Incidental Mutation 'IGL02191:Lrtm1'
ID |
283863 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Lrtm1
|
Ensembl Gene |
ENSMUSG00000045776 |
Gene Name |
leucine-rich repeats and transmembrane domains 1 |
Synonyms |
A930016D02Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.088)
|
Stock # |
IGL02191
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
28740165-28755599 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 28743906 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Leucine
at position 125
(I125L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153372
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022567]
[ENSMUST00000055662]
[ENSMUST00000224708]
[ENSMUST00000224760]
|
AlphaFold |
Q8BXQ3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022567
|
SMART Domains |
Protein: ENSMUSP00000022567 Gene: ENSMUSG00000021991
Domain | Start | End | E-Value | Type |
low complexity region
|
14 |
27 |
N/A |
INTRINSIC |
Blast:WNT1
|
28 |
103 |
2e-33 |
BLAST |
Pfam:VWA_N
|
113 |
229 |
6.8e-40 |
PFAM |
VWA
|
254 |
439 |
4.13e-24 |
SMART |
Pfam:Cache_1
|
452 |
548 |
3e-32 |
PFAM |
low complexity region
|
1070 |
1088 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000055662
AA Change: I125L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000061828 Gene: ENSMUSG00000045776 AA Change: I125L
Domain | Start | End | E-Value | Type |
LRRNT
|
32 |
66 |
4.41e-6 |
SMART |
LRR
|
65 |
84 |
2.33e2 |
SMART |
LRR
|
85 |
108 |
2.67e-1 |
SMART |
LRR
|
109 |
131 |
1.15e1 |
SMART |
LRR_TYP
|
133 |
156 |
3.89e-3 |
SMART |
LRRCT
|
192 |
245 |
8.63e-6 |
SMART |
transmembrane domain
|
297 |
319 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224708
AA Change: I152L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224760
AA Change: I125L
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
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 |
Actn1 |
T |
C |
12: 80,220,883 (GRCm39) |
I642V |
probably benign |
Het |
Adam5 |
G |
A |
8: 25,302,439 (GRCm39) |
R185* |
probably null |
Het |
C2 |
T |
C |
17: 35,085,539 (GRCm39) |
I122V |
probably damaging |
Het |
Camsap1 |
A |
G |
2: 25,819,892 (GRCm39) |
I1531T |
probably damaging |
Het |
Celsr1 |
T |
C |
15: 85,863,205 (GRCm39) |
T1276A |
possibly damaging |
Het |
Cnot7 |
A |
T |
8: 40,963,068 (GRCm39) |
N35K |
probably benign |
Het |
Cyp2a12 |
A |
G |
7: 26,736,036 (GRCm39) |
I482V |
probably benign |
Het |
Cyp3a57 |
A |
G |
5: 145,302,495 (GRCm39) |
E97G |
probably damaging |
Het |
Cyp51 |
C |
A |
5: 4,150,147 (GRCm39) |
R192I |
probably benign |
Het |
Ddx59 |
T |
C |
1: 136,344,896 (GRCm39) |
L189P |
probably damaging |
Het |
Dnah6 |
A |
G |
6: 72,994,780 (GRCm39) |
I4127T |
probably benign |
Het |
Dock3 |
C |
T |
9: 106,815,340 (GRCm39) |
V1217I |
probably benign |
Het |
Ergic2 |
T |
C |
6: 148,106,319 (GRCm39) |
D57G |
probably null |
Het |
Flvcr2 |
A |
T |
12: 85,832,966 (GRCm39) |
K329* |
probably null |
Het |
Foxp1 |
T |
C |
6: 98,922,561 (GRCm39) |
S327G |
probably damaging |
Het |
Gen1 |
A |
C |
12: 11,292,297 (GRCm39) |
H562Q |
probably benign |
Het |
Gjc2 |
A |
G |
11: 59,068,386 (GRCm39) |
V32A |
probably damaging |
Het |
Grk4 |
C |
T |
5: 34,912,533 (GRCm39) |
H574Y |
probably benign |
Het |
Kif15 |
T |
A |
9: 122,804,744 (GRCm39) |
C93S |
probably damaging |
Het |
Mrgprb8 |
A |
G |
7: 48,038,527 (GRCm39) |
Y66C |
probably damaging |
Het |
Pfn1 |
G |
A |
11: 70,545,209 (GRCm39) |
A33V |
probably damaging |
Het |
Scnn1b |
A |
C |
7: 121,516,736 (GRCm39) |
K492Q |
probably damaging |
Het |
Slc22a29 |
G |
A |
19: 8,196,045 (GRCm39) |
|
probably benign |
Het |
Spocd1 |
A |
G |
4: 129,847,380 (GRCm39) |
D523G |
probably damaging |
Het |
Tmem144 |
A |
T |
3: 79,734,159 (GRCm39) |
D181E |
possibly damaging |
Het |
Tmem220 |
G |
A |
11: 66,921,933 (GRCm39) |
C101Y |
probably damaging |
Het |
Tmpo |
A |
G |
10: 90,997,741 (GRCm39) |
V682A |
probably benign |
Het |
Wdr93 |
A |
G |
7: 79,398,968 (GRCm39) |
K34R |
probably damaging |
Het |
Zdhhc16 |
C |
A |
19: 41,926,130 (GRCm39) |
C8* |
probably null |
Het |
Zfp318 |
C |
T |
17: 46,707,736 (GRCm39) |
R265* |
probably null |
Het |
|
Other mutations in Lrtm1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R0102:Lrtm1
|
UTSW |
14 |
28,744,184 (GRCm39) |
splice site |
probably benign |
|
R0102:Lrtm1
|
UTSW |
14 |
28,744,184 (GRCm39) |
splice site |
probably benign |
|
R0602:Lrtm1
|
UTSW |
14 |
28,744,179 (GRCm39) |
splice site |
probably benign |
|
R5214:Lrtm1
|
UTSW |
14 |
28,743,651 (GRCm39) |
missense |
possibly damaging |
0.58 |
R5253:Lrtm1
|
UTSW |
14 |
28,743,801 (GRCm39) |
missense |
probably benign |
0.13 |
R5787:Lrtm1
|
UTSW |
14 |
28,743,947 (GRCm39) |
missense |
possibly damaging |
0.89 |
R5937:Lrtm1
|
UTSW |
14 |
28,743,787 (GRCm39) |
missense |
possibly damaging |
0.90 |
R6238:Lrtm1
|
UTSW |
14 |
28,749,628 (GRCm39) |
missense |
probably benign |
0.02 |
R6850:Lrtm1
|
UTSW |
14 |
28,749,407 (GRCm39) |
missense |
probably benign |
0.00 |
R7304:Lrtm1
|
UTSW |
14 |
28,744,075 (GRCm39) |
missense |
probably damaging |
0.97 |
R7363:Lrtm1
|
UTSW |
14 |
28,743,850 (GRCm39) |
missense |
probably damaging |
1.00 |
R7385:Lrtm1
|
UTSW |
14 |
28,749,673 (GRCm39) |
missense |
probably benign |
0.00 |
R8181:Lrtm1
|
UTSW |
14 |
28,743,894 (GRCm39) |
missense |
probably damaging |
1.00 |
R9299:Lrtm1
|
UTSW |
14 |
28,743,714 (GRCm39) |
missense |
probably damaging |
1.00 |
RF036:Lrtm1
|
UTSW |
14 |
28,743,400 (GRCm39) |
frame shift |
probably null |
|
RF063:Lrtm1
|
UTSW |
14 |
28,743,400 (GRCm39) |
frame shift |
probably null |
|
|
Posted On |
2015-04-16 |