Incidental Mutation 'IGL02452:Lrrtm3'
ID |
293715 |
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 # |
IGL02452
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
63764276-63926034 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 63923815 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 451
(K451E)
|
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: K451E
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000101079 Gene: ENSMUSG00000042846 AA Change: K451E
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acadm |
C |
A |
3: 153,647,607 (GRCm39) |
V11F |
probably damaging |
Het |
Alk |
A |
T |
17: 72,209,620 (GRCm39) |
Y941* |
probably null |
Het |
Blm |
A |
T |
7: 80,153,125 (GRCm39) |
|
probably null |
Het |
Blvrb |
T |
C |
7: 27,158,765 (GRCm39) |
V55A |
possibly damaging |
Het |
Cdh23 |
T |
A |
10: 60,153,721 (GRCm39) |
T2288S |
probably damaging |
Het |
Csnk1g1 |
T |
A |
9: 65,915,067 (GRCm39) |
M242K |
probably damaging |
Het |
Cyp2c29 |
G |
A |
19: 39,279,291 (GRCm39) |
G96D |
possibly damaging |
Het |
Cyp2d26 |
T |
A |
15: 82,676,827 (GRCm39) |
H173L |
probably benign |
Het |
Cyp2g1 |
T |
A |
7: 26,510,871 (GRCm39) |
S131T |
probably benign |
Het |
Dusp29 |
G |
A |
14: 21,752,990 (GRCm39) |
T52I |
probably damaging |
Het |
Dzip3 |
T |
A |
16: 48,758,900 (GRCm39) |
|
probably benign |
Het |
Espl1 |
T |
C |
15: 102,208,274 (GRCm39) |
S427P |
probably damaging |
Het |
Fasn |
A |
T |
11: 120,699,006 (GRCm39) |
D2424E |
probably benign |
Het |
Flrt2 |
G |
A |
12: 95,746,257 (GRCm39) |
M198I |
probably benign |
Het |
Gen1 |
A |
T |
12: 11,292,576 (GRCm39) |
S404R |
probably benign |
Het |
Gm11596 |
A |
T |
11: 99,683,806 (GRCm39) |
C105S |
unknown |
Het |
Hdlbp |
A |
T |
1: 93,345,233 (GRCm39) |
V714D |
probably damaging |
Het |
Igkv4-80 |
A |
G |
6: 68,993,816 (GRCm39) |
V25A |
probably benign |
Het |
Igkv8-27 |
C |
T |
6: 70,148,925 (GRCm39) |
W76* |
probably null |
Het |
Ikzf1 |
T |
C |
11: 11,698,545 (GRCm39) |
L132P |
probably damaging |
Het |
Kcna6 |
C |
A |
6: 126,715,443 (GRCm39) |
C482F |
possibly damaging |
Het |
Lhx9 |
A |
T |
1: 138,769,580 (GRCm39) |
L47Q |
probably damaging |
Het |
Lrp4 |
T |
A |
2: 91,304,347 (GRCm39) |
D175E |
probably damaging |
Het |
Mcm9 |
C |
T |
10: 53,417,653 (GRCm39) |
V17M |
probably damaging |
Het |
Mios |
T |
A |
6: 8,222,492 (GRCm39) |
S475R |
probably benign |
Het |
Mmp24 |
C |
T |
2: 155,657,708 (GRCm39) |
R533C |
probably damaging |
Het |
Moxd1 |
C |
T |
10: 24,158,650 (GRCm39) |
P435S |
probably damaging |
Het |
Mta2 |
T |
A |
19: 8,927,670 (GRCm39) |
I497N |
probably benign |
Het |
Mtus2 |
T |
C |
5: 148,014,473 (GRCm39) |
V422A |
probably benign |
Het |
Ndufaf1 |
A |
T |
2: 119,486,907 (GRCm39) |
F260Y |
probably damaging |
Het |
Nfasc |
C |
T |
1: 132,548,662 (GRCm39) |
|
probably null |
Het |
Nid1 |
A |
T |
13: 13,683,305 (GRCm39) |
T1128S |
probably benign |
Het |
Odad2 |
C |
T |
18: 7,129,461 (GRCm39) |
E906K |
probably damaging |
Het |
Or51f1d |
A |
G |
7: 102,701,138 (GRCm39) |
D211G |
probably benign |
Het |
Pcdh12 |
G |
A |
18: 38,414,746 (GRCm39) |
P793L |
probably benign |
Het |
Pclo |
A |
T |
5: 14,726,980 (GRCm39) |
|
probably benign |
Het |
Prpf31 |
T |
A |
7: 3,637,185 (GRCm39) |
N161K |
possibly damaging |
Het |
Prpf6 |
T |
G |
2: 181,290,878 (GRCm39) |
N656K |
probably benign |
Het |
Ptprn |
T |
A |
1: 75,234,813 (GRCm39) |
H258L |
probably benign |
Het |
Rab19 |
A |
G |
6: 39,366,732 (GRCm39) |
T216A |
probably benign |
Het |
Ryr3 |
A |
C |
2: 112,664,335 (GRCm39) |
L1652W |
probably damaging |
Het |
Six2 |
A |
C |
17: 85,992,806 (GRCm39) |
S232R |
possibly damaging |
Het |
Spag17 |
T |
C |
3: 99,934,707 (GRCm39) |
V663A |
probably benign |
Het |
Spag5 |
A |
G |
11: 78,195,449 (GRCm39) |
N252S |
probably benign |
Het |
Spata31e4 |
A |
T |
13: 50,857,113 (GRCm39) |
H917L |
probably damaging |
Het |
Sptb |
C |
T |
12: 76,655,810 (GRCm39) |
|
probably null |
Het |
Synj1 |
A |
G |
16: 90,758,253 (GRCm39) |
|
probably benign |
Het |
Tekt2 |
T |
C |
4: 126,218,645 (GRCm39) |
H36R |
possibly damaging |
Het |
Tjp1 |
A |
T |
7: 64,962,403 (GRCm39) |
M1258K |
probably damaging |
Het |
Txnrd3 |
T |
C |
6: 89,651,777 (GRCm39) |
*502Q |
probably null |
Het |
|
Other mutations in Lrrtm3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00743:Lrrtm3
|
APN |
10 |
63,924,988 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02026:Lrrtm3
|
APN |
10 |
63,924,231 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
2015-04-16 |