Incidental Mutation 'IGL01594:Mpzl1'
| ID |
91672 |
| 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 # |
IGL01594
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
165419809-165462107 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 165421161 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 266
(D266G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107062
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068705]
[ENSMUST00000111435]
[ENSMUST00000191818]
[ENSMUST00000193023]
[ENSMUST00000194437]
|
| AlphaFold |
Q3TEW6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068705
|
| SMART Domains |
Protein: ENSMUSP00000070343
Gene: ENSMUSG00000026566
| 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 damaging
Transcript: ENSMUST00000111435
AA Change: D266G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107062
Gene: ENSMUSG00000026566
AA Change: D266G
| 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
|
| SMART Domains |
Protein: ENSMUSP00000141361
Gene: ENSMUSG00000026566
| Domain | Start | End | E-Value | Type |
|---|
|
IGv
|
27 |
111 |
5.3e-13 |
SMART |
|
transmembrane domain
|
134 |
165 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193023
|
| SMART Domains |
Protein: ENSMUSP00000141463
Gene: ENSMUSG00000026566
| 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 |
probably benign
Transcript: ENSMUST00000193948
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000194437
AA Change: D115G
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000142164
Gene: ENSMUSG00000026566
AA Change: D115G
| 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: ENSMUST00000195410
|
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
A |
T |
5: 8,996,071 (GRCm39) |
|
probably null |
Het |
| Acss1 |
A |
T |
2: 150,463,450 (GRCm39) |
V618E |
probably damaging |
Het |
| Adgrg6 |
T |
C |
10: 14,310,084 (GRCm39) |
N774D |
probably damaging |
Het |
| Atp9a |
A |
G |
2: 168,532,932 (GRCm39) |
V134A |
probably damaging |
Het |
| Csmd3 |
T |
A |
15: 47,492,635 (GRCm39) |
T3169S |
probably benign |
Het |
| D030068K23Rik |
T |
A |
8: 109,978,009 (GRCm39) |
Q52L |
unknown |
Het |
| Dnah5 |
T |
C |
15: 28,311,480 (GRCm39) |
S1820P |
possibly damaging |
Het |
| Fem1c |
A |
C |
18: 46,639,343 (GRCm39) |
S220A |
probably benign |
Het |
| Gm10305 |
G |
A |
4: 99,161,414 (GRCm39) |
D108N |
unknown |
Het |
| Gtdc1 |
A |
G |
2: 44,481,891 (GRCm39) |
|
probably null |
Het |
| Il2ra |
T |
C |
2: 11,685,207 (GRCm39) |
V181A |
possibly damaging |
Het |
| Lrrn1 |
T |
C |
6: 107,544,454 (GRCm39) |
I84T |
probably damaging |
Het |
| Map3k1 |
T |
A |
13: 111,894,723 (GRCm39) |
|
probably null |
Het |
| Mical1 |
T |
G |
10: 41,356,325 (GRCm39) |
Y293D |
probably damaging |
Het |
| Or55b4 |
C |
A |
7: 102,134,254 (GRCm39) |
M24I |
probably benign |
Het |
| Pabpc4l |
A |
T |
3: 46,401,581 (GRCm39) |
V21D |
probably damaging |
Het |
| Prdm10 |
T |
C |
9: 31,258,149 (GRCm39) |
C525R |
probably damaging |
Het |
| Ptprj |
C |
A |
2: 90,271,139 (GRCm39) |
|
probably benign |
Het |
| Rgs3 |
T |
C |
4: 62,537,981 (GRCm39) |
F4S |
probably damaging |
Het |
| Ryr3 |
G |
A |
2: 112,603,073 (GRCm39) |
T2457I |
probably damaging |
Het |
| Scn3a |
A |
G |
2: 65,291,775 (GRCm39) |
I1657T |
probably damaging |
Het |
| Sema6a |
A |
G |
18: 47,381,884 (GRCm39) |
S888P |
probably damaging |
Het |
| Slc37a1 |
T |
A |
17: 31,538,122 (GRCm39) |
Y148* |
probably null |
Het |
| Tex10 |
T |
C |
4: 48,469,906 (GRCm39) |
N53S |
possibly damaging |
Het |
| Tyr |
A |
T |
7: 87,133,022 (GRCm39) |
|
probably benign |
Het |
| Vmn2r100 |
A |
G |
17: 19,751,495 (GRCm39) |
S513G |
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 |
|
IGL01388:Mpzl1
|
APN |
1 |
165,433,336 (GRCm39) |
missense |
probably benign |
0.44 |
|
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 |
2013-12-09 |
Incidental Mutation