Incidental Mutation 'R6707:Timm22'
ID |
528989 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Timm22
|
Ensembl Gene |
ENSMUSG00000020843 |
Gene Name |
translocase of inner mitochondrial membrane 22 |
Synonyms |
2610511O07Rik |
MMRRC Submission |
044825-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6707 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
76297778-76307118 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 76298151 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Phenylalanine
at position 41
(L41F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000123281
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021203]
[ENSMUST00000120699]
[ENSMUST00000152183]
[ENSMUST00000164102]
|
AlphaFold |
Q9CQ85 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000021203
AA Change: L41F
PolyPhen 2
Score 0.229 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000021203 Gene: ENSMUSG00000020843 AA Change: L41F
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 |
possibly damaging
Transcript: ENSMUST00000152183
AA Change: L41F
PolyPhen 2
Score 0.811 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000123281 Gene: ENSMUSG00000020843 AA Change: L41F
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
22 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000164102
AA Change: L41F
PolyPhen 2
Score 0.285 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000132836 Gene: ENSMUSG00000020843 AA Change: L41F
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
22 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0638 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.6%
|
Validation Efficiency |
100% (42/42) |
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acss3 |
T |
C |
10: 106,920,783 (GRCm39) |
Y109C |
probably damaging |
Het |
Actg2 |
C |
T |
6: 83,490,076 (GRCm39) |
W341* |
probably null |
Het |
Adam29 |
C |
T |
8: 56,325,135 (GRCm39) |
G440R |
probably damaging |
Het |
Arfgef3 |
T |
C |
10: 18,496,903 (GRCm39) |
D1153G |
probably benign |
Het |
Arhgef28 |
T |
C |
13: 98,211,624 (GRCm39) |
T120A |
possibly damaging |
Het |
Arhgef28 |
G |
T |
13: 98,073,224 (GRCm39) |
Q1371K |
probably damaging |
Het |
BC051665 |
A |
T |
13: 60,932,222 (GRCm39) |
D122E |
probably benign |
Het |
Boc |
A |
T |
16: 44,320,979 (GRCm39) |
I227N |
possibly damaging |
Het |
Clca3b |
T |
A |
3: 144,550,288 (GRCm39) |
Q219L |
probably benign |
Het |
Cplane1 |
G |
A |
15: 8,252,606 (GRCm39) |
V1943M |
probably benign |
Het |
Cyp2c66 |
T |
A |
19: 39,174,944 (GRCm39) |
F448Y |
probably damaging |
Het |
Ddx5 |
A |
G |
11: 106,673,058 (GRCm39) |
M489T |
probably benign |
Het |
Dnm1 |
T |
C |
2: 32,226,253 (GRCm39) |
D312G |
probably null |
Het |
Ecpas |
T |
A |
4: 58,879,101 (GRCm39) |
I63L |
possibly damaging |
Het |
Eqtn |
T |
C |
4: 94,796,056 (GRCm39) |
D215G |
probably benign |
Het |
Evi5l |
A |
T |
8: 4,256,322 (GRCm39) |
T706S |
probably benign |
Het |
Gtf2f1 |
T |
C |
17: 57,314,770 (GRCm39) |
E90G |
probably benign |
Het |
Hpx |
A |
T |
7: 105,244,682 (GRCm39) |
S168T |
probably benign |
Het |
Ipo4 |
C |
A |
14: 55,866,361 (GRCm39) |
V773L |
possibly damaging |
Het |
Ireb2 |
C |
T |
9: 54,811,245 (GRCm39) |
T716I |
probably damaging |
Het |
Klhl21 |
A |
G |
4: 152,096,784 (GRCm39) |
D350G |
possibly damaging |
Het |
Myh13 |
A |
T |
11: 67,241,086 (GRCm39) |
N821I |
probably damaging |
Het |
Nipbl |
G |
T |
15: 8,354,043 (GRCm39) |
T1698K |
probably benign |
Het |
Nod2 |
A |
G |
8: 89,391,817 (GRCm39) |
H686R |
probably benign |
Het |
Ntf3 |
A |
G |
6: 126,141,691 (GRCm39) |
|
probably null |
Het |
Or6c215 |
G |
T |
10: 129,637,689 (GRCm39) |
A235D |
probably damaging |
Het |
Or6c69 |
T |
C |
10: 129,747,608 (GRCm39) |
T180A |
probably benign |
Het |
Parp9 |
A |
T |
16: 35,768,303 (GRCm39) |
H161L |
probably damaging |
Het |
Pkhd1l1 |
A |
G |
15: 44,392,539 (GRCm39) |
N1625D |
probably benign |
Het |
Rdx |
T |
C |
9: 51,974,954 (GRCm39) |
F30S |
probably damaging |
Het |
Smo |
T |
A |
6: 29,736,173 (GRCm39) |
V55E |
probably benign |
Het |
Sox9 |
C |
A |
11: 112,673,698 (GRCm39) |
N96K |
probably damaging |
Het |
Spp2 |
T |
G |
1: 88,345,016 (GRCm39) |
|
probably null |
Het |
Tex46 |
A |
G |
4: 136,340,161 (GRCm39) |
N82S |
probably benign |
Het |
Tmem30a |
A |
T |
9: 79,681,547 (GRCm39) |
Y207* |
probably null |
Het |
Tmem70 |
T |
C |
1: 16,747,531 (GRCm39) |
V216A |
probably damaging |
Het |
Tspan18 |
T |
C |
2: 93,040,302 (GRCm39) |
N151S |
probably benign |
Het |
Vmn2r90 |
T |
C |
17: 17,948,364 (GRCm39) |
C537R |
probably damaging |
Het |
Vps50 |
A |
G |
6: 3,545,583 (GRCm39) |
Y339C |
probably damaging |
Het |
Zp2 |
C |
T |
7: 119,733,145 (GRCm39) |
G599R |
possibly damaging |
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 |
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 |
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'- TGGAATCGGCTGTGGGAAATAC -3'
(R):5'- TGCAATCAAGGTCGACACC -3'
Sequencing Primer
(F):5'- CGAAGTGAAAGGTACTAGAGCCCC -3'
(R):5'- CTCCTAAACGCGTTGTCTTGATAAGG -3'
|
Posted On |
2018-07-24 |