Incidental Mutation 'R7817:Tomm70a'
| ID |
601620 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tomm70a
|
| Ensembl Gene |
ENSMUSG00000022752 |
| Gene Name |
translocase of outer mitochondrial membrane 70A |
| Synonyms |
D16Ium22e, Tom70, 2610044B22Rik, Tomm70a, D16Wsu109e, D16Ium22 |
| MMRRC Submission |
045871-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.969)
|
| Stock # |
R7817 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
56942077-56974893 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 56965136 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 440
(A440V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129186
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000166897]
|
| AlphaFold |
Q9CZW5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000166897
AA Change: A440V
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000129186
Gene: ENSMUSG00000022752
AA Change: A440V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
37 |
N/A |
INTRINSIC |
|
low complexity region
|
45 |
61 |
N/A |
INTRINSIC |
|
low complexity region
|
64 |
75 |
N/A |
INTRINSIC |
|
low complexity region
|
98 |
108 |
N/A |
INTRINSIC |
|
TPR
|
117 |
150 |
1.04e-7 |
SMART |
|
TPR
|
156 |
189 |
1.97e-3 |
SMART |
|
TPR
|
190 |
223 |
1.6e1 |
SMART |
|
low complexity region
|
278 |
291 |
N/A |
INTRINSIC |
|
TPR
|
332 |
365 |
1.17e1 |
SMART |
|
TPR
|
370 |
403 |
3.5e0 |
SMART |
|
TPR
|
404 |
437 |
3.32e-1 |
SMART |
|
TPR
|
445 |
478 |
7.49e1 |
SMART |
|
TPR
|
479 |
512 |
9.39e-1 |
SMART |
|
TPR
|
513 |
547 |
9.48e1 |
SMART |
|
TPR
|
548 |
581 |
4.03e0 |
SMART |
|
| Meta Mutation Damage Score |
0.1407 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
96% (45/47) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an import receptor of the outer mitochondrial membrane that is part of the translocase of the outer membrane complex. This protein is involved in the import of mitochondrial precursor proteins. [provided by RefSeq, Oct 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts17 |
T |
C |
7: 66,559,224 (GRCm39) |
V338A |
probably damaging |
Het |
| Akap13 |
G |
A |
7: 75,380,213 (GRCm39) |
R462H |
probably damaging |
Het |
| BC005537 |
C |
T |
13: 24,987,382 (GRCm39) |
R7W |
possibly damaging |
Het |
| Bivm |
G |
T |
1: 44,165,561 (GRCm39) |
A4S |
probably benign |
Het |
| Cacng3 |
G |
A |
7: 122,367,822 (GRCm39) |
R234Q |
probably damaging |
Het |
| Card6 |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
15: 5,128,173 (GRCm39) |
|
probably benign |
Het |
| Cftr |
A |
G |
6: 18,267,967 (GRCm39) |
D642G |
probably damaging |
Het |
| Cltc |
A |
G |
11: 86,615,949 (GRCm39) |
V443A |
probably damaging |
Het |
| Csmd3 |
C |
T |
15: 47,721,356 (GRCm39) |
R1425H |
probably damaging |
Het |
| Cttnbp2 |
G |
C |
6: 18,426,092 (GRCm39) |
A762G |
possibly damaging |
Het |
| Dscam |
T |
C |
16: 96,442,064 (GRCm39) |
T1588A |
probably benign |
Het |
| Gabra4 |
A |
G |
5: 71,798,206 (GRCm39) |
M207T |
probably damaging |
Het |
| Galnt3 |
A |
G |
2: 65,926,243 (GRCm39) |
Y322H |
probably damaging |
Het |
| Glud1 |
A |
T |
14: 34,051,244 (GRCm39) |
|
probably null |
Het |
| Gm47189 |
A |
G |
14: 41,492,011 (GRCm39) |
Y89H |
probably damaging |
Het |
| Klhl1 |
A |
T |
14: 96,374,186 (GRCm39) |
M620K |
possibly damaging |
Het |
| Krt9 |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
11: 100,079,903 (GRCm39) |
|
probably benign |
Het |
| Mocs2 |
A |
G |
13: 114,957,382 (GRCm39) |
E62G |
probably damaging |
Het |
| Myh7 |
C |
G |
14: 55,226,258 (GRCm39) |
D461H |
probably damaging |
Het |
| Nek10 |
C |
T |
14: 15,001,017 (GRCm38) |
P1066S |
probably benign |
Het |
| Nfxl1 |
T |
C |
5: 72,671,632 (GRCm39) |
K876E |
possibly damaging |
Het |
| Nipsnap3a |
T |
A |
4: 52,997,279 (GRCm39) |
F182I |
probably damaging |
Het |
| Nlrc3 |
C |
T |
16: 3,783,327 (GRCm39) |
G60S |
possibly damaging |
Het |
| Notch2 |
T |
C |
3: 98,014,443 (GRCm39) |
Y666H |
probably damaging |
Het |
| Or9m1b |
T |
C |
2: 87,836,355 (GRCm39) |
I247V |
probably benign |
Het |
| Pars2 |
T |
A |
4: 106,511,276 (GRCm39) |
Y353N |
probably damaging |
Het |
| Pcdhb11 |
A |
G |
18: 37,556,962 (GRCm39) |
E764G |
probably damaging |
Het |
| Pcdhb3 |
T |
A |
18: 37,435,982 (GRCm39) |
D649E |
probably benign |
Het |
| Pde7b |
T |
G |
10: 20,319,051 (GRCm39) |
R90S |
probably damaging |
Het |
| Pik3r5 |
T |
C |
11: 68,384,483 (GRCm39) |
V625A |
probably damaging |
Het |
| Prdm9 |
G |
A |
17: 15,779,311 (GRCm39) |
R113W |
probably damaging |
Het |
| Psg26 |
A |
G |
7: 18,216,572 (GRCm39) |
V89A |
not run |
Het |
| Rad1 |
T |
C |
15: 10,493,404 (GRCm39) |
V277A |
probably benign |
Het |
| Rb1 |
A |
T |
14: 73,435,983 (GRCm39) |
L894Q |
probably damaging |
Het |
| Rorb |
A |
T |
19: 18,965,460 (GRCm39) |
C10S |
probably damaging |
Het |
| Ryk |
C |
T |
9: 102,768,432 (GRCm39) |
Q361* |
probably null |
Het |
| Serpina3b |
A |
G |
12: 104,099,223 (GRCm39) |
N246S |
probably benign |
Het |
| Srr |
A |
G |
11: 74,799,524 (GRCm39) |
V317A |
possibly damaging |
Het |
| Timd2 |
A |
T |
11: 46,561,781 (GRCm39) |
C288S |
probably benign |
Het |
| Trim62 |
T |
C |
4: 128,794,478 (GRCm39) |
V215A |
probably benign |
Het |
| Trio |
C |
G |
15: 27,749,952 (GRCm39) |
V2250L |
probably benign |
Het |
| Ubr5 |
G |
A |
15: 37,980,076 (GRCm39) |
A2434V |
probably null |
Het |
| Unc13d |
A |
T |
11: 115,967,109 (GRCm39) |
V91D |
probably damaging |
Het |
| Vmn1r159 |
T |
A |
7: 22,542,487 (GRCm39) |
I182F |
possibly damaging |
Het |
| Vmn1r230 |
T |
A |
17: 21,066,823 (GRCm39) |
V4D |
probably benign |
Het |
| Zfp27 |
T |
C |
7: 29,595,815 (GRCm39) |
Y50C |
possibly damaging |
Het |
| Zfp354c |
TCACACTCGGCACA |
TCACA |
11: 50,706,067 (GRCm39) |
|
probably benign |
Het |
| Zfp518b |
T |
C |
5: 38,829,741 (GRCm39) |
I755V |
not run |
Het |
|
| Other mutations in Tomm70a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00849:Tomm70a
|
APN |
16 |
56,970,173 (GRCm39) |
splice site |
probably benign |
|
|
IGL01064:Tomm70a
|
APN |
16 |
56,972,975 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01597:Tomm70a
|
APN |
16 |
56,953,551 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02248:Tomm70a
|
APN |
16 |
56,958,465 (GRCm39) |
missense |
probably benign |
0.33 |
|
IGL02560:Tomm70a
|
APN |
16 |
