Incidental Mutation 'R4645:Mpi'
| ID |
350173 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mpi
|
| Ensembl Gene |
ENSMUSG00000032306 |
| Gene Name |
mannose phosphate isomerase |
| Synonyms |
Mpi-1, 1110002E17Rik, Mpi1 |
| MMRRC Submission |
041906-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4645 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
57451539-57460046 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 57458040 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 54
(H54R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034856
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034856]
|
| AlphaFold |
Q924M7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034856
AA Change: H54R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034856
Gene: ENSMUSG00000032306
AA Change: H54R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PMI_typeI
|
6 |
384 |
4.3e-145 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124593
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140671
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145543
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000156428
AA Change: H50R
|
| SMART Domains |
Protein: ENSMUSP00000119342
Gene: ENSMUSG00000032306
AA Change: H50R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PMI_typeI
|
3 |
119 |
3.1e-45 |
PFAM |
|
| Meta Mutation Damage Score |
0.9748 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
98% (53/54) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Phosphomannose isomerase catalyzes the interconversion of fructose-6-phosphate and mannose-6-phosphate and plays a critical role in maintaining the supply of D-mannose derivatives, which are required for most glycosylation reactions. Mutations in the MPI gene were found in patients with carbohydrate-deficient glycoprotein syndrome, type Ib. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
PHENOTYPE: Homozygous null mice display embryonic lethality during organogenesis, variable abnormalities of the yolk sac and embryonic vasculature, and partial penetrance of abnormal chorioallantoic fusion, placental defects, impaired emrbyo turning, increased apoptosis, and posterior axial truncations. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(6) : Targeted, other(2) Gene trapped(4) |
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc10 |
T |
C |
17: 46,635,700 (GRCm39) |
E101G |
probably damaging |
Het |
| Adgrf5 |
A |
G |
17: 43,748,416 (GRCm39) |
E29G |
probably damaging |
Het |
| Agfg2 |
T |
A |
5: 137,682,854 (GRCm39) |
|
probably benign |
Het |
| Ap4b1 |
A |
G |
3: 103,728,765 (GRCm39) |
S468G |
probably benign |
Het |
| AY702103 |
G |
T |
17: 50,546,941 (GRCm39) |
|
noncoding transcript |
Het |
| Ccdc14 |
T |
C |
16: 34,542,110 (GRCm39) |
L536S |
probably damaging |
Het |
| Ccr9 |
G |
T |
9: 123,608,658 (GRCm39) |
M101I |
probably benign |
Het |
| Celsr1 |
A |
T |
15: 85,800,957 (GRCm39) |
V2496E |
probably benign |
Het |
| Celsr2 |
C |
A |
3: 108,303,285 (GRCm39) |
G2486V |
probably damaging |
Het |
| Cntnap3 |
A |
G |
13: 64,926,602 (GRCm39) |
|
probably null |
Het |
| Erlin1 |
T |
C |
19: 44,057,759 (GRCm39) |
Y22C |
probably damaging |
Het |
| Fam135b |
T |
C |
15: 71,334,189 (GRCm39) |
T1002A |
probably benign |
Het |
| Gas2l3 |
CACTCGTCATACT |
CACT |
10: 89,266,820 (GRCm39) |
|
probably benign |
Het |
| Glud1 |
T |
C |
14: 34,033,063 (GRCm39) |
V70A |
probably damaging |
Het |
| Hdlbp |
A |
G |
1: 93,349,842 (GRCm39) |
|
probably benign |
Het |
| Immt |
T |
C |
6: 71,833,923 (GRCm39) |
L184P |
probably damaging |
Het |
| Iqsec1 |
T |
G |
6: 90,644,995 (GRCm39) |
K983T |
probably damaging |
Het |
| Klhl6 |
A |
T |
16: 19,765,897 (GRCm39) |
N568K |
probably damaging |
Het |
| Lbhd1 |
T |
G |
19: 8,861,452 (GRCm39) |
|
probably benign |
Het |
| Lrit2 |
C |
T |
14: 36,794,432 (GRCm39) |
R499C |
probably benign |
Het |
| Lrp6 |
T |
C |
6: 134,461,213 (GRCm39) |
D748G |
probably damaging |
Het |
| Lrriq4 |
A |
G |
3: 30,704,892 (GRCm39) |
K292E |
probably benign |
Het |
| Ly96 |
G |
T |
1: 16,761,940 (GRCm39) |
E49* |
probably null |
Het |
| Lztr1 |
C |
T |
16: 17,341,955 (GRCm39) |
|
probably benign |
Het |
| Mmp12 |
A |
G |
9: 7,347,515 (GRCm39) |
M31V |
probably benign |
Het |
| Mok |
A |
T |
12: 110,774,873 (GRCm39) |
|
probably benign |
Het |
| Naip5 |
T |
A |
13: 100,356,338 (GRCm39) |
E1092D |
probably benign |
Het |
| Or4c101 |
T |
C |
2: 88,390,722 (GRCm39) |
I292T |
probably damaging |
Het |
| Pomt1 |
G |
T |
2: 32,132,888 (GRCm39) |
|
probably benign |
Het |
| Ptpn20 |
G |
A |
14: 33,353,169 (GRCm39) |
V303I |
probably benign |
Het |
| Pyroxd1 |
C |
G |
6: 142,300,467 (GRCm39) |
S199* |
probably null |
Het |
| Shank2 |
A |
G |
7: 143,964,159 (GRCm39) |
K799R |
possibly damaging |
Het |
| Sim1 |
A |
T |
10: 50,860,093 (GRCm39) |
T652S |
probably benign |
Het |
| Slc8a2 |
C |
T |
7: 15,868,164 (GRCm39) |
T132I |
probably damaging |
Het |
| Spaca6 |
A |
T |
17: 18,056,307 (GRCm39) |
|
probably benign |
Het |
| Sympk |
G |
T |
7: 18,777,385 (GRCm39) |
R545L |
possibly damaging |
Het |
| Tenm4 |
G |
T |
7: 96,544,949 (GRCm39) |
G2322W |
probably damaging |
Het |
| Thap1 |
A |
G |
8: 26,652,597 (GRCm39) |
T135A |
probably damaging |
Het |
| Traf3 |
T |
C |
12: 111,228,400 (GRCm39) |
V537A |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,578,680 (GRCm39) |
D24071G |
probably damaging |
Het |
| Tysnd1 |
G |
T |
10: 61,531,962 (GRCm39) |
V205L |
probably benign |
Het |
| Unc79 |
T |
C |
12: 103,079,081 (GRCm39) |
S1749P |
probably benign |
Het |
| Vmn2r50 |
T |
A |
7: 9,771,162 (GRCm39) |
*846C |
probably null |
Het |
| Vmn2r74 |
C |
T |
7: 85,606,317 (GRCm39) |
S343N |
probably benign |
Het |
| Zfyve28 |
T |
G |
5: 34,379,787 (GRCm39) |
|
probably benign |
Het |
| Zmym2 |
T |
C |
14: 57,165,764 (GRCm39) |
S696P |
probably damaging |
Het |
| Zscan4e |
T |
C |
7: 11,041,002 (GRCm39) |
Y290C |
possibly damaging |
Het |
| Zswim2 |
G |
T |
2: 83,745,891 (GRCm39) |
H516N |
probably benign |
Het |
|
| Other mutations in Mpi |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00921:Mpi
|
APN |
9 |
57,459,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01071:Mpi
|
APN |
9 |
57,457,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01604:Mpi
|
APN |
9 |
57,458,025 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL02090:Mpi
|
APN |
9 |
57,457,936 (GRCm39) |
missense |
probably benign |
0.00 |
|
benadryl
|
UTSW |
9 |
57,458,040 (GRCm39) |
missense |
probably damaging |
1.00 |
|
sleepies
|
UTSW |
9 |
57,452,472 (GRCm39) |
unclassified |
probably benign |
|
|
Zyrtec
|
UTSW |
9 |
57,452,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
F6893:Mpi
|
UTSW |
9 |
57,453,832 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0751:Mpi
|
UTSW |
9 |
57,457,897 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1146:Mpi
|
UTSW |
9 |
57,452,472 (GRCm39) |
unclassified |
probably benign |
|
|
R3727:Mpi
|
UTSW |
9 |
57,452,132 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R3944:Mpi
|
UTSW |
9 |
57,452,536 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4772:Mpi
|
UTSW |
9 |
57,452,181 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4856:Mpi
|
UTSW |
9 |
57,452,590 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5088:Mpi
|
UTSW |
9 |
57,457,887 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5504:Mpi
|
UTSW |
9 |
57,452,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5886:Mpi
|
UTSW |
9 |
57,455,745 (GRCm39) |
unclassified |
probably benign |
|
|
R7038:Mpi
|
UTSW |
9 |
57,452,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7953:Mpi
|
UTSW |
9 |
57,457,881 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8043:Mpi
|
UTSW |
9 |
57,457,881 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8296:Mpi
|
UTSW |
9 |
57,455,954 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8436:Mpi
|
UTSW |
9 |
57,452,200 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9696:Mpi
|
UTSW |
9 |
57,452,539 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9742:Mpi
|
UTSW |
9 |
57,452,606 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF013:Mpi
|
UTSW |
9 |
57,455,924 (GRCm39) |
missense |
probably benign |
0.31 |
|
| Predicted Primers |
PCR Primer
(F):5'- GATCCCGTACCTTGTTAGGGTG -3'
(R):5'- TCTATTGTTGAGACTCATGCTTTCG -3'
Sequencing Primer
(F):5'- AGGGTGTGCCTGGATAGAC -3'
(R):5'- AGACTCATGCTTTCGGAGAC -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation