Incidental Mutation 'R8959:Mpped1'
| ID |
682232 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R8959 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
83663668-83742695 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 83676342 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 36
(R36Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132518
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046168]
[ENSMUST00000109469]
[ENSMUST00000109470]
[ENSMUST00000123387]
[ENSMUST00000163723]
[ENSMUST00000172115]
[ENSMUST00000172398]
|
| AlphaFold |
Q91ZG2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000046168
AA Change: R36Q
PolyPhen 2
Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000041981
Gene: ENSMUSG00000041708
AA Change: R36Q
| 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 benign
Transcript: ENSMUST00000109469
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109470
AA Change: R36Q
PolyPhen 2
Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000105096
Gene: ENSMUSG00000041708
AA Change: R36Q
| 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: R36Q
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000123230
Gene: ENSMUSG00000041708
AA Change: R36Q
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3RL3|A
|
33 |
137 |
2e-54 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150489
|
| SMART Domains |
Protein: ENSMUSP00000128786
Gene: ENSMUSG00000041708
| 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 |
probably damaging
Transcript: ENSMUST00000172115
AA Change: R36Q
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000132518
Gene: ENSMUSG00000041708
AA Change: R36Q
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3RL3|A
|
33 |
136 |
1e-52 |
PDB |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000172398
AA Change: R36Q
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000131333
Gene: ENSMUSG00000041708
AA Change: R36Q
| 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: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
100% (48/48) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp4 |
G |
T |
7: 43,906,399 (GRCm39) |
T51K |
possibly damaging |
Het |
| Angel2 |
C |
T |
1: 190,665,332 (GRCm39) |
R88C |
probably damaging |
Het |
| Ankrd13b |
G |
A |
11: 77,367,452 (GRCm39) |
R181C |
probably damaging |
Het |
| Bmal2 |
T |
C |
6: 146,722,142 (GRCm39) |
C238R |
probably benign |
Het |
| Brd3 |
C |
T |
2: 27,354,013 (GRCm39) |
R33Q |
probably damaging |
Het |
| Ccdc106 |
T |
A |
7: 5,060,500 (GRCm39) |
L20Q |
probably benign |
Het |
| Ccdc117 |
A |
T |
11: 5,491,421 (GRCm39) |
V62D |
possibly damaging |
Het |
| Ccnt1 |
T |
C |
15: 98,441,096 (GRCm39) |
|
probably benign |
Het |
| Cfap95 |
T |
C |
19: 23,536,385 (GRCm39) |
E174G |
possibly damaging |
Het |
| Cmip |
G |
A |
8: 118,138,054 (GRCm39) |
V178I |
probably benign |
Het |
| Cnnm3 |
A |
G |
1: 36,558,096 (GRCm39) |
E436G |
probably damaging |
Het |
| Dcaf11 |
A |
G |
14: 55,806,761 (GRCm39) |
N488S |
probably benign |
Het |
| Dlg2 |
A |
T |
7: 90,501,927 (GRCm39) |
K80* |
probably null |
Het |
| Dnase1l2 |
T |
A |
17: 24,661,642 (GRCm39) |
D39V |
probably damaging |
Het |
| Dysf |
A |
G |
6: 84,078,945 (GRCm39) |
D708G |
probably benign |
Het |
| Enpep |
A |
T |
3: 129,113,090 (GRCm39) |
L278Q |
probably damaging |
Het |
| Ephb6 |
C |
T |
6: 41,590,293 (GRCm39) |
A15V |
probably benign |
Het |
| Flt3 |
T |
G |
5: 147,303,774 (GRCm39) |
Q388P |
possibly damaging |
Het |
| Hltf |
A |
G |
3: 20,136,936 (GRCm39) |
Y329C |
probably damaging |
Het |
| Hmcn2 |
C |
T |
2: 31,282,159 (GRCm39) |
P1924S |
probably damaging |
Het |
| Iba57 |
A |
G |
11: 59,052,461 (GRCm39) |
V122A |
probably benign |
Het |
| Il18rap |
C |
T |
1: 40,582,177 (GRCm39) |
T366M |
probably benign |
Het |
| Irak2 |
T |
A |
6: 113,624,702 (GRCm39) |
M66K |
probably damaging |
Het |
| Mkrn2os |
G |
C |
6: 115,562,317 (GRCm39) |
S215R |
probably benign |
Het |
| Myh1 |
C |
A |
11: 67,102,328 (GRCm39) |
A873E |
probably benign |
Het |
| Nedd9 |
G |
T |
13: 41,469,758 (GRCm39) |
A465D |
probably damaging |
Het |
| Nr2f1 |
G |
T |
13: 78,337,873 (GRCm39) |
Y257* |
probably null |
Het |
| Omd |
A |
G |
13: 49,745,790 (GRCm39) |
E400G |
possibly damaging |
Het |
| Or5j1 |
T |
A |
2: 86,879,551 (GRCm39) |
T10S |
possibly damaging |
Het |
| Or6c202 |
A |
G |
10: 128,996,484 (GRCm39) |
I123T |
probably damaging |
Het |
| Patj |
T |
C |
4: 98,480,212 (GRCm39) |
S1306P |
probably damaging |
Het |
| Pdzph1 |
T |
C |
17: 59,281,599 (GRCm39) |
K228E |
probably damaging |
Het |
| Prl2c5 |
A |
G |
13: 13,365,392 (GRCm39) |
|
probably benign |
Het |
| Rad18 |
T |
C |
6: 112,605,444 (GRCm39) |
E410G |
probably damaging |
Het |
| Rp1 |
T |
A |
1: 4,419,650 (GRCm39) |
|
probably benign |
Het |
| Runx3 |
C |
T |
4: 134,902,968 (GRCm39) |
S366L |
probably damaging |
Het |
| Ssh3 |
T |
A |
19: 4,318,590 (GRCm39) |
R30S |
probably damaging |
Het |
| Stxbp5l |
ATTTT |
ATTTTT |
16: 37,036,414 (GRCm39) |
|
probably null |
Het |
| Taf6l |
A |
G |
19: 8,750,690 (GRCm39) |
F128S |
possibly damaging |
Het |
| Tmc6 |
A |
C |
11: 117,661,293 (GRCm39) |
|
probably null |
Het |
| Trpc3 |
T |
G |
3: 36,709,258 (GRCm39) |
Q406P |
probably benign |
Het |
| Uncx |
C |
A |
5: 139,529,826 (GRCm39) |
Y26* |
probably null |
Het |
| Urb1 |
T |
C |
16: 90,571,005 (GRCm39) |
D1268G |
probably benign |
Het |
| Wif1 |
T |
C |
10: 120,931,957 (GRCm39) |
C294R |
probably damaging |
Het |
| Zfp521 |
C |
A |
18: 13,979,137 (GRCm39) |
L425F |
probably damaging |
Het |
| Zfp78 |
A |
G |
7: 6,382,380 (GRCm39) |
R477G |
probably 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 |
|
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 |
|
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'- TCTTCAGTCTGTTCGCAGG -3'
(R):5'- AGCCCCGGAATGTGTGTTTG -3'
Sequencing Primer
(F):5'- CTGTTCGCAGGTCTGGC -3'
(R):5'- TGGGTGGACCTGAAGCCAG -3'
|
| Posted On |
2021-08-31 |
Incidental Mutation