Incidental Mutation 'IGL00951:Mpzl1'
| ID |
26692 |
| 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 # |
IGL00951
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
165419809-165462107 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 165433391 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 87
(F87L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107062
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068705]
[ENSMUST00000111435]
[ENSMUST00000191818]
[ENSMUST00000193023]
[ENSMUST00000193910]
[ENSMUST00000194437]
|
| AlphaFold |
Q3TEW6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000068705
AA Change: F87L
PolyPhen 2
Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000070343
Gene: ENSMUSG00000026566
AA Change: F87L
| 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: F87L
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000107062
Gene: ENSMUSG00000026566
AA Change: F87L
| 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 |
possibly damaging
Transcript: ENSMUST00000191818
AA Change: F61L
PolyPhen 2
Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000141361
Gene: ENSMUSG00000026566
AA Change: F61L
| 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 damaging
Transcript: ENSMUST00000193023
AA Change: F87L
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000141463
Gene: ENSMUSG00000026566
AA Change: F87L
| 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 |
noncoding transcript
Transcript: ENSMUST00000194829
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000195410
AA Change: F31L
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193910
|
| 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: ENSMUST00000193948
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Armc8 |
C |
A |
9: 99,387,757 (GRCm39) |
R388L |
probably benign |
Het |
| Bcan |
T |
C |
3: 87,901,481 (GRCm39) |
E407G |
probably damaging |
Het |
| Brms1l |
A |
G |
12: 55,912,834 (GRCm39) |
I276V |
possibly damaging |
Het |
| Brpf1 |
C |
A |
6: 113,299,514 (GRCm39) |
D1182E |
probably damaging |
Het |
| Clpb |
A |
G |
7: 101,400,467 (GRCm39) |
M268V |
probably benign |
Het |
| Cpne8 |
A |
T |
15: 90,486,096 (GRCm39) |
|
probably benign |
Het |
| Ddx25 |
A |
T |
9: 35,464,131 (GRCm39) |
|
probably null |
Het |
| Dgki |
A |
G |
6: 36,977,094 (GRCm39) |
M672T |
probably damaging |
Het |
| Fhdc1 |
T |
C |
3: 84,371,620 (GRCm39) |
T112A |
possibly damaging |
Het |
| Galnt7 |
A |
T |
8: 58,036,858 (GRCm39) |
M177K |
probably damaging |
Het |
| Gucy1a1 |
T |
C |
3: 82,018,498 (GRCm39) |
D113G |
probably benign |
Het |
| Hp |
T |
C |
8: 110,304,129 (GRCm39) |
D24G |
possibly damaging |
Het |
| Jak2 |
A |
G |
19: 29,276,983 (GRCm39) |
R847G |
probably damaging |
Het |
| Lama2 |
A |
T |
10: 26,906,281 (GRCm39) |
D2391E |
probably benign |
Het |
| Ms4a4d |
A |
T |
19: 11,532,285 (GRCm39) |
I144F |
probably benign |
Het |
| Or5h18 |
G |
A |
16: 58,848,216 (GRCm39) |
T18I |
probably benign |
Het |
| Or5h23 |
A |
C |
16: 58,906,756 (GRCm39) |
L30R |
possibly damaging |
Het |
| Or5i1 |
A |
T |
2: 87,612,883 (GRCm39) |
I2F |
probably benign |
Het |
| Or6c219 |
A |
G |
10: 129,781,581 (GRCm39) |
S2P |
probably damaging |
Het |
| Or6d14 |
G |
A |
6: 116,534,027 (GRCm39) |
V214I |
probably benign |
Het |
| Prr16 |
A |
G |
18: 51,436,411 (GRCm39) |
R297G |
probably damaging |
Het |
| Ralgps1 |
A |
C |
2: 33,163,614 (GRCm39) |
L148V |
probably damaging |
Het |
| Rara |
A |
G |
11: 98,858,992 (GRCm39) |
D150G |
probably benign |
Het |
| Rb1 |
A |
T |
14: 73,559,512 (GRCm39) |
V64D |
probably damaging |
Het |
| Ros1 |
A |
G |
10: 52,019,348 (GRCm39) |
Y742H |
probably damaging |
Het |
| Rpl7a |
A |
G |
2: 26,802,441 (GRCm39) |
D160G |
possibly damaging |
Het |
| Sdccag8 |
A |
G |
1: 176,705,568 (GRCm39) |
M461V |
possibly damaging |
Het |
| Tagln |
T |
A |
9: 45,842,170 (GRCm39) |
N141I |
probably benign |
Het |
| Tas2r140 |
A |
T |
6: 40,468,913 (GRCm39) |
R248* |
probably null |
Het |
| Ube2j2 |
C |
T |
4: 156,030,834 (GRCm39) |
|
probably benign |
Het |
| Ulk1 |
A |
G |
5: 110,940,270 (GRCm39) |
C384R |
possibly damaging |
Het |
| Ush2a |
A |
T |
1: 187,995,662 (GRCm39) |
E144D |
probably benign |
Het |
| Vkorc1l1 |
C |
T |
5: 130,011,108 (GRCm39) |
T144I |
probably benign |
Het |
| Zfp235 |
T |
C |
7: 23,836,505 (GRCm39) |
F17S |
probably damaging |
Het |
|
| Other mutations in Mpzl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2013-04-17 |
Incidental Mutation