Incidental Mutation 'R0069:Mpzl3'
| ID |
33108 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mpzl3
|
| Ensembl Gene |
ENSMUSG00000070305 |
| Gene Name |
myelin protein zero-like 3 |
| Synonyms |
rc, 5430427F17Rik, ruf, A530065I17Rik |
| MMRRC Submission |
038360-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R0069 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
9 |
| Chromosomal Location |
44966484-44988734 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 44979550 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 167
(V167A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110312
(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 |
probably benign
Transcript: ENSMUST00000114663
|
| SMART Domains |
Protein: ENSMUSP00000110311
Gene: ENSMUSG00000070305
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
38 |
149 |
3.35e-5 |
SMART |
|
Blast:IG_like
|
150 |
230 |
6e-26 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114664
AA Change: V167A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110312
Gene: ENSMUSG00000070305
AA Change: V167A
| 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: ENSMUST00000186268
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187113
|
| Meta Mutation Damage Score |
0.3036 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 95.4%
|
| Validation Efficiency |
96% (52/54) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
A |
T |
6: 128,538,525 (GRCm39) |
C632S |
probably damaging |
Het |
| Antxr2 |
T |
A |
5: 98,096,109 (GRCm39) |
M392L |
possibly damaging |
Het |
| Cd101 |
A |
G |
3: 100,915,533 (GRCm39) |
V678A |
probably benign |
Het |
| Clec2g |
T |
C |
6: 128,957,274 (GRCm39) |
|
probably null |
Het |
| Clec2g |
T |
A |
6: 128,925,716 (GRCm39) |
S42T |
probably benign |
Het |
| Creb1 |
A |
G |
1: 64,615,367 (GRCm39) |
I240V |
possibly damaging |
Het |
| D2hgdh |
G |
T |
1: 93,763,009 (GRCm39) |
V265L |
possibly damaging |
Het |
| Dctn2 |
A |
T |
10: 127,113,354 (GRCm39) |
|
probably null |
Het |
| Diablo |
A |
T |
5: 123,656,087 (GRCm39) |
S117R |
probably damaging |
Het |
| Ebf2 |
A |
T |
14: 67,647,499 (GRCm39) |
R349S |
probably damaging |
Het |
| Fam168a |
C |
T |
7: 100,484,618 (GRCm39) |
A252V |
probably benign |
Het |
| Fbn2 |
T |
C |
18: 58,202,256 (GRCm39) |
Y1299C |
probably damaging |
Het |
| Gne |
A |
C |
4: 44,060,099 (GRCm39) |
V98G |
probably damaging |
Het |
| Hk2 |
A |
G |
6: 82,713,509 (GRCm39) |
|
probably null |
Het |
| Ifi206 |
A |
T |
1: 173,314,413 (GRCm39) |
V9D |
probably damaging |
Het |
| Ints3 |
A |
G |
3: 90,307,954 (GRCm39) |
|
probably benign |
Het |
| Itgal |
A |
G |
7: 126,909,503 (GRCm39) |
T56A |
probably benign |
Het |
| Lzts3 |
T |
A |
2: 130,478,460 (GRCm39) |
T213S |
probably benign |
Het |
| Map1b |
A |
G |
13: 99,566,356 (GRCm39) |
S2122P |
unknown |
Het |
| Mei4 |
C |
T |
9: 81,907,635 (GRCm39) |
Q223* |
probably null |
Het |
| Myo1d |
A |
G |
11: 80,528,779 (GRCm39) |
I681T |
probably damaging |
Het |
| Myom2 |
A |
G |
8: 15,167,624 (GRCm39) |
T1070A |
probably benign |
Het |
| Nacc1 |
T |
A |
8: 85,403,828 (GRCm39) |
I16F |
probably damaging |
Het |
| Nfx1 |
T |
C |
4: 40,986,688 (GRCm39) |
|
probably benign |
Het |
| Or10ak12 |
A |
T |
4: 118,666,887 (GRCm39) |
V58D |
probably damaging |
Het |
| Or8g33 |
A |
G |
9: 39,338,188 (GRCm39) |
Y60H |
probably damaging |
Het |
| Ostm1 |
A |
C |
10: 42,568,952 (GRCm39) |
D37A |
probably benign |
Het |
| Pde8a |
T |
C |
7: 80,968,871 (GRCm39) |
|
probably benign |
Het |
| Pole2 |
A |
T |
12: 69,256,661 (GRCm39) |
V288E |
probably damaging |
Het |
| Poteg |
T |
C |
8: 27,937,849 (GRCm39) |
S2P |
probably benign |
Het |
| Ppp2r5c |
A |
T |
12: 110,534,204 (GRCm39) |
M356L |
probably benign |
Het |
| Prkdc |
G |
A |
16: 15,544,368 (GRCm39) |
S1786N |
probably benign |
Het |
| Prox1 |
A |
G |
1: 189,893,116 (GRCm39) |
V443A |
possibly damaging |
Het |
| Prpf6 |
T |
A |
2: 181,257,756 (GRCm39) |
|
probably null |
Het |
| Ptger1 |
A |
T |
8: 84,394,948 (GRCm39) |
T142S |
possibly damaging |
Het |
| Rad54l2 |
C |
A |
9: 106,587,564 (GRCm39) |
V734L |
possibly damaging |
Het |
| Rnpepl1 |
T |
A |
1: 92,846,620 (GRCm39) |
N507K |
possibly damaging |
Het |
| Slc38a10 |
A |
T |
11: 119,997,328 (GRCm39) |
V722E |
probably damaging |
Het |
| Slfn10-ps |
A |
G |
11: 82,926,368 (GRCm39) |
|
noncoding transcript |
Het |
| Slitrk6 |
A |
T |
14: 110,987,364 (GRCm39) |
L781H |
probably damaging |
Het |
| Sult1e1 |
A |
T |
5: 87,727,756 (GRCm39) |
H175Q |
probably damaging |
Het |
| Ube2e3 |
C |
A |
2: 78,750,293 (GRCm39) |
|
probably benign |
Het |
| Vmn1r208 |
A |
T |
13: 22,956,595 (GRCm39) |
W301R |
probably benign |
Het |
| Vps13d |
A |
G |
4: 144,789,133 (GRCm39) |
I746T |
probably benign |
Het |
| Xpnpep3 |
T |
C |
15: 81,314,999 (GRCm39) |
V233A |
probably benign |
Het |
| Zfp329 |
A |
T |
7: 12,544,859 (GRCm39) |
S222T |
probably damaging |
Het |
| Zswim6 |
T |
C |
13: 107,875,098 (GRCm39) |
|
noncoding transcript |
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 |
|
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 |
|
|
R5189:Mpzl3
|
UTSW |
9 |
44,973,408 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
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'- TTTACGAACATGCGTCCTGCCC -3'
(R):5'- TCAGCAGTGGACCAAACGTCAG -3'
Sequencing Primer
(F):5'- ACGTGTGCTTTCACTTTTGG -3'
(R):5'- ACCAAACGTCAGCGGGG -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation