Incidental Mutation 'R6388:Timm22'
| ID |
515643 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Timm22
|
| Ensembl Gene |
ENSMUSG00000020843 |
| Gene Name |
translocase of inner mitochondrial membrane 22 |
| Synonyms |
2610511O07Rik |
| MMRRC Submission |
044537-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6388 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
76297778-76307118 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 76297945 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 19
(V19I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113238
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021203]
[ENSMUST00000120699]
[ENSMUST00000152183]
[ENSMUST00000164102]
|
| AlphaFold |
Q9CQ85 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021203
AA Change: -1
|
| SMART Domains |
Protein: ENSMUSP00000021203
Gene: ENSMUSG00000020843
AA Change: -1
| 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
AA Change: V19I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000113238
Gene: ENSMUSG00000020843
AA Change: V19I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tim17
|
12 |
140 |
4.5e-36 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152183
|
| SMART Domains |
Protein: ENSMUSP00000123281
Gene: ENSMUSG00000020843
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
22 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164102
|
| SMART Domains |
Protein: ENSMUSP00000132836
Gene: ENSMUSG00000020843
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
22 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.1%
- 20x: 96.8%
|
| Validation Efficiency |
100% (35/35) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
C |
T |
13: 77,410,230 (GRCm39) |
R560W |
probably benign |
Het |
| Abi3 |
A |
G |
11: 95,724,464 (GRCm39) |
|
probably null |
Het |
| Ap1b1 |
T |
C |
11: 4,976,319 (GRCm39) |
I449T |
probably damaging |
Het |
| Atpaf2 |
C |
A |
11: 60,307,833 (GRCm39) |
|
probably benign |
Het |
| Car5a |
T |
C |
8: 122,653,910 (GRCm39) |
Y118C |
probably damaging |
Het |
| Ccdc18 |
A |
G |
5: 108,349,214 (GRCm39) |
D1002G |
possibly damaging |
Het |
| Ciao1 |
A |
T |
2: 127,088,396 (GRCm39) |
C142* |
probably null |
Het |
| Clec14a |
A |
G |
12: 58,314,243 (GRCm39) |
*460R |
probably null |
Het |
| Defb30 |
T |
A |
14: 63,287,213 (GRCm39) |
|
probably benign |
Het |
| Dnah10 |
A |
G |
5: 124,906,710 (GRCm39) |
K4247R |
probably benign |
Het |
| Eif5b |
G |
A |
1: 38,058,081 (GRCm39) |
A128T |
unknown |
Het |
| Fam3b |
T |
C |
16: 97,279,591 (GRCm39) |
T113A |
probably benign |
Het |
| Fam98c |
C |
T |
7: 28,854,728 (GRCm39) |
R126Q |
probably damaging |
Het |
| Fastkd3 |
C |
T |
13: 68,738,319 (GRCm39) |
L623F |
probably damaging |
Het |
| Golga1 |
T |
C |
2: 38,913,183 (GRCm39) |
D543G |
probably benign |
Het |
| Gpatch8 |
A |
T |
11: 102,369,314 (GRCm39) |
V1408E |
probably damaging |
Het |
| Icosl |
T |
A |
10: 77,905,366 (GRCm39) |
L3Q |
possibly damaging |
Homo |
| Igf2r |
A |
G |
17: 12,902,787 (GRCm39) |
V2421A |
probably benign |
Het |
| Iglon5 |
T |
C |
7: 43,127,556 (GRCm39) |
T165A |
possibly damaging |
Het |
| Map3k11 |
A |
G |
19: 5,740,279 (GRCm39) |
E2G |
probably damaging |
Het |
| Nipbl |
A |
T |
15: 8,330,268 (GRCm39) |
C2386S |
probably damaging |
Het |
| Nos1 |
A |
G |
5: 118,052,501 (GRCm39) |
E837G |
possibly damaging |
Het |
| Npc1l1 |
T |
C |
11: 6,174,145 (GRCm39) |
E720G |
probably damaging |
Het |
| Or1e35 |
A |
G |
11: 73,798,118 (GRCm39) |
S67P |
probably damaging |
Het |
| Pla1a |
T |
A |
16: 38,217,834 (GRCm39) |
M385L |
probably benign |
Het |
| Saxo4 |
A |
G |
19: 10,459,665 (GRCm39) |
V14A |
probably damaging |
Het |
| Setdb2 |
T |
C |
14: 59,662,146 (GRCm39) |
T82A |
probably benign |
Het |
| Smarcd3 |
A |
G |
5: 24,801,024 (GRCm39) |
F128L |
possibly damaging |
Het |
| St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
| Syvn1 |
T |
A |
19: 6,102,381 (GRCm39) |
V483E |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,621,189 (GRCm39) |
D15716Y |
probably damaging |
Het |
| Ube3a |
C |
T |
7: 58,954,669 (GRCm39) |
|
probably null |
Het |
| Ugp2 |
A |
G |
11: 21,272,051 (GRCm39) |
|
probably null |
Het |
| Vmn1r13 |
T |
A |
6: 57,186,903 (GRCm39) |
F21I |
probably benign |
Het |
| Vps13d |
T |
C |
4: 144,882,144 (GRCm39) |
S1150G |
probably benign |
Het |
| Zp3 |
T |
C |
5: 136,011,548 (GRCm39) |
V122A |
probably benign |
Het |
|
| Other mutations in Timm22 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01871:Timm22
|
APN |
11 |
76,298,263 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACGGCTTTCTGGGAAGTGTAG -3'
(R):5'- AGAAGGCTGTACTGCAACG -3'
Sequencing Primer
(F):5'- GTTCGAGTTAGAACTACAAATCCCGG -3'
(R):5'- TGTACTGCAACGGAGCTTC -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation