Incidental Mutation 'IGL03051:Mpz'
| ID |
409043 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mpz
|
| Ensembl Gene |
ENSMUSG00000056569 |
| Gene Name |
myelin protein zero |
| Synonyms |
Mpp, P0 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.095)
|
| Stock # |
IGL03051
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
170978282-170988699 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 170986380 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 98
(R98H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106966
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070758]
[ENSMUST00000111334]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000070758
AA Change: R98H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000066701
Gene: ENSMUSG00000056569
AA Change: R98H
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
IGv
|
45 |
129 |
1.39e-11 |
SMART |
|
transmembrane domain
|
155 |
177 |
N/A |
INTRINSIC |
|
Pfam:Myelin-PO_C
|
184 |
248 |
4.3e-38 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111334
AA Change: R98H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106966
Gene: ENSMUSG00000056569
AA Change: R98H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
29 |
N/A |
INTRINSIC |
|
IGv
|
45 |
129 |
1.39e-11 |
SMART |
|
transmembrane domain
|
155 |
177 |
N/A |
INTRINSIC |
|
Pfam:Myelin-PO_C
|
179 |
248 |
4.8e-44 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125565
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149352
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene is specifically expressed in Schwann cells of the peripheral nervous system and encodes a type I transmembrane glycoprotein that is a major structural protein of the peripheral myelin sheath. The encoded protein contains a large hydrophobic extracellular domain and a smaller basic intracellular domain, which are essential for the formation and stabilization of the multilamellar structure of the compact myelin. Mutations in the orthologous gene in human are associated with myelinating neuropathies. A recent study showed that two isoforms are produced from the same mRNA by use of alternative in-frame translation termination codons via a stop codon readthrough mechanism. Alternatively spliced transcript variants have also been found for this gene. [provided by RefSeq, Oct 2015]
PHENOTYPE: Mice homozygous for a spontaneous mutation exhibit premature death, infertility, neurological behavior defects, and demyelination. Mice homozygous for a knock-out allele exhibit abnormal myelination and neurological behavior defects. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aak1 |
G |
T |
6: 86,964,283 (GRCm39) |
|
probably benign |
Het |
| Abhd14a |
A |
T |
9: 106,321,128 (GRCm39) |
F76I |
possibly damaging |
Het |
| Acvr1b |
A |
G |
15: 101,100,959 (GRCm39) |
R374G |
probably damaging |
Het |
| Akap13 |
T |
A |
7: 75,260,233 (GRCm39) |
C149* |
probably null |
Het |
| Appbp2 |
A |
T |
11: 85,082,565 (GRCm39) |
D555E |
possibly damaging |
Het |
| Arhgap25 |
T |
C |
6: 87,472,896 (GRCm39) |
Q87R |
probably null |
Het |
| Baz1b |
T |
A |
5: 135,246,079 (GRCm39) |
N509K |
probably benign |
Het |
| Ccn4 |
T |
A |
15: 66,778,399 (GRCm39) |
C73* |
probably null |
Het |
| Ces5a |
C |
A |
8: 94,255,226 (GRCm39) |
G156C |
probably damaging |
Het |
| Chtf18 |
G |
A |
17: 25,939,938 (GRCm39) |
R723W |
probably damaging |
Het |
| Clec4e |
A |
G |
6: 123,266,692 (GRCm39) |
S6P |
probably benign |
Het |
| Dennd4a |
A |
G |
9: 64,769,696 (GRCm39) |
I468V |
probably damaging |
Het |
| Epb41l4a |
A |
T |
18: 34,007,825 (GRCm39) |
Y233N |
probably damaging |
Het |
| Fam210b |
C |
T |
2: 172,194,612 (GRCm39) |
H155Y |
probably benign |
Het |
| Frmd4b |
A |
T |
6: 97,272,943 (GRCm39) |
C770* |
probably null |
Het |
| Gpa33 |
A |
G |
1: 165,992,790 (GRCm39) |
H301R |
probably benign |
Het |
| Gpr39 |
T |
A |
1: 125,605,485 (GRCm39) |
C138S |
probably damaging |
Het |
| Gtf2i |
T |
A |
5: 134,271,768 (GRCm39) |
K858* |
probably null |
Het |
| Ighv7-1 |
A |
T |
12: 113,860,576 (GRCm39) |
|
probably benign |
Het |
| Iglv1 |
T |
C |
16: 18,903,973 (GRCm39) |
T49A |
possibly damaging |
Het |
| Kif17 |
A |
C |
4: 138,016,565 (GRCm39) |
D416A |
probably damaging |
Het |
| Mib2 |
T |
C |
4: 155,741,747 (GRCm39) |
T431A |
probably damaging |
Het |
| Naa16 |
T |
C |
14: 79,606,522 (GRCm39) |
E337G |
probably benign |
Het |
| Odam |
G |
A |
5: 88,040,335 (GRCm39) |
|
probably benign |
Het |
| Or1e1f |
T |
A |
11: 73,855,860 (GRCm39) |
L142H |
probably benign |
Het |
| Parp2 |
T |
C |
14: 51,056,805 (GRCm39) |
|
probably benign |
Het |
| Pcdh7 |
T |
G |
5: 58,286,415 (GRCm39) |
S1164A |
probably damaging |
Het |
| Pkp4 |
G |
T |
2: 59,142,106 (GRCm39) |
A470S |
probably benign |
Het |
| Plin4 |
A |
T |
17: 56,412,417 (GRCm39) |
M538K |
possibly damaging |
Het |
| Prex2 |
T |
C |
1: 11,212,889 (GRCm39) |
V624A |
probably damaging |
Het |
| Rps6ka5 |
A |
C |
12: 100,582,250 (GRCm39) |
|
probably null |
Het |
| Simc1 |
T |
C |
13: 54,674,036 (GRCm39) |
S795P |
probably benign |
Het |
| Slc35b4 |
A |
T |
6: 34,137,406 (GRCm39) |
|
probably null |
Het |
| Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
| Syt14 |
T |
C |
1: 192,615,528 (GRCm39) |
N486S |
probably benign |
Het |
| Trim59 |
T |
C |
3: 68,944,206 (GRCm39) |
N378S |
probably benign |
Het |
| Wdr17 |
T |
A |
8: 55,104,349 (GRCm39) |
D908V |
probably damaging |
Het |
| Wdr74 |
A |
G |
19: 8,716,875 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Mpz |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00568:Mpz
|
APN |
1 |
170,987,571 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
Half-pint
|
UTSW |
1 |
170,987,204 (GRCm39) |
critical splice donor site |
probably null |
|
|
taz
|
UTSW |
1 |
170,986,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0279:Mpz
|
UTSW |
1 |
170,987,498 (GRCm39) |
splice site |
probably benign |
|
|
R0791:Mpz
|
UTSW |
1 |
170,986,343 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1164:Mpz
|
UTSW |
1 |
170,986,008 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1368:Mpz
|
UTSW |
1 |
170,987,533 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4043:Mpz
|
UTSW |
1 |
170,987,340 (GRCm39) |
splice site |
probably benign |
|
|
R4857:Mpz
|
UTSW |
1 |
170,986,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5682:Mpz
|
UTSW |
1 |
170,986,463 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R6709:Mpz
|
UTSW |
1 |
170,978,301 (GRCm39) |
unclassified |
probably benign |
|
|
R7089:Mpz
|
UTSW |
1 |
170,987,204 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7748:Mpz
|
UTSW |
1 |
170,987,509 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7888:Mpz
|
UTSW |
1 |
170,987,204 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8023:Mpz
|
UTSW |
1 |
170,987,602 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation