Incidental Mutation 'IGL03330:Tmem184b'
| ID |
416840 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tmem184b
|
| Ensembl Gene |
ENSMUSG00000009035 |
| Gene Name |
transmembrane protein 184b |
| Synonyms |
4732495E13Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.291)
|
| Stock # |
IGL03330
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
79244884-79287503 bp(-) (GRCm39) |
| Type of Mutation |
splice site (6 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 79254179 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154053
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074991]
[ENSMUST00000178522]
[ENSMUST00000228002]
[ENSMUST00000228472]
[ENSMUST00000231076]
|
| AlphaFold |
Q8BG09 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000074991
AA Change: I123N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000074518
Gene: ENSMUSG00000009035
AA Change: I123N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
28 |
N/A |
INTRINSIC |
|
Pfam:Solute_trans_a
|
46 |
319 |
2.9e-94 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000178522
AA Change: I123N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000136416
Gene: ENSMUSG00000009035
AA Change: I123N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
28 |
N/A |
INTRINSIC |
|
Pfam:Solute_trans_a
|
43 |
319 |
1.9e-101 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226929
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000228002
AA Change: I123N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000228472
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231076
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a gene-trapped allele exhibit delayed axon degeneration following peripheral nerve injury, progressive structural abnormalities at neuromuscular synapses, swellings within sensory terminals, sensory-motor dysfunction, and abnormal autophagy. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427D14Rik |
T |
C |
11: 72,050,254 (GRCm39) |
I837V |
probably damaging |
Het |
| Actr2 |
A |
G |
11: 20,041,330 (GRCm39) |
V138A |
probably benign |
Het |
| Adam30 |
G |
A |
3: 98,069,772 (GRCm39) |
C535Y |
probably damaging |
Het |
| Bcor |
G |
A |
X: 11,925,110 (GRCm39) |
T162I |
possibly damaging |
Het |
| Catsperd |
C |
A |
17: 56,939,316 (GRCm39) |
N48K |
possibly damaging |
Het |
| Ccr2 |
T |
C |
9: 123,905,996 (GRCm39) |
I92T |
probably damaging |
Het |
| Cp |
A |
G |
3: 20,020,599 (GRCm39) |
I197M |
probably damaging |
Het |
| Cpne3 |
T |
A |
4: 19,553,774 (GRCm39) |
T86S |
possibly damaging |
Het |
| Dnm3 |
A |
T |
1: 162,148,560 (GRCm39) |
D270E |
probably benign |
Het |
| Enpp1 |
C |
T |
10: 24,540,804 (GRCm39) |
|
probably benign |
Het |
| Ephx1 |
A |
G |
1: 180,827,371 (GRCm39) |
V94A |
possibly damaging |
Het |
| Fbxw25 |
T |
C |
9: 109,474,307 (GRCm39) |
M448V |
probably benign |
Het |
| Fhl2 |
A |
G |
1: 43,192,351 (GRCm39) |
L14P |
probably damaging |
Het |
| Gabra4 |
T |
C |
5: 71,798,407 (GRCm39) |
R191G |
probably null |
Het |
| Gtpbp6 |
T |
C |
5: 110,254,929 (GRCm39) |
T151A |
possibly damaging |
Het |
| Lars1 |
T |
A |
18: 42,353,009 (GRCm39) |
M803L |
probably benign |
Het |
| Myc |
A |
G |
15: 61,859,998 (GRCm39) |
T224A |
probably benign |
Het |
| Noxa1 |
T |
A |
2: 24,980,526 (GRCm39) |
D161V |
possibly damaging |
Het |
| Or2w3b |
A |
C |
11: 58,623,745 (GRCm39) |
L82R |
probably damaging |
Het |
| Or4l1 |
C |
T |
14: 50,166,678 (GRCm39) |
G108R |
probably damaging |
Het |
| Or8g52 |
C |
T |
9: 39,630,784 (GRCm39) |
T87I |
probably benign |
Het |
| Peg3 |
G |
T |
7: 6,713,412 (GRCm39) |
N603K |
probably damaging |
Het |
| Rhox4c |
G |
T |
X: 36,662,181 (GRCm39) |
G15V |
probably benign |
Het |
| Sgcb |
T |
A |
5: 73,797,212 (GRCm39) |
S183C |
probably damaging |
Het |
| Slc6a19 |
T |
A |
13: 73,837,679 (GRCm39) |
I239F |
possibly damaging |
Het |
| Socs7 |
T |
C |
11: 97,269,378 (GRCm39) |
Y399H |
probably damaging |
Het |
| Stc2 |
T |
C |
11: 31,319,804 (GRCm39) |
D20G |
probably benign |
Het |
| Tpo |
A |
G |
12: 30,153,500 (GRCm39) |
S285P |
probably damaging |
Het |
| Vmn2r27 |
G |
T |
6: 124,207,139 (GRCm39) |
Y167* |
probably null |
Het |
|
| Other mutations in Tmem184b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01696:Tmem184b
|
APN |
15 |
79,262,729 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02544:Tmem184b
|
APN |
15 |
79,250,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0172:Tmem184b
|
UTSW |
15 |
79,262,740 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R1938:Tmem184b
|
UTSW |
15 |
79,250,014 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2340:Tmem184b
|
UTSW |
15 |
79,262,732 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2418:Tmem184b
|
UTSW |
15 |
79,250,143 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R4771:Tmem184b
|
UTSW |
15 |
79,261,377 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5945:Tmem184b
|
UTSW |
15 |
79,249,681 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6996:Tmem184b
|
UTSW |
15 |
79,246,959 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7823:Tmem184b
|
UTSW |
15 |
79,249,491 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8004:Tmem184b
|
UTSW |
15 |
79,246,966 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8513:Tmem184b
|
UTSW |
15 |
79,254,123 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8988:Tmem184b
|
UTSW |
15 |
79,261,264 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9674:Tmem184b
|
UTSW |
15 |
79,249,524 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Posted On |
2016-08-02 |
Incidental Mutation