Incidental Mutation 'IGL02548:Tomm40l'
| ID |
297951 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tomm40l
|
| Ensembl Gene |
ENSMUSG00000005674 |
| Gene Name |
translocase of outer mitochondrial membrane 40-like |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.267)
|
| Stock # |
IGL02548
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
171043579-171050020 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
G to A
at 171049216 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137683
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005817]
[ENSMUST00000005820]
[ENSMUST00000005824]
[ENSMUST00000075469]
[ENSMUST00000111319]
[ENSMUST00000111320]
[ENSMUST00000111321]
[ENSMUST00000111326]
[ENSMUST00000147246]
[ENSMUST00000138184]
[ENSMUST00000111327]
[ENSMUST00000133075]
[ENSMUST00000111328]
[ENSMUST00000143405]
[ENSMUST00000155126]
|
| AlphaFold |
Q9CZR3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000005817
|
| SMART Domains |
Protein: ENSMUSP00000005817
Gene: ENSMUSG00000005674
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Porin_3
|
26 |
302 |
7.2e-76 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000005820
|
| SMART Domains |
Protein: ENSMUSP00000005820
Gene: ENSMUSG00000005677
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C4
|
18 |
89 |
6.98e-35 |
SMART |
|
low complexity region
|
94 |
110 |
N/A |
INTRINSIC |
|
HOLI
|
173 |
333 |
5.55e-29 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000005824
|
| SMART Domains |
Protein: ENSMUSP00000005824
Gene: ENSMUSG00000005681
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:ApoA-II
|
24 |
99 |
4.2e-48 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000075469
|
| SMART Domains |
Protein: ENSMUSP00000074915
Gene: ENSMUSG00000005677
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C4
|
18 |
89 |
6.98e-35 |
SMART |
|
low complexity region
|
94 |
110 |
N/A |
INTRINSIC |
|
HOLI
|
173 |
285 |
8.9e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111319
|
| SMART Domains |
Protein: ENSMUSP00000106951
Gene: ENSMUSG00000005681
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:ApoA-II
|
24 |
98 |
2.1e-43 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111320
|
| SMART Domains |
Protein: ENSMUSP00000106952
Gene: ENSMUSG00000005681
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:ApoA-II
|
24 |
99 |
4.2e-48 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111321
|
| SMART Domains |
Protein: ENSMUSP00000106953
Gene: ENSMUSG00000005681
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:ApoA-II
|
24 |
99 |
4.2e-48 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111326
|
| SMART Domains |
Protein: ENSMUSP00000106958
Gene: ENSMUSG00000005674
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Porin_3
|
26 |
95 |
9e-16 |
PFAM |
|
Pfam:Porin_3
|
85 |
268 |
1.4e-49 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130529
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154106
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147246
|
| SMART Domains |
Protein: ENSMUSP00000119006
Gene: ENSMUSG00000005674
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Porin_3
|
26 |
91 |
5e-16 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138184
|
| SMART Domains |
Protein: ENSMUSP00000115877
Gene: ENSMUSG00000005674
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Porin_3
|
26 |
119 |
1.5e-20 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111327
|
| SMART Domains |
Protein: ENSMUSP00000106959
Gene: ENSMUSG00000005674
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Porin_3
|
26 |
302 |
3.4e-68 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152865
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149404
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137298
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133075
|
| SMART Domains |
Protein: ENSMUSP00000137852
Gene: ENSMUSG00000005677
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C4
|
18 |
58 |
1.68e-3 |
SMART |
|
low complexity region
|
80 |
93 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111328
|
| SMART Domains |
Protein: ENSMUSP00000106960
Gene: ENSMUSG00000005677
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C4
|
18 |
89 |
6.98e-35 |
SMART |
|
low complexity region
|
94 |
110 |
N/A |
INTRINSIC |
|
HOLI
|
173 |
332 |
5.55e-29 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143405
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155126
|
| SMART Domains |
Protein: ENSMUSP00000137683
Gene: ENSMUSG00000005677
| Domain | Start | End | E-Value | Type |
|---|
|
HOLI
|
36 |
196 |
5.55e-29 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc6 |
G |
A |
7: 45,654,686 (GRCm39) |
A545V |
probably damaging |
Het |
| Adam29 |
A |
T |
8: 56,325,902 (GRCm39) |
L184* |
probably null |
Het |
| Ap1g1 |
C |
T |
8: 110,576,254 (GRCm39) |
A432V |
probably damaging |
Het |
| Atrn |
C |
T |
2: 130,814,202 (GRCm39) |
T716I |
probably damaging |
Het |
| Bahd1 |
C |
A |
2: 118,747,526 (GRCm39) |
Q382K |
possibly damaging |
Het |
| Barhl2 |
A |
G |
5: 106,603,391 (GRCm39) |
V256A |
probably benign |
Het |
| Camta2 |
A |
G |
11: 70,561,511 (GRCm39) |
F1113L |
probably damaging |
Het |
| Cdh23 |
G |
T |
10: 60,485,901 (GRCm39) |
T38K |
probably benign |
Het |
| Cmtm3 |
T |
C |
8: 105,071,437 (GRCm39) |
L111P |
probably damaging |
Het |
| Col27a1 |
T |
C |
4: 63,236,492 (GRCm39) |
|
probably benign |
Het |
| Cyp2c29 |
G |
A |
19: 39,279,291 (GRCm39) |
G96D |
possibly damaging |
Het |
| Flt1 |
C |
A |
5: 147,576,058 (GRCm39) |
R650L |
probably benign |
Het |
| Fpr1 |
T |
A |
17: 18,096,915 (GRCm39) |
E358V |
probably benign |
Het |
| Ggnbp2 |
A |
T |
11: 84,753,112 (GRCm39) |
N42K |
possibly damaging |
Het |
| Gldc |
T |
C |
19: 30,077,299 (GRCm39) |
T958A |
probably benign |
Het |
| Gm3573 |
A |
G |
14: 42,009,452 (GRCm39) |
|
probably null |
Het |
| Hspbp1 |
T |
C |
7: 4,684,840 (GRCm39) |
|
probably benign |
Het |
| Jhy |
G |
T |
9: 40,828,471 (GRCm39) |
Y478* |
probably null |
Het |
| Kiz |
A |
G |
2: 146,712,690 (GRCm39) |
E118G |
probably damaging |
Het |
| Klhdc1 |
A |
G |
12: 69,300,492 (GRCm39) |
Y144C |
probably benign |
Het |
| Lamc3 |
A |
T |
2: 31,810,674 (GRCm39) |
Y848F |
probably benign |
Het |
| Mixl1 |
T |
C |
1: 180,522,269 (GRCm39) |
E204G |
probably benign |
Het |
| Muc2 |
T |
A |
7: 141,305,594 (GRCm39) |
C202S |
probably damaging |
Het |
| Nfatc1 |
T |
C |
18: 80,741,113 (GRCm39) |
S282G |
probably damaging |
Het |
| Or2j6 |
T |
A |
7: 139,980,575 (GRCm39) |
Y128F |
probably damaging |
Het |
| Or5b111 |
T |
C |
19: 13,291,302 (GRCm39) |
M116V |
probably damaging |
Het |
| Or5k8 |
