Incidental Mutation 'R1317:Tom1'
| ID |
157567 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tom1
|
| Ensembl Gene |
ENSMUSG00000042870 |
| Gene Name |
target of myb1 trafficking protein |
| Synonyms |
|
| MMRRC Submission |
039383-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.070)
|
| Stock # |
R1317 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
75760333-75796749 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 75778179 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 87
(V87A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077891
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078847]
[ENSMUST00000165630]
[ENSMUST00000211869]
[ENSMUST00000212299]
[ENSMUST00000212388]
[ENSMUST00000212564]
[ENSMUST00000212651]
|
| AlphaFold |
O88746 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000078847
AA Change: V87A
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000077891
Gene: ENSMUSG00000042870
AA Change: V87A
| Domain | Start | End | E-Value | Type |
|---|
|
VHS
|
13 |
148 |
4.03e-68 |
SMART |
|
Pfam:GAT
|
228 |
303 |
1.7e-24 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165630
AA Change: V87A
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000130854
Gene: ENSMUSG00000042870
AA Change: V87A
| Domain | Start | End | E-Value | Type |
|---|
|
VHS
|
13 |
148 |
4.03e-68 |
SMART |
|
Pfam:GAT
|
212 |
312 |
5.1e-36 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211869
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211938
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212299
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212388
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212564
AA Change: Y61H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212651
|
| Meta Mutation Damage Score |
0.0752 |
| Coding Region Coverage |
- 1x: 98.7%
- 3x: 97.5%
- 10x: 93.7%
- 20x: 84.9%
|
| Validation Efficiency |
100% (42/42) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene was identified as a target of the v-myb oncogene. The encoded protein shares its N-terminal domain in common with proteins associated with vesicular trafficking at the endosome. It is recruited to the endosomes by its interaction with endofin. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi3bp |
C |
T |
16: 56,488,672 (GRCm39) |
H1268Y |
possibly damaging |
Het |
| Afdn |
A |
G |
17: 14,066,535 (GRCm39) |
T576A |
probably benign |
Het |
| Bcl6 |
G |
T |
16: 23,796,292 (GRCm39) |
A45D |
probably damaging |
Het |
| Ccdc7b |
A |
T |
8: 129,863,127 (GRCm39) |
H223L |
probably benign |
Het |
| Cdh15 |
G |
C |
8: 123,584,234 (GRCm39) |
E112Q |
probably damaging |
Het |
| Cryba2 |
G |
T |
1: 74,929,835 (GRCm39) |
|
probably null |
Het |
| Depdc1a |
T |
C |
3: 159,228,924 (GRCm39) |
C559R |
probably damaging |
Het |
| Fam20a |
A |
T |
11: 109,568,664 (GRCm39) |
N287K |
probably damaging |
Het |
| Gm5519 |
T |
C |
19: 33,802,391 (GRCm39) |
Y145H |
possibly damaging |
Het |
| Gm9602 |
T |
A |
14: 15,932,645 (GRCm39) |
I28N |
probably damaging |
Het |
| Gmeb1 |
G |
A |
4: 131,962,198 (GRCm39) |
Q154* |
probably null |
Het |
| Gpr156 |
T |
C |
16: 37,807,929 (GRCm39) |
L192P |
probably damaging |
Het |
| Hnrnpu |
G |
A |
1: 178,157,822 (GRCm39) |
|
probably benign |
Het |
| Ifi209 |
A |
G |
1: 173,465,029 (GRCm39) |
D53G |
possibly damaging |
Het |
| Irf6 |
G |
A |
1: 192,851,609 (GRCm39) |
R400H |
probably damaging |
Het |
| Jag2 |
T |
A |
12: 112,878,121 (GRCm39) |
M537L |
probably benign |
Het |
| Mid1 |
A |
C |
X: 168,769,090 (GRCm39) |
N215H |
probably damaging |
Het |
| Mt1 |
T |
C |
8: 94,906,781 (GRCm39) |
|
probably benign |
Het |
| Myo15b |
C |
A |
11: 115,774,460 (GRCm39) |
P2024Q |
probably null |
Het |
| Nphs1 |
C |
T |
7: 30,181,256 (GRCm39) |
|
probably benign |
Het |
| Rbm27 |
G |
A |
18: 42,457,116 (GRCm39) |
|
probably benign |
Het |
| Robo2 |
A |
G |
16: 73,831,912 (GRCm39) |
V256A |
probably damaging |
Het |
| Rps24 |
A |
G |
14: 24,541,830 (GRCm39) |
T6A |
probably damaging |
Het |
| Scg3 |
G |
A |
9: 75,576,622 (GRCm39) |
T251M |
probably damaging |
Het |
| Slc25a23 |
T |
C |
17: 57,360,888 (GRCm39) |
K179E |
possibly damaging |
Het |
| Smad5 |
T |
C |
13: 56,883,884 (GRCm39) |
|
probably benign |
Het |
| Trim30b |
T |
A |
7: 104,006,542 (GRCm39) |
T105S |
possibly damaging |
Het |
| Tspan32 |
A |
G |
7: 142,571,328 (GRCm39) |
M159V |
probably benign |
Het |
| Tubb1 |
A |
G |
2: 174,298,689 (GRCm39) |
S124G |
probably benign |
Het |
| Zbtb1 |
A |
G |
12: 76,433,573 (GRCm39) |
S520G |
probably benign |
Het |
| Zdhhc7 |
T |
A |
8: 120,811,639 (GRCm39) |
H188L |
probably benign |
Het |
|
| Other mutations in Tom1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00321:Tom1
|
APN |
8 |
75,778,802 (GRCm39) |
missense |
probably benign |
0.27 |
|
IGL00979:Tom1
|
APN |
8 |
75,781,331 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01143:Tom1
|
APN |
8 |
75,785,085 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02825:Tom1
|
APN |
8 |
75,783,883 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0335:Tom1
|
UTSW |
8 |
75,791,020 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0762:Tom1
|
UTSW |
8 |
75,778,934 (GRCm39) |
splice site |
probably benign |
|
|
R1509:Tom1
|
UTSW |
8 |
75,781,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1691:Tom1
|
UTSW |
8 |
75,778,227 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1761:Tom1
|
UTSW |
8 |
75,778,179 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1906:Tom1
|
UTSW |
8 |
75,778,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3966:Tom1
|
UTSW |
8 |
75,785,867 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5004:Tom1
|
UTSW |
8 |
75,778,630 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5513:Tom1
|
UTSW |
8 |
75,783,848 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5906:Tom1
|
UTSW |
8 |
75,776,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6147:Tom1
|
UTSW |
8 |
75,781,320 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6964:Tom1
|
UTSW |
8 |
75,778,593 (GRCm39) |
missense |
probably null |
1.00 |
|
R7010:Tom1
|
UTSW |
8 |
75,778,603 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7131:Tom1
|
UTSW |
8 |
75,783,877 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7147:Tom1
|
UTSW |
8 |
75,783,895 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8701:Tom1
|
UTSW |
8 |
75,778,796 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9081:Tom1
|
UTSW |
8 |
75,778,151 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9278:Tom1
|
UTSW |
8 |
75,783,883 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9344:Tom1
|
UTSW |
8 |
75,785,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9563:Tom1
|
UTSW |
8 |
75,787,177 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9647:Tom1
|
UTSW |
8 |
75,785,495 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTAGTAGGAAGGGAGTCTTGTCTGTC -3'
(R):5'- GCAGCTCACTAGCAGAGTAGAATAGCC -3'
Sequencing Primer
(F):5'- GTCTGTCCTGTCATGTCCCAG -3'
(R):5'- GAGTAGAATAGCCCCAGAATTCC -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation