Incidental Mutation 'IGL00824:Tmco3'
| ID |
14481 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tmco3
|
| Ensembl Gene |
ENSMUSG00000038497 |
| Gene Name |
transmembrane and coiled-coil domains 3 |
| Synonyms |
B230339H12Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00824
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
13338190-13372924 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 13342825 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 187
(V187E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040347
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045229]
[ENSMUST00000045366]
[ENSMUST00000110838]
[ENSMUST00000110839]
[ENSMUST00000110840]
[ENSMUST00000203467]
[ENSMUST00000203604]
|
| AlphaFold |
Q8BH01 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000045229
AA Change: V187E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000040347
Gene: ENSMUSG00000038497
AA Change: V187E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
coiled coil region
|
124 |
204 |
N/A |
INTRINSIC |
|
Pfam:Na_H_Exchanger
|
274 |
662 |
9.2e-74 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045366
|
| SMART Domains |
Protein: ENSMUSP00000047208
Gene: ENSMUSG00000038506
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UBA_4
|
9 |
51 |
1.5e-13 |
PFAM |
|
Pfam:Cullin_binding
|
136 |
247 |
2.2e-39 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110838
|
| SMART Domains |
Protein: ENSMUSP00000106462
Gene: ENSMUSG00000038506
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UBA_4
|
9 |
50 |
9.9e-14 |
PFAM |
|
PDB:4GAO|G
|
62 |
173 |
3e-71 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110839
|
| SMART Domains |
Protein: ENSMUSP00000106463
Gene: ENSMUSG00000038506
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UBA_4
|
9 |
50 |
1.1e-13 |
PFAM |
|
Pfam:Cullin_binding
|
134 |
206 |
2.3e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110840
|
| SMART Domains |
Protein: ENSMUSP00000106464
Gene: ENSMUSG00000038506
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UBA_4
|
9 |
50 |
7.6e-14 |
PFAM |
|
PDB:4GAO|G
|
62 |
199 |
6e-75 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203467
|
| SMART Domains |
Protein: ENSMUSP00000145399
Gene: ENSMUSG00000038506
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UBA_4
|
9 |
51 |
7.5e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203604
|
| SMART Domains |
Protein: ENSMUSP00000145430
Gene: ENSMUSG00000038506
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UBA_4
|
9 |
51 |
4.7e-11 |
PFAM |
|
Pfam:Cullin_binding
|
136 |
213 |
1.1e-14 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210063
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211402
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204673
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211645
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210402
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atl1 |
A |
G |
12: 69,979,012 (GRCm39) |
T147A |
probably damaging |
Het |
| Cdh17 |
A |
G |
4: 11,784,675 (GRCm39) |
K277R |
probably benign |
Het |
| Cyp2j5 |
A |
G |
4: 96,552,160 (GRCm39) |
F30L |
probably benign |
Het |
| Hmcn1 |
A |
T |
1: 150,532,485 (GRCm39) |
V3134E |
probably damaging |
Het |
| Il2ra |
T |
C |
2: 11,687,910 (GRCm39) |
V230A |
probably benign |
Het |
| Mgst2 |
C |
T |
3: 51,589,999 (GRCm39) |
P146S |
probably benign |
Het |
| Myrfl |
T |
C |
10: 116,685,264 (GRCm39) |
|
probably benign |
Het |
| Nat8f5 |
A |
C |
6: 85,794,279 (GRCm39) |
L227R |
probably damaging |
Het |
| Osbpl2 |
G |
A |
2: 179,792,060 (GRCm39) |
V255M |
probably benign |
Het |
| Papln |
A |
G |
12: 83,817,210 (GRCm39) |
S27G |
possibly damaging |
Het |
| Paqr7 |
A |
G |
4: 134,234,278 (GRCm39) |
Y45C |
probably damaging |
Het |
| Pkhd1 |
A |
G |
1: 20,151,408 (GRCm39) |
|
probably null |
Het |
| Plrg1 |
C |
T |
3: 82,975,642 (GRCm39) |
T295I |
probably damaging |
Het |
| Spata31e2 |
T |
C |
1: 26,722,670 (GRCm39) |
I837V |
possibly damaging |
Het |
| Sypl1 |
T |
A |
12: 33,015,505 (GRCm39) |
|
probably benign |
Het |
| Trmt2b |
T |
C |
X: 133,168,154 (GRCm39) |
I47M |
possibly damaging |
Het |
| Vmn2r61 |
T |
A |
7: 41,916,438 (GRCm39) |
N350K |
probably benign |
Het |
| Zfp687 |
A |
G |
3: 94,916,496 (GRCm39) |
L842P |
probably damaging |
Het |
|
| Other mutations in Tmco3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01139:Tmco3
|
APN |
8 |
13,369,887 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02116:Tmco3
|
APN |
8 |
13,342,706 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03114:Tmco3
|
APN |
8 |
13,348,205 (GRCm39) |
splice site |
probably benign |
|
|
Ganado
|
UTSW |
8 |
13,342,077 (GRCm39) |
splice site |
probably null |
|
|
R0244:Tmco3
|
UTSW |
8 |
13,342,037 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0385:Tmco3
|
UTSW |
8 |
13,346,027 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0711:Tmco3
|
UTSW |
8 |
13,342,039 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1594:Tmco3
|
UTSW |
8 |
13,342,052 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1727:Tmco3
|
UTSW |
8 |
13,368,866 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R1752:Tmco3
|
UTSW |
8 |
13,341,741 (GRCm39) |
missense |
probably benign |
|
|
R2375:Tmco3
|
UTSW |
8 |
13,342,059 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R2850:Tmco3
|
UTSW |
8 |
13,345,024 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3843:Tmco3
|
UTSW |
8 |
13,346,114 (GRCm39) |
splice site |
probably benign |
|
|
R4003:Tmco3
|
UTSW |
8 |
13,341,959 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4059:Tmco3
|
UTSW |
8 |
13,370,848 (GRCm39) |
missense |
probably benign |
0.27 |
|
R5071:Tmco3
|
UTSW |
8 |
13,342,860 (GRCm39) |
nonsense |
probably null |
|
|
R5072:Tmco3
|
UTSW |
8 |
13,342,860 (GRCm39) |
nonsense |
probably null |
|
|
R5456:Tmco3
|
UTSW |
8 |
13,369,815 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5556:Tmco3
|
UTSW |
8 |
13,344,870 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5826:Tmco3
|
UTSW |
8 |
13,360,314 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6200:Tmco3
|
UTSW |
8 |
13,342,077 (GRCm39) |
splice site |
probably null |
|
|
R6586:Tmco3
|
UTSW |
8 |
13,370,894 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R6858:Tmco3
|
UTSW |
8 |
13,363,924 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6867:Tmco3
|
UTSW |
8 |
13,363,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6944:Tmco3
|
UTSW |
8 |
13,353,729 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7082:Tmco3
|
UTSW |
8 |
13,370,847 (GRCm39) |
nonsense |
probably null |
|
|
R7192:Tmco3
|
UTSW |
8 |
13,369,605 (GRCm39) |
splice site |
probably null |
|
|
R7283:Tmco3
|
UTSW |
8 |
13,369,605 (GRCm39) |
splice site |
probably null |
|
|
R7285:Tmco3
|
UTSW |
8 |
13,369,605 (GRCm39) |
splice site |
probably null |
|
|
R7287:Tmco3
|
UTSW |
8 |
13,369,605 (GRCm39) |
splice site |
probably null |
|
|
R7314:Tmco3
|
UTSW |
8 |
13,369,605 (GRCm39) |
splice site |
probably null |
|
|
R7442:Tmco3
|
UTSW |
8 |
13,370,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8084:Tmco3
|
UTSW |
8 |
13,353,873 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8708:Tmco3
|
UTSW |
8 |
13,345,998 (GRCm39) |
missense |
probably benign |
|
|
R8755:Tmco3
|
UTSW |
8 |
13,341,782 (GRCm39) |
missense |
probably benign |
|
|
R9156:Tmco3
|
UTSW |
8 |
13,360,228 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9226:Tmco3
|
UTSW |
8 |
13,360,143 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Posted On |
2012-12-06 |
Incidental Mutation