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 |