Incidental Mutation 'R5733:Mpzl1'
| ID |
501398 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mpzl1
|
| Ensembl Gene |
ENSMUSG00000026566 |
| Gene Name |
myelin protein zero-like 1 |
| Synonyms |
1110007A10Rik |
| MMRRC Submission |
043193-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5733 (G1)
|
| Quality Score |
203 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
165419809-165462107 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 165433180 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 157
(I157K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141463
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068705]
[ENSMUST00000111435]
[ENSMUST00000191818]
[ENSMUST00000193023]
[ENSMUST00000193910]
[ENSMUST00000194437]
|
| AlphaFold |
Q3TEW6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068705
AA Change: I157K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000070343
Gene: ENSMUSG00000026566
AA Change: I157K
| 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: I157K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000107062
Gene: ENSMUSG00000026566
AA Change: I157K
| 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: I131K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000141361
Gene: ENSMUSG00000026566
AA Change: I131K
| 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: I157K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000141463
Gene: ENSMUSG00000026566
AA Change: I157K
| 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: ENSMUST00000193948
AA Change: I62K
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000195410
AA Change: I101K
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 97.0%
- 20x: 95.0%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox3 |
T |
A |
5: 35,762,543 (GRCm39) |
|
probably null |
Het |
| Ahnak2 |
A |
T |
12: 112,742,100 (GRCm39) |
Y657* |
probably null |
Het |
| Anxa3 |
T |
A |
5: 96,968,331 (GRCm39) |
I128N |
probably damaging |
Het |
| Bsnd |
T |
C |
4: 106,345,198 (GRCm39) |
T83A |
probably benign |
Het |
| Capn10 |
A |
G |
1: 92,871,635 (GRCm39) |
Y411C |
probably benign |
Het |
| Capn3 |
G |
A |
2: 120,315,075 (GRCm39) |
W201* |
probably null |
Het |
| Crtap |
T |
C |
9: 114,207,164 (GRCm39) |
T365A |
probably benign |
Het |
| Daam1 |
A |
G |
12: 71,992,272 (GRCm39) |
D329G |
unknown |
Het |
| Dmxl2 |
A |
T |
9: 54,283,550 (GRCm39) |
L2761Q |
possibly damaging |
Het |
| Fcho2 |
A |
C |
13: 98,926,310 (GRCm39) |
V91G |
probably damaging |
Het |
| Fen1 |
A |
T |
19: 10,178,022 (GRCm39) |
C141S |
possibly damaging |
Het |
| Fkbp15 |
G |
C |
4: 62,225,166 (GRCm39) |
A831G |
probably benign |
Het |
| Frmd4a |
A |
T |
2: 4,305,768 (GRCm39) |
R14S |
possibly damaging |
Het |
| Fzr1 |
A |
G |
10: 81,206,160 (GRCm39) |
F176L |
possibly damaging |
Het |
| Garem2 |
A |
G |
5: 30,321,336 (GRCm39) |
D565G |
probably damaging |
Het |
| Garre1 |
A |
T |
7: 33,944,505 (GRCm39) |
S76T |
probably damaging |
Het |
| Iqca1 |
G |
T |
1: 89,998,257 (GRCm39) |
T549K |
probably damaging |
Het |
| Itgax |
T |
A |
7: 127,739,647 (GRCm39) |
S686R |
probably damaging |
Het |
| Knop1 |
C |
A |
7: 118,445,305 (GRCm39) |
G220C |
probably damaging |
Het |
| Lyzl1 |
T |
A |
18: 4,169,142 (GRCm39) |
C49S |
probably damaging |
Het |
| Mrgprb2 |
T |
C |
7: 48,202,261 (GRCm39) |
I155V |
probably benign |
Het |
| Mucl3 |
T |
C |
17: 35,949,102 (GRCm39) |
M166V |
probably benign |
Het |
| Mvb12b |
T |
C |
2: 33,717,728 (GRCm39) |
T167A |
probably benign |
Het |
| Myh3 |
A |
G |
11: 66,979,445 (GRCm39) |
N491S |
probably benign |
Het |
| Myo5b |
A |
G |
18: 74,787,128 (GRCm39) |
D511G |
possibly damaging |
Het |
| Or10ak8 |
C |
T |
4: 118,774,035 (GRCm39) |
V210I |
probably benign |
Het |
| Or11h4 |
T |
C |
14: 50,974,509 (GRCm39) |
T37A |
probably benign |
Het |
| Or6b1 |
C |
T |
6: 42,815,180 (GRCm39) |
R122C |
probably damaging |
Het |
| Or8k21 |
T |
G |
2: 86,145,558 (GRCm39) |
Q24P |
probably damaging |
Het |
| Ptcd1 |
A |
G |
5: 145,091,671 (GRCm39) |
M476T |
probably damaging |
Het |
| Pum3 |
A |
G |
19: 27,398,695 (GRCm39) |
|
probably null |
Het |
| Ranbp2 |
G |
A |
10: 58,321,658 (GRCm39) |
D2652N |
probably damaging |
Het |
| Rassf1 |
T |
C |
9: 107,435,213 (GRCm39) |
V166A |
probably damaging |
Het |
| Rictor |
A |
G |
15: 6,812,585 (GRCm39) |
H907R |
probably benign |
Het |
| Rorb |
T |
C |
19: 18,965,471 (GRCm39) |
E6G |
probably damaging |
Het |
| Serpina3f |
A |
T |
12: 104,183,182 (GRCm39) |
T15S |
possibly damaging |
Het |
| Sorbs2 |
T |
C |
8: 46,212,226 (GRCm39) |
L100P |
probably damaging |
Het |
| Sprr2k |
T |
C |
3: 92,340,655 (GRCm39) |
|
probably benign |
Het |
| Srrm2 |
T |
A |
17: 24,040,360 (GRCm39) |
S2431T |
probably damaging |
Het |
| Stox2 |
T |
A |
8: 47,866,172 (GRCm39) |
K57* |
probably null |
Het |
| Ttc21a |
G |
A |
9: 119,770,327 (GRCm39) |
V133I |
probably benign |
Het |
| Vasn |
T |
C |
16: 4,468,026 (GRCm39) |
Y658H |
possibly damaging |
Het |
| Zfp251 |
A |
G |
15: 76,754,527 (GRCm39) |
Y35H |
probably 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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCTGGAGTTTGAAACATCCATG -3'
(R):5'- TCACAAGGACAGGTGTACATTGG -3'
Sequencing Primer
(F):5'- CAAAGCAGAccatccatc -3'
(R):5'- ACAGGTGTACATTGGGGATTATCCAC -3'
|
| Posted On |
2017-12-01 |
Incidental Mutation