Incidental Mutation 'IGL00743:Lrrtm3'
ID |
11860 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Lrrtm3
|
Ensembl Gene |
ENSMUSG00000042846 |
Gene Name |
leucine rich repeat transmembrane neuronal 3 |
Synonyms |
9630044H04Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL00743
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
63764276-63926034 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 63924988 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 60
(S60T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101079
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075099]
[ENSMUST00000105439]
[ENSMUST00000105440]
[ENSMUST00000105441]
|
AlphaFold |
Q8BZ81 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000075099
|
SMART Domains |
Protein: ENSMUSP00000074606 Gene: ENSMUSG00000060843
Domain | Start | End | E-Value | Type |
Pfam:Vinculin
|
17 |
363 |
5.1e-66 |
PFAM |
Pfam:Vinculin
|
324 |
856 |
1e-175 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000105439
AA Change: S60T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000101079 Gene: ENSMUSG00000042846 AA Change: S60T
Domain | Start | End | E-Value | Type |
low complexity region
|
13 |
27 |
N/A |
INTRINSIC |
LRRNT
|
33 |
65 |
2.11e-3 |
SMART |
LRR_TYP
|
84 |
107 |
2.09e-3 |
SMART |
LRR
|
108 |
131 |
6.77e0 |
SMART |
LRR_TYP
|
132 |
155 |
2.71e-2 |
SMART |
LRR_TYP
|
156 |
179 |
1.47e-3 |
SMART |
LRR
|
180 |
203 |
1.43e-1 |
SMART |
LRR
|
204 |
227 |
1.29e1 |
SMART |
LRR
|
228 |
251 |
2.14e1 |
SMART |
LRR
|
252 |
276 |
1.45e1 |
SMART |
LRR
|
277 |
300 |
2.02e-1 |
SMART |
Blast:LRRCT
|
312 |
361 |
6e-16 |
BLAST |
transmembrane domain
|
421 |
443 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000105440
|
SMART Domains |
Protein: ENSMUSP00000101080 Gene: ENSMUSG00000060843
Domain | Start | End | E-Value | Type |
Pfam:Vinculin
|
17 |
363 |
5.1e-66 |
PFAM |
Pfam:Vinculin
|
324 |
856 |
1e-175 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000105441
|
SMART Domains |
Protein: ENSMUSP00000101081 Gene: ENSMUSG00000060843
Domain | Start | End | E-Value | Type |
Pfam:Vinculin
|
17 |
363 |
5.1e-66 |
PFAM |
Pfam:Vinculin
|
324 |
856 |
1e-175 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131945
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133588
|
SMART Domains |
Protein: ENSMUSP00000114794 Gene: ENSMUSG00000042846
Domain | Start | End | E-Value | Type |
transmembrane domain
|
15 |
37 |
N/A |
INTRINSIC |
LRRNT
|
40 |
72 |
2.11e-3 |
SMART |
LRR_TYP
|
91 |
114 |
2.09e-3 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148712
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acss1 |
T |
C |
2: 150,461,606 (GRCm39) |
E659G |
probably benign |
Het |
Adgrg6 |
A |
C |
10: 14,411,703 (GRCm39) |
|
probably benign |
Het |
Als2cl |
A |
G |
9: 110,718,227 (GRCm39) |
K323E |
