Incidental Mutation 'IGL02039:Zglp1'
ID 184647
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zglp1
Ensembl Gene ENSMUSG00000079681
Gene Name zinc finger, GATA-like protein 1
Synonyms Glp1
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.471) question?
Stock # IGL02039
Quality Score
Status
Chromosome 9
Chromosomal Location 20973689-20978389 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 20978335 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 14 (E14G)
Ref Sequence ENSEMBL: ENSMUSP00000111157 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010348] [ENSMUST00000115494] [ENSMUST00000213826] [ENSMUST00000217359]
AlphaFold Q1WG82
Predicted Effect probably benign
Transcript: ENSMUST00000010348
SMART Domains Protein: ENSMUSP00000010348
Gene: ENSMUSG00000079677

DomainStartEndE-ValueType
Pfam:Fer2 64 147 5.3e-12 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000115494
AA Change: E14G

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000111157
Gene: ENSMUSG00000079681
AA Change: E14G

DomainStartEndE-ValueType
Pfam:GATA 197 231 7.8e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213826
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215338
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215631
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216484
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216967
Predicted Effect probably benign
Transcript: ENSMUST00000217282
Predicted Effect probably benign
Transcript: ENSMUST00000217359
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217150
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mutations result in female and male infertility due to failure of germ cell development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,247,193 (GRCm39) Y2313* probably null Het
Arhgef12 A G 9: 42,883,563 (GRCm39) I1323T probably benign Het
C87436 A G 6: 86,430,677 (GRCm39) M366V probably benign Het
Cep290 T C 10: 100,350,464 (GRCm39) probably null Het
Cpsf3 T C 12: 21,351,457 (GRCm39) M326T probably damaging Het
Cpxm2 A G 7: 131,649,482 (GRCm39) V64A probably damaging Het
Csnka2ip G A 16: 64,298,957 (GRCm39) S25F probably damaging Het
Cyfip1 T C 7: 55,524,769 (GRCm39) F168L possibly damaging Het
Dhx8 T C 11: 101,654,853 (GRCm39) probably null Het
Dnah2 T A 11: 69,390,038 (GRCm39) I736F probably damaging Het
Erf T C 7: 24,943,969 (GRCm39) E454G possibly damaging Het
Flnc T C 6: 29,450,718 (GRCm39) V1482A probably benign Het
Fmn1 T C 2: 113,195,425 (GRCm39) L375P unknown Het
Foxm1 T C 6: 128,346,323 (GRCm39) Y85H probably damaging Het
Frem3 A G 8: 81,339,600 (GRCm39) E631G probably damaging Het
Fsip1 T C 2: 118,070,895 (GRCm39) D265G probably damaging Het
Gprc5c C T 11: 114,755,312 (GRCm39) Q330* probably null Het
Grin1 C T 2: 25,195,354 (GRCm39) V246M probably damaging Het
Ifitm3 C A 7: 140,590,563 (GRCm39) probably benign Het
Igdcc3 G A 9: 65,091,162 (GRCm39) V648I probably benign Het
Ighv5-2 A G 12: 113,542,214 (GRCm39) I87T probably benign Het
Imp4 G A 1: 34,482,849 (GRCm39) probably null Het
Ino80 T C 2: 119,210,554 (GRCm39) N1327D probably damaging Het
Kif5a T C 10: 127,069,736 (GRCm39) I830V possibly damaging Het
Muc5b A G 7: 141,424,901 (GRCm39) Y4696C possibly damaging Het
Nrl T C 14: 55,759,567 (GRCm39) E120G probably benign Het
Nsmaf T A 4: 6,424,995 (GRCm39) probably benign Het
Nup35 T C 2: 80,473,119 (GRCm39) M64T probably benign Het
Nxpe2 T A 9: 48,230,959 (GRCm39) N470I probably benign Het
Oga A T 19: 45,762,142 (GRCm39) V237E probably damaging Het
Or12d17 T A 17: 37,777,340 (GRCm39) I81N possibly damaging Het
Or9i1 C T 19: 13,840,083 (GRCm39) Q309* probably null Het
Os9 G A 10: 126,932,160 (GRCm39) P604S possibly damaging Het
Pitpnm1 A G 19: 4,155,032 (GRCm39) T287A probably benign Het
Pkd2l2 G T 18: 34,568,421 (GRCm39) probably null Het
Pola2 A T 19: 5,998,497 (GRCm39) I355N probably damaging Het
Pp2d1 T A 17: 53,823,022 (GRCm39) R15* probably null Het
Prpf40a T C 2: 53,034,815 (GRCm39) D749G probably damaging Het
Rhoh T C 5: 66,049,981 (GRCm39) S84P probably damaging Het
Slc12a7 T C 13: 73,957,213 (GRCm39) probably null Het
Slc37a2 A G 9: 37,144,980 (GRCm39) I454T probably damaging Het
Smarca2 A G 19: 26,693,537 (GRCm39) D28G probably damaging Het
Socs4 T C 14: 47,527,650 (GRCm39) I195T probably benign Het
Svep1 A G 4: 58,123,980 (GRCm39) probably null Het
Thbd T C 2: 148,248,462 (GRCm39) T469A probably benign Het
Thoc5 T C 11: 4,872,027 (GRCm39) probably null Het
Vmn1r173 G T 7: 23,402,321 (GRCm39) M185I probably benign Het
Vmn1r59 T C 7: 5,457,380 (GRCm39) S127G probably benign Het
Vmn2r6 T C 3: 64,463,610 (GRCm39) E408G probably damaging Het
Yars1 A T 4: 129,109,052 (GRCm39) I428F probably damaging Het
Other mutations in Zglp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01718:Zglp1 APN 9 20,974,675 (GRCm39) missense probably benign 0.31
IGL02682:Zglp1 APN 9 20,977,534 (GRCm39) missense probably benign 0.00
IGL03040:Zglp1 APN 9 20,974,622 (GRCm39) missense probably damaging 1.00
PIT4515001:Zglp1 UTSW 9 20,977,485 (GRCm39) missense probably benign 0.01
R0366:Zglp1 UTSW 9 20,974,675 (GRCm39) missense probably benign 0.31
R4174:Zglp1 UTSW 9 20,977,366 (GRCm39) missense possibly damaging 0.94
R4888:Zglp1 UTSW 9 20,973,957 (GRCm39) missense probably benign 0.00
R5121:Zglp1 UTSW 9 20,973,957 (GRCm39) missense probably benign 0.00
R7103:Zglp1 UTSW 9 20,977,368 (GRCm39) missense probably benign 0.30
R7481:Zglp1 UTSW 9 20,973,903 (GRCm39) missense probably benign
R7581:Zglp1 UTSW 9 20,974,004 (GRCm39) missense probably damaging 1.00
R9109:Zglp1 UTSW 9 20,977,482 (GRCm39) missense probably benign 0.08
R9298:Zglp1 UTSW 9 20,977,482 (GRCm39) missense probably benign 0.08
Z1088:Zglp1 UTSW 9 20,978,296 (GRCm39) missense possibly damaging 0.88
Posted On 2014-05-07