Incidental Mutation 'R7010:Tom1'
| ID |
544966 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tom1
|
| Ensembl Gene |
ENSMUSG00000042870 |
| Gene Name |
target of myb1 trafficking protein |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
R7010 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
75760333-75796749 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 75778603 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 140
(V140D)
|
| 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 damaging
Transcript: ENSMUST00000078847
AA Change: V140D
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000077891
Gene: ENSMUSG00000042870
AA Change: V140D
| Domain | Start | End | E-Value | Type |
|---|
|
VHS
|
13 |
148 |
4.03e-68 |
SMART |
|
Pfam:GAT
|
228 |
303 |
1.7e-24 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000165630
AA Change: V140D
PolyPhen 2
Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000130854
Gene: ENSMUSG00000042870
AA Change: V140D
| 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 |
possibly damaging
Transcript: ENSMUST00000212299
AA Change: V90D
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212388
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212564
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212651
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
| Validation Efficiency |
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AL592187.3 |
A |
T |
15: 77,486,797 (GRCm39) |
Y58F |
probably benign |
Het |
| Ano10 |
T |
C |
9: 122,082,190 (GRCm39) |
T494A |
probably damaging |
Het |
| Asah2 |
A |
T |
19: 32,031,954 (GRCm39) |
F72I |
probably benign |
Het |
| Atat1 |
T |
C |
17: 36,219,522 (GRCm39) |
D114G |
probably damaging |
Het |
| Atp6v1e2 |
C |
T |
17: 87,251,773 (GRCm39) |
M208I |
probably benign |
Het |
| Bicd1 |
A |
G |
6: 149,396,113 (GRCm39) |
Y161C |
probably damaging |
Het |
| Camk2g |
T |
C |
14: 20,791,512 (GRCm39) |
S410G |
probably benign |
Het |
| Car2 |
C |
T |
3: 14,965,113 (GRCm39) |
P249L |
possibly damaging |
Het |
| Cdh23 |
T |
G |
10: 60,366,770 (GRCm39) |
I237L |
probably benign |
Het |
| Dlat |
T |
A |
9: 50,569,274 (GRCm39) |
K176N |
probably damaging |
Het |
| Dnajc12 |
T |
A |
10: 63,233,059 (GRCm39) |
C67S |
probably benign |
Het |
| Fat1 |
G |
T |
8: 45,406,386 (GRCm39) |
E1046* |
probably null |
Het |
| Gmip |
G |
A |
8: 70,264,050 (GRCm39) |
A137T |
probably damaging |
Het |
| Gpatch2l |
G |
A |
12: 86,290,958 (GRCm39) |
R47H |
probably damaging |
Het |
| Grk6 |
A |
G |
13: 55,598,113 (GRCm39) |
I62V |
possibly damaging |
Het |
| Hook1 |
G |
T |
4: 95,903,048 (GRCm39) |
L512F |
probably damaging |
Het |
| Ighe |
T |
C |
12: 113,236,761 (GRCm39) |
T36A |
|
Het |
| Il17rc |
A |
G |
6: 113,456,249 (GRCm39) |
N338S |
possibly damaging |
Het |
| Itgb6 |
T |
C |
2: 60,480,322 (GRCm39) |
Y338C |
probably damaging |
Het |
| Kcnd2 |
A |
G |
6: 21,216,707 (GRCm39) |
Y137C |
probably damaging |
Het |
| L3mbtl3 |
T |
A |
10: 26,158,759 (GRCm39) |
|
probably null |
Het |
| Lcn3 |
T |
C |
2: 25,656,068 (GRCm39) |
F41S |
probably damaging |
Het |
| Map3k8 |
T |
C |
18: 4,334,060 (GRCm39) |
H344R |
probably damaging |
Het |
| Marf1 |
A |
T |
16: 13,954,865 (GRCm39) |
I884N |
probably damaging |
Het |
| Nalcn |
G |
A |
14: 123,530,877 (GRCm39) |
T1387I |
probably damaging |
Het |
| Nrros |
T |
C |
16: 31,962,398 (GRCm39) |
T540A |
probably damaging |
Het |
| Or5p63 |
A |
T |
7: 107,811,349 (GRCm39) |
I129N |
probably damaging |
Het |
| Pank2 |
T |
C |
2: 131,122,293 (GRCm39) |
Y273H |
probably benign |
Het |
| Pgrmc2 |
A |
G |
3: 41,037,068 (GRCm39) |
V121A |
probably damaging |
Het |
| Phldb2 |
C |
T |
16: 45,571,868 (GRCm39) |
V1175M |
probably damaging |
Het |
| Prss3b |
A |
C |
6: 41,009,247 (GRCm39) |
S196A |
probably benign |
Het |
| Ranbp2 |
A |
G |
10: 58,290,393 (GRCm39) |
|
probably null |
Het |
| Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
| Syt7 |
A |
G |
19: 10,395,354 (GRCm39) |
T55A |
probably benign |
Het |
| Tfcp2l1 |
T |
C |
1: 118,581,457 (GRCm39) |
S137P |
probably damaging |
Het |
| Ttc23l |
T |
G |
15: 10,515,224 (GRCm39) |
I385L |
probably damaging |
Het |
| Vmn1r122 |
A |
G |
7: 20,867,896 (GRCm39) |
V53A |
probably damaging |
Het |
| Vmn2r1 |
C |
T |
3: 64,012,146 (GRCm39) |
T669I |
probably benign |
Het |
| Vmn2r86 |
A |
G |
10: 130,291,726 (GRCm39) |
L13P |
probably benign |
Het |
| Zfp958 |
T |
C |
8: 4,678,377 (GRCm39) |
I134T |
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 |
|
|
R1317:Tom1
|
UTSW |
8 |
75,778,179 (GRCm39) |
missense |
probably benign |
0.03 |
|
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 |
|
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'- TATCACTGTGTGCTGAGCCTG -3'
(R):5'- AGTTGAATACAGTCTAAGGGGC -3'
Sequencing Primer
(F):5'- TGTGCTGAGCCTGGTACAC -3'
(R):5'- TTGAATACAGTCTAAGGGGCAAAAG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation