Incidental Mutation 'IGL01987:Man1a2'
ID 181938
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Man1a2
Ensembl Gene ENSMUSG00000008763
Gene Name mannosidase, alpha, class 1A, member 2
Synonyms Man1b
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01987
Quality Score
Status
Chromosome 3
Chromosomal Location 100469519-100592789 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 100551873 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 280 (Y280C)
Ref Sequence ENSEMBL: ENSMUSP00000008907 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008907] [ENSMUST00000130066] [ENSMUST00000196250]
AlphaFold P39098
Predicted Effect probably damaging
Transcript: ENSMUST00000008907
AA Change: Y280C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000008907
Gene: ENSMUSG00000008763
AA Change: Y280C

DomainStartEndE-ValueType
transmembrane domain 37 56 N/A INTRINSIC
coiled coil region 101 153 N/A INTRINSIC
low complexity region 155 170 N/A INTRINSIC
Pfam:Glyco_hydro_47 187 626 2.8e-156 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000130066
SMART Domains Protein: ENSMUSP00000116489
Gene: ENSMUSG00000008763

DomainStartEndE-ValueType
coiled coil region 18 70 N/A INTRINSIC
low complexity region 72 87 N/A INTRINSIC
Pfam:Glyco_hydro_47 104 179 1.2e-23 PFAM
Pfam:Glyco_hydro_47 174 246 1.1e-18 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133642
Predicted Effect probably benign
Transcript: ENSMUST00000196250
SMART Domains Protein: ENSMUSP00000143695
Gene: ENSMUSG00000008763

DomainStartEndE-ValueType
transmembrane domain 38 57 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Alpha-mannosidases function at different stages of N-glycan maturation in mammalian cells. See MAN2A1 (MIM 154582) for general information.[supplied by OMIM, Mar 2008]
PHENOTYPE: Homozygous mutation of this gene results in respiratory distress and death within a few hours after birth. Lung development is delayed, the alveolar septum is thickened, and hemorrhage occurs in the alveolar region. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 A G 17: 24,565,202 (GRCm39) F77L probably benign Het
Abca8a A G 11: 109,964,981 (GRCm39) F439L possibly damaging Het
Abcb5 A T 12: 118,891,093 (GRCm39) V468D probably damaging Het
Adgrb3 A T 1: 25,140,512 (GRCm39) probably null Het
Ajm1 T C 2: 25,467,970 (GRCm39) E647G possibly damaging Het
Ankrd28 T C 14: 31,500,931 (GRCm39) D50G probably damaging Het
Cacna1b A T 2: 24,587,579 (GRCm39) probably null Het
Capn9 A G 8: 125,302,965 (GRCm39) S28G probably benign Het
Cdk5rap2 A G 4: 70,220,319 (GRCm39) probably null Het
Dmtf1l C T X: 125,722,098 (GRCm39) E336K possibly damaging Het
E2f5 T C 3: 14,652,363 (GRCm39) probably benign Het
Fam135b A G 15: 71,333,964 (GRCm39) Y1077H probably benign Het
Fap A G 2: 62,359,020 (GRCm39) Y428H probably damaging Het
Fasn A G 11: 120,708,899 (GRCm39) S595P probably damaging Het
Flnb T C 14: 7,922,748 (GRCm38) probably null Het
Fzd3 A T 14: 65,477,347 (GRCm39) V69E probably damaging Het
Gcdh A T 8: 85,620,110 (GRCm39) probably benign Het
Ido1 A G 8: 25,083,159 (GRCm39) Y89H probably benign Het
Itga2 G A 13: 114,984,482 (GRCm39) Q1010* probably null Het
Mgat4d T C 8: 84,094,731 (GRCm39) I256T probably damaging Het
Mmrn1 A G 6: 60,921,557 (GRCm39) K5E probably benign Het
Ncapd2 A G 6: 125,162,804 (GRCm39) probably benign Het
Or2at4 A T 7: 99,384,478 (GRCm39) I43F probably damaging Het
Or7g18 A T 9: 18,787,003 (GRCm39) I127L probably benign Het
Pcnx3 T C 19: 5,727,507 (GRCm39) D644G probably damaging Het
Pole T C 5: 110,485,098 (GRCm39) V2280A probably benign Het
Ptprf T A 4: 118,134,567 (GRCm39) M24L probably benign Het
Sbno1 T C 5: 124,542,282 (GRCm39) N337S probably damaging Het
Serpinc1 T A 1: 160,820,977 (GRCm39) F141L probably damaging Het
Shroom3 C A 5: 93,090,048 (GRCm39) R933S probably damaging Het
Slc24a2 G A 4: 87,146,033 (GRCm39) P7L probably benign Het
Slc25a32 G A 15: 38,961,002 (GRCm39) T227I probably damaging Het
Slc7a1 A G 5: 148,274,002 (GRCm39) F396L possibly damaging Het
Smok2a G A 17: 13,445,377 (GRCm39) R318H probably benign Het
Sntg2 A G 12: 30,362,569 (GRCm39) V59A probably damaging Het
Sspo A G 6: 48,454,558 (GRCm39) probably null Het
Tnfrsf1a G A 6: 125,333,827 (GRCm39) V27I probably damaging Het
Tnpo3 T C 6: 29,560,200 (GRCm39) T648A probably benign Het
Tpbg A G 9: 85,727,252 (GRCm39) Y407C probably damaging Het
Wbp2nl A T 15: 82,192,762 (GRCm39) M149L probably benign Het
Yif1a T A 19: 5,141,625 (GRCm39) M181K probably benign Het
Zkscan8 A G 13: 21,710,729 (GRCm39) L127S probably damaging Het
Other mutations in Man1a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02009:Man1a2 APN 3 100,591,978 (GRCm39) missense probably damaging 0.99
IGL02097:Man1a2 APN 3 100,489,447 (GRCm39) missense possibly damaging 0.68
IGL02395:Man1a2 APN 3 100,551,853 (GRCm39) splice site probably null
IGL02441:Man1a2 APN 3 100,499,189 (GRCm39) missense probably benign 0.01
R0043:Man1a2 UTSW 3 100,495,196 (GRCm39) missense probably damaging 1.00
R0064:Man1a2 UTSW 3 100,499,199 (GRCm39) missense possibly damaging 0.95
R0217:Man1a2 UTSW 3 100,524,353 (GRCm39) missense possibly damaging 0.61
R0266:Man1a2 UTSW 3 100,489,350 (GRCm39) missense probably damaging 1.00
R0284:Man1a2 UTSW 3 100,592,102 (GRCm39) missense probably damaging 0.98
R0633:Man1a2 UTSW 3 100,591,891 (GRCm39) missense possibly damaging 0.80
R1074:Man1a2 UTSW 3 100,563,402 (GRCm39) missense possibly damaging 0.68
R2167:Man1a2 UTSW 3 100,499,216 (GRCm39) missense probably damaging 1.00
R2177:Man1a2 UTSW 3 100,539,847 (GRCm39) missense probably damaging 1.00
R3822:Man1a2 UTSW 3 100,539,913 (GRCm39) missense possibly damaging 0.48
R4361:Man1a2 UTSW 3 100,563,358 (GRCm39) missense probably benign
R4652:Man1a2 UTSW 3 100,539,877 (GRCm39) missense probably damaging 1.00
R4871:Man1a2 UTSW 3 100,524,372 (GRCm39) missense probably damaging 1.00
R5153:Man1a2 UTSW 3 100,563,579 (GRCm39) missense probably damaging 1.00
R5182:Man1a2 UTSW 3 100,554,333 (GRCm39) missense probably damaging 0.99
R5201:Man1a2 UTSW 3 100,524,328 (GRCm39) missense probably benign
R5251:Man1a2 UTSW 3 100,527,415 (GRCm39) missense probably damaging 1.00
R6135:Man1a2 UTSW 3 100,592,248 (GRCm39) start gained probably benign
R6793:Man1a2 UTSW 3 100,539,913 (GRCm39) missense possibly damaging 0.48
R6886:Man1a2 UTSW 3 100,563,387 (GRCm39) missense probably benign 0.00
R7209:Man1a2 UTSW 3 100,554,395 (GRCm39) missense unknown
R7224:Man1a2 UTSW 3 100,489,369 (GRCm39) missense possibly damaging 0.85
R7308:Man1a2 UTSW 3 100,527,421 (GRCm39) missense probably damaging 1.00
R7815:Man1a2 UTSW 3 100,563,495 (GRCm39) missense probably damaging 0.99
R7826:Man1a2 UTSW 3 100,489,455 (GRCm39) missense probably damaging 1.00
R8427:Man1a2 UTSW 3 100,592,001 (GRCm39) missense probably benign 0.18
R9621:Man1a2 UTSW 3 100,591,961 (GRCm39) missense probably benign 0.03
Posted On 2014-05-07