Incidental Mutation 'IGL02116:Tmco3'
ID |
280406 |
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 # |
IGL02116
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
13338190-13372924 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
A to T
at 13342706 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145430
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045229]
[ENSMUST00000045366]
[ENSMUST00000110838]
[ENSMUST00000110839]
[ENSMUST00000110840]
[ENSMUST00000203467]
[ENSMUST00000203604]
|
AlphaFold |
Q8BH01 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000045229
|
SMART Domains |
Protein: ENSMUSP00000040347 Gene: ENSMUSG00000038497
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: ENSMUST00000211645
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211402
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210402
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204673
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg5 |
A |
T |
17: 84,981,018 (GRCm39) |
N190K |
possibly damaging |
Het |
Adamts19 |
T |
C |
18: 58,970,571 (GRCm39) |
S52P |
probably benign |
Het |
Ahrr |
G |
T |
13: 74,368,692 (GRCm39) |
H160Q |
possibly damaging |
Het |
Ap4s1 |
T |
C |
12: 51,769,833 (GRCm39) |
|
probably null |
Het |
Atrn |
T |
C |
2: 130,800,009 (GRCm39) |
V462A |
probably damaging |
Het |
D630003M21Rik |
T |
C |
2: 158,045,130 (GRCm39) |
S800G |
possibly damaging |
Het |
Dach1 |
T |
G |
14: 98,138,859 (GRCm39) |
N528T |
probably damaging |
Het |
Foxl2 |
T |
C |
9: 98,838,111 (GRCm39) |
M133T |
probably damaging |
Het |
Grsf1 |
A |
G |
5: 88,818,033 (GRCm39) |
|
probably null |
Het |
Gtpbp4 |
A |
G |
13: 9,042,772 (GRCm39) |
I43T |
probably damaging |
Het |
Helz2 |
T |
C |
2: 180,873,978 (GRCm39) |
Y2172C |
probably damaging |
Het |
Hey1 |
G |
T |
3: 8,731,640 (GRCm39) |
|
probably null |
Het |
Hnrnph3 |
A |
T |
10: 62,851,855 (GRCm39) |
|
probably benign |
Het |
Hps1 |
A |
T |
19: 42,759,568 (GRCm39) |
Y81* |
probably null |
Het |
Inhba |
A |
G |
13: 16,201,557 (GRCm39) |
H373R |
probably benign |
Het |
Leo1 |
T |
A |
9: 75,356,697 (GRCm39) |
I359K |
probably damaging |
Het |
Mcoln3 |
A |
G |
3: 145,839,664 (GRCm39) |
N339D |
probably benign |
Het |
Mrpl19 |
G |
A |
6: 81,942,758 (GRCm39) |
P51S |
probably benign |
Het |
Nadk |
C |
A |
4: 155,663,763 (GRCm39) |
|
probably benign |
Het |
Or5an11 |
A |
G |
19: 12,246,374 (GRCm39) |
Y260C |
probably damaging |
Het |
Or5d39 |
T |
A |
2: 87,979,632 (GRCm39) |
T244S |
probably benign |
Het |
Pappa2 |
T |
G |
1: 158,672,695 (GRCm39) |
I1083L |
probably benign |
Het |
R3hdm2 |
A |
G |
10: 127,334,421 (GRCm39) |
D948G |
probably damaging |
Het |
Rbm15 |
A |
T |
3: 107,237,596 (GRCm39) |
L934Q |
probably damaging |
Het |
Rec8 |
T |
A |
14: 55,862,336 (GRCm39) |
|
probably null |
Het |
Riok1 |
A |
G |
13: 38,243,932 (GRCm39) |
E486G |
possibly damaging |
Het |
Rptn |
A |
C |
3: 93,302,404 (GRCm39) |
E40A |
possibly damaging |
Het |
Setdb2 |
C |
T |
14: 59,639,764 (GRCm39) |
R709Q |
probably damaging |
Het |
Slc40a1 |
T |
C |
1: 45,950,688 (GRCm39) |
T255A |
probably benign |
Het |
Slc5a8 |
A |
T |
10: 88,755,362 (GRCm39) |
M490L |
probably benign |
Het |
Sned1 |
C |
A |
1: 93,209,447 (GRCm39) |
C62* |
probably null |
Het |
Sptbn4 |
T |
C |
7: 27,063,782 (GRCm39) |
T2215A |
probably benign |
Het |
Synpo |
T |
A |
18: 60,736,528 (GRCm39) |
R234W |
probably damaging |
Het |
Tmprss13 |
A |
G |
9: 45,244,972 (GRCm39) |
D250G |
probably benign |
Het |
Vmn2r31 |
T |
A |
7: 7,397,548 (GRCm39) |
I237F |
probably damaging |
Het |
Wdr90 |
A |
G |
17: 26,078,466 (GRCm39) |
V306A |
probably benign |
Het |
Zfp629 |
A |
G |
7: 127,211,890 (GRCm39) |
W8R |
probably damaging |
Het |
Zim1 |
T |
C |
7: 6,681,253 (GRCm39) |
T137A |
probably benign |
Het |
|
Other mutations in Tmco3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00824:Tmco3
|
APN |
8 |
13,342,825 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01139:Tmco3
|
APN |
8 |
13,369,887 (GRCm39) |
missense |
possibly damaging |
0.92 |
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 |
2015-04-16 |