Incidental Mutation 'R6352:Mpped1'
| ID |
513302 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mpped1
|
| Ensembl Gene |
ENSMUSG00000041708 |
| Gene Name |
metallophosphoesterase domain containing 1 |
| Synonyms |
|
| MMRRC Submission |
044504-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.110)
|
| Stock # |
R6352 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
83663668-83742695 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 83720564 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 8
(D8G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126242
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046168]
[ENSMUST00000109470]
[ENSMUST00000123387]
[ENSMUST00000125739]
[ENSMUST00000148868]
[ENSMUST00000163723]
[ENSMUST00000172115]
[ENSMUST00000172398]
|
| AlphaFold |
Q91ZG2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000046168
AA Change: D166G
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000041981
Gene: ENSMUSG00000041708
AA Change: D166G
| 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: D166G
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000105096
Gene: ENSMUSG00000041708
AA Change: D166G
| 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 benign
Transcript: ENSMUST00000123387
|
| SMART Domains |
Protein: ENSMUSP00000123230
Gene: ENSMUSG00000041708
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3RL3|A
|
33 |
137 |
2e-54 |
PDB |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000125739
AA Change: D8G
PolyPhen 2
Score 0.716 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000131463
Gene: ENSMUSG00000041708
AA Change: D8G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Metallophos
|
5 |
130 |
2.2e-6 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000148868
AA Change: D83G
PolyPhen 2
Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000131679
Gene: ENSMUSG00000041708
AA Change: D83G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Metallophos
|
49 |
203 |
4.6e-9 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000150489
AA Change: D162G
|
| SMART Domains |
Protein: ENSMUSP00000128786
Gene: ENSMUSG00000041708
AA Change: D162G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Metallophos
|
87 |
217 |
6.7e-9 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000163723
AA Change: D8G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126242
Gene: ENSMUSG00000041708
AA Change: D8G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Metallophos
|
5 |
130 |
3e-6 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000171560
AA Change: D82G
|
| SMART Domains |
Protein: ENSMUSP00000125835
Gene: ENSMUSG00000041708
AA Change: D82G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Metallophos
|
7 |
147 |
2.8e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172115
|
| SMART Domains |
Protein: ENSMUSP00000132518
Gene: ENSMUSG00000041708
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3RL3|A
|
33 |
136 |
1e-52 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172398
|
| SMART Domains |
Protein: ENSMUSP00000131333
Gene: ENSMUSG00000041708
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3RL3|A
|
33 |
140 |
2e-47 |
PDB |
|
SCOP:d4kbpa2
|
84 |
133 |
9e-3 |
SMART |
|
| Meta Mutation Damage Score |
0.1802 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.2%
|
| Validation Efficiency |
96% (48/50) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700122O11Rik |
T |
C |
17: 48,347,945 (GRCm39) |
S120G |
probably benign |
Het |
| Abca13 |
G |
A |
11: 9,259,139 (GRCm39) |
|
probably null |
Het |
| Aco1 |
G |
A |
4: 40,186,367 (GRCm39) |
R593Q |
probably benign |
Het |
| Adgra3 |
T |
A |
5: 50,136,478 (GRCm39) |
D669V |
probably benign |
Het |
| Adgra3 |
T |
A |
5: 50,147,592 (GRCm39) |
M483L |
probably benign |
Het |
| Ccdc42 |
T |
C |
11: 68,485,191 (GRCm39) |
V88A |
probably damaging |
Het |
| Cdh16 |
G |
C |
8: 105,343,624 (GRCm39) |
S624C |
probably damaging |
Het |
| Cpt1c |
A |
T |
7: 44,616,219 (GRCm39) |
|
probably null |
Het |
| Cul9 |
T |
C |
17: 46,822,241 (GRCm39) |
T1795A |
probably benign |
Het |
| Dnah2 |
C |
T |
11: 69,339,053 (GRCm39) |
V3098I |
probably damaging |
Het |
| Fbxl16 |
T |
C |
17: 26,037,919 (GRCm39) |
L426P |
probably damaging |
Het |
| Flt4 |
T |
C |
11: 49,534,333 (GRCm39) |
I1168T |
probably benign |
Het |
| Fmo5 |
T |
C |
3: 97,552,991 (GRCm39) |
V313A |
probably benign |
Het |
| Foxj3 |
A |
G |
4: 119,442,975 (GRCm39) |
N133S |
probably damaging |
Het |
| Gbp8 |
T |
C |
5: 105,162,926 (GRCm39) |
I489M |
possibly damaging |
Het |
| Gm10801 |
TC |
TCGAC |
2: 98,494,151 (GRCm39) |
|
probably benign |
Het |
| Hdgfl1 |
T |
G |
13: 26,953,733 (GRCm39) |
E113D |
probably benign |
Het |
| Heatr5a |
A |
T |
12: 51,997,949 (GRCm39) |
S317T |
possibly damaging |
Het |
| Hycc2 |
A |
G |
1: 58,596,471 (GRCm39) |
V38A |
probably damaging |
Het |
| Insr |
C |
T |
8: 3,223,479 (GRCm39) |
|
probably null |
Het |
| Iqcf5 |
A |
G |
9: 106,392,929 (GRCm39) |
E62G |
possibly damaging |
Het |
| Kcnj3 |
G |
A |
2: 55,327,561 (GRCm39) |
V117I |
probably benign |
Het |
| Klf9 |
T |
A |
19: 23,119,138 (GRCm39) |
M7K |
probably benign |
Het |
| Mboat1 |
G |
A |
13: 30,386,403 (GRCm39) |
G139E |
possibly damaging |
Het |
| Mical3 |
T |
C |
6: 120,929,434 (GRCm39) |
T1811A |
probably damaging |
Het |
| Mllt10 |
A |
C |
2: 18,128,604 (GRCm39) |
K117T |
probably damaging |
Het |
| Myh4 |
A |
T |
11: 67,143,108 (GRCm39) |
D1012V |
probably damaging |
Het |
| Myo9b |
C |
A |
8: 71,801,054 (GRCm39) |
P1070T |
probably benign |
Het |
| Myo9b |
C |
T |
8: 71,801,055 (GRCm39) |
P1071L |
probably benign |
Het |
| Nlrp1b |
T |
A |
11: 71,072,527 (GRCm39) |
I439F |
probably damaging |
Het |
| Nlrp9a |
T |
A |
7: 26,257,051 (GRCm39) |
I134N |
probably damaging |
Het |
| Nop2 |
C |
T |
6: 125,114,170 (GRCm39) |
T212M |
probably benign |
Het |
| Notch4 |
T |
C |
17: 34,786,435 (GRCm39) |
C188R |
probably damaging |
Het |
| Or10q12 |
A |
T |
19: 13,745,828 (GRCm39) |
M41L |
probably benign |
Het |
| Or2ag19 |
G |
T |
7: 106,444,429 (GRCm39) |
V204F |
probably damaging |
Het |
| Pgd |
C |
T |
4: 149,245,209 (GRCm39) |
|
probably null |
Het |
| Plet1 |
T |
C |
9: 50,412,407 (GRCm39) |
S142P |
probably damaging |
Het |
| Ptk7 |
A |
T |
17: 46,887,816 (GRCm39) |
W539R |
probably benign |
Het |
| Ptprd |
A |
T |
4: 76,009,789 (GRCm39) |
|
probably null |
Het |
| Rgs22 |
T |
G |
15: 36,093,067 (GRCm39) |
Q402P |
probably damaging |
Het |
| Rpl10a |
T |
C |
17: 28,549,820 (GRCm39) |
V167A |
possibly damaging |
Het |
| Sdr16c5 |
A |
G |
4: 4,016,421 (GRCm39) |
S2P |
probably benign |
Het |
| Slc14a2 |
T |
C |
18: 78,252,309 (GRCm39) |
M1V |
probably null |
Het |
| Spta1 |
T |
A |
1: 174,039,212 (GRCm39) |
M1185K |
possibly damaging |
Het |
| Syde2 |
G |
T |
3: 145,704,229 (GRCm39) |
E127* |
probably null |
Het |
| Thoc2l |
A |
G |
5: 104,668,064 (GRCm39) |
E862G |
probably benign |
Het |
| Ugt2b38 |
T |
A |
5: 87,571,860 (GRCm39) |
R57S |
possibly damaging |
Het |
| Wdr11 |
C |
T |
7: 129,208,399 (GRCm39) |
L385F |
possibly damaging |
Het |
| Wdr74 |
T |
C |
19: 8,716,822 (GRCm39) |
V200A |
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 |
|
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 |
|
R8395:Mpped1
|
UTSW |
15 |
83,684,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- CAGTGATTGTCCCCAGCTATC -3'
(R):5'- AACTTTGGGTCCCAATGCCC -3'
Sequencing Primer
(F):5'- AGCTATCTCCCTTTGGTGGC -3'
(R):5'- AATGCCCCTGTAGGAGACTG -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation