Incidental Mutation 'R5189:Mpzl3'
| ID |
405062 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mpzl3
|
| Ensembl Gene |
ENSMUSG00000070305 |
| Gene Name |
myelin protein zero-like 3 |
| Synonyms |
rc, 5430427F17Rik, ruf, A530065I17Rik |
| MMRRC Submission |
042767-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R5189 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
44966484-44988734 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 44973408 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 49
(I49T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110311
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114663]
[ENSMUST00000114664]
|
| AlphaFold |
Q3V3F6 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000093856
|
| SMART Domains |
Protein: ENSMUSP00000091378
Gene: ENSMUSG00000070305
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
|
Blast:IG
|
38 |
82 |
5e-25 |
BLAST |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000114663
AA Change: I49T
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000110311
Gene: ENSMUSG00000070305
AA Change: I49T
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
38 |
149 |
3.35e-5 |
SMART |
|
Blast:IG_like
|
150 |
230 |
6e-26 |
BLAST |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000114664
AA Change: I49T
PolyPhen 2
Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000110312
Gene: ENSMUSG00000070305
AA Change: I49T
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
|
IG
|
38 |
149 |
3.35e-5 |
SMART |
|
Blast:IG_like
|
150 |
229 |
3e-25 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187113
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a spontaneous allele have a rough coat that becomes brittle and oily with age, and display stunted growth, cyclic and progressive hair loss, hyperplastic epidermis, abnormal hair follicles, myocardial degeneration, and reduced collagen and elastin content in the skin and heart. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 2700049A03Rik |
C |
T |
12: 71,240,123 (GRCm39) |
T1311I |
possibly damaging |
Het |
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| 4930505A04Rik |
T |
C |
11: 30,376,169 (GRCm39) |
T233A |
probably damaging |
Het |
| Ankar |
T |
C |
1: 72,697,573 (GRCm39) |
I859V |
probably benign |
Het |
| Cacnb2 |
G |
T |
2: 14,990,849 (GRCm39) |
A644S |
possibly damaging |
Het |
| Gatb |
T |
C |
3: 85,544,238 (GRCm39) |
V402A |
probably benign |
Het |
| Gpcpd1 |
T |
C |
2: 132,395,892 (GRCm39) |
K153R |
probably damaging |
Het |
| Hip1 |
A |
G |
5: 135,463,147 (GRCm39) |
L60S |
probably damaging |
Het |
| Hsf4 |
GCAGCACCGGGTCA |
G |
8: 105,998,060 (GRCm39) |
|
probably null |
Het |
| Hydin |
A |
T |
8: 111,139,843 (GRCm39) |
|
probably null |
Het |
| Igsf3 |
A |
T |
3: 101,338,843 (GRCm39) |
T386S |
possibly damaging |
Het |
| Il12rb1 |
A |
G |
8: 71,263,702 (GRCm39) |
T88A |
possibly damaging |
Het |
| Kank1 |
T |
C |
19: 25,401,545 (GRCm39) |
S1051P |
probably damaging |
Het |
| Kap |
A |
G |
6: 133,828,879 (GRCm39) |
|
probably null |
Het |
| Ly96 |
A |
G |
1: 16,771,091 (GRCm39) |
E74G |
probably damaging |
Het |
| Map7d1 |
G |
T |
4: 126,136,097 (GRCm39) |
|
probably null |
Het |
| Megf6 |
G |
T |
4: 154,336,980 (GRCm39) |
R253L |
probably benign |
Het |
| Mex3b |
A |
G |
7: 82,518,459 (GRCm39) |
D258G |
probably damaging |
Het |
| Myh15 |
C |
A |
16: 48,921,870 (GRCm39) |
T472N |
probably benign |
Het |
| Nacad |
A |
G |
11: 6,551,611 (GRCm39) |
S527P |
probably damaging |
Het |
| Nkx2-3 |
T |
G |
19: 43,601,147 (GRCm39) |
S70A |
probably benign |
Het |
| Nkx2-6 |
A |
T |
14: 69,409,342 (GRCm39) |
Q31L |
probably benign |
Het |
| Or6ae1 |
A |
G |
7: 139,742,632 (GRCm39) |
V77A |
probably damaging |
Het |
| Pcdha6 |
A |
T |
18: 37,101,844 (GRCm39) |
N346Y |
probably damaging |
Het |
| Pkd2 |
G |
A |
5: 104,607,785 (GRCm39) |
D95N |
probably benign |
Het |
| Pkhd1l1 |
A |
G |
15: 44,410,544 (GRCm39) |
T2684A |
probably damaging |
Het |
| Plin2 |
A |
G |
4: 86,575,383 (GRCm39) |
Y389H |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Slc41a2 |
T |
C |
10: 83,149,275 (GRCm39) |
|
probably null |
Het |
| Smg6 |
A |
G |
11: 74,932,822 (GRCm39) |
T1038A |
probably damaging |
Het |
| Suds3 |
T |
C |
5: 117,238,664 (GRCm39) |
|
probably benign |
Het |
| Tbc1d8 |
T |
C |
1: 39,424,213 (GRCm39) |
H626R |
probably benign |
Het |
| Tmem260 |
T |
A |
14: 48,746,573 (GRCm39) |
H616Q |
probably benign |
Het |
| Trip10 |
A |
T |
17: 57,568,288 (GRCm39) |
|
probably null |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Ubr4 |
A |
G |
4: 139,137,960 (GRCm39) |
T1106A |
probably benign |
Het |
| Vmn1r84 |
A |
T |
7: 12,096,385 (GRCm39) |
S103T |
probably benign |
Het |
| Vps13a |
G |
T |
19: 16,662,679 (GRCm39) |
P1602Q |
probably damaging |
Het |
|
| Other mutations in Mpzl3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02420:Mpzl3
|
APN |
9 |
44,977,815 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02969:Mpzl3
|
APN |
9 |
44,979,514 (GRCm39) |
missense |
probably benign |
0.00 |
|
mausolus
|
UTSW |
9 |
44,979,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
satrap
|
UTSW |
9 |
44,966,542 (GRCm39) |
start codon destroyed |
probably null |
0.06 |
|
R0069:Mpzl3
|
UTSW |
9 |
44,979,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0196:Mpzl3
|
UTSW |
9 |
44,973,458 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0557:Mpzl3
|
UTSW |
9 |
44,977,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1511:Mpzl3
|
UTSW |
9 |
44,977,827 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4580:Mpzl3
|
UTSW |
9 |
44,979,529 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4775:Mpzl3
|
UTSW |
9 |
44,977,730 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4825:Mpzl3
|
UTSW |
9 |
44,979,627 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4972:Mpzl3
|
UTSW |
9 |
44,973,554 (GRCm39) |
intron |
probably benign |
|
|
R5371:Mpzl3
|
UTSW |
9 |
44,966,510 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R5925:Mpzl3
|
UTSW |
9 |
44,973,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7191:Mpzl3
|
UTSW |
9 |
44,966,542 (GRCm39) |
start codon destroyed |
probably null |
0.06 |
|
R7561:Mpzl3
|
UTSW |
9 |
44,966,610 (GRCm39) |
missense |
probably benign |
|
|
R7570:Mpzl3
|
UTSW |
9 |
44,981,985 (GRCm39) |
missense |
probably benign |
|
|
R9057:Mpzl3
|
UTSW |
9 |
44,979,592 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9101:Mpzl3
|
UTSW |
9 |
44,981,983 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R9400:Mpzl3
|
UTSW |
9 |
44,986,077 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R9579:Mpzl3
|
UTSW |
9 |
44,973,350 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGGTGAGATCACTGAAAATGGTG -3'
(R):5'- ACAGCAGGTGACTTTACCCC -3'
Sequencing Primer
(F):5'- CTGAAAATGGTGTGAAGCATCTCTC -3'
(R):5'- AGGAATGGCCTCGATTTCC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation