Incidental Mutation 'R4506:Tomm34'
| ID |
332002 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tomm34
|
| Ensembl Gene |
ENSMUSG00000018322 |
| Gene Name |
translocase of outer mitochondrial membrane 34 |
| Synonyms |
TOM34, 2610100K07Rik |
| MMRRC Submission |
041584-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.151)
|
| Stock # |
R4506 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
163895460-163913089 bp(-) (GRCm39) |
| Type of Mutation |
splice site (3834 bp from exon) |
| DNA Base Change (assembly) |
C to A
at 163896292 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096701
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018466]
[ENSMUST00000067715]
[ENSMUST00000109384]
|
| AlphaFold |
Q9CYG7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018466
|
| SMART Domains |
Protein: ENSMUSP00000018466
Gene: ENSMUSG00000018322
| Domain | Start | End | E-Value | Type |
|---|
|
TPR
|
9 |
42 |
1.4e1 |
SMART |
|
TPR
|
51 |
84 |
4.21e-3 |
SMART |
|
TPR
|
85 |
118 |
2.55e-2 |
SMART |
|
low complexity region
|
167 |
182 |
N/A |
INTRINSIC |
|
TPR
|
193 |
226 |
1.56e1 |
SMART |
|
TPR
|
227 |
260 |
5.51e-7 |
SMART |
|
TPR
|
261 |
294 |
3.67e-3 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000067715
|
| SMART Domains |
Protein: ENSMUSP00000096701
Gene: ENSMUSG00000054582
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
12 |
85 |
2.3e-23 |
SMART |
|
RRM
|
100 |
171 |
1.84e-22 |
SMART |
|
RRM
|
192 |
264 |
2.31e-28 |
SMART |
|
RRM
|
295 |
366 |
7.07e-24 |
SMART |
|
SCOP:d1g9la_
|
425 |
478 |
1e-6 |
SMART |
|
PolyA
|
535 |
598 |
8.33e-27 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109384
|
| SMART Domains |
Protein: ENSMUSP00000105010
Gene: ENSMUSG00000018322
| Domain | Start | End | E-Value | Type |
|---|
|
TPR
|
9 |
42 |
1.73e1 |
SMART |
|
TPR
|
51 |
84 |
4.21e-3 |
SMART |
|
TPR
|
85 |
118 |
2.55e-2 |
SMART |
|
low complexity region
|
167 |
182 |
N/A |
INTRINSIC |
|
TPR
|
193 |
226 |
1.56e1 |
SMART |
|
TPR
|
227 |
260 |
5.51e-7 |
SMART |
|
TPR
|
261 |
294 |
3.67e-3 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126272
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132602
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150523
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
98% (42/43) |
| 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 involved in the import of precursor proteins into mitochondria. The encoded protein has a chaperone-like activity, binding the mature portion of unfolded proteins and aiding their import into mitochondria. This protein, which is found in the cytoplasm and sometimes associated with the outer mitochondrial membrane, has a weak ATPase activity and contains 6 TPR repeats. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice are fertile and males do not display any defects in the testes or in spermatogenesis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
G |
T |
11: 109,685,087 (GRCm39) |
P137T |
probably damaging |
Het |
| Abcc5 |
A |
T |
16: 20,152,445 (GRCm39) |
I1367N |
probably damaging |
Het |
| Ace |
T |
A |
11: 105,867,492 (GRCm39) |
L152Q |
probably damaging |
Het |
| Adam19 |
G |
A |
11: 46,009,271 (GRCm39) |
D232N |
possibly damaging |
Het |
| Anapc4 |
A |
T |
5: 52,993,072 (GRCm39) |
N61I |
possibly damaging |
Het |
| Ap5m1 |
T |
C |
14: 49,311,218 (GRCm39) |
V96A |
probably damaging |
Het |
| Atr |
T |
A |
9: 95,747,290 (GRCm39) |
C191S |
probably benign |
Het |
| Carmil3 |
GGACGA |
GGA |
14: 55,736,933 (GRCm39) |
|
probably benign |
Het |
| Cnot6l |
A |
T |
5: 96,234,033 (GRCm39) |
V326E |
possibly damaging |
Het |
| Fcer2a |
A |
T |
8: 3,738,603 (GRCm39) |
|
probably null |
Het |
| Fgfr3 |
A |
G |
5: 33,887,343 (GRCm39) |
T221A |
probably damaging |
Het |
| Gm6632 |
C |
T |
5: 59,211,821 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr158 |
T |
A |
2: 21,831,810 (GRCm39) |
M970K |
probably damaging |
Het |
| H2-T5 |
A |
T |
17: 36,472,372 (GRCm39) |
|
probably benign |
Het |
| Ip6k3 |
A |
T |
17: 27,364,154 (GRCm39) |
L298Q |
possibly damaging |
Het |
| Itpr1 |
A |
G |
6: 108,409,647 (GRCm39) |
D1727G |
probably damaging |
Het |
| Kdm2b |
T |
C |
5: 123,026,688 (GRCm39) |
T589A |
possibly damaging |
Het |
| Krtcap2 |
A |
G |
3: 89,153,563 (GRCm39) |
|
probably benign |
Het |
| Map3k13 |
A |
G |
16: 21,740,928 (GRCm39) |
S752G |
probably benign |
Het |
| Mvb12a |
G |
T |
8: 71,996,103 (GRCm39) |
A86S |
probably benign |
Het |
| Nktr |
T |
A |
9: 121,577,949 (GRCm39) |
|
probably benign |
Het |
| Or1e33 |
A |
T |
11: 73,738,521 (GRCm39) |
C143* |
probably null |
Het |
| Or8a1b |
C |
T |
9: 37,622,760 (GRCm39) |
V272I |
probably benign |
Het |
| Parp4 |
T |
A |
14: 56,889,761 (GRCm39) |
N1847K |
unknown |
Het |
| Pcdhga8 |
G |
C |
18: 37,949,816 (GRCm39) |
V411L |
probably damaging |
Het |
| Piwil4 |
T |
C |
9: 14,637,259 (GRCm39) |
T352A |
probably damaging |
Het |
| Ric8a |
A |
G |
7: 140,438,429 (GRCm39) |
I223V |
probably benign |
Het |
| Slc25a51 |
C |
T |
4: 45,399,768 (GRCm39) |
V141M |
probably benign |
Het |
| Slc7a5 |
A |
T |
8: 122,614,234 (GRCm39) |
|
probably null |
Het |
| Slc7a9 |
A |
T |
7: 35,152,845 (GRCm39) |
T88S |
probably damaging |
Het |
| Tbrg1 |
T |
A |
9: 37,565,691 (GRCm39) |
E87V |
probably damaging |
Het |
| Tnfsf4 |
T |
C |
1: 161,244,745 (GRCm39) |
S145P |
probably damaging |
Het |
| Trpv3 |
A |
G |
11: 73,186,150 (GRCm39) |
N647S |
probably benign |
Het |
| Upf1 |
G |
A |
8: 70,790,216 (GRCm39) |
R637C |
probably damaging |
Het |
| Vmn2r23 |
A |
T |
6: 123,679,884 (GRCm39) |
Q35H |
probably damaging |
Het |
| Wdtc1 |
C |
T |
4: 133,036,130 (GRCm39) |
V137M |
probably damaging |
Het |
| Zfp276 |
G |
A |
8: 123,991,666 (GRCm39) |
|
probably null |
Het |
| Zfp90 |
C |
T |
8: 107,151,496 (GRCm39) |
P403L |
possibly damaging |
Het |
|
| Other mutations in Tomm34 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00425:Tomm34
|
APN |
2 |
163,900,582 (GRCm39) |
splice site |
probably benign |
|
|
IGL02426:Tomm34
|
APN |
2 |
163,906,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0744:Tomm34
|
UTSW |
2 |
163,912,896 (GRCm39) |
missense |
probably benign |
0.34 |
|
R1938:Tomm34
|
UTSW |
2 |
163,902,926 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4541:Tomm34
|
UTSW |
2 |
163,896,719 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4869:Tomm34
|
UTSW |
2 |
163,896,637 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5080:Tomm34
|
UTSW |
2 |
163,912,816 (GRCm39) |
intron |
probably benign |
|
|
R6106:Tomm34
|
UTSW |
2 |
163,902,911 (GRCm39) |
missense |
probably benign |
|
|
R7037:Tomm34
|
UTSW |
2 |
163,912,398 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8746:Tomm34
|
UTSW |
2 |
163,902,884 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8857:Tomm34
|
UTSW |
2 |
163,896,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9175:Tomm34
|
UTSW |
2 |
163,912,385 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGTGTTGACAAGGGCCAG -3'
(R):5'- GCAGCTGTCATCTGTCTGTC -3'
Sequencing Primer
(F):5'- ACAAAAACCTCTAGTGGGGAC -3'
(R):5'- AGCTGTCATCTGTCTGTCCATCC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation