Incidental Mutation 'R8419:Tomm40'
| ID |
653087 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tomm40
|
| Ensembl Gene |
ENSMUSG00000002984 |
| Gene Name |
translocase of outer mitochondrial membrane 40 |
| Synonyms |
Tom40 |
| MMRRC Submission |
067772-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8419 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
19435238-19449363 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 19435759 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 324
(V324M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104090
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003066]
[ENSMUST00000032555]
[ENSMUST00000093552]
[ENSMUST00000172705]
[ENSMUST00000172808]
[ENSMUST00000172983]
[ENSMUST00000174710]
[ENSMUST00000174355]
[ENSMUST00000173739]
[ENSMUST00000174144]
[ENSMUST00000174064]
[ENSMUST00000174191]
|
| AlphaFold |
Q9QYA2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003066
|
| SMART Domains |
Protein: ENSMUSP00000003066
Gene: ENSMUSG00000002985
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:Apolipoprotein
|
72 |
291 |
3.8e-65 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032555
AA Change: V324M
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000032555
Gene: ENSMUSG00000002984
AA Change: V324M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
69 |
N/A |
INTRINSIC |
|
Pfam:Porin_3
|
79 |
355 |
7.7e-85 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000093552
AA Change: V324M
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000104090
Gene: ENSMUSG00000002984
AA Change: V324M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
69 |
N/A |
INTRINSIC |
|
Pfam:Porin_3
|
79 |
355 |
1.5e-81 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167646
|
| SMART Domains |
Protein: ENSMUSP00000132032
Gene: ENSMUSG00000002985
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:Apolipoprotein
|
72 |
201 |
1.9e-46 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172705
|
| SMART Domains |
Protein: ENSMUSP00000133975
Gene: ENSMUSG00000002984
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Porin_3
|
1 |
61 |
3.9e-18 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172808
|
| SMART Domains |
Protein: ENSMUSP00000134558
Gene: ENSMUSG00000002985
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
14 |
N/A |
INTRINSIC |
|
Pfam:Apolipoprotein
|
61 |
146 |
8.5e-31 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172983
|
| SMART Domains |
Protein: ENSMUSP00000133359
Gene: ENSMUSG00000002985
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:Apolipoprotein
|
72 |
232 |
1.3e-48 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208286
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207525
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174476
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174710
|
| SMART Domains |
Protein: ENSMUSP00000134429
Gene: ENSMUSG00000002985
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
PDB:1YA9|A
|
20 |
70 |
8e-31 |
PDB |
|
SCOP:d1nfn__
|
34 |
70 |
5e-9 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174355
|
| SMART Domains |
Protein: ENSMUSP00000134160
Gene: ENSMUSG00000002985
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:Apolipoprotein
|
72 |
291 |
3.8e-65 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173739
|
| SMART Domains |
Protein: ENSMUSP00000133371
Gene: ENSMUSG00000002985
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:Apolipoprotein
|
72 |
291 |
3.8e-65 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174144
|
| SMART Domains |
Protein: ENSMUSP00000134622
Gene: ENSMUSG00000002985
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:Apolipoprotein
|
72 |
232 |
1.3e-48 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174064
|
| SMART Domains |
Protein: ENSMUSP00000133302
Gene: ENSMUSG00000002985
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:Apolipoprotein
|
73 |
284 |
2e-59 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174191
|
| SMART Domains |
Protein: ENSMUSP00000133447
Gene: ENSMUSG00000002985
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
PDB:1YA9|A
|
20 |
70 |
8e-31 |
PDB |
|
SCOP:d1nfn__
|
34 |
70 |
5e-9 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is localized in the outer membrane of the mitochondria. It is the channel-forming subunit of the translocase of the mitochondrial outer membrane (TOM) complex that is essential for import of protein precursors into mitochondria. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik2 |
A |
T |
11: 48,910,312 (GRCm39) |
I707N |
probably damaging |
Het |
| Abca14 |
A |
G |
7: 119,815,489 (GRCm39) |
I246V |
probably benign |
Het |
| Adam19 |
G |
A |
11: 46,015,850 (GRCm39) |
A337T |
possibly damaging |
Het |
| Ankrd40 |
G |
T |
11: 94,225,662 (GRCm39) |
G231V |
probably damaging |
Het |
| Arhgap5 |
G |
A |
12: 52,565,572 (GRCm39) |
V848I |
probably damaging |
Het |
| Bmpr2 |
G |
A |
1: 59,906,515 (GRCm39) |
R536H |
probably damaging |
Het |
| Casz1 |
T |
A |
4: 149,033,040 (GRCm39) |
S1310T |
probably benign |
Het |
| Chi3l1 |
A |
T |
1: 134,117,280 (GRCm39) |
D367V |
probably damaging |
Het |
| Cltc |
A |
G |
11: 86,598,392 (GRCm39) |
V990A |
probably benign |
Het |
| Col6a3 |
A |
T |
1: 90,729,935 (GRCm39) |
S1790R |
probably damaging |
Het |
| Comt |
C |
T |
16: 18,230,637 (GRCm39) |
W24* |
probably null |
Het |
| Cyp2c70 |
T |
C |
19: 40,149,024 (GRCm39) |
E374G |
possibly damaging |
Het |
| Dach1 |
T |
C |
14: 98,406,076 (GRCm39) |
T224A |
probably damaging |
Het |
| Dapk1 |
G |
A |
13: 60,887,911 (GRCm39) |
E656K |
probably benign |
Het |
| Dicer1 |
A |
G |
12: 104,668,936 (GRCm39) |
S1249P |
probably benign |
Het |
| Dpp8 |
A |
C |
9: 64,988,037 (GRCm39) |
I861L |
probably benign |
Het |
| Enam |
C |
T |
5: 88,651,209 (GRCm39) |
S906L |
possibly damaging |
Het |
| Eral1 |
A |
T |
11: 77,964,906 (GRCm39) |
I429N |
possibly damaging |
Het |
| Fbxo10 |
C |
A |
4: 45,041,809 (GRCm39) |
G807C |
possibly damaging |
Het |
| Fcgbpl1 |
G |
T |
7: 27,843,346 (GRCm39) |
G745C |
probably damaging |
Het |
| Fsip2 |
G |
C |
2: 82,808,963 (GRCm39) |
E1761Q |
probably damaging |
Het |
| Ggnbp2 |
C |
T |
11: 84,728,815 (GRCm39) |
|
probably null |
Het |
| Gm4353 |
G |
A |
7: 115,682,784 (GRCm39) |
P266S |
probably benign |
Het |
| Gpr84 |
T |
C |
15: 103,217,963 (GRCm39) |
N38S |
probably damaging |
Het |
| Guca1a |
A |
T |
17: 47,706,480 (GRCm39) |
I115N |
probably damaging |
Het |
| Hic1 |
C |
T |
11: 75,057,096 (GRCm39) |
V598M |
possibly damaging |
Het |
| Itga1 |
A |
T |
13: 115,143,604 (GRCm39) |
I309N |
probably damaging |
Het |
| Itga11 |
T |
C |
9: 62,662,460 (GRCm39) |
S478P |
possibly damaging |
Het |
| Kctd8 |
T |
C |
5: 69,497,713 (GRCm39) |
D311G |
probably damaging |
Het |
| Klhl32 |
T |
C |
4: 24,682,203 (GRCm39) |
E127G |
possibly damaging |
Het |
| Lama2 |
T |
A |
10: 27,298,559 (GRCm39) |
Y179F |
probably benign |
Het |
| Lamb2 |
G |
T |
9: 108,365,563 (GRCm39) |
R1382L |
probably benign |
Het |
| Mrpl1 |
C |
G |
5: 96,374,226 (GRCm39) |
A167G |
probably benign |
Het |
| Muc17 |
A |
T |
5: 137,175,570 (GRCm39) |
N33K |
|
Het |
| Myt1 |
A |
T |
2: 181,424,399 (GRCm39) |
R31* |
probably null |
Het |
| Nectin2 |
T |
C |
7: 19,451,646 (GRCm39) |
T463A |
probably benign |
Het |
