Incidental Mutation 'R6824:Lad1'
ID |
534034 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lad1
|
Ensembl Gene |
ENSMUSG00000041782 |
Gene Name |
ladinin |
Synonyms