C |
A |
16: 58,644,691 (GRCm39) |
C127F |
probably benign |
Het |
| Orc2 |
A |
T |
1: 58,505,281 (GRCm39) |
|
probably benign |
Het |
| Pcdhb10 |
T |
C |
18: 37,545,743 (GRCm39) |
I273T |
probably benign |
Het |
| Pdzph1 |
G |
A |
17: 59,280,386 (GRCm39) |
T632I |
probably benign |
Het |
| Phf1 |
A |
G |
17: 27,154,600 (GRCm39) |
Y225C |
probably damaging |
Het |
| Pramel17 |
T |
A |
4: 101,692,770 (GRCm39) |
Y410F |
probably damaging |
Het |
| Prcp |
T |
C |
7: 92,550,382 (GRCm39) |
F60L |
probably damaging |
Het |
| Psg21 |
C |
T |
7: 18,388,961 (GRCm39) |
V44I |
possibly damaging |
Het |
| Ptgdr |
C |
T |
14: 45,096,071 (GRCm39) |
V214M |
probably damaging |
Het |
| Pth1r |
G |
A |
9: 110,556,748 (GRCm39) |
R181W |
probably damaging |
Het |
| Ralgapb |
A |
G |
2: 158,286,585 (GRCm39) |
I343M |
probably damaging |
Het |
| Retreg1 |
C |
T |
15: 25,895,204 (GRCm39) |
Q128* |
probably null |
Het |
| Rrbp1 |
T |
C |
2: 143,791,679 (GRCm39) |
|
probably benign |
Het |
| Skint5 |
T |
A |
4: 113,588,273 (GRCm39) |
M726L |
unknown |
Het |
| Slc6a18 |
T |
C |
13: 73,818,114 (GRCm39) |
Y301C |
probably damaging |
Het |
| Slc8a3 |
G |
A |
12: 81,250,930 (GRCm39) |
|
probably benign |
Het |
| Tacr3 |
C |
A |
3: 134,535,232 (GRCm39) |
Q67K |
probably damaging |
Het |
| Tfrc |
A |
T |
16: 32,443,640 (GRCm39) |
K534* |
probably null |
Het |
| Timp3 |
T |
A |
10: 86,174,315 (GRCm39) |
M67K |
probably benign |
Het |
| Tmem120a |
C |
T |
5: 135,765,628 (GRCm39) |
E179K |
probably damaging |
Het |
| Tubal3 |
A |
G |
13: 3,980,554 (GRCm39) |
R89G |
probably benign |
Het |
| Wdr35 |
A |
T |
12: 9,074,297 (GRCm39) |
N976I |
probably benign |
Het |
| Zfp292 |
T |
C |
4: 34,805,416 (GRCm39) |
T2543A |
probably damaging |
Het |
| Zfp976 |
T |
A |
7: 42,261,953 (GRCm39) |
H628L |
unknown |
Het |
| Zmynd8 |
A |
G |
2: 165,675,325 (GRCm39) |
V301A |
probably damaging |
Het |
|
| Other mutations in Tomm40l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01086:Tomm40l
|
APN |
1 |
171,047,878 (GRCm39) |
splice site |
probably null |
|
|
IGL01996:Tomm40l
|
APN |
1 |
171,047,224 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02237:Tomm40l
|
APN |
1 |
171,048,463 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1612:Tomm40l
|
UTSW |
1 |
171,049,471 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2164:Tomm40l
|
UTSW |
1 |
171,047,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2219:Tomm40l
|
UTSW |
1 |
171,049,550 (GRCm39) |
nonsense |
probably null |
|
|
R2220:Tomm40l
|
UTSW |
1 |
171,049,550 (GRCm39) |
nonsense |
probably null |
|
|
R3083:Tomm40l
|
UTSW |
1 |
171,048,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4748:Tomm40l
|
UTSW |
1 |
171,047,131 (GRCm39) |
nonsense |
probably null |
|
|
R4749:Tomm40l
|
UTSW |
1 |
171,047,131 (GRCm39) |
nonsense |
probably null |
|
|
R6358:Tomm40l
|
UTSW |
1 |
171,047,206 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R6457:Tomm40l
|
UTSW |
1 |
171,048,161 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8394:Tomm40l
|
UTSW |
1 |
171,048,776 (GRCm39) |
missense |
probably damaging |
0.97 |
|
X0026:Tomm40l
|
UTSW |
1 |
171,049,144 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Tomm40l
|
UTSW |
1 |
171,048,217 (GRCm39) |
missense |
probably benign |
0.33 |
|
| Posted On |
2015-04-16 |
Incidental Mutation