| Nectin2 |
A |
T |
7: 19,472,003 (GRCm39) |
Y129N |
probably damaging |
Het |
| Or12d13 |
A |
G |
17: 37,647,466 (GRCm39) |
I219T |
possibly damaging |
Het |
| Or4k47 |
A |
T |
2: 111,451,849 (GRCm39) |
M190K |
probably benign |
Het |
| Papolb |
T |
A |
5: 142,514,296 (GRCm39) |
N449I |
possibly damaging |
Het |
| Parn |
T |
C |
16: 13,466,338 (GRCm39) |
K236R |
probably benign |
Het |
| Pramel22 |
A |
G |
4: 143,382,997 (GRCm39) |
I74T |
probably damaging |
Het |
| Prelid1 |
G |
A |
13: 55,470,698 (GRCm39) |
R42Q |
probably damaging |
Het |
| Prelp |
A |
G |
1: 133,843,020 (GRCm39) |
F42L |
probably benign |
Het |
| Pygo1 |
C |
T |
9: 72,852,380 (GRCm39) |
P189L |
probably damaging |
Het |
| Rimbp3 |
T |
A |
16: 17,030,886 (GRCm39) |
S1437T |
probably damaging |
Het |
| Slc37a2 |
T |
A |
9: 37,148,726 (GRCm39) |
D252V |
probably benign |
Het |
| Socs7 |
A |
G |
11: 97,254,165 (GRCm39) |
K233R |
probably benign |
Het |
| Spopfm2 |
T |
C |
3: 94,082,921 (GRCm39) |
I297V |
probably benign |
Het |
| Stat4 |
A |
G |
1: 52,137,637 (GRCm39) |
D476G |
possibly damaging |
Het |
| Tesmin |
A |
G |
19: 3,439,077 (GRCm39) |
D43G |
probably benign |
Het |
| Thap1 |
C |
A |
8: 26,648,502 (GRCm39) |
Y8* |
probably null |
Het |
| Tln1 |
A |
G |
4: 43,536,397 (GRCm39) |
L1965P |
probably damaging |
Het |
| Tmprss11d |
A |
G |
5: 86,457,165 (GRCm39) |
S303P |
probably damaging |
Het |
| Vmn1r202 |
A |
T |
13: 22,685,985 (GRCm39) |
I144K |
probably damaging |
Het |
|
| Other mutations in Tomm40 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01712:Tomm40
|
APN |
7 |
19,437,288 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL01766:Tomm40
|
APN |
7 |
19,437,007 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02831:Tomm40
|
APN |
7 |
19,437,014 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03178:Tomm40
|
APN |
7 |
19,435,759 (GRCm39) |
missense |
probably damaging |
0.98 |
|
PIT4131001:Tomm40
|
UTSW |
7 |
19,437,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0280:Tomm40
|
UTSW |
7 |
19,447,676 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1842:Tomm40
|
UTSW |
7 |
19,447,650 (GRCm39) |
missense |
probably benign |
0.41 |
|
R1913:Tomm40
|
UTSW |
7 |
19,444,886 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3702:Tomm40
|
UTSW |
7 |
19,447,598 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4685:Tomm40
|
UTSW |
7 |
19,435,761 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5165:Tomm40
|
UTSW |
7 |
19,447,592 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5380:Tomm40
|
UTSW |
7 |
19,435,675 (GRCm39) |
missense |
probably benign |
0.27 |
|
R6026:Tomm40
|
UTSW |
7 |
19,444,889 (GRCm39) |
missense |
probably benign |
0.43 |
|
R6236:Tomm40
|
UTSW |
7 |
19,437,281 (GRCm39) |
missense |
probably benign |
0.15 |
|
R6994:Tomm40
|
UTSW |
7 |
19,436,831 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7206:Tomm40
|
UTSW |
7 |
19,444,861 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7530:Tomm40
|
UTSW |
7 |
19,436,829 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8698:Tomm40
|
UTSW |
7 |
19,444,890 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8709:Tomm40
|
UTSW |
7 |
19,444,703 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R9525:Tomm40
|
UTSW |
7 |
19,436,812 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Tomm40
|
UTSW |
7 |
19,437,019 (GRCm39) |
missense |
probably benign |
0.21 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAATGCCCTTCAGATCCCAG -3'
(R):5'- CGGTGTTGAGCCACTTAAAGG -3'
Sequencing Primer
(F):5'- GCCCTTCAGATCCCAGGACTC -3'
(R):5'- TGAGCCACTTAAAGGGTTGC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation