Incidental Mutation 'IGL01569:Timm21'
| ID |
91093 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Timm21
|
| Ensembl Gene |
ENSMUSG00000024645 |
| Gene Name |
translocase of inner mitochondrial membrane 21 |
| Synonyms |
1700034H14Rik, 2700002I20Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01569
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
84964316-84969649 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 84969400 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 8
(V8A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025547
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025547]
[ENSMUST00000037718]
[ENSMUST00000224467]
[ENSMUST00000225445]
|
| AlphaFold |
Q8CCM6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025547
AA Change: V8A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000025547
Gene: ENSMUSG00000024645
AA Change: V8A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TIM21
|
98 |
240 |
6.8e-51 |
PFAM |
|
Pfam:Coa1
|
108 |
236 |
5.3e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037718
|
| SMART Domains |
Protein: ENSMUSP00000045925
Gene: ENSMUSG00000034391
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
35 |
42 |
N/A |
INTRINSIC |
|
FBOX
|
46 |
86 |
3.4e-7 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223789
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224467
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225445
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010I14Rik |
T |
C |
17: 9,215,827 (GRCm39) |
V311A |
probably benign |
Het |
| Bdh1 |
T |
C |
16: 31,273,909 (GRCm39) |
M194T |
probably benign |
Het |
| Dnmbp |
T |
C |
19: 43,863,295 (GRCm39) |
R808G |
probably benign |
Het |
| Esco2 |
T |
C |
14: 66,063,977 (GRCm39) |
I402M |
probably benign |
Het |
| Gm5422 |
T |
C |
10: 31,125,897 (GRCm39) |
|
noncoding transcript |
Het |
| Il5ra |
C |
A |
6: 106,708,794 (GRCm39) |
M1I |
probably null |
Het |
| Kcnk4 |
T |
A |
19: 6,904,545 (GRCm39) |
I240F |
probably damaging |
Het |
| Mast4 |
T |
C |
13: 102,897,523 (GRCm39) |
E698G |
probably damaging |
Het |
| Mkln1 |
A |
G |
6: 31,405,063 (GRCm39) |
|
probably benign |
Het |
| Mypn |
C |
T |
10: 62,963,538 (GRCm39) |
G978R |
probably damaging |
Het |
| Or2m12 |
T |
C |
16: 19,105,410 (GRCm39) |
T28A |
probably benign |
Het |
| Podn |
T |
A |
4: 107,881,496 (GRCm39) |
Y6F |
probably damaging |
Het |
| Psmg2 |
G |
A |
18: 67,786,293 (GRCm39) |
V218I |
probably benign |
Het |
| Rad54l |
T |
C |
4: 115,956,195 (GRCm39) |
D544G |
probably damaging |
Het |
| Reck |
C |
A |
4: 43,925,172 (GRCm39) |
S470R |
probably benign |
Het |
| Sik3 |
A |
G |
9: 46,123,024 (GRCm39) |
H891R |
probably benign |
Het |
| Tbata |
C |
T |
10: 61,011,739 (GRCm39) |
R92* |
probably null |
Het |
| Tdrd1 |
A |
G |
19: 56,822,841 (GRCm39) |
N103S |
probably damaging |
Het |
| Tnn |
A |
G |
1: 159,948,124 (GRCm39) |
V863A |
possibly damaging |
Het |
| Togaram1 |
A |
G |
12: 65,029,436 (GRCm39) |
D953G |
possibly damaging |
Het |
| Tpm1 |
T |
C |
9: 66,938,390 (GRCm39) |
|
probably null |
Het |
| Trgv4 |
A |
G |
13: 19,369,678 (GRCm39) |
|
probably benign |
Het |
| Vmn1r8 |
A |
T |
6: 57,013,272 (GRCm39) |
N108Y |
possibly damaging |
Het |
| Vmn1r89 |
T |
C |
7: 12,953,432 (GRCm39) |
M56T |
probably benign |
Het |
| Ythdc2 |
A |
G |
18: 45,020,718 (GRCm39) |
E1434G |
probably benign |
Het |
|
| Other mutations in Timm21 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0238:Timm21
|
UTSW |
18 |
84,965,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0238:Timm21
|
UTSW |
18 |
84,965,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0656:Timm21
|
UTSW |
18 |
84,967,326 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0918:Timm21
|
UTSW |
18 |
84,967,387 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0919:Timm21
|
UTSW |
18 |
84,967,387 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1384:Timm21
|
UTSW |
18 |
84,967,387 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1740:Timm21
|
UTSW |
18 |
84,967,387 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1743:Timm21
|
UTSW |
18 |
84,967,387 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1873:Timm21
|
UTSW |
18 |
84,967,387 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1875:Timm21
|
UTSW |
18 |
84,967,387 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2875:Timm21
|
UTSW |
18 |
84,969,217 (GRCm39) |
missense |
probably benign |
|
|
R5022:Timm21
|
UTSW |
18 |
84,967,539 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5023:Timm21
|
UTSW |
18 |
84,967,539 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7783:Timm21
|
UTSW |
18 |
84,965,846 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R8139:Timm21
|
UTSW |
18 |
84,969,263 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8994:Timm21
|
UTSW |
18 |
84,969,489 (GRCm39) |
intron |
probably benign |
|
|
| Posted On |
2013-12-09 |
Incidental Mutation