Incidental Mutation 'IGL02692:Lmbrd2'
| ID |
303797 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lmbrd2
|
| Ensembl Gene |
ENSMUSG00000039704 |
| Gene Name |
LMBR1 domain containing 2 |
| Synonyms |
9930036E21Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.231)
|
| Stock # |
IGL02692
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
9140637-9202569 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 9149155 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 13
(V13I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154020
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090380]
[ENSMUST00000190131]
[ENSMUST00000227556]
|
| AlphaFold |
Q8C561 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000090380
AA Change: V13I
PolyPhen 2
Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000087858
Gene: ENSMUSG00000039704
AA Change: V13I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LMBR1
|
8 |
546 |
4.2e-192 |
PFAM |
|
low complexity region
|
574 |
598 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190131
|
| SMART Domains |
Protein: ENSMUSP00000139997
Gene: ENSMUSG00000054115
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
65 |
105 |
2.3e-10 |
SMART |
|
LRR
|
170 |
194 |
5.3e-1 |
SMART |
|
LRR
|
195 |
219 |
5.3e-2 |
SMART |
|
LRR
|
220 |
245 |
1.2e-1 |
SMART |
|
LRR
|
299 |
324 |
1.2e-1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190406
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000227556
AA Change: V13I
PolyPhen 2
Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017N19Rik |
A |
C |
10: 100,439,410 (GRCm39) |
S72R |
probably benign |
Het |
| 4930544G11Rik |
T |
C |
6: 65,929,792 (GRCm39) |
V9A |
probably damaging |
Het |
| Actl11 |
A |
G |
9: 107,806,507 (GRCm39) |
N277D |
probably benign |
Het |
| Adam2 |
T |
A |
14: 66,311,536 (GRCm39) |
I57F |
probably damaging |
Het |
| Adgrf1 |
T |
C |
17: 43,614,669 (GRCm39) |
F251S |
probably damaging |
Het |
| Anapc15-ps |
T |
C |
10: 95,509,089 (GRCm39) |
I64V |
probably benign |
Het |
| Anapc4 |
T |
C |
5: 53,021,871 (GRCm39) |
V651A |
probably damaging |
Het |
| Atl2 |
T |
C |
17: 80,172,482 (GRCm39) |
N163D |
probably benign |
Het |
| B4galnt3 |
G |
A |
6: 120,187,272 (GRCm39) |
R708C |
probably damaging |
Het |
| Capza2 |
C |
T |
6: 17,654,115 (GRCm39) |
Q56* |
probably null |
Het |
| Cspg4 |
T |
A |
9: 56,794,738 (GRCm39) |
H824Q |
probably benign |
Het |
| Dock7 |
G |
A |
4: 98,875,623 (GRCm39) |
P1106S |
probably damaging |
Het |
| Fat4 |
A |
G |
3: 39,005,235 (GRCm39) |
Y1878C |
probably damaging |
Het |
| Grk2 |
A |
T |
19: 4,340,716 (GRCm39) |
|
probably benign |
Het |
| Loxhd1 |
G |
T |
18: 77,444,609 (GRCm39) |
C336F |
probably damaging |
Het |
| Morc1 |
T |
A |
16: 48,330,596 (GRCm39) |
F355L |
probably null |
Het |
| Mov10 |
C |
A |
3: 104,708,119 (GRCm39) |
E503* |
probably null |
Het |
| Nt5dc3 |
T |
A |
10: 86,640,642 (GRCm39) |
|
probably null |
Het |
| Or2w3b |
A |
G |
11: 58,623,343 (GRCm39) |
V216A |
probably benign |
Het |
| Phf20 |
T |
A |
2: 156,140,498 (GRCm39) |
M724K |
probably damaging |
Het |
| Pla2g2e |
G |
T |
4: 138,609,870 (GRCm39) |
|
probably benign |
Het |
| Polq |
T |
A |
16: 36,880,989 (GRCm39) |
V772E |
probably damaging |
Het |
| Rhoh |
A |
G |
5: 66,050,143 (GRCm39) |
R138G |
probably benign |
Het |
| Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
| Septin7 |
A |
G |
9: 25,207,786 (GRCm39) |
|
probably benign |
Het |
| Serpina9 |
A |
C |
12: 103,974,665 (GRCm39) |
F163V |
probably damaging |
Het |
| Slc2a13 |
A |
T |
15: 91,205,861 (GRCm39) |
F442Y |
probably benign |
Het |
| Slc34a1 |
G |
A |
13: 55,551,049 (GRCm39) |
|
probably benign |
Het |
| Slc6a11 |
T |
C |
6: 114,139,100 (GRCm39) |
F236S |
probably damaging |
Het |
| Usp1 |
A |
G |
4: 98,817,197 (GRCm39) |
K130E |
probably benign |
Het |
| Zfp386 |
A |
G |
12: 116,022,855 (GRCm39) |
E156G |
probably damaging |
Het |
| Zfp957 |
C |
T |
14: 79,450,825 (GRCm39) |
V325I |
unknown |
Het |
|
| Other mutations in Lmbrd2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00586:Lmbrd2
|
APN |
15 |
9,157,382 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00864:Lmbrd2
|
APN |
15 |
9,175,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01554:Lmbrd2
|
APN |
15 |
9,165,906 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
IGL02142:Lmbrd2
|
APN |
15 |
9,186,772 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02176:Lmbrd2
|
APN |
15 |
9,182,661 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02293:Lmbrd2
|
APN |
15 |
9,172,276 (GRCm39) |
missense |
probably benign |
|
|
IGL03101:Lmbrd2
|
APN |
15 |
9,186,695 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0102:Lmbrd2
|
UTSW |
15 |
9,184,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0370:Lmbrd2
|
UTSW |
15 |
9,165,939 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0379:Lmbrd2
|
UTSW |
15 |
9,149,566 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0513:Lmbrd2
|
UTSW |
15 |
9,194,816 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1610:Lmbrd2
|
UTSW |
15 |
9,186,699 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1628:Lmbrd2
|
UTSW |
15 |
9,182,593 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1844:Lmbrd2
|
UTSW |
15 |
9,177,838 (GRCm39) |
nonsense |
probably null |
|
|
R2422:Lmbrd2
|
UTSW |
15 |
9,194,852 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R3614:Lmbrd2
|
UTSW |
15 |
9,177,798 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3924:Lmbrd2
|
UTSW |
15 |
9,149,624 (GRCm39) |
missense |
probably benign |
|
|
R4014:Lmbrd2
|
UTSW |
15 |
9,151,672 (GRCm39) |
splice site |
probably benign |
|
|
R4298:Lmbrd2
|
UTSW |
15 |
9,165,882 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5126:Lmbrd2
|
UTSW |
15 |
9,194,788 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5699:Lmbrd2
|
UTSW |
15 |
9,175,269 (GRCm39) |
missense |
probably benign |
0.40 |
|
R5841:Lmbrd2
|
UTSW |
15 |
9,182,657 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5974:Lmbrd2
|
UTSW |
15 |
9,172,202 (GRCm39) |
missense |
probably benign |
0.25 |
|
R5988:Lmbrd2
|
UTSW |
15 |
9,182,493 (GRCm39) |
splice site |
probably null |
|
|
R6179:Lmbrd2
|
UTSW |
15 |
9,149,262 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6666:Lmbrd2
|
UTSW |
15 |
9,151,656 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7180:Lmbrd2
|
UTSW |
15 |
9,175,283 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7269:Lmbrd2
|
UTSW |
15 |
9,194,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7341:Lmbrd2
|
UTSW |
15 |
9,165,906 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R8017:Lmbrd2
|
UTSW |
15 |
9,172,317 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8066:Lmbrd2
|
UTSW |
15 |
9,172,172 (GRCm39) |
missense |
probably benign |
0.35 |
|
R8110:Lmbrd2
|
UTSW |
15 |
9,175,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8393:Lmbrd2
|
UTSW |
15 |
9,178,437 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8401:Lmbrd2
|
UTSW |
15 |
9,156,294 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8922:Lmbrd2
|
UTSW |
15 |
9,172,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9009:Lmbrd2
|
UTSW |
15 |
9,157,311 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9434:Lmbrd2
|
UTSW |
15 |
9,157,314 (GRCm39) |
missense |
probably benign |
0.05 |
|
| Posted On |
2015-04-16 |
Incidental Mutation