Incidental Mutation 'IGL00864:Lmbrd2'
| ID |
12708 |
| 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 # |
IGL00864
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
9140637-9202569 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 9175297 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 403
(S403P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154020
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090380]
[ENSMUST00000227556]
|
| AlphaFold |
Q8C561 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090380
|
| SMART Domains |
Protein: ENSMUSP00000087858
Gene: ENSMUSG00000039704
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LMBR1
|
8 |
546 |
4.2e-192 |
PFAM |
|
low complexity region
|
574 |
598 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227216
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000227556
AA Change: S403P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921539E11Rik |
T |
C |
4: 103,092,895 (GRCm39) |
D142G |
probably damaging |
Het |
| Ap2b1 |
A |
C |
11: 83,223,984 (GRCm39) |
D195A |
probably damaging |
Het |
| Asxl3 |
T |
A |
18: 22,655,503 (GRCm39) |
I1171K |
probably benign |
Het |
| Atm |
T |
C |
9: 53,445,233 (GRCm39) |
S2G |
probably damaging |
Het |
| Crygd |
C |
T |
1: 65,101,250 (GRCm39) |
R115Q |
probably benign |
Het |
| Ephx1 |
A |
G |
1: 180,818,016 (GRCm39) |
S356P |
probably damaging |
Het |
| H1f8 |
A |
G |
6: 115,925,587 (GRCm39) |
K128R |
probably damaging |
Het |
| Il12rb2 |
A |
G |
6: 67,313,738 (GRCm39) |
I6T |
probably benign |
Het |
| Itm2b |
T |
C |
14: 73,600,575 (GRCm39) |
K242E |
probably damaging |
Het |
| Kcnq5 |
T |
A |
1: 21,575,987 (GRCm39) |
Q239L |
probably damaging |
Het |
| Ola1 |
A |
T |
2: 72,987,241 (GRCm39) |
D130E |
probably benign |
Het |
| Opcml |
G |
A |
9: 28,812,886 (GRCm39) |
E193K |
probably damaging |
Het |
| Opcml |
A |
C |
9: 28,812,887 (GRCm39) |
E193A |
probably damaging |
Het |
| Rab44 |
T |
C |
17: 29,358,711 (GRCm39) |
S300P |
probably benign |
Het |
| Sergef |
C |
A |
7: 46,165,087 (GRCm39) |
|
probably null |
Het |
| Slc6a2 |
T |
C |
8: 93,722,622 (GRCm39) |
F540L |
probably benign |
Het |
| Spag6l |
A |
G |
16: 16,598,597 (GRCm39) |
V298A |
probably benign |
Het |
| Svep1 |
G |
T |
4: 58,068,533 (GRCm39) |
Y3084* |
probably null |
Het |
| Tbc1d4 |
T |
A |
14: 101,682,002 (GRCm39) |
D1235V |
probably benign |
Het |
| Tlr9 |
T |
C |
9: 106,102,206 (GRCm39) |
L499P |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,544,178 (GRCm39) |
S24609F |
probably damaging |
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 |
|
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 |
|
|
IGL02692:Lmbrd2
|
APN |
15 |
9,149,155 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
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 |
2012-12-06 |
Incidental Mutation