Incidental Mutation 'IGL02682:Zglp1'
ID303403
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zglp1
Ensembl Gene ENSMUSG00000079681
Gene Namezinc finger, GATA-like protein 1
SynonymsGlp1
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.374) question?
Stock #IGL02682
Quality Score
Status
Chromosome9
Chromosomal Location21062393-21067093 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 21066238 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 94 (S94P)
Ref Sequence ENSEMBL: ENSMUSP00000111157 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010348] [ENSMUST00000115494] [ENSMUST00000213826] [ENSMUST00000217359]
Predicted Effect probably benign
Transcript: ENSMUST00000010348
SMART Domains Protein: ENSMUSP00000010348
Gene: ENSMUSG00000079677

DomainStartEndE-ValueType
Pfam:Fer2 64 147 5.3e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000115494
AA Change: S94P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000111157
Gene: ENSMUSG00000079681
AA Change: S94P

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 noncoding transcript
Transcript: ENSMUST00000217150
Predicted Effect probably benign
Transcript: ENSMUST00000217282
Predicted Effect probably benign
Transcript: ENSMUST00000217359
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr1 A G 2: 58,477,811 S113P probably benign Het
Arhgdib A T 6: 136,924,168 W188R probably damaging Het
Bcr T A 10: 75,166,046 N927K possibly damaging Het
Cd209c A G 8: 3,940,324 Y165H probably damaging Het
Cnnm2 A G 19: 46,762,076 K102E probably benign Het
Col12a1 T C 9: 79,699,341 E600G probably damaging Het
Ddx4 A T 13: 112,622,186 H280Q probably benign Het
Eya4 T C 10: 23,116,600 Y462C probably damaging Het
Fibcd1 T A 2: 31,838,564 I94F probably damaging Het
Gm4846 C A 1: 166,494,626 G124V probably damaging Het
Gm5624 A G 14: 44,560,012 I108T possibly damaging Het
Gpr179 A T 11: 97,351,865 M51K probably benign Het
Hck A G 2: 153,134,134 I198V probably damaging Het
Kcnd2 T A 6: 21,216,925 C209* probably null Het
Klhl1 T A 14: 96,201,342 I507F possibly damaging Het
Knl1 A T 2: 119,077,969 K1693N possibly damaging Het
Mcam T C 9: 44,140,417 V490A possibly damaging Het
Mrgprx1 A T 7: 48,021,992 D2E probably damaging Het
Mtg1 T C 7: 140,144,729 probably benign Het
Myof C A 19: 37,921,481 R1512L probably benign Het
Nrp2 C T 1: 62,771,837 T679I probably benign Het
Nwd2 C A 5: 63,804,677 L535I probably benign Het
Nwd2 T A 5: 63,804,678 L535H probably damaging Het
Olfr1307 T A 2: 111,944,940 N172I probably damaging Het
Olfr1442 T C 19: 12,674,669 S155P probably damaging Het
Olfr592 A T 7: 103,187,014 I138F probably damaging Het
Phkb A G 8: 85,875,646 *41W probably null Het
Prl5a1 T A 13: 28,145,420 N27K probably benign Het
Rims1 T C 1: 22,288,484 T1292A probably damaging Het
Rnf38 G A 4: 44,133,745 A376V probably damaging Het
Slc34a2 T C 5: 53,059,238 V117A possibly damaging Het
Slfn8 A T 11: 83,003,691 F707L probably damaging Het
Snx16 G A 3: 10,438,175 P4L probably damaging Het
Snx6 T C 12: 54,754,345 D289G probably damaging Het
St8sia3 G T 18: 64,269,679 V130F probably damaging Het
U2surp A G 9: 95,481,651 probably null Het
Ubqln3 A G 7: 104,142,065 F273L probably benign Het
Vmn2r101 A T 17: 19,612,245 R834S possibly damaging Het
Vmn2r18 G T 5: 151,584,637 H341N probably damaging Het
Vrk3 A G 7: 44,753,820 I2V probably benign Het
Other mutations in Zglp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01718:Zglp1 APN 9 21063379 missense probably benign 0.31
IGL02039:Zglp1 APN 9 21067039 missense possibly damaging 0.95
IGL03040:Zglp1 APN 9 21063326 missense probably damaging 1.00
PIT4515001:Zglp1 UTSW 9 21066189 missense probably benign 0.01
R0366:Zglp1 UTSW 9 21063379 missense probably benign 0.31
R4174:Zglp1 UTSW 9 21066070 missense possibly damaging 0.94
R4888:Zglp1 UTSW 9 21062661 missense probably benign 0.00
R5121:Zglp1 UTSW 9 21062661 missense probably benign 0.00
R7103:Zglp1 UTSW 9 21066072 missense probably benign 0.30
R7481:Zglp1 UTSW 9 21062607 missense probably benign
R7581:Zglp1 UTSW 9 21062708 missense probably damaging 1.00
Z1088:Zglp1 UTSW 9 21067000 missense possibly damaging 0.88
Posted On2015-04-16