Incidental Mutation 'RF047:Tomm5'
| ID |
605041 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tomm5
|
| Ensembl Gene |
ENSMUSG00000078713 |
| Gene Name |
translocase of outer mitochondrial membrane 5 |
| Synonyms |
1110019J04Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.135)
|
| Stock # |
RF047 (G1)
|
| Quality Score |
182.468 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
45105209-45108113 bp(-) (GRCm39) |
| Type of Mutation |
small insertion (3 aa in frame mutation) |
| DNA Base Change (assembly) |
CATCTTCCG to CATCTTCCGAATCTTCCG
at 45107974 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103440
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107807]
[ENSMUST00000107808]
[ENSMUST00000107809]
[ENSMUST00000107810]
|
| AlphaFold |
B1AXP6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107807
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107808
|
| SMART Domains |
Protein: ENSMUSP00000103438
Gene: ENSMUSG00000078713
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TOM_sub5
|
1 |
47 |
9.3e-31 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107809
|
| SMART Domains |
Protein: ENSMUSP00000103439
Gene: ENSMUSG00000078713
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TOM_sub5
|
1 |
45 |
2.2e-29 |
PFAM |
|
low complexity region
|
88 |
96 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107810
|
| SMART Domains |
Protein: ENSMUSP00000103440
Gene: ENSMUSG00000078713
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TOM_sub5
|
1 |
51 |
9.1e-40 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit partial neonatal lethality, cryptogenic organizing pneumonia, intra-alveolar fibrosis, diffuse moderate eosinophilic granulocytosis in the bone marrow, and thymus atrophy. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
AAGA |
AA |
5: 8,946,595 (GRCm39) |
|
probably null |
Het |
| Ankhd1 |
CGGCGG |
CGGCGGAGGCGG |
18: 36,693,970 (GRCm39) |
|
probably benign |
Het |
| Ankhd1 |
CGGCGG |
CGGCGGAGGCGG |
18: 36,693,976 (GRCm39) |
|
probably benign |
Het |
| Cd109 |
TTATTTAT |
TTATTTATTTCTGTATTTAT |
9: 78,619,809 (GRCm39) |
|
probably benign |
Het |
| Dnah11 |
C |
A |
12: 117,973,818 (GRCm39) |
G2832V |
probably damaging |
Het |
| Dnmt1 |
GAGCACAGTTCCTACCTCGTT |
GAGCACAGTTCCTACCTCGTTTTGGGGGCGTAGCACAGTTCCTACCTCGTT |
9: 20,821,421 (GRCm39) |
|
probably null |
Het |
| Gab3 |
TCT |
TCTGCT |
X: 74,043,599 (GRCm39) |
|
probably benign |
Het |
| Gabre |
GGCTC |
GGCTCCTGCTC |
X: 71,313,659 (GRCm39) |
|
probably benign |
Het |
| Gabre |
C |
CTGGCTA |
X: 71,314,371 (GRCm39) |
|
probably null |
Het |
| Garin5a |
GAGGGAGGA |
GAGGGAGGAAGGCTGGATCCTGGATACCTGGGTCTTAGGGAGGA |
7: 44,149,953 (GRCm39) |
|
probably null |
Het |
| Garin5a |
G |
GCAGGGTGGATCCTGGATACCTGGGTCTGCGGGAGT |
7: 44,149,960 (GRCm39) |
|
probably null |
Het |
| Gm5475 |
GAAAGGTGGAAGGAAA |
GAA |
15: 100,325,037 (GRCm39) |
|
probably null |
Het |
| Iqcf4 |
CCTTTTCC |
CCTTTTCCGTTTCCTTTTCCTTTTCCTTTGCCTTTTGCTTTTCC |
9: 106,447,811 (GRCm39) |
|
probably benign |
Het |
| Kmt2c |
TGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT |
TGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT |
5: 25,520,758 (GRCm39) |
|
probably benign |
Het |
| Mamld1 |
GCA |
GCAACA |
X: 70,162,445 (GRCm39) |
|
probably benign |
Het |
| Mup21 |
TATACTT |
TATACTTTTTAGATACTT |
4: 62,067,582 (GRCm39) |
|
probably benign |
Het |
| Nefh |
GCCTCACCTGGGGACTTG |
GCCTCACCTGGGGACTTGTCCTCACCTGGGGACTTG |
11: 4,891,038 (GRCm39) |
|
probably benign |
Het |
| Plxnc1 |
C |
T |
10: 94,700,869 (GRCm39) |
C605Y |
probably damaging |
Het |
| Pnma8a |
TACCTCATGATGCACCTGCTTCAACA |
TACCTCATGATGCACCTGCTTCAACACCTCATGATGCACCTGCTTCAACA |
7: 16,695,348 (GRCm39) |
|
probably benign |
Het |
| Rasa2 |
CGC |
CGCAGC |
9: 96,513,520 (GRCm39) |
|
probably benign |
Het |
| Rbm33 |
AGCAGCA |
AGCAGCACCAGCCGCAGCA |
5: 28,599,160 (GRCm39) |
|
probably benign |
Het |
| Smarca2 |
CAGCAGCAGCAGCA |
CAGCAGCAGCAGCAGCAGCA |
19: 26,608,405 (GRCm39) |
|
probably benign |
Het |
| Strn |
GTGCTCCCTTACCCCAGTC |
GTGCTCCCTTACCCCAGTCCGTGCTCCCTTACCCCAGTCCTTGCTCCCTTACCCCAGTC |
17: 78,984,699 (GRCm39) |
|
probably null |
Het |
| Strn |
TCCCTTACCCCAGTC |
TCCCTTACCCCAGTCCGTGCTCCCTTACCCCAGTCCGTGCCCCCTTACCCCAGTC |
17: 78,984,703 (GRCm39) |
|
probably null |
Het |
| Tfeb |
GCA |
GCACCA |
17: 48,097,031 (GRCm39) |
|
probably benign |
Het |
| Tfeb |
C |
CAGA |
17: 48,097,041 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Tomm5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
FR4340:Tomm5
|
UTSW |
4 |
45,107,973 (GRCm39) |
small insertion |
probably benign |
|
|
FR4548:Tomm5
|
UTSW |
4 |
45,107,977 (GRCm39) |
small insertion |
probably benign |
|
|
R1586:Tomm5
|
UTSW |
4 |
45,107,915 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1867:Tomm5
|
UTSW |
4 |
45,107,939 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5428:Tomm5
|
UTSW |
4 |
45,106,689 (GRCm39) |
intron |
probably benign |
|
|
R5590:Tomm5
|
UTSW |
4 |
45,106,679 (GRCm39) |
intron |
probably benign |
|
|
R6825:Tomm5
|
UTSW |
4 |
45,106,443 (GRCm39) |
splice site |
probably null |
|
|
R7793:Tomm5
|
UTSW |
4 |
45,106,651 (GRCm39) |
missense |
unknown |
|
|
R7946:Tomm5
|
UTSW |
4 |
45,107,969 (GRCm39) |
missense |
probably benign |
0.18 |
|
R9154:Tomm5
|
UTSW |
4 |
45,106,724 (GRCm39) |
missense |
unknown |
|
|
R9633:Tomm5
|
UTSW |
4 |
45,107,982 (GRCm39) |
missense |
probably damaging |
0.98 |
|
RF030:Tomm5
|
UTSW |
4 |
45,107,973 (GRCm39) |
small insertion |
probably benign |
|
|
RF034:Tomm5
|
UTSW |
4 |
45,107,976 (GRCm39) |
small insertion |
probably benign |
|
|
RF036:Tomm5
|
UTSW |
4 |
45,107,973 (GRCm39) |
small insertion |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGACTTAACCACGCGTCCTC -3'
(R):5'- GTTCCCGTCACAGGACAGAAAC -3'
Sequencing Primer
(F):5'- CCAGAGTGTGCGCAGTTG -3'
(R):5'- CGTCACAGGACAGAAACAAGGG -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation