Incidental Mutation 'IGL01369:Glyr1'
ID76047
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Glyr1
Ensembl Gene ENSMUSG00000022536
Gene Nameglyoxylate reductase 1 homolog (Arabidopsis)
Synonyms3930401K13Rik, Npac, 2810419J22Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.342) question?
Stock #IGL01369
Quality Score
Status
Chromosome16
Chromosomal Location5013909-5049863 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 5020288 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 365 (D365E)
Ref Sequence ENSEMBL: ENSMUSP00000111510 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023189] [ENSMUST00000115844]
Predicted Effect probably benign
Transcript: ENSMUST00000023189
AA Change: D359E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000023189
Gene: ENSMUSG00000022536
AA Change: D359E

DomainStartEndE-ValueType
Pfam:PWWP 6 89 1.4e-24 PFAM
low complexity region 109 122 N/A INTRINSIC
AT_hook 167 179 3.21e-1 SMART
Pfam:NAD_binding_2 266 422 1.2e-36 PFAM
Pfam:F420_oxidored 268 355 2e-6 PFAM
Pfam:NAD_binding_11 423 544 2.7e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000115844
AA Change: D365E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000111510
Gene: ENSMUSG00000022536
AA Change: D365E

DomainStartEndE-ValueType
Pfam:PWWP 6 89 1.8e-24 PFAM
low complexity region 109 122 N/A INTRINSIC
AT_hook 167 179 3.21e-1 SMART
Pfam:NAD_binding_2 266 428 2.6e-41 PFAM
Pfam:F420_oxidored 268 361 3.2e-9 PFAM
Pfam:NAD_binding_11 429 550 3.4e-25 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi2 A G 1: 60,437,056 T96A probably damaging Het
Adam34 T A 8: 43,651,057 K517M probably benign Het
Atm A T 9: 53,515,317 I547N probably benign Het
Cadm4 A T 7: 24,499,522 D74V possibly damaging Het
Caprin1 G A 2: 103,768,865 P46S probably damaging Het
Cbl A T 9: 44,201,061 Y112* probably null Het
Ccdc180 T C 4: 45,900,256 V246A probably benign Het
Chd1 A T 17: 15,754,997 E1103V probably damaging Het
Clock G A 5: 76,237,086 P428L probably benign Het
Cntn2 T A 1: 132,516,105 I979F probably benign Het
Col2a1 A G 15: 97,977,826 S1193P unknown Het
Fam205a1 T C 4: 42,852,548 probably null Het
Fga A T 3: 83,030,200 Y128F probably benign Het
Gm436 T C 4: 144,674,645 T90A possibly damaging Het
Gmppb G A 9: 108,051,247 probably null Het
Gmps A T 3: 64,001,592 H505L probably benign Het
Hexim2 A G 11: 103,138,638 N172S probably benign Het
Hmgcr T C 13: 96,666,522 E65G probably null Het
Hsd17b4 T C 18: 50,172,033 S446P possibly damaging Het
Kirrel3 C T 9: 35,016,441 T382I probably benign Het
Klra7 A T 6: 130,226,535 Y169* probably null Het
Lmbrd1 T C 1: 24,705,974 probably benign Het
Loxhd1 A G 18: 77,329,201 E211G possibly damaging Het
Maf1 T A 15: 76,352,692 F44I probably damaging Het
Mmd2 A G 5: 142,575,229 S84P probably damaging Het
Morc2b T C 17: 33,138,165 E211G probably benign Het
Mov10l1 T C 15: 89,024,837 probably benign Het
Mycbp2 C A 14: 103,155,510 C3205F possibly damaging Het
Myg1 G A 15: 102,334,338 V155M probably benign Het
Ncam2 A G 16: 81,461,571 N247S probably benign Het
Nek11 A G 9: 105,300,060 probably null Het
Nt5dc3 T A 10: 86,820,275 probably benign Het
Nudcd3 A G 11: 6,150,551 Y134H probably damaging Het
Ogfod1 T C 8: 94,063,091 probably null Het
Olfr1451 A T 19: 12,999,761 L258F possibly damaging Het
Orm2 T C 4: 63,362,978 V51A probably benign Het
P2ry14 T C 3: 59,115,335 I244V probably damaging Het
Poll A G 19: 45,553,676 V397A probably damaging Het
Ppdpf C A 2: 181,187,894 probably benign Het
Ptch1 T C 13: 63,511,681 E1249G probably benign Het
Rdh16f1 C A 10: 127,759,975 T13K probably benign Het
Rrp1 G A 10: 78,405,071 probably benign Het
Sec14l2 A G 11: 4,103,432 M346T probably benign Het
Sh2d2a A T 3: 87,851,829 Q246L probably benign Het
Slc44a1 G A 4: 53,491,448 D62N probably damaging Het
Snx22 A G 9: 66,068,778 Y58H probably damaging Het
Ttn T A 2: 76,769,435 D19104V probably damaging Het
Ugt2a3 T C 5: 87,327,120 S422G probably damaging Het
Zfyve19 G T 2: 119,210,613 probably benign Het
Other mutations in Glyr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02332:Glyr1 APN 16 5018953 missense probably damaging 1.00
IGL02407:Glyr1 APN 16 5036948 missense probably benign 0.01
IGL02429:Glyr1 APN 16 5019376 missense probably benign 0.28
IGL03255:Glyr1 APN 16 5048757 unclassified probably null
R0020:Glyr1 UTSW 16 5037049 missense probably damaging 1.00
R0309:Glyr1 UTSW 16 5031972 missense probably damaging 0.98
R0694:Glyr1 UTSW 16 5026560 missense probably damaging 0.99
R0971:Glyr1 UTSW 16 5021345 frame shift probably null
R1347:Glyr1 UTSW 16 5021339 missense probably damaging 1.00
R1347:Glyr1 UTSW 16 5021339 missense probably damaging 1.00
R1382:Glyr1 UTSW 16 5021345 frame shift probably null
R1383:Glyr1 UTSW 16 5021345 frame shift probably null
R2137:Glyr1 UTSW 16 5018482 missense probably benign 0.01
R2254:Glyr1 UTSW 16 5019013 missense probably benign 0.01
R3913:Glyr1 UTSW 16 5031913 missense probably damaging 1.00
R4112:Glyr1 UTSW 16 5018486 missense possibly damaging 0.83
R4629:Glyr1 UTSW 16 5037043 missense possibly damaging 0.70
R4795:Glyr1 UTSW 16 5047758 missense probably benign 0.40
R5112:Glyr1 UTSW 16 5018876 nonsense probably null
R5412:Glyr1 UTSW 16 5036433 missense possibly damaging 0.87
R5757:Glyr1 UTSW 16 5018992 missense probably benign 0.30
R6425:Glyr1 UTSW 16 5036486 splice site probably null
Posted On2013-10-07