Incidental Mutation 'R4240:Lad1'
ID |
320147 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lad1
|
Ensembl Gene |
ENSMUSG00000041782 |
Gene Name |
ladinin |
Synonyms |
|
MMRRC Submission |
041057-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.062)
|
Stock # |
R4240 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
135746336-135761079 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 135755033 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Aspartic acid
at position 103
(V103D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000044630
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038760]
|
AlphaFold |
P57016 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000038760
AA Change: V103D
PolyPhen 2
Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000044630 Gene: ENSMUSG00000041782 AA Change: V103D
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
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.7%
|
Validation Efficiency |
93% (50/54) |
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4833420G17Rik |
C |
T |
13: 119,603,478 (GRCm39) |
P93S |
probably benign |
Het |
4930488N24Rik |
A |
T |
17: 14,326,049 (GRCm39) |
|
noncoding transcript |
Het |
Areg |
A |
T |
5: 91,291,375 (GRCm39) |
N106I |
probably damaging |
Het |
Ceacam3 |
G |
A |
7: 16,893,949 (GRCm39) |
E487K |
possibly damaging |
Het |
Cfap46 |
G |
T |
7: 139,246,203 (GRCm39) |
Q387K |
possibly damaging |
Het |
Cfap74 |
C |
A |
4: 155,547,529 (GRCm39) |
H1238Q |
probably benign |
Het |
Cnot6l |
T |
C |
5: 96,225,221 (GRCm39) |
T491A |
probably benign |
Het |
Cog7 |
C |
T |
7: 121,524,707 (GRCm39) |
V696M |
possibly damaging |
Het |
Col22a1 |
C |
T |
15: 71,878,980 (GRCm39) |
G59D |
probably damaging |
Het |
Ddi1 |
A |
G |
9: 6,265,799 (GRCm39) |
M190T |
probably benign |
Het |
Eno1b |
T |
A |
18: 48,180,907 (GRCm39) |
S362T |
probably benign |
Het |
Erbb2 |
A |
G |
11: 98,318,869 (GRCm39) |
K549R |
probably benign |
Het |
Fam170a |
A |
T |
18: 50,414,734 (GRCm39) |
M127L |
possibly damaging |
Het |
Gm1979 |
T |
C |
5: 26,206,119 (GRCm39) |
T154A |
probably benign |
Het |
Gm6871 |
G |
T |
7: 41,195,204 (GRCm39) |
T511K |
probably damaging |
Het |
Hsf4 |
A |
G |
8: 106,001,513 (GRCm39) |
T378A |
possibly damaging |
Het |
Irf2bpl |
C |
A |
12: 86,929,691 (GRCm39) |
Q327H |
possibly damaging |
Het |
Klk6 |
A |
G |
7: 43,478,597 (GRCm39) |
H168R |
probably benign |
Het |
Kmt2d |
G |
A |
15: 98,742,452 (GRCm39) |
|
probably benign |
Het |
Kplce |
T |
C |
3: 92,775,898 (GRCm39) |
I262V |
possibly damaging |
Het |
Mcm4 |
A |
T |
16: 15,445,570 (GRCm39) |
Y692* |
probably null |
Het |
Med15 |
C |
T |
16: 17,473,358 (GRCm39) |
R497H |
probably damaging |
Het |
Mfrp |
T |
C |
9: 44,014,163 (GRCm39) |
V177A |
possibly damaging |
Het |
Mr1 |
T |
C |
1: 155,012,413 (GRCm39) |
E167G |
probably damaging |
Het |
Myo18b |
A |
G |
5: 112,951,053 (GRCm39) |
|
probably null |
Het |
Myom2 |
A |
G |
8: 15,182,895 (GRCm39) |
D1444G |
probably benign |
Het |
Nes |
C |
A |
3: 87,886,666 (GRCm39) |
P1598T |
probably damaging |
Het |
Nlrp4d |
A |
T |
7: 10,115,243 (GRCm39) |
H479Q |
noncoding transcript |
Het |
Nphp4 |
A |
G |
4: 152,640,141 (GRCm39) |
D1009G |
probably benign |
Het |
Or13a25 |
A |
G |
7: 140,247,496 (GRCm39) |
N99D |
probably benign |
Het |
Pate10 |
T |
A |
9: 35,653,449 (GRCm39) |
Y84* |
probably null |
Het |
Phactr1 |
T |
A |
13: 43,248,363 (GRCm39) |
N437K |
possibly damaging |
Het |
Polq |
G |
T |
16: 36,833,543 (GRCm39) |
V79F |
probably damaging |
Het |
Prc1 |
G |
A |
7: 79,960,964 (GRCm39) |
|
probably benign |
Het |
Rdh7 |
T |
C |
10: 127,721,671 (GRCm39) |
I202V |
probably benign |
Het |
Rsf1 |
C |
CGGCGGCGGT |
7: 97,229,142 (GRCm39) |
|
probably benign |
Het |
Sgsm3 |
A |
G |
15: 80,895,983 (GRCm39) |
|
probably benign |
Het |
Sipa1l2 |
T |
C |
8: 126,218,395 (GRCm39) |
E314G |
probably benign |
Het |
Slc8a3 |
T |
C |
12: 81,361,950 (GRCm39) |
K290E |
probably damaging |
Het |
Tbc1d17 |
T |
C |
7: 44,496,250 (GRCm39) |
Y84C |
probably damaging |
Het |
Usp46 |
T |
G |
5: 74,192,928 (GRCm39) |
|
probably benign |
Het |
Vmn2r14 |
T |
G |
5: 109,364,277 (GRCm39) |
|
probably null |
Het |
Vmn2r8 |
A |
T |
5: 108,945,369 (GRCm39) |
V746D |
probably damaging |
Het |
Xdh |
A |
G |
17: 74,202,790 (GRCm39) |
V1120A |
possibly damaging |
Het |
Zbtb38 |
CTCTTCTTCTTCTTCTTCTTCTTC |
CTCTTCTTCTTCTTCTTCTTC |
9: 96,568,155 (GRCm39) |
|
probably benign |
Het |
Zfp791 |
T |
C |
8: 85,836,295 (GRCm39) |
H523R |
probably null |
Het |
Zfp870 |
A |
G |
17: 33,104,710 (GRCm39) |
I53T |
probably benign |
Het |
|
Other mutations in Lad1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL03259:Lad1
|
APN |
1 |
135,755,394 (GRCm39) |
missense |
probably benign |
0.07 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CTCACTGAGTCAGCTGTACTC -3'
(R):5'- GCAAGCTCTCTGTTCTTTAGGC -3'
Sequencing Primer
(F):5'- AGTCAGCTGTACTCGGGGTC -3'
(R):5'- AGGCGTTCTTCGTCCTGG -3'
|
Posted On |
2015-06-12 |