Incidental Mutation 'IGL00565:LTO1'
| ID |
12868 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
LTO1
|
| Ensembl Gene |
ENSMUSG00000031072 |
| Gene Name |
ABCE maturation factor |
| Synonyms |
2210010N10Rik, Oraov1, TAOS1 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.903)
|
| Stock # |
IGL00565
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
144468837-144485438 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 144470220 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 50
(V50F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115840
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033388]
[ENSMUST00000105895]
[ENSMUST00000128057]
[ENSMUST00000141737]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000033388
AA Change: V50F
PolyPhen 2
Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000033388
Gene: ENSMUSG00000031072
AA Change: V50F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Yae1_N
|
36 |
74 |
2.6e-14 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000093964
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000105895
AA Change: V50F
PolyPhen 2
Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000101515
Gene: ENSMUSG00000031072
AA Change: V50F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Yae1_N
|
36 |
74 |
2e-14 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000128057
AA Change: V50F
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000115840
Gene: ENSMUSG00000031072
AA Change: V50F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Yae1_N
|
36 |
74 |
7.8e-14 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141737
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147460
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207094
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207453
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227063
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610021A01Rik |
C |
A |
7: 41,274,996 (GRCm39) |
T233K |
possibly damaging |
Het |
| Adamts9 |
A |
T |
6: 92,836,883 (GRCm39) |
M623K |
possibly damaging |
Het |
| Arid1a |
T |
G |
4: 133,412,793 (GRCm39) |
D1467A |
unknown |
Het |
| Cdhr2 |
A |
G |
13: 54,866,112 (GRCm39) |
D304G |
probably damaging |
Het |
| Cenpj |
C |
T |
14: 56,790,487 (GRCm39) |
V521I |
probably benign |
Het |
| Ciao2a |
A |
T |
9: 66,039,898 (GRCm39) |
I72L |
probably benign |
Het |
| Csf2rb |
G |
T |
15: 78,232,714 (GRCm39) |
E674* |
probably null |
Het |
| Dnai3 |
T |
C |
3: 145,750,674 (GRCm39) |
|
probably benign |
Het |
| Edaradd |
C |
T |
13: 12,498,480 (GRCm39) |
|
probably null |
Het |
| Emilin2 |
A |
G |
17: 71,559,854 (GRCm39) |
V1041A |
possibly damaging |
Het |
| Fam135b |
A |
G |
15: 71,343,361 (GRCm39) |
V418A |
probably benign |
Het |
| Gnas |
T |
A |
2: 174,183,504 (GRCm39) |
|
probably benign |
Het |
| Grxcr1 |
A |
T |
5: 68,189,540 (GRCm39) |
N104Y |
possibly damaging |
Het |
| Gtf2a1l |
T |
A |
17: 89,001,723 (GRCm39) |
L146Q |
probably damaging |
Het |
| Hectd1 |
T |
A |
12: 51,837,181 (GRCm39) |
E791D |
probably damaging |
Het |
| Ifi203 |
A |
G |
1: 173,765,306 (GRCm39) |
|
probably null |
Het |
| Klk1b11 |
A |
G |
7: 43,649,243 (GRCm39) |
N260S |
probably damaging |
Het |
| Map4 |
A |
T |
9: 109,901,672 (GRCm39) |
|
probably benign |
Het |
| Marveld2 |
C |
T |
13: 100,737,401 (GRCm39) |
V163M |
possibly damaging |
Het |
| Med14 |
T |
C |
X: 12,613,003 (GRCm39) |
|
probably benign |
Het |
| Mex3b |
A |
T |
7: 82,518,116 (GRCm39) |
I144F |
probably damaging |
Het |
| Pde2a |
T |
A |
7: 101,133,796 (GRCm39) |
C92* |
probably null |
Het |
| Phf6 |
T |
A |
X: 52,020,516 (GRCm39) |
Y103N |
probably damaging |
Het |
| Ptprt |
A |
G |
2: 161,402,111 (GRCm39) |
I1039T |
probably damaging |
Het |
| Rftn2 |
C |
A |
1: 55,243,444 (GRCm39) |
V275F |
probably damaging |
Het |
| Skap1 |
C |
A |
11: 96,621,971 (GRCm39) |
Q296K |
probably damaging |
Het |
| Skap1 |
T |
A |
11: 96,622,016 (GRCm39) |
F311I |
probably damaging |
Het |
| Tas2r115 |
A |
G |
6: 132,714,741 (GRCm39) |
I70T |
probably benign |
Het |
| Vav2 |
T |
C |
2: 27,167,250 (GRCm39) |
D613G |
probably benign |
Het |
| Zranb3 |
T |
C |
1: 127,943,877 (GRCm39) |
E290G |
probably benign |
Het |
|
| Other mutations in LTO1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00225:LTO1
|
APN |
7 |
144,471,405 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL03130:LTO1
|
APN |
7 |
144,470,197 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4382001:LTO1
|
UTSW |
7 |
144,470,181 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0784:LTO1
|
UTSW |
7 |
144,473,014 (GRCm39) |
missense |
probably benign |
0.33 |
|
R1938:LTO1
|
UTSW |
7 |
144,470,205 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4115:LTO1
|
UTSW |
7 |
144,473,383 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R4695:LTO1
|
UTSW |
7 |
144,482,715 (GRCm39) |
splice site |
probably null |
|
|
R6056:LTO1
|
UTSW |
7 |
144,469,023 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R6364:LTO1
|
UTSW |
7 |
144,473,005 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8716:LTO1
|
UTSW |
7 |
144,468,930 (GRCm39) |
unclassified |
probably benign |
|
|
| Posted On |
2012-12-06 |
Incidental Mutation