Incidental Mutation 'IGL02004:Mpped1'
| ID |
182220 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mpped1
|
| Ensembl Gene |
ENSMUSG00000041708 |
| Gene Name |
metallophosphoesterase domain containing 1 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.110)
|
| Stock # |
IGL02004
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
83663668-83742695 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 83684357 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 126
(S126R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131333
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046168]
[ENSMUST00000109470]
[ENSMUST00000123387]
[ENSMUST00000163723]
[ENSMUST00000172115]
[ENSMUST00000172398]
|
| AlphaFold |
Q91ZG2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000046168
AA Change: S126R
PolyPhen 2
Score 0.774 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000041981
Gene: ENSMUSG00000041708
AA Change: S126R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Metallophos
|
90 |
288 |
1e-13 |
PFAM |
|
Pfam:Metallophos_2
|
91 |
314 |
8.3e-9 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109470
AA Change: S126R
PolyPhen 2
Score 0.774 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000105096
Gene: ENSMUSG00000041708
AA Change: S126R
| 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
AA Change: S126R
PolyPhen 2
Score 0.401 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000123230
Gene: ENSMUSG00000041708
AA Change: S126R
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3RL3|A
|
33 |
137 |
2e-54 |
PDB |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000150489
AA Change: S122R
|
| SMART Domains |
Protein: ENSMUSP00000128786
Gene: ENSMUSG00000041708
AA Change: S122R
| 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 |
unknown
Transcript: ENSMUST00000171560
AA Change: S42R
|
| SMART Domains |
Protein: ENSMUSP00000125835
Gene: ENSMUSG00000041708
AA Change: S42R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Metallophos
|
7 |
147 |
2.8e-9 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000172115
AA Change: S126R
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000132518
Gene: ENSMUSG00000041708
AA Change: S126R
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3RL3|A
|
33 |
136 |
1e-52 |
PDB |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000172398
AA Change: S126R
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000131333
Gene: ENSMUSG00000041708
AA Change: S126R
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3RL3|A
|
33 |
140 |
2e-47 |
PDB |
|
SCOP:d4kbpa2
|
84 |
133 |
9e-3 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427D14Rik |
G |
T |
11: 72,082,423 (GRCm39) |
A301E |
possibly damaging |
Het |
| C4b |
A |
T |
17: 34,957,984 (GRCm39) |
|
probably benign |
Het |
| Cep85 |
A |
G |
4: 133,894,698 (GRCm39) |
V36A |
probably damaging |
Het |
| Cnot10 |
A |
T |
9: 114,451,998 (GRCm39) |
F259L |
probably damaging |
Het |
| Crim1 |
T |
C |
17: 78,680,004 (GRCm39) |
|
probably benign |
Het |
| Crispld1 |
G |
A |
1: 17,817,744 (GRCm39) |
A216T |
probably damaging |
Het |
| Cyp8b1 |
T |
C |
9: 121,744,058 (GRCm39) |
I425V |
probably benign |
Het |
| Fat2 |
A |
T |
11: 55,173,666 (GRCm39) |
V2349D |
probably damaging |
Het |
| Fer |
G |
T |
17: 64,231,174 (GRCm39) |
|
probably null |
Het |
| Galnt3 |
T |
C |
2: 65,926,270 (GRCm39) |
T313A |
probably damaging |
Het |
| Hsd3b9 |
T |
A |
3: 98,363,735 (GRCm39) |
R37W |
probably damaging |
Het |
| Igkv10-94 |
A |
T |
6: 68,681,928 (GRCm39) |
L12* |
probably null |
Het |
| Kcnj3 |
G |
A |
2: 55,327,243 (GRCm39) |
D11N |
probably benign |
Het |
| Kit |
T |
A |
5: 75,781,674 (GRCm39) |
S368T |
probably benign |
Het |
| Mark1 |
G |
A |
1: 184,644,786 (GRCm39) |
S390L |
possibly damaging |
Het |
| Myh15 |
A |
C |
16: 48,930,892 (GRCm39) |
|
probably benign |
Het |
| Nat1 |
G |
A |
8: 67,943,878 (GRCm39) |
E85K |
probably benign |
Het |
| Or9q1 |
T |
C |
19: 13,805,427 (GRCm39) |
D111G |
possibly damaging |
Het |
| Pde3b |
A |
T |
7: 114,118,852 (GRCm39) |
M664L |
possibly damaging |
Het |
| Phrf1 |
A |
G |
7: 140,840,246 (GRCm39) |
D1147G |
probably benign |
Het |
| Pth1r |
G |
T |
9: 110,571,376 (GRCm39) |
|
probably benign |
Het |
| Shank3 |
C |
T |
15: 89,387,502 (GRCm39) |
|
probably benign |
Het |
| Slc39a7 |
A |
C |
17: 34,250,095 (GRCm39) |
|
probably benign |
Het |
| Slc6a1 |
A |
G |
6: 114,291,286 (GRCm39) |
T520A |
probably benign |
Het |
| St3gal2 |
C |
A |
8: 111,696,804 (GRCm39) |
A317E |
probably damaging |
Het |
| St3gal3 |
C |
A |
4: 117,817,236 (GRCm39) |
L139F |
possibly damaging |
Het |
| Sval3 |
T |
A |
6: 41,949,776 (GRCm39) |
|
probably benign |
Het |
| Syvn1 |
G |
A |
19: 6,102,437 (GRCm39) |
A502T |
probably benign |
Het |
| Tm4sf1 |
T |
C |
3: 57,200,499 (GRCm39) |
I68V |
possibly damaging |
Het |
| Tnrc6a |
T |
A |
7: 122,780,589 (GRCm39) |
N1326K |
possibly damaging |
Het |
| Tvp23b |
G |
A |
11: 62,782,826 (GRCm39) |
C174Y |
probably damaging |
Het |
| Zfp750 |
T |
C |
11: 121,402,975 (GRCm39) |
D591G |
probably benign |
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 |
|
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 |
|
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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation