Incidental Mutation 'IGL03259:Lad1'
| ID |
414768 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lad1
|
| Ensembl Gene |
ENSMUSG00000041782 |
| Gene Name |
ladinin |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
IGL03259
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
135746336-135761079 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 135755394 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 223
(R223S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044630
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038760]
|
| AlphaFold |
P57016 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038760
AA Change: R223S
PolyPhen 2
Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000044630
Gene: ENSMUSG00000041782
AA Change: R223S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
35 |
N/A |
INTRINSIC |
|
low complexity region
|
88 |
110 |
N/A |
INTRINSIC |
|
low complexity region
|
365 |
377 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185756
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190773
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene may be an anchoring filament that is a component of basement membranes. It may contribute to the stability of the association of the epithelial layers with the underlying mesenchyme. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp8a1 |
T |
C |
5: 67,781,349 (GRCm39) |
|
probably null |
Het |
| Btbd3 |
T |
C |
2: 138,121,680 (GRCm39) |
M121T |
probably damaging |
Het |
| Cep192 |
A |
T |
18: 67,953,483 (GRCm39) |
N500I |
probably damaging |
Het |
| Clca4a |
A |
G |
3: 144,663,841 (GRCm39) |
L534P |
probably damaging |
Het |
| Cyp2d11 |
C |
T |
15: 82,274,221 (GRCm39) |
V387M |
probably damaging |
Het |
| Dlgap3 |
T |
C |
4: 127,094,077 (GRCm39) |
I443T |
probably benign |
Het |
| Heatr5b |
T |
A |
17: 79,098,985 (GRCm39) |
D1305V |
probably damaging |
Het |
| Hps5 |
G |
T |
7: 46,412,526 (GRCm39) |
P1021Q |
probably damaging |
Het |
| Iqca1 |
T |
C |
1: 89,980,156 (GRCm39) |
D637G |
probably damaging |
Het |
| Kank1 |
A |
G |
19: 25,407,705 (GRCm39) |
D1233G |
probably damaging |
Het |
| Ms4a13 |
A |
G |
19: 11,161,210 (GRCm39) |
S110P |
probably damaging |
Het |
| Nmd3 |
T |
A |
3: 69,652,576 (GRCm39) |
D387E |
possibly damaging |
Het |
| Or1m1 |
A |
G |
9: 18,666,811 (GRCm39) |
V40A |
probably benign |
Het |
| Or7a41 |
C |
A |
10: 78,871,234 (GRCm39) |
Y201* |
probably null |
Het |
| Or8k3b |
G |
T |
2: 86,520,894 (GRCm39) |
Q142K |
probably benign |
Het |
| Pcgf5 |
T |
A |
19: 36,433,059 (GRCm39) |
D234E |
probably benign |
Het |
| Pcnx2 |
T |
A |
8: 126,480,388 (GRCm39) |
H1973L |
probably benign |
Het |
| Peak1 |
A |
G |
9: 56,167,251 (GRCm39) |
F226L |
probably damaging |
Het |
| Pgp |
A |
G |
17: 24,690,022 (GRCm39) |
K180R |
probably damaging |
Het |
| Sdk1 |
A |
T |
5: 141,938,788 (GRCm39) |
K404* |
probably null |
Het |
| Serinc5 |
T |
A |
13: 92,827,500 (GRCm39) |
V272D |
probably damaging |
Het |
| Slc4a5 |
A |
G |
6: 83,247,979 (GRCm39) |
H395R |
probably damaging |
Het |
| Spice1 |
T |
A |
16: 44,176,530 (GRCm39) |
V40D |
probably damaging |
Het |
| Syne2 |
A |
G |
12: 76,035,853 (GRCm39) |
I3713M |
probably benign |
Het |
| Vmn1r58 |
A |
T |
7: 5,414,086 (GRCm39) |
L48* |
probably null |
Het |
| Vwa7 |
A |
G |
17: 35,239,002 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Lad1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03323:Lad1
|
APN |
1 |
135,758,712 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1728:Lad1
|
UTSW |
1 |
135,755,761 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1728:Lad1
|
UTSW |
1 |
135,755,119 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1729:Lad1
|
UTSW |
1 |
135,755,761 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1729:Lad1
|
UTSW |
1 |
135,755,119 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1730:Lad1
|
UTSW |
1 |
135,755,761 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1730:Lad1
|
UTSW |
1 |
135,755,119 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1739:Lad1
|
UTSW |
1 |
135,755,761 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1739:Lad1
|
UTSW |
1 |
135,755,119 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1762:Lad1
|
UTSW |
1 |
135,755,761 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1762:Lad1
|
UTSW |
1 |
135,755,119 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1783:Lad1
|
UTSW |
1 |
135,755,761 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1783:Lad1
|
UTSW |
1 |
135,755,119 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1784:Lad1
|
UTSW |
1 |
135,755,761 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1784:Lad1
|
UTSW |
1 |
135,755,119 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1785:Lad1
|
UTSW |
1 |
135,755,761 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1785:Lad1
|
UTSW |
1 |
135,755,119 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1837:Lad1
|
UTSW |
1 |
135,757,444 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1854:Lad1
|
UTSW |
1 |
135,755,468 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4066:Lad1
|
UTSW |
1 |
135,755,165 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4240:Lad1
|
UTSW |
1 |
135,755,033 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R4414:Lad1
|
UTSW |
1 |
135,756,484 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4415:Lad1
|
UTSW |
1 |
135,756,484 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4417:Lad1
|
UTSW |
1 |
135,756,484 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4770:Lad1
|
UTSW |
1 |
135,753,531 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6419:Lad1
|
UTSW |
1 |
135,759,630 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6824:Lad1
|
UTSW |
1 |
135,755,479 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6905:Lad1
|
UTSW |
1 |
135,755,618 (GRCm39) |
missense |
probably benign |
0.40 |
|
R7353:Lad1
|
UTSW |
1 |
135,755,513 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7427:Lad1
|
UTSW |
1 |
135,753,576 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7918:Lad1
|
UTSW |
1 |
135,757,454 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8261:Lad1
|
UTSW |
1 |
135,755,500 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8368:Lad1
|
UTSW |
1 |
135,759,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8743:Lad1
|
UTSW |
1 |
135,758,933 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8841:Lad1
|
UTSW |
1 |
135,754,970 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9197:Lad1
|
UTSW |
1 |
135,759,630 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9619:Lad1
|
UTSW |
1 |
135,755,521 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
X0024:Lad1
|
UTSW |
1 |
135,758,671 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation