Incidental Mutation 'IGL01330:Mpped1'
ID |
74479 |
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 # |
IGL01330
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
83663668-83742695 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 83684320 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 114
(I114N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131333
(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: I114N
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000041981 Gene: ENSMUSG00000041708 AA Change: I114N
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: I114N
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000105096 Gene: ENSMUSG00000041708 AA Change: I114N
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: I114N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000123230 Gene: ENSMUSG00000041708 AA Change: I114N
Domain | Start | End | E-Value | Type |
PDB:3RL3|A
|
33 |
137 |
2e-54 |
PDB |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000150489
AA Change: I110N
|
SMART Domains |
Protein: ENSMUSP00000128786 Gene: ENSMUSG00000041708 AA Change: I110N
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: I30N
|
SMART Domains |
Protein: ENSMUSP00000125835 Gene: ENSMUSG00000041708 AA Change: I30N
Domain | Start | End | E-Value | Type |
Pfam:Metallophos
|
7 |
147 |
2.8e-9 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000172115
AA Change: I114N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000132518 Gene: ENSMUSG00000041708 AA Change: I114N
Domain | Start | End | E-Value | Type |
PDB:3RL3|A
|
33 |
136 |
1e-52 |
PDB |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000172398
AA Change: I114N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000131333 Gene: ENSMUSG00000041708 AA Change: I114N
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A1cf |
A |
G |
19: 31,898,351 (GRCm39) |
E245G |
possibly damaging |
Het |
Acap2 |
T |
C |
16: 30,973,495 (GRCm39) |
I43V |
probably damaging |
Het |
Acot11 |
T |
C |
4: 106,628,681 (GRCm39) |
T36A |
probably benign |
Het |
Bsn |
A |
G |
9: 107,988,112 (GRCm39) |
|
probably benign |
Het |
Capza2 |
T |
C |
6: 17,654,170 (GRCm39) |
|
probably null |
Het |
Cerkl |
A |
G |
2: 79,199,125 (GRCm39) |
I155T |
possibly damaging |
Het |
Dclre1b |
T |
C |
3: 103,710,442 (GRCm39) |
T490A |
probably benign |
Het |
Efcab6 |
G |
A |
15: 83,928,501 (GRCm39) |
S31L |
probably benign |
Het |
Faim |
T |
A |
9: 98,874,588 (GRCm39) |
M67K |
probably damaging |
Het |
Frem2 |
T |
G |
3: 53,562,662 (GRCm39) |
Q615P |
possibly damaging |
Het |
Fut9 |
A |
G |
4: 25,619,791 (GRCm39) |
V341A |
possibly damaging |
Het |
Grhpr |
T |
C |
4: 44,986,375 (GRCm39) |
F142L |
probably benign |
Het |
Kif14 |
T |
C |
1: 136,404,112 (GRCm39) |
V532A |
probably damaging |
Het |
Klk1b9 |
T |
A |
7: 43,627,867 (GRCm39) |
L55* |
probably null |
Het |
Kmt2e |
C |
A |
5: 23,702,946 (GRCm39) |
P1042Q |
possibly damaging |
Het |
Mtap |
C |
A |
4: 89,089,460 (GRCm39) |
T148K |
probably damaging |
Het |
Muc16 |
G |
A |
9: 18,419,803 (GRCm39) |
A8347V |
possibly damaging |
Het |
Nhs |
A |
T |
X: 160,624,449 (GRCm39) |
S967T |
probably damaging |
Het |
Npas3 |
A |
G |
12: 54,095,602 (GRCm39) |
Y344C |
probably damaging |
Het |
Or51q1 |
A |
T |
7: 103,629,349 (GRCm39) |
|
probably benign |
Het |
Or5an9 |
T |
C |
19: 12,187,404 (GRCm39) |
V158A |
possibly damaging |
Het |
Or8b12c |
T |
A |
9: 37,715,516 (GRCm39) |
F103Y |
probably damaging |
Het |
Osmr |
A |
G |
15: 6,871,509 (GRCm39) |
Y303H |
probably damaging |
Het |
Pcdhb8 |
A |
T |
18: 37,490,631 (GRCm39) |
I770F |
probably benign |
Het |
Pde4a |
C |
T |
9: 21,103,734 (GRCm39) |
|
probably benign |
Het |
Prkacb |
T |
G |
3: 146,457,266 (GRCm39) |
N79T |
probably damaging |
Het |
Psd3 |
A |
C |
8: 68,149,830 (GRCm39) |
Y1222D |
probably damaging |
Het |
Rrbp1 |
T |
A |
2: 143,810,538 (GRCm39) |
E847D |
possibly damaging |
Het |
Sbno1 |
A |
T |
5: 124,530,042 (GRCm39) |
D912E |
probably damaging |
Het |
Sgsm3 |
T |
A |
15: 80,895,053 (GRCm39) |
|
probably benign |
Het |
Shcbp1 |
T |
C |
8: 4,786,372 (GRCm39) |
T577A |
probably benign |
Het |
Siglec1 |
A |
T |
2: 130,925,456 (GRCm39) |
V335D |
probably damaging |
Het |
Siglec1 |
A |
T |
2: 130,916,925 (GRCm39) |
L1110* |
probably null |
Het |
Slc4a11 |
A |
G |
2: 130,529,602 (GRCm39) |
I335T |
probably benign |
Het |
Smchd1 |
A |
C |
17: 71,743,783 (GRCm39) |
S461A |
probably benign |
Het |
Spata16 |
C |
T |
3: 26,968,864 (GRCm39) |
P415S |
probably damaging |
Het |
Tdrd12 |
G |
A |
7: 35,204,459 (GRCm39) |
S217L |
possibly damaging |
Het |
Tmem156 |
C |
T |
5: 65,237,525 (GRCm39) |
R45H |
probably benign |
Het |
Vmn2r90 |
T |
C |
17: 17,953,542 (GRCm39) |
S569P |
probably benign |
Het |
Vps13c |
T |
A |
9: 67,871,390 (GRCm39) |
V3220E |
probably damaging |
Het |
Wdr59 |
T |
C |
8: 112,208,565 (GRCm39) |
N439S |
possibly damaging |
Het |
Zfp568 |
A |
G |
7: 29,721,702 (GRCm39) |
M215V |
probably benign |
Het |
Zgrf1 |
T |
A |
3: 127,377,656 (GRCm39) |
V967E |
probably damaging |
Het |
Zkscan16 |
A |
G |
4: 58,956,483 (GRCm39) |
D255G |
possibly damaging |
Het |
|
Other mutations in Mpped1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
2013-10-07 |