Incidental Mutation 'R4116:Mpped1'
ID |
314652 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mpped1
|
Ensembl Gene |
ENSMUSG00000041708 |
Gene Name |
metallophosphoesterase domain containing 1 |
Synonyms |
|
MMRRC Submission |
040859-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.134)
|
Stock # |
R4116 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
83663668-83742695 bp(+) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
A to G
at 83680910 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131333
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046168]
[ENSMUST00000109469]
[ENSMUST00000109470]
[ENSMUST00000123387]
[ENSMUST00000163723]
[ENSMUST00000172115]
[ENSMUST00000172398]
|
AlphaFold |
Q91ZG2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000046168
|
SMART Domains |
Protein: ENSMUSP00000041981 Gene: ENSMUSG00000041708
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 |
probably benign
Transcript: ENSMUST00000109470
|
SMART Domains |
Protein: ENSMUSP00000105096 Gene: ENSMUSG00000041708
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 |
unknown
Transcript: ENSMUST00000150489
AA Change: R43G
|
SMART Domains |
Protein: ENSMUSP00000128786 Gene: ENSMUSG00000041708 AA Change: R43G
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 benign
Transcript: ENSMUST00000171560
|
SMART Domains |
Protein: ENSMUSP00000125835 Gene: ENSMUSG00000041708
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 |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc10 |
A |
T |
17: 46,634,817 (GRCm39) |
F395L |
possibly damaging |
Het |
Amigo1 |
C |
T |
3: 108,095,761 (GRCm39) |
T420I |
probably damaging |
Het |
Ankrd34c |
A |
G |
9: 89,611,927 (GRCm39) |
L138P |
probably damaging |
Het |
Cald1 |
C |
T |
6: 34,722,654 (GRCm39) |
R107C |
probably damaging |
Het |
Cast |
C |
T |
13: 74,872,956 (GRCm39) |
E444K |
probably damaging |
Het |
Ccdc121rt2 |
A |
G |
5: 112,598,377 (GRCm39) |
E308G |
probably damaging |
Het |
Crybg1 |
T |
G |
10: 43,875,158 (GRCm39) |
N650T |
possibly damaging |
Het |
Cyp19a1 |
T |
A |
9: 54,076,025 (GRCm39) |
R276S |
possibly damaging |
Het |
Cyp2c66 |
A |
G |
19: 39,165,003 (GRCm39) |
D328G |
possibly damaging |
Het |
Hectd1 |
A |
T |
12: 51,815,506 (GRCm39) |
L1527* |
probably null |
Het |
Hoxd13 |
C |
A |
2: 74,498,832 (GRCm39) |
A60E |
possibly damaging |
Het |
Igkv3-7 |
G |
T |
6: 70,584,923 (GRCm39) |
G88C |
probably damaging |
Het |
Kcnk12 |
GGCATCGC |
GGCATCGCATCGC |
17: 88,053,584 (GRCm39) |
|
probably null |
Het |
Klhl30 |
C |
A |
1: 91,281,830 (GRCm39) |
Q144K |
probably benign |
Het |
Kprp |
A |
T |
3: 92,731,275 (GRCm39) |
S592T |
probably damaging |
Het |
Man2c1 |
T |
C |
9: 57,047,589 (GRCm39) |
|
probably null |
Het |
Mbtps1 |
A |
T |
8: 120,268,391 (GRCm39) |
M260K |
probably benign |
Het |
Morc3 |
G |
A |
16: 93,670,227 (GRCm39) |
D801N |
probably benign |
Het |
Mtcl1 |
T |
C |
17: 66,673,476 (GRCm39) |
T767A |
probably benign |
Het |
Nek5 |
G |
A |
8: 22,601,178 (GRCm39) |
T181M |
probably damaging |
Het |
Nomo1 |
T |
C |
7: 45,683,320 (GRCm39) |
I22T |
probably benign |
Het |
Or7g27 |
T |
G |
9: 19,249,940 (GRCm39) |
F61L |
probably benign |
Het |
Plin4 |
A |
G |
17: 56,409,113 (GRCm39) |
V1369A |
probably benign |
Het |
Polr3c |
A |
T |
3: 96,622,560 (GRCm39) |
F365Y |
probably damaging |
Het |
Sec22a |
A |
G |
16: 35,139,202 (GRCm39) |
F232S |
probably damaging |
Het |
Sema4f |
G |
A |
6: 82,894,887 (GRCm39) |
T436M |
probably benign |
Het |
Sf3a2 |
A |
G |
10: 80,637,175 (GRCm39) |
T37A |
probably damaging |
Het |
Slc1a6 |
A |
G |
10: 78,623,723 (GRCm39) |
M41V |
probably benign |
Het |
Sptbn4 |
C |
T |
7: 27,090,995 (GRCm39) |
E1399K |
probably damaging |
Het |
Sspo |
T |
C |
6: 48,433,928 (GRCm39) |
L911P |
probably damaging |
Het |
Sult2a2 |
A |
T |
7: 13,468,708 (GRCm39) |
Q58L |
probably benign |
Het |
Syne2 |
A |
T |
12: 75,977,853 (GRCm39) |
I1433F |
probably damaging |
Het |
Synm |
C |
T |
7: 67,384,405 (GRCm39) |
V644I |
possibly damaging |
Het |
Tbc1d5 |
A |
G |
17: 51,227,615 (GRCm39) |
L210P |
probably damaging |
Het |
Trak1 |
T |
C |
9: 121,277,909 (GRCm39) |
Y229H |
probably damaging |
Het |
Unc5b |
G |
T |
10: 60,610,479 (GRCm39) |
T446K |
probably damaging |
Het |
Wdr95 |
C |
A |
5: 149,521,040 (GRCm39) |
D604E |
probably benign |
Het |
Zfp773 |
AGCTGCTGCTGCTGCTGCTGCTGCTGC |
AGCTGCTGCTGCTGCTGCTGCTGC |
7: 7,136,092 (GRCm39) |
|
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 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCAGAGCTACAGCATGGAGG -3'
(R):5'- GCATAGACTGAGCAGTGTCTC -3'
Sequencing Primer
(F):5'- AGAGTGTGCCATCCCAGCTG -3'
(R):5'- TCAGGGAGAGGCTACTTCAC -3'
|
Posted On |
2015-05-14 |