Incidental Mutation 'IGL01388:Mpzl1'
| ID |
79126 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mpzl1
|
| Ensembl Gene |
ENSMUSG00000026566 |
| Gene Name |
myelin protein zero-like 1 |
| Synonyms |
1110007A10Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01388
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
165419809-165462107 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 165433336 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 105
(D105G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107062
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068705]
[ENSMUST00000111435]
[ENSMUST00000191818]
[ENSMUST00000193023]
[ENSMUST00000194437]
[ENSMUST00000193910]
|
| AlphaFold |
Q3TEW6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068705
AA Change: D105G
PolyPhen 2
Score 0.239 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000070343
Gene: ENSMUSG00000026566
AA Change: D105G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
15 |
N/A |
INTRINSIC |
|
IGv
|
53 |
137 |
1.28e-10 |
SMART |
|
transmembrane domain
|
162 |
191 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111435
AA Change: D105G
PolyPhen 2
Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000107062
Gene: ENSMUSG00000026566
AA Change: D105G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
37 |
N/A |
INTRINSIC |
|
IGv
|
53 |
137 |
1.28e-10 |
SMART |
|
transmembrane domain
|
162 |
191 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000191818
AA Change: D79G
PolyPhen 2
Score 0.239 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000141361
Gene: ENSMUSG00000026566
AA Change: D79G
| Domain | Start | End | E-Value | Type |
|---|
|
IGv
|
27 |
111 |
5.3e-13 |
SMART |
|
transmembrane domain
|
134 |
165 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192716
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192848
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193023
AA Change: D105G
PolyPhen 2
Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000141463
Gene: ENSMUSG00000026566
AA Change: D105G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
37 |
N/A |
INTRINSIC |
|
IGv
|
53 |
137 |
5.3e-13 |
SMART |
|
transmembrane domain
|
162 |
191 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193172
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000195410
AA Change: D49G
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000193948
AA Change: D10G
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194829
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194437
|
| SMART Domains |
Protein: ENSMUSP00000142164
Gene: ENSMUSG00000026566
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
37 |
N/A |
INTRINSIC |
|
Blast:IGv
|
53 |
86 |
2e-16 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193910
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Phenotypic analysis of mice homozygous for a gene trap allele indicates this mutation has no notable phenotype in any parameter tested. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap28 |
T |
G |
17: 68,160,034 (GRCm39) |
|
probably benign |
Het |
| Ces2b |
A |
C |
8: 105,561,236 (GRCm39) |
|
probably benign |
Het |
| Col20a1 |
T |
A |
2: 180,645,264 (GRCm39) |
M924K |
probably benign |
Het |
| Commd4 |
G |
A |
9: 57,063,273 (GRCm39) |
|
probably benign |
Het |
| Ctnna3 |
A |
G |
10: 63,339,886 (GRCm39) |
E24G |
possibly damaging |
Het |
| Cyp2a22 |
C |
T |
7: 26,637,217 (GRCm39) |
R189H |
probably benign |
Het |
| Gapdhrt |
T |
C |
14: 11,281,836 (GRCm38) |
D33G |
probably damaging |
Het |
| Gm20426 |
T |
C |
6: 90,155,694 (GRCm39) |
|
probably benign |
Het |
| Gm6802 |
T |
G |
12: 19,540,546 (GRCm39) |
|
noncoding transcript |
Het |
| Igkv8-21 |
A |
G |
6: 70,292,153 (GRCm39) |
S30P |
probably benign |
Het |
| Lig4 |
A |
G |
8: 10,023,586 (GRCm39) |
Y65H |
probably damaging |
Het |
| Myo10 |
A |
G |
15: 25,736,703 (GRCm39) |
I451V |
possibly damaging |
Het |
| Nos2 |
G |
T |
11: 78,848,278 (GRCm39) |
V1062L |
probably damaging |
Het |
| Oas2 |
A |
G |
5: 120,886,657 (GRCm39) |
S170P |
probably damaging |
Het |
| Or1j19 |
G |
T |
2: 36,677,367 (GRCm39) |
V277L |
probably benign |
Het |
| Or5w11 |
T |
A |
2: 87,458,973 (GRCm39) |
H55Q |
probably benign |
Het |
| Or8b3b |
A |
T |
9: 38,584,379 (GRCm39) |
Y120* |
probably null |
Het |
| Or8g37 |
A |
G |
9: 39,731,298 (GRCm39) |
D121G |
probably damaging |
Het |
| Pcdh7 |
T |
C |
5: 57,877,546 (GRCm39) |
L367P |
probably damaging |
Het |
| Pde3a |
A |
G |
6: 141,405,464 (GRCm39) |
T439A |
probably damaging |
Het |
| Plekhm2 |
T |
C |
4: 141,369,312 (GRCm39) |
Y124C |
probably damaging |
Het |
| Ppp4r4 |
T |
A |
12: 103,543,108 (GRCm39) |
W155R |
probably damaging |
Het |
| Prl7c1 |
C |
A |
13: 27,960,198 (GRCm39) |
A115S |
probably damaging |
Het |
| Psg25 |
T |
C |
7: 18,263,590 (GRCm39) |
I78V |
possibly damaging |
Het |
| Ptpn9 |
T |
A |
9: 56,944,002 (GRCm39) |
V292E |
probably benign |
Het |
| Ptprs |
G |
A |
17: 56,728,261 (GRCm39) |
R908C |
probably damaging |
Het |
| Rps6ka1 |
C |
T |
4: 133,599,275 (GRCm39) |
V51I |
probably damaging |
Het |
| Scube1 |
T |
C |
15: 83,504,332 (GRCm39) |
I492V |
probably benign |
Het |
| Trappc2 |
G |
A |
X: 165,232,775 (GRCm39) |
|
probably benign |
Het |
| Ubr4 |
T |
C |
4: 139,187,554 (GRCm39) |
V739A |
possibly damaging |
Het |
| Unc79 |
T |
C |
12: 103,136,018 (GRCm39) |
|
probably benign |
Het |
| Vmn2r27 |
G |
A |
6: 124,200,791 (GRCm39) |
P389S |
possibly damaging |
Het |
| Wipi2 |
T |
A |
5: 142,646,798 (GRCm39) |
F212I |
possibly damaging |
Het |
|
| Other mutations in Mpzl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00951:Mpzl1
|
APN |
1 |
165,433,391 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01294:Mpzl1
|
APN |
1 |
165,421,177 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01594:Mpzl1
|
APN |
1 |
165,421,161 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0517:Mpzl1
|
UTSW |
1 |
165,429,359 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1913:Mpzl1
|
UTSW |
1 |
165,429,374 (GRCm39) |
missense |
probably benign |
|
|
R4352:Mpzl1
|
UTSW |
1 |
165,433,376 (GRCm39) |
nonsense |
probably null |
|
|
R4997:Mpzl1
|
UTSW |
1 |
165,429,350 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5097:Mpzl1
|
UTSW |
1 |
165,433,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5733:Mpzl1
|
UTSW |
1 |
165,433,180 (GRCm39) |
missense |
probably benign |
|
|
R7084:Mpzl1
|
UTSW |
1 |
165,432,267 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7480:Mpzl1
|
UTSW |
1 |
165,432,257 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R9381:Mpzl1
|
UTSW |
1 |
165,429,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9571:Mpzl1
|
UTSW |
1 |
165,429,374 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0065:Mpzl1
|
UTSW |
1 |
165,432,215 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2013-11-05 |
Incidental Mutation