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)
|
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |