Incidental Mutation 'R8395:Mpped1'
ID |
647586 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mpped1
|
Ensembl Gene |
ENSMUSG00000041708 |
Gene Name |
metallophosphoesterase domain containing 1 |
Synonyms |
|
MMRRC Submission |
067759-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.110)
|
Stock # |
R8395 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
83663668-83742695 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 83684257 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 93
(V93A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000041981
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046168]
[ENSMUST00000109470]
[ENSMUST00000123387]
[ENSMUST00000163723]
[ENSMUST00000172115]
[ENSMUST00000172398]
|
AlphaFold |
Q91ZG2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000046168
AA Change: V93A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000041981 Gene: ENSMUSG00000041708 AA Change: V93A
Domain | Start | End | E-Value | Type |
Pfam:Metallophos
|
90 |
288 |
1e-13 |
PFAM |
Pfam:Metallophos_2
|
91 |
314 |
8.3e-9 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000109470
AA Change: V93A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000105096 Gene: ENSMUSG00000041708 AA Change: V93A
Domain | Start | End | E-Value | Type |
Pfam:Metallophos
|
90 |
288 |
1.9e-13 |
PFAM |
Pfam:Metallophos_2
|
91 |
318 |
4.9e-9 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000123387
AA Change: V93A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000123230 Gene: ENSMUSG00000041708 AA Change: V93A
Domain | Start | End | E-Value | Type |
PDB:3RL3|A
|
33 |
137 |
2e-54 |
PDB |
|
Predicted Effect |
|
SMART Domains |
Protein: ENSMUSP00000128786 Gene: ENSMUSG00000041708 AA Change: V89A
Domain | Start | End | E-Value | Type |
Pfam:Metallophos
|
87 |
217 |
6.7e-9 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000163723
|
SMART Domains |
Protein: ENSMUSP00000126242 Gene: ENSMUSG00000041708
Domain | Start | End | E-Value | Type |
Pfam:Metallophos
|
5 |
130 |
3e-6 |
PFAM |
|
Predicted Effect |
|
SMART Domains |
Protein: ENSMUSP00000125835 Gene: ENSMUSG00000041708 AA Change: V9A
Domain | Start | End | E-Value | Type |
Pfam:Metallophos
|
7 |
147 |
2.8e-9 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000172115
AA Change: V93A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000132518 Gene: ENSMUSG00000041708 AA Change: V93A
Domain | Start | End | E-Value | Type |
PDB:3RL3|A
|
33 |
136 |
1e-52 |
PDB |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000172398
AA Change: V93A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000131333 Gene: ENSMUSG00000041708 AA Change: V93A
Domain | Start | End | E-Value | Type |
PDB:3RL3|A
|
33 |
140 |
2e-47 |
PDB |
SCOP:d4kbpa2
|
84 |
133 |
9e-3 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb9 |
T |
C |
5: 124,218,280 (GRCm39) |
E352G |
possibly damaging |
Het |
Ascc3 |
T |
C |
10: 50,525,400 (GRCm39) |
F532L |
possibly damaging |
Het |
Bckdk |
G |
A |
7: 127,507,139 (GRCm39) |
V328I |
probably benign |
Het |
Cenpu |
T |
C |
8: 47,007,084 (GRCm39) |
Y26H |
probably benign |
Het |
Clk3 |
A |
T |
9: 57,672,445 (GRCm39) |
V119E |
probably benign |
Het |
Cnn2 |
A |
G |
10: 79,828,293 (GRCm39) |
N90S |
probably benign |
Het |
Dlk2 |
T |
C |
17: 46,611,969 (GRCm39) |
I78T |
probably damaging |
Het |
Ercc8 |
G |
T |
13: 108,323,788 (GRCm39) |
E367* |
probably null |
Het |
Gbp9 |
A |
T |
5: 105,228,069 (GRCm39) |
I571K |
probably damaging |
Het |
Gm3404 |
T |
C |
5: 146,462,724 (GRCm39) |
I29T |
possibly damaging |
Het |
Gpat4 |
GTGTT |
GT |
8: 23,669,498 (GRCm39) |
|
probably benign |
Het |
Heatr5a |
A |
G |
12: 51,962,961 (GRCm39) |
S74P |
|
Het |
Htr6 |
T |
G |
4: 138,789,078 (GRCm39) |
M326L |
possibly damaging |
Het |
Ighv5-8 |
C |
T |
12: 113,618,813 (GRCm39) |
A76V |
unknown |
Het |
Ippk |
A |
G |
13: 49,615,096 (GRCm39) |
E493G |
probably damaging |
Het |
Kiz |
A |
G |
2: 146,794,949 (GRCm39) |
N603S |
possibly damaging |
Het |
Limch1 |
A |
T |
5: 67,126,394 (GRCm39) |
K7N |
probably damaging |
Het |
Lrp1b |
C |
T |
2: 40,547,411 (GRCm39) |
C4257Y |
|
Het |
Map4k5 |
C |
G |
12: 69,877,203 (GRCm39) |
R381T |
probably null |
Het |
Map9 |
A |
G |
3: 82,289,276 (GRCm39) |
I455V |
probably benign |
Het |
Myh10 |
T |
C |
11: 68,682,842 (GRCm39) |
L1129P |
probably damaging |
Het |
Neb |
T |
A |
2: 52,065,645 (GRCm39) |
M6196L |
probably benign |
Het |
Neb |
C |
A |
2: 52,147,806 (GRCm39) |
V2738F |
probably damaging |
Het |
Or10ad1 |
A |
G |
15: 98,105,500 (GRCm39) |
V255A |
probably benign |
Het |
Or8k18 |
G |
A |
2: 86,085,878 (GRCm39) |
S53F |
possibly damaging |
Het |
Sgf29 |
T |
A |
7: 126,271,837 (GRCm39) |
C287* |
probably null |
Het |
Siglece |
A |
G |
7: 43,305,523 (GRCm39) |
V398A |
probably benign |
Het |
Slc43a1 |
T |
C |
2: 84,671,266 (GRCm39) |
L67P |
probably damaging |
Het |
Slco2a1 |
A |
G |
9: 102,954,239 (GRCm39) |
H470R |
probably benign |
Het |
Spata31d1e |
A |
G |
13: 59,889,540 (GRCm39) |
V760A |
probably benign |
Het |
Syngr1 |
T |
C |
15: 79,997,445 (GRCm39) |
S188P |
probably benign |
Het |
Trpm4 |
T |
C |
7: 44,958,634 (GRCm39) |
D885G |
probably benign |
Het |
Ubd |
A |
T |
17: 37,506,249 (GRCm39) |
Q45L |
probably damaging |
Het |
Unc45a |
A |
T |
7: 79,976,080 (GRCm39) |
C800S |
probably benign |
Het |
Vmn2r112 |
A |
G |
17: 22,837,587 (GRCm39) |
T683A |
possibly damaging |
Het |
Vmn2r25 |
T |
A |
6: 123,799,982 (GRCm39) |
T787S |
possibly damaging |
Het |
Vmn2r85 |
G |
A |
10: 130,261,797 (GRCm39) |
P180L |
probably damaging |
Het |
Vtcn1 |
T |
C |
3: 100,791,070 (GRCm39) |
F36S |
probably benign |
Het |
Wdr86 |
A |
G |
5: 24,935,187 (GRCm39) |
L52P |
probably damaging |
Het |
Xpo4 |
A |
T |
14: 57,885,924 (GRCm39) |
S43T |
probably benign |
Het |
Zfp217 |
G |
A |
2: 169,961,571 (GRCm39) |
S252F |
possibly damaging |
Het |
|
Other mutations in Mpped1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01330:Mpped1
|
APN |
15 |
83,684,320 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01402:Mpped1
|
APN |
15 |
83,676,414 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL02004:Mpped1
|
APN |
15 |
83,684,357 (GRCm39) |
missense |
probably damaging |
1.00 |
R0336:Mpped1
|
UTSW |
15 |
83,720,483 (GRCm39) |
missense |
probably damaging |
1.00 |
R1582:Mpped1
|
UTSW |
15 |
83,676,191 (GRCm39) |
unclassified |
probably benign |
|
R1635:Mpped1
|
UTSW |
15 |
83,676,191 (GRCm39) |
unclassified |
probably benign |
|
R1636:Mpped1
|
UTSW |
15 |
83,676,191 (GRCm39) |
unclassified |
probably benign |
|
R1637:Mpped1
|
UTSW |
15 |
83,676,191 (GRCm39) |
unclassified |
probably benign |
|
R1778:Mpped1
|
UTSW |
15 |
83,676,191 (GRCm39) |
unclassified |
probably benign |
|
R3787:Mpped1
|
UTSW |
15 |
83,680,784 (GRCm39) |
intron |
probably benign |
|
R4114:Mpped1
|
UTSW |
15 |
83,680,910 (GRCm39) |
intron |
probably benign |
|
R4116:Mpped1
|
UTSW |
15 |
83,680,910 (GRCm39) |
intron |
probably benign |
|
R4977:Mpped1
|
UTSW |
15 |
83,680,907 (GRCm39) |
intron |
probably benign |
|
R4982:Mpped1
|
UTSW |
15 |
83,720,528 (GRCm39) |
missense |
probably damaging |
1.00 |
R6352:Mpped1
|
UTSW |
15 |
83,720,564 (GRCm39) |
missense |
probably damaging |
1.00 |
R6765:Mpped1
|
UTSW |
15 |
83,720,584 (GRCm39) |
missense |
probably damaging |
1.00 |
R7499:Mpped1
|
UTSW |
15 |
83,684,251 (GRCm39) |
missense |
probably damaging |
1.00 |
R8056:Mpped1
|
UTSW |
15 |
83,720,663 (GRCm39) |
missense |
possibly damaging |
0.63 |
R8956:Mpped1
|
UTSW |
15 |
83,740,469 (GRCm39) |
missense |
probably damaging |
1.00 |
R8959:Mpped1
|
UTSW |
15 |
83,676,342 (GRCm39) |
missense |
probably damaging |
0.99 |
R9229:Mpped1
|
UTSW |
15 |
83,738,673 (GRCm39) |
missense |
possibly damaging |
0.79 |
R9747:Mpped1
|
UTSW |
15 |
83,684,305 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CAAGGACATTTTGCTGGGTC -3'
(R):5'- GGGCAGCTCCAGATATAACATCC -3'
Sequencing Primer
(F):5'- GTCCTCTAGAAGGCTCATGTTCAG -3'
(R):5'- GCTCCAGATATAACATCCTCCCAAG -3'
|
Posted On |
2020-09-02 |