Incidental Mutation 'IGL01871:Timm22'
| ID |
178714 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Timm22
|
| Ensembl Gene |
ENSMUSG00000020843 |
| Gene Name |
translocase of inner mitochondrial membrane 22 |
| Synonyms |
2610511O07Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01871
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
76297778-76307118 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 76298263 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 78
(V78A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021203
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021203]
[ENSMUST00000120699]
[ENSMUST00000152183]
[ENSMUST00000164102]
|
| AlphaFold |
Q9CQ85 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021203
AA Change: V78A
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000021203
Gene: ENSMUSG00000020843
AA Change: V78A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
22 |
N/A |
INTRINSIC |
|
Pfam:Tim17
|
68 |
190 |
1.5e-33 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120699
|
| SMART Domains |
Protein: ENSMUSP00000113238
Gene: ENSMUSG00000020843
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tim17
|
12 |
140 |
4.5e-36 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000152183
AA Change: V78A
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000123281
Gene: ENSMUSG00000020843
AA Change: V78A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
22 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164102
AA Change: V78A
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000132836
Gene: ENSMUSG00000020843
AA Change: V78A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
22 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Multipass transmembrane proteins are brought into mitochondria and inserted into the mitochondrial inner membrane by way of the TIM22 complex. This complex has six subunits and is a twin-pore translocase. The protein encoded by this gene is a subunit of TIM22 and represents the voltage-activated and signal-gated channel. [provided by RefSeq, Jul 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
A |
T |
13: 81,620,513 (GRCm39) |
|
probably null |
Het |
| Aqp7 |
G |
A |
4: 41,045,321 (GRCm39) |
R20* |
probably null |
Het |
| Asxl2 |
G |
T |
12: 3,552,112 (GRCm39) |
V1285L |
probably benign |
Het |
| Bdp1 |
A |
T |
13: 100,202,561 (GRCm39) |
S688T |
probably benign |
Het |
| Cc2d2a |
A |
T |
5: 43,846,311 (GRCm39) |
I357F |
probably damaging |
Het |
| Clasp1 |
A |
T |
1: 118,498,619 (GRCm39) |
I884F |
probably damaging |
Het |
| Cpne4 |
T |
G |
9: 104,802,956 (GRCm39) |
M200R |
possibly damaging |
Het |
| Cyp2d10 |
T |
A |
15: 82,288,086 (GRCm39) |
D180V |
probably damaging |
Het |
| Dicer1 |
A |
T |
12: 104,670,439 (GRCm39) |
V1042D |
probably damaging |
Het |
| Dlc1 |
G |
A |
8: 37,317,334 (GRCm39) |
T447I |
probably damaging |
Het |
| Efl1 |
T |
C |
7: 82,412,527 (GRCm39) |
M972T |
possibly damaging |
Het |
| Erbin |
A |
G |
13: 103,971,274 (GRCm39) |
S781P |
probably damaging |
Het |
| Galnt4 |
G |
A |
10: 98,945,103 (GRCm39) |
G276D |
probably damaging |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gmppa |
A |
G |
1: 75,413,661 (GRCm39) |
I41V |
probably damaging |
Het |
| Golga1 |
C |
T |
2: 38,940,210 (GRCm39) |
|
probably benign |
Het |
| H2-Ob |
G |
T |
17: 34,461,519 (GRCm39) |
W86L |
probably damaging |
Het |
| Hnrnpr |
G |
A |
4: 136,066,885 (GRCm39) |
R482H |
unknown |
Het |
| L2hgdh |
T |
C |
12: 69,768,869 (GRCm39) |
E81G |
probably damaging |
Het |
| Mre11a |
T |
C |
9: 14,723,193 (GRCm39) |
V389A |
possibly damaging |
Het |
| Mxra8 |
A |
G |
4: 155,927,258 (GRCm39) |
T372A |
probably benign |
Het |
| Ncapg |
T |
A |
5: 45,845,923 (GRCm39) |
S593R |
probably benign |
Het |
| Ndufaf1 |
C |
T |
2: 119,488,768 (GRCm39) |
W250* |
probably null |
Het |
| Neb |
T |
C |
2: 52,043,081 (GRCm39) |
E6783G |
probably damaging |
Het |
| Nmt2 |
T |
C |
2: 3,313,711 (GRCm39) |
Y175H |
probably damaging |
Het |
| Olfml2b |
T |
C |
1: 170,489,924 (GRCm39) |
|
probably benign |
Het |
| Pitpnm3 |
T |
A |
11: 71,946,964 (GRCm39) |
M812L |
probably damaging |
Het |
| Pou2f3 |
A |
G |
9: 43,045,768 (GRCm39) |
|
probably benign |
Het |
| Prkdc |
A |
G |
16: 15,600,951 (GRCm39) |
T2871A |
probably benign |
Het |
| Rapgef4 |
A |
G |
2: 72,028,704 (GRCm39) |
T392A |
possibly damaging |
Het |
| Rhov |
G |
T |
2: 119,101,219 (GRCm39) |
Q71K |
probably benign |
Het |
| Slc22a15 |
T |
C |
3: 101,768,110 (GRCm39) |
|
probably benign |
Het |
| Spaca1 |
T |
A |
4: 34,040,894 (GRCm39) |
N22Y |
probably damaging |
Het |
| Stmnd1 |
A |
G |
13: 46,443,189 (GRCm39) |
E107G |
probably damaging |
Het |
| Tent5b |
A |
G |
4: 133,213,620 (GRCm39) |
I164V |
possibly damaging |
Het |
| Usp47 |
T |
C |
7: 111,676,993 (GRCm39) |
|
probably benign |
Het |
| Utp4 |
A |
C |
8: 107,638,949 (GRCm39) |
K419T |
probably benign |
Het |
| Zfp410 |
T |
C |
12: 84,372,565 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Timm22 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
obsidian
|
UTSW |
11 |
76,297,945 (GRCm39) |
missense |
probably benign |
0.00 |
|
warsling
|
UTSW |
11 |
76,304,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2851:Timm22
|
UTSW |
11 |
76,304,925 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6362:Timm22
|
UTSW |
11 |
76,301,953 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6388:Timm22
|
UTSW |
11 |
76,297,945 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6416:Timm22
|
UTSW |
11 |
76,301,965 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6433:Timm22
|
UTSW |
11 |
76,300,570 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6707:Timm22
|
UTSW |
11 |
76,298,151 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7054:Timm22
|
UTSW |
11 |
76,298,071 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7469:Timm22
|
UTSW |
11 |
76,298,134 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8065:Timm22
|
UTSW |
11 |
76,304,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9541:Timm22
|
UTSW |
11 |
76,300,641 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R9569:Timm22
|
UTSW |
11 |
76,298,196 (GRCm39) |
missense |
probably benign |
0.06 |
|
Z1186:Timm22
|
UTSW |
11 |
76,297,943 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1187:Timm22
|
UTSW |
11 |
76,297,943 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1188:Timm22
|
UTSW |
11 |
76,297,943 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1189:Timm22
|
UTSW |
11 |
76,297,943 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1190:Timm22
|
UTSW |
11 |
76,297,943 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1192:Timm22
|
UTSW |
11 |
76,297,943 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2014-05-07 |
Incidental Mutation