
Frmd4a G A 2: 4,609,026 (GRCm39) V965I possibly damaging Het
Gabrr2 A G 4: 33,071,352 (GRCm39) H64R possibly damaging Het
H2-Ob T A 17: 34,459,989 (GRCm39) F33L probably damaging Het
Hbb-bh1 C T 7: 103,492,239 (GRCm39) E27K probably benign Het
Ifnb1 T A 4: 88,440,915 (GRCm39) T33S probably benign Het
Igkv4-80 T A 6: 68,993,766 (GRCm39) T42S probably damaging Het
Irs2 C T 8: 11,057,334 (GRCm39) G366D probably damaging Het
Kcnk2 CAAA CAA 1: 188,988,891 (GRCm39) probably null Het
Krtap5-3 T A 7: 141,756,068 (GRCm39) C302S unknown Het
Lgi1 A G 19: 38,294,757 (GRCm39) K510E probably benign Het
Lgi2 T A 5: 52,695,936 (GRCm39) D341V probably benign Het
Lin7c T C 2: 109,724,813 (GRCm39) I14T probably benign Het
Lrrc19 A T 4: 94,531,573 (GRCm39) M13K probably benign Het
Lrrc69 T C 4: 14,666,012 (GRCm39) I315M probably benign Het
Mtcl3 G A 10: 29,072,969 (GRCm39) D754N probably damaging Het
Myo5c A T 9: 75,204,770 (GRCm39) D1541V probably damaging Het
Mypn T G 10: 63,003,019 (GRCm39) M373L probably benign Het
Nckipsd C A 9: 108,689,837 (GRCm39) H333N probably damaging Het
Nrg2 A T 18: 36,157,401 (GRCm39) L428Q probably null Het
Or13a20 T C 7: 140,231,904 (GRCm39) L4S probably benign Het
Or2b28 C A 13: 21,531,587 (GRCm39) T163K probably damaging Het
Or5an11 T C 19: 12,245,735 (GRCm39) I47T possibly damaging Het
Otogl T A 10: 107,657,894 (GRCm39) probably null Het
Otogl C T 10: 107,737,156 (GRCm39) G86D probably damaging Het
Papln A T 12: 83,838,618 (GRCm39) Q1249L probably benign Het
Plxna2 G T 1: 194,327,202 (GRCm39) G379C probably damaging Het
Pofut2 T C 10: 77,095,260 (GRCm39) I35T probably benign Het
Pros1 A G 16: 62,744,887 (GRCm39) T501A possibly damaging Het
Rapgef1 T C 2: 29,625,821 (GRCm39) S1042P possibly damaging Het
Rps6kb1 C T 11: 86,408,443 (GRCm39) E185K probably damaging Het
Slc13a2 A T 11: 78,294,233 (GRCm39) L216Q probably damaging Het
Slc22a14 T C 9: 119,009,615 (GRCm39) Y160C probably damaging Het
Slc22a4 T A 11: 53,879,773 (GRCm39) I429F possibly damaging Het
Slc26a3 A G 12: 31,511,785 (GRCm39) K457E probably damaging Het
Slc47a2 T C 11: 61,227,060 (GRCm39) I169M possibly damaging Het
Slco1a1 C T 6: 141,854,672 (GRCm39) V660I probably benign Het
Smyd1 A G 6: 71,202,450 (GRCm39) Y252H probably damaging Het
Spp2 A T 1: 88,334,695 (GRCm39) probably benign Het
Stra8 T A 6: 34,911,121 (GRCm39) W250R probably damaging Het
Syne1 A C 10: 5,170,359 (GRCm39) L5183R probably damaging Het
Tdrd9 T C 12: 112,012,684 (GRCm39) S1203P probably damaging Het
Th C A 7: 142,453,620 (GRCm39) E27* probably null Het
Thada C A 17: 84,736,619 (GRCm39) L887F probably damaging Het
Timm23 T C 14: 31,902,586 (GRCm39) T186A probably benign Het
Tmem132b A T 5: 125,860,420 (GRCm39) E555V probably damaging Het
Tnik A T 3: 28,649,093 (GRCm39) Q457L unknown Het
Uba7 C A 9: 107,861,037 (GRCm39) H942Q probably benign Het
Upf2 T C 2: 5,966,078 (GRCm39) S233P unknown Het
Urm1 T A 2: 29,732,760 (GRCm39) N72K probably damaging Het
Usp10 T C 8: 120,675,504 (GRCm39) S508P possibly damaging Het
Usp37 G A 1: 74,499,081 (GRCm39) P632S probably damaging Het
Wdr77 T A 3: 105,872,404 (GRCm39) N209K probably benign Het
Zbtb24 C T 10: 41,327,429 (GRCm39) T105M probably benign Het
Zfp341 T A 2: 154,485,763 (GRCm39) I671N probably damaging Het
Zfp414 A G 17: 33,848,984 (GRCm39) T73A probably benign Het
Zfp574 A T 7: 24,781,404 (GRCm39) I809F possibly damaging Het
Zfp62 T C 11: 49,108,108 (GRCm39) I733T probably damaging Het
Zfp719 A G 7: 43,239,581 (GRCm39) I390V possibly damaging Het
Other mutations in Glis3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00334:Glis3 APN 19 28,517,664 (GRCm39) missense probably damaging 1.00
IGL02240:Glis3 APN 19 28,508,925 (GRCm39) missense probably damaging 1.00
IGL02347:Glis3 APN 19 28,509,283 (GRCm39) missense probably benign
IGL02904:Glis3 APN 19 28,335,352 (GRCm39) missense possibly damaging 0.58
glee UTSW 19 28,240,077 (GRCm39) utr 3 prime probably benign
R0071:Glis3 UTSW 19 28,241,255 (GRCm39) splice site probably benign
R0071:Glis3 UTSW 19 28,241,255 (GRCm39) splice site probably benign
R0106:Glis3 UTSW 19 28,509,268 (GRCm39) missense possibly damaging 0.67
R0106:Glis3 UTSW 19 28,509,268 (GRCm39) missense possibly damaging 0.67
R0399:Glis3 UTSW 19 28,276,168 (GRCm39) splice site probably benign
R1462:Glis3 UTSW 19 28,239,918 (GRCm39) utr 3 prime probably benign
R1901:Glis3 UTSW 19 28,508,985 (GRCm39) missense probably damaging 1.00
R1976:Glis3 UTSW 19 28,240,077 (GRCm39) utr 3 prime probably benign
R1982:Glis3 UTSW 19 28,508,674 (GRCm39) missense probably damaging 1.00
R2155:Glis3 UTSW 19 28,508,702 (GRCm39) missense probably benign 0.16
R3723:Glis3 UTSW 19 28,239,991 (GRCm39) nonsense probably null
R4496:Glis3 UTSW 19 28,643,527 (GRCm39) missense possibly damaging 0.90
R4921:Glis3 UTSW 19 28,643,504 (GRCm39) missense probably damaging 1.00
R5088:Glis3 UTSW 19 28,508,979 (GRCm39) missense probably benign 0.00
R5241:Glis3 UTSW 19 28,327,423 (GRCm39) missense probably benign 0.02
R5557:Glis3 UTSW 19 28,241,409 (GRCm39) missense probably benign 0.00
R6226:Glis3 UTSW 19 28,294,702 (GRCm39) missense probably damaging 1.00
R6309:Glis3 UTSW 19 28,294,761 (GRCm39) missense probably benign 0.24
R6488:Glis3 UTSW 19 28,276,253 (GRCm39) missense probably benign 0.13
R7069:Glis3 UTSW 19 28,508,919 (GRCm39) missense probably damaging 1.00
R7260:Glis3 UTSW 19 28,508,802 (GRCm39) missense probably benign
R7313:Glis3 UTSW 19 28,508,419 (GRCm39) missense probably damaging 1.00
R7320:Glis3 UTSW 19 28,508,998 (GRCm39) missense probably damaging 1.00
R7767:Glis3 UTSW 19 28,241,360 (GRCm39) missense probably benign 0.18
R7839:Glis3 UTSW 19 28,294,773 (GRCm39) missense possibly damaging 0.81
R8133:Glis3 UTSW 19 28,327,406 (GRCm39) missense probably benign 0.00
R8937:Glis3 UTSW 19 28,643,266 (GRCm39) missense possibly damaging 0.47
R9184:Glis3 UTSW 19 28,509,007 (GRCm39) missense probably damaging 1.00
T0970:Glis3 UTSW 19 28,508,332 (GRCm39) missense probably damaging 1.00
Z1176:Glis3 UTSW 19 28,261,168 (GRCm39) missense possibly damaging 0.90
Predicted Primers PCR Primer
(F):5'- ATGACAGTAAGCTGGACCTTCC -3'
(R):5'- AACATGGTGTTGCAGCCTG -3'

Sequencing Primer
(F):5'- TGGACCTTCCAGAGAGGTG -3'
(R):5'- TGTTGCAGCCTGGCCTAC -3'
Posted On 2022-07-18