possibly damaging |
Het |
Atm |
A |
C |
9: 53,424,416 (GRCm39) |
S628R |
probably benign |
Het |
Baz2a |
T |
C |
10: 127,950,395 (GRCm39) |
V443A |
probably benign |
Het |
Bclaf3 |
T |
A |
X: 158,341,357 (GRCm39) |
F545Y |
probably benign |
Het |
Calcr |
T |
C |
6: 3,717,196 (GRCm39) |
Y88C |
probably damaging |
Het |
Ccdc178 |
C |
T |
18: 22,278,501 (GRCm39) |
|
probably benign |
Het |
Cdh20 |
A |
G |
1: 104,875,153 (GRCm39) |
T312A |
probably benign |
Het |
Chrnd |
G |
A |
1: 87,120,649 (GRCm39) |
W91* |
probably null |
Het |
Cntln |
T |
C |
4: 84,897,652 (GRCm39) |
F413S |
probably benign |
Het |
Ctsq |
A |
T |
13: 61,183,998 (GRCm39) |
I308N |
probably damaging |
Het |
Cyp2d34 |
A |
T |
15: 82,501,736 (GRCm39) |
V258D |
probably damaging |
Het |
Dnajc13 |
G |
A |
9: 104,039,979 (GRCm39) |
P2044S |
probably benign |
Het |
Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
Hps6 |
A |
T |
19: 45,992,099 (GRCm39) |
D12V |
probably damaging |
Het |
Hpse |
T |
C |
5: 100,846,865 (GRCm39) |
D188G |
probably benign |
Het |
Id2 |
C |
A |
12: 25,145,355 (GRCm39) |
E123* |
probably null |
Het |
Ints10 |
C |
T |
8: 69,271,985 (GRCm39) |
P562L |
probably damaging |
Het |
Kctd10 |
G |
A |
5: 114,505,410 (GRCm39) |
R195C |
probably damaging |
Het |
Kel |
A |
C |
6: 41,665,509 (GRCm39) |
L537R |
probably damaging |
Het |
Kif19a |
T |
C |
11: 114,675,599 (GRCm39) |
V357A |
probably damaging |
Het |
Myof |
C |
A |
19: 37,949,382 (GRCm39) |
R608L |
probably benign |
Het |
Naa35 |
A |
T |
13: 59,778,485 (GRCm39) |
I669F |
probably benign |
Het |
Or8g2b |
A |
T |
9: 39,751,002 (GRCm39) |
I91F |
probably benign |
Het |
Or8g53 |
A |
G |
9: 39,683,407 (GRCm39) |
S230P |
possibly damaging |
Het |
Pclo |
G |
T |
5: 14,728,035 (GRCm39) |
|
probably benign |
Het |
Pik3c3 |
C |
T |
18: 30,407,417 (GRCm39) |
S55F |
probably damaging |
Het |
Prdm6 |
T |
G |
18: 53,673,300 (GRCm39) |
D153E |
possibly damaging |
Het |
Rnf183 |
T |
C |
4: 62,346,610 (GRCm39) |
T63A |
probably benign |
Het |
Samd4b |
A |
C |
7: 28,101,302 (GRCm39) |
I108S |
probably damaging |
Het |
Slc9a7 |
T |
C |
X: 19,972,260 (GRCm39) |
D708G |
possibly damaging |
Het |
Stim2 |
A |
G |
5: 54,210,835 (GRCm39) |
D90G |
probably benign |
Het |
Tmem52b |
A |
G |
6: 129,493,678 (GRCm39) |
D97G |
probably damaging |
Het |
Tnfsf15 |
T |
C |
4: 63,652,518 (GRCm39) |
R98G |
probably benign |
Het |
Uxs1 |
C |
T |
1: 43,796,173 (GRCm39) |
V310I |
probably benign |
Het |
Vcan |
A |
C |
13: 89,873,425 (GRCm39) |
M143R |
probably damaging |
Het |
Vmn2r93 |
T |
C |
17: 18,546,504 (GRCm39) |
F792S |
probably damaging |
Het |
Zfp455 |
T |
C |
13: 67,355,962 (GRCm39) |
I345T |
probably benign |
Het |
Zfp938 |
A |
T |
10: 82,062,317 (GRCm39) |
M101K |
probably benign |
Het |
Zkscan2 |
A |
G |
7: 123,079,195 (GRCm39) |
S921P |
probably damaging |
Het |
|
Other mutations in Lrrtm3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02026:Lrrtm3
|
APN |
10 |
63,924,231 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02452:Lrrtm3
|
APN |
10 |
63,923,815 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03145:Lrrtm3
|
APN |
10 |
63,924,799 (GRCm39) |
missense |
probably benign |
0.00 |
R1511:Lrrtm3
|
UTSW |
10 |
63,924,804 (GRCm39) |
missense |
probably damaging |
1.00 |
R1556:Lrrtm3
|
UTSW |
10 |
63,923,928 (GRCm39) |
missense |
probably damaging |
0.97 |
R1921:Lrrtm3
|
UTSW |
10 |
63,924,157 (GRCm39) |
missense |
probably benign |
0.37 |
R1933:Lrrtm3
|
UTSW |
10 |
63,924,292 (GRCm39) |
missense |
possibly damaging |
0.81 |
R2849:Lrrtm3
|
UTSW |
10 |
63,924,810 (GRCm39) |
missense |
probably damaging |
1.00 |
R4707:Lrrtm3
|
UTSW |
10 |
63,923,781 (GRCm39) |
missense |
probably benign |
0.42 |
R4785:Lrrtm3
|
UTSW |
10 |
63,923,781 (GRCm39) |
missense |
probably benign |
0.42 |
R5423:Lrrtm3
|
UTSW |
10 |
63,923,931 (GRCm39) |
missense |
possibly damaging |
0.81 |
R5559:Lrrtm3
|
UTSW |
10 |
63,766,045 (GRCm39) |
missense |
probably benign |
0.35 |
R6295:Lrrtm3
|
UTSW |
10 |
63,765,913 (GRCm39) |
missense |
probably benign |
|
R6301:Lrrtm3
|
UTSW |
10 |
63,925,001 (GRCm39) |
missense |
probably benign |
0.26 |
R6356:Lrrtm3
|
UTSW |
10 |
63,765,943 (GRCm39) |
missense |
probably benign |
0.13 |
R6799:Lrrtm3
|
UTSW |
10 |
63,923,630 (GRCm39) |
nonsense |
probably null |
|
R7419:Lrrtm3
|
UTSW |
10 |
63,923,925 (GRCm39) |
missense |
probably damaging |
1.00 |
R7494:Lrrtm3
|
UTSW |
10 |
63,924,958 (GRCm39) |
missense |
probably damaging |
1.00 |
R7694:Lrrtm3
|
UTSW |
10 |
63,923,818 (GRCm39) |
missense |
probably benign |
0.03 |
R7723:Lrrtm3
|
UTSW |
10 |
63,924,427 (GRCm39) |
missense |
possibly damaging |
0.69 |
R8197:Lrrtm3
|
UTSW |
10 |
63,924,295 (GRCm39) |
missense |
possibly damaging |
0.65 |
R8310:Lrrtm3
|
UTSW |
10 |
63,925,487 (GRCm39) |
critical splice donor site |
probably null |
|
R8879:Lrrtm3
|
UTSW |
10 |
63,925,017 (GRCm39) |
missense |
possibly damaging |
0.68 |
R9105:Lrrtm3
|
UTSW |
10 |
63,924,336 (GRCm39) |
missense |
possibly damaging |
0.82 |
R9193:Lrrtm3
|
UTSW |
10 |
63,765,883 (GRCm39) |
missense |
probably damaging |
1.00 |
R9223:Lrrtm3
|
UTSW |
10 |
63,925,035 (GRCm39) |
frame shift |
probably null |
|
R9224:Lrrtm3
|
UTSW |
10 |
63,925,035 (GRCm39) |
frame shift |
probably null |
|
R9314:Lrrtm3
|
UTSW |
10 |
63,925,499 (GRCm39) |
intron |
probably benign |
|
R9365:Lrrtm3
|
UTSW |
10 |
63,923,943 (GRCm39) |
missense |
probably benign |
|
R9628:Lrrtm3
|
UTSW |
10 |
63,923,776 (GRCm39) |
missense |
probably damaging |
0.98 |
R9799:Lrrtm3
|
UTSW |
10 |
63,925,749 (GRCm39) |
intron |
probably benign |
|
Z1176:Lrrtm3
|
UTSW |
10 |
63,925,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2012-12-06 |