Incidental Mutation 'R6409:Pmm1'
ID |
514787 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pmm1
|
Ensembl Gene |
ENSMUSG00000022474 |
Gene Name |
phosphomannomutase 1 |
Synonyms |
Secp53 (yeast) homolog |
MMRRC Submission |
044554-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6409 (G1)
|
Quality Score |
118.008 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
81835309-81845131 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 81845008 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 9
(T9A)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023112]
[ENSMUST00000071462]
[ENSMUST00000155781]
[ENSMUST00000230229]
|
AlphaFold |
O35621 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000023112
|
SMART Domains |
Protein: ENSMUSP00000023112 Gene: ENSMUSG00000022474
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: ENSMUST00000071462
|
SMART Domains |
Protein: ENSMUSP00000071405 Gene: ENSMUSG00000022474
Domain | Start | End | E-Value | Type |
Pfam:PMM
|
16 |
196 |
1.4e-87 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147442
|
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 benign
Transcript: ENSMUST00000229120
AA Change: T9A
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229385
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229957
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000230229
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
Validation Efficiency |
97% (32/33) |
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aatk |
G |
T |
11: 119,902,558 (GRCm39) |
Q556K |
probably benign |
Het |
Adgrf3 |
A |
G |
5: 30,402,312 (GRCm39) |
V572A |
probably damaging |
Het |
Ahnak |
G |
A |
19: 8,986,938 (GRCm39) |
V2741M |
probably benign |
Het |
Ascc3 |
T |
C |
10: 50,721,676 (GRCm39) |
V2043A |
probably benign |
Het |
B3glct |
C |
T |
5: 149,658,916 (GRCm39) |
R239C |
probably benign |
Het |
Cacna2d4 |
T |
A |
6: 119,259,189 (GRCm39) |
V626E |
probably damaging |
Het |
Cdcp3 |
G |
A |
7: 130,863,800 (GRCm39) |
|
probably benign |
Het |
Cfap54 |
T |
C |
10: 92,803,354 (GRCm39) |
N1563D |
probably benign |
Het |
Duox2 |
G |
C |
2: 122,115,148 (GRCm39) |
H1110D |
probably damaging |
Het |
Inppl1 |
A |
T |
7: 101,478,168 (GRCm39) |
F648I |
probably damaging |
Het |
Mefv |
C |
A |
16: 3,528,657 (GRCm39) |
|
probably null |
Het |
Ms4a4b |
T |
C |
19: 11,438,724 (GRCm39) |
|
probably null |
Het |
Mtus2 |
T |
C |
5: 148,014,425 (GRCm39) |
V406A |
probably benign |
Het |
Nup88 |
T |
C |
11: 70,835,798 (GRCm39) |
R554G |
probably null |
Het |
Or1x2 |
A |
G |
11: 50,918,015 (GRCm39) |
Y62C |
probably damaging |
Het |
Or4d10 |
C |
T |
19: 12,052,111 (GRCm39) |
|
probably benign |
Het |
Or8h8 |
A |
T |
2: 86,753,515 (GRCm39) |
Y120* |
probably null |
Het |
Pde10a |
A |
G |
17: 9,168,270 (GRCm39) |
D246G |
probably damaging |
Het |
Pramel19 |
C |
T |
4: 101,797,874 (GRCm39) |
Q91* |
probably null |
Het |
Psg18 |
T |
C |
7: 18,087,446 (GRCm39) |
M71V |
probably benign |
Het |
Rapgef4 |
A |
G |
2: 72,008,581 (GRCm39) |
H253R |
probably benign |
Het |
Rfc4 |
T |
C |
16: 22,932,823 (GRCm39) |
*371W |
probably null |
Het |
Rgs18 |
T |
A |
1: 144,650,931 (GRCm39) |
K17* |
probably null |
Het |
Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
Sertm1 |
T |
C |
3: 54,806,788 (GRCm39) |
Y79C |
probably benign |
Het |
Sfrp1 |
T |
C |
8: 23,907,394 (GRCm39) |
I198T |
possibly damaging |
Het |
Slc15a2 |
T |
A |
16: 36,582,232 (GRCm39) |
I254F |
probably benign |
Het |
Slc29a4 |
A |
G |
5: 142,697,826 (GRCm39) |
D93G |
probably damaging |
Het |
Smo |
T |
C |
6: 29,736,113 (GRCm39) |
L35S |
unknown |
Het |
Tbc1d8 |
A |
G |
1: 39,411,669 (GRCm39) |
S1056P |
probably benign |
Het |
Ttll9 |
A |
G |
2: 152,841,261 (GRCm39) |
D286G |
probably damaging |
Het |
Vmn2r14 |
A |
G |
5: 109,364,096 (GRCm39) |
Y607H |
probably benign |
Het |
Vps8 |
T |
A |
16: 21,297,189 (GRCm39) |
C564S |
probably benign |
Het |
Zc3h12d |
A |
G |
10: 7,743,082 (GRCm39) |
H284R |
probably benign |
Het |
Zfp106 |
A |
T |
2: 120,362,585 (GRCm39) |
S79T |
probably damaging |
Het |
|
Other mutations in Pmm1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01287:Pmm1
|
APN |
15 |
81,839,945 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
|
Predicted Primers |
|
Posted On |
2018-05-04 |