Incidental Mutation 'IGL02026:Lrrtm3'
| ID |
184186 |
| 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 # |
IGL02026
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
63764276-63926034 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 63924231 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 312
(N312S)
|
| 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: N312S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101079
Gene: ENSMUSG00000042846
AA Change: N312S
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamdec1 |
A |
T |
14: 68,809,251 (GRCm39) |
V237E |
possibly damaging |
Het |
| Amh |
T |
C |
10: 80,641,242 (GRCm39) |
L54P |
probably damaging |
Het |
| Aoc3 |
T |
C |
11: 101,228,421 (GRCm39) |
S743P |
probably benign |
Het |
| Arhgap23 |
T |
A |
11: 97,342,407 (GRCm39) |
W19R |
probably damaging |
Het |
| Atm |
C |
T |
9: 53,353,717 (GRCm39) |
|
probably null |
Het |
| Ccdc47 |
T |
C |
11: 106,095,853 (GRCm39) |
E281G |
probably damaging |
Het |
| Col7a1 |
A |
C |
9: 108,797,097 (GRCm39) |
K1650N |
probably damaging |
Het |
| Cstdc5 |
C |
A |
16: 36,187,848 (GRCm39) |
V6F |
possibly damaging |
Het |
| Evi2b |
T |
C |
11: 79,406,613 (GRCm39) |
S321G |
probably damaging |
Het |
| Fancm |
T |
G |
12: 65,152,508 (GRCm39) |
V988G |
probably benign |
Het |
| Gbp2 |
A |
G |
3: 142,339,241 (GRCm39) |
Y431C |
probably damaging |
Het |
| Gclc |
T |
C |
9: 77,699,342 (GRCm39) |
V530A |
probably benign |
Het |
| Gm5885 |
T |
C |
6: 133,508,291 (GRCm39) |
|
noncoding transcript |
Het |
| Hlcs |
A |
T |
16: 93,935,564 (GRCm39) |
I576N |
probably damaging |
Het |
| Hnrnpul1 |
A |
T |
7: 25,444,587 (GRCm39) |
F240L |
probably damaging |
Het |
| Itgb6 |
C |
A |
2: 60,458,410 (GRCm39) |
V448F |
possibly damaging |
Het |
| Lama1 |
A |
G |
17: 68,116,287 (GRCm39) |
T2385A |
possibly damaging |
Het |
| Lamc2 |
C |
T |
1: 153,020,482 (GRCm39) |
|
probably benign |
Het |
| Lrrc32 |
C |
T |
7: 98,148,767 (GRCm39) |
R516C |
probably benign |
Het |
| Ltbp4 |
G |
A |
7: 27,026,842 (GRCm39) |
R468* |
probably null |
Het |
| Man1a |
T |
C |
10: 53,890,569 (GRCm39) |
E373G |
probably damaging |
Het |
| Myo1h |
A |
T |
5: 114,461,505 (GRCm39) |
Q250L |
probably null |
Het |
| Myo9a |
T |
C |
9: 59,813,245 (GRCm39) |
V2077A |
probably damaging |
Het |
| Or14j3 |
A |
G |
17: 37,900,298 (GRCm39) |
|
probably benign |
Het |
| Otud5 |
C |
T |
X: 7,738,232 (GRCm39) |
|
probably benign |
Het |
| Pcsk1 |
A |
G |
13: 75,260,772 (GRCm39) |
S332G |
probably benign |
Het |
| Pde8b |
A |
G |
13: 95,170,869 (GRCm39) |
V549A |
probably damaging |
Het |
| Pgap1 |
A |
T |
1: 54,533,978 (GRCm39) |
M645K |
probably benign |
Het |
| Pm20d1 |
A |
T |
1: 131,729,497 (GRCm39) |
R175* |
probably null |
Het |
| Polr2b |
A |
G |
5: 77,480,099 (GRCm39) |
N585S |
probably benign |
Het |
| Recql |
T |
A |
6: 142,312,394 (GRCm39) |
K41* |
probably null |
Het |
| Sccpdh |
A |
T |
1: 179,505,634 (GRCm39) |
H138L |
possibly damaging |
Het |
| Sec31a |
A |
T |
5: 100,517,485 (GRCm39) |
S951T |
probably benign |
Het |
| Slc44a4 |
A |
T |
17: 35,140,832 (GRCm39) |
|
probably benign |
Het |
| Tchhl1 |
G |
T |
3: 93,377,862 (GRCm39) |
A189S |
probably damaging |
Het |
| Tdrd12 |
G |
A |
7: 35,203,658 (GRCm39) |
|
probably benign |
Het |
| Tesl2 |
T |
G |
X: 23,824,233 (GRCm39) |
H314P |
probably damaging |
Het |
| Trbv12-1 |
A |
G |
6: 41,090,928 (GRCm39) |
D100G |
probably damaging |
Het |
| Ttll13 |
T |
A |
7: 79,910,127 (GRCm39) |
S757T |
probably benign |
Het |
| Vipas39 |
T |
A |
12: 87,298,483 (GRCm39) |
|
probably benign |
Het |
| Vmn1r64 |
G |
A |
7: 5,886,649 (GRCm39) |
P298L |
possibly damaging |
Het |
| Vmn1r81 |
A |
G |
7: 11,994,432 (GRCm39) |
S59P |
probably damaging |
Het |
| Vsx1 |
A |
T |
2: 150,530,447 (GRCm39) |
V145D |
probably benign |
Het |
| Wdfy4 |
T |
A |
14: 32,815,257 (GRCm39) |
N1586I |
probably damaging |
Het |
| Zan |
T |
A |
5: 137,403,726 (GRCm39) |
|
probably benign |
Het |
| Zfp318 |
C |
T |
17: 46,707,736 (GRCm39) |
R265* |
probably null |
Het |
| Zzef1 |
T |
A |
11: 72,772,164 (GRCm39) |
M1707K |
probably benign |
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 |
|
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 |
2014-05-07 |
Incidental Mutation