Incidental Mutation 'IGL01287:Pmm1'
ID 72748
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pmm1
Ensembl Gene ENSMUSG00000022474
Gene Name phosphomannomutase 1
Synonyms Secp53 (yeast) homolog
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01287
Quality Score
Status
Chromosome 15
Chromosomal Location 81835309-81845131 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 81839945 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 127 (T127A)
Ref Sequence ENSEMBL: ENSMUSP00000155419 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023112] [ENSMUST00000038757] [ENSMUST00000071462] [ENSMUST00000155781] [ENSMUST00000230229]
AlphaFold O35621
Predicted Effect probably damaging
Transcript: ENSMUST00000023112
AA Change: T127A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000023112
Gene: ENSMUSG00000022474
AA Change: T127A

DomainStartEndE-ValueType
Pfam:Hydrolase_3 16 209 7.1e-9 PFAM
Pfam:PMM 35 256 9.1e-115 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000038757
SMART Domains Protein: ENSMUSP00000044441
Gene: ENSMUSG00000042109

DomainStartEndE-ValueType
low complexity region 52 66 N/A INTRINSIC
CSP 71 136 6.71e-21 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000071462
AA Change: T67A

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000071405
Gene: ENSMUSG00000022474
AA Change: T67A

DomainStartEndE-ValueType
Pfam:PMM 16 196 1.4e-87 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125593
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129406
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147442
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152678
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147645
Predicted Effect probably benign
Transcript: ENSMUST00000155781
SMART Domains Protein: ENSMUSP00000115551
Gene: ENSMUSG00000022474

DomainStartEndE-ValueType
PDB:2FUE|A 1 49 7e-21 PDB
Predicted Effect probably damaging
Transcript: ENSMUST00000230229
AA Change: T127A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Predicted Effect unknown
Transcript: ENSMUST00000229120
AA Change: T137A
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229957
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229385
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Phosphomannomutase catalyzes the conversion between D-mannose 6-phosphate and D-mannose 1-phosphate which is a substrate for GDP-mannose synthesis. GDP-mannose is used for synthesis of dolichol-phosphate-mannose, which is essential for N-linked glycosylation and thus the secretion of several glycoproteins as well as for the synthesis of glycosyl-phosphatidyl-inositol (GPI) anchored proteins. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile and behaviorally normal with no detectable motor dysfunction or histological abnormalities in major organ systems and no evidence of abnormal glycosylation patterns. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik T C 9: 57,165,040 (GRCm39) K445E probably damaging Het
Abca15 A T 7: 119,932,081 (GRCm39) probably benign Het
Acsbg3 C T 17: 57,189,203 (GRCm39) Q204* probably null Het
Acvr1c A T 2: 58,170,254 (GRCm39) C371* probably null Het
Brs3 T C X: 56,092,727 (GRCm39) probably benign Het
Car14 C T 3: 95,806,871 (GRCm39) V198M possibly damaging Het
Cenpc1 G A 5: 86,170,313 (GRCm39) R704* probably null Het
Crybg1 C T 10: 43,868,490 (GRCm39) R1396H possibly damaging Het
Cubn A G 2: 13,315,377 (GRCm39) S3019P probably damaging Het
Cyp2j9 T C 4: 96,471,665 (GRCm39) E222G probably benign Het
Defb50 C A 8: 22,321,187 (GRCm39) T59K probably benign Het
Dlg3 T C X: 99,850,848 (GRCm39) I587T possibly damaging Het
Doc2a C T 7: 126,450,173 (GRCm39) R204C probably damaging Het
Galc T C 12: 98,212,503 (GRCm39) probably benign Het
Gm8257 A T 14: 44,892,800 (GRCm39) F67I probably damaging Het
Hnrnpul1 A T 7: 25,426,323 (GRCm39) N509K probably damaging Het
Iars2 T A 1: 185,028,625 (GRCm39) I678F possibly damaging Het
Ifit1 A G 19: 34,625,533 (GRCm39) E223G possibly damaging Het
Krt81 G A 15: 101,361,269 (GRCm39) H104Y probably benign Het
Lrp4 C A 2: 91,304,293 (GRCm39) D157E probably damaging Het
Ltk T A 2: 119,586,186 (GRCm39) T21S probably benign Het
Lvrn A T 18: 46,997,733 (GRCm39) probably benign Het
Maob G A X: 16,578,881 (GRCm39) A424V probably damaging Het
Myo1g C A 11: 6,465,856 (GRCm39) V410F possibly damaging Het
Myorg T A 4: 41,498,923 (GRCm39) I236F possibly damaging Het
Naxe T C 3: 87,963,981 (GRCm39) H250R probably damaging Het
Nek5 T C 8: 22,601,199 (GRCm39) N174S possibly damaging Het
Or2y3 G T 17: 38,392,998 (GRCm39) N290K probably damaging Het
Or51l14 C T 7: 103,101,002 (GRCm39) R153W probably damaging Het
Or9m2 A G 2: 87,821,288 (GRCm39) T278A probably benign Het
Pex1 A G 5: 3,656,027 (GRCm39) T285A probably benign Het
Pfas A G 11: 68,892,086 (GRCm39) S141P probably benign Het
Proc C A 18: 32,256,873 (GRCm39) probably benign Het
Ranbp9 T C 13: 43,633,980 (GRCm39) E142G probably damaging Het
Recql4 C A 15: 76,594,112 (GRCm39) probably benign Het
Robo4 C T 9: 37,324,336 (GRCm39) P955S possibly damaging Het
Ryr3 T A 2: 112,539,418 (GRCm39) N3274I probably damaging Het
Serpinb10 T C 1: 107,468,612 (GRCm39) probably benign Het
Slc9c1 A T 16: 45,404,811 (GRCm39) K848* probably null Het
Slfn5 A G 11: 82,847,807 (GRCm39) T231A probably damaging Het
Syncrip T C 9: 88,338,660 (GRCm39) probably benign Het
Syt16 A T 12: 74,313,513 (GRCm39) T480S probably damaging Het
Taf1c G A 8: 120,327,931 (GRCm39) T293M probably benign Het
Tbc1d5 T C 17: 51,120,826 (GRCm39) D430G possibly damaging Het
Tbx18 T C 9: 87,606,384 (GRCm39) T254A probably damaging Het
Tpm1 C T 9: 66,943,337 (GRCm39) R105H probably damaging Het
Usp17la T C 7: 104,510,522 (GRCm39) S376P probably benign Het
Vmn1r19 A G 6: 57,382,179 (GRCm39) D244G probably damaging Het
Vmn1r58 A T 7: 5,414,054 (GRCm39) F59I probably benign Het
Vmn2r45 A T 7: 8,488,622 (GRCm39) M136K probably benign Het
Vmn2r70 T A 7: 85,218,227 (GRCm39) R24* probably null Het
Vmn2r75 T A 7: 85,797,801 (GRCm39) I671F probably damaging Het
Other mutations in Pmm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01348:Pmm1 APN 15 81,836,219 (GRCm39) missense probably damaging 0.98
IGL01743:Pmm1 APN 15 81,844,987 (GRCm39) missense probably benign 0.02
R1564:Pmm1 UTSW 15 81,840,401 (GRCm39) missense probably damaging 1.00
R2202:Pmm1 UTSW 15 81,840,601 (GRCm39) missense probably benign 0.05
R5008:Pmm1 UTSW 15 81,842,095 (GRCm39) critical splice donor site probably null
R5775:Pmm1 UTSW 15 81,836,156 (GRCm39) missense probably benign 0.16
R6409:Pmm1 UTSW 15 81,845,008 (GRCm39) missense probably benign 0.01
R7184:Pmm1 UTSW 15 81,840,415 (GRCm39) missense probably damaging 1.00
R7545:Pmm1 UTSW 15 81,835,803 (GRCm39) missense probably damaging 0.97
R8248:Pmm1 UTSW 15 81,844,932 (GRCm39) missense possibly damaging 0.95
R9022:Pmm1 UTSW 15 81,839,896 (GRCm39) missense probably damaging 1.00
R9023:Pmm1 UTSW 15 81,839,896 (GRCm39) missense probably damaging 1.00
R9024:Pmm1 UTSW 15 81,839,896 (GRCm39) missense probably damaging 1.00
R9072:Pmm1 UTSW 15 81,839,896 (GRCm39) missense probably damaging 1.00
R9072:Pmm1 UTSW 15 81,839,896 (GRCm39) missense probably damaging 1.00
R9073:Pmm1 UTSW 15 81,839,896 (GRCm39) missense probably damaging 1.00
R9074:Pmm1 UTSW 15 81,839,896 (GRCm39) missense probably damaging 1.00
R9076:Pmm1 UTSW 15 81,839,896 (GRCm39) missense probably damaging 1.00
R9077:Pmm1 UTSW 15 81,839,896 (GRCm39) missense probably damaging 1.00
R9116:Pmm1 UTSW 15 81,839,896 (GRCm39) missense probably damaging 1.00
R9768:Pmm1 UTSW 15 81,840,460 (GRCm39) missense possibly damaging 0.83
RF013:Pmm1 UTSW 15 81,842,014 (GRCm39) missense probably damaging 0.99
Posted On 2013-10-07