56,970,212 (GRCm39) |
missense |
probably benign |
0.33 |
|
IGL03328:Tomm70a
|
APN |
16 |
56,965,150 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03335:Tomm70a
|
APN |
16 |
56,970,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0164:Tomm70a
|
UTSW |
16 |
56,968,184 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0164:Tomm70a
|
UTSW |
16 |
56,968,184 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0196:Tomm70a
|
UTSW |
16 |
56,966,463 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0417:Tomm70a
|
UTSW |
16 |
56,970,266 (GRCm39) |
missense |
probably benign |
0.28 |
|
R0763:Tomm70a
|
UTSW |
16 |
56,942,535 (GRCm39) |
missense |
probably benign |
0.30 |
|
R1099:Tomm70a
|
UTSW |
16 |
56,963,180 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1680:Tomm70a
|
UTSW |
16 |
56,942,324 (GRCm39) |
missense |
unknown |
|
|
R2081:Tomm70a
|
UTSW |
16 |
56,961,121 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2127:Tomm70a
|
UTSW |
16 |
56,942,234 (GRCm39) |
missense |
unknown |
|
|
R3033:Tomm70a
|
UTSW |
16 |
56,942,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4287:Tomm70a
|
UTSW |
16 |
56,960,985 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5029:Tomm70a
|
UTSW |
16 |
56,942,514 (GRCm39) |
missense |
probably benign |
|
|
R5210:Tomm70a
|
UTSW |
16 |
56,953,614 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5214:Tomm70a
|
UTSW |
16 |
56,942,300 (GRCm39) |
missense |
unknown |
|
|
R5586:Tomm70a
|
UTSW |
16 |
56,942,493 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5744:Tomm70a
|
UTSW |
16 |
56,942,202 (GRCm39) |
start gained |
probably benign |
|
|
R5872:Tomm70a
|
UTSW |
16 |
56,965,105 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6256:Tomm70a
|
UTSW |
16 |
56,973,055 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6699:Tomm70a
|
UTSW |
16 |
56,963,165 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6902:Tomm70a
|
UTSW |
16 |
56,958,444 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7106:Tomm70a
|
UTSW |
16 |
56,961,121 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7378:Tomm70a
|
UTSW |
16 |
56,966,407 (GRCm39) |
nonsense |
probably null |
|
|
R8002:Tomm70a
|
UTSW |
16 |
56,957,097 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8214:Tomm70a
|
UTSW |
16 |
56,942,330 (GRCm39) |
missense |
unknown |
|
|
R8862:Tomm70a
|
UTSW |
16 |
56,942,546 (GRCm39) |
missense |
probably benign |
|
|
R9194:Tomm70a
|
UTSW |
16 |
56,973,070 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R9223:Tomm70a
|
UTSW |
16 |
56,963,166 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9242:Tomm70a
|
UTSW |
16 |
56,958,383 (GRCm39) |
splice site |
probably benign |
|
|
R9338:Tomm70a
|
UTSW |
16 |
56,942,399 (GRCm39) |
missense |
probably benign |
|
|
R9366:Tomm70a
|
UTSW |
16 |
56,970,259 (GRCm39) |
nonsense |
probably null |
|
|
R9649:Tomm70a
|
UTSW |
16 |
56,961,072 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCTGAGCATTAACTGTGACAACAG -3'
(R):5'- GCTGTAAACCCAAGAGCTGG -3'
Sequencing Primer
(F):5'- CAACAGAAGAAAAGCATGGTATAAAC -3'
(R):5'- GTCCAAGGCCAGTTACACAGTG -3'
|
| Posted On |
2019-12-03 |
Incidental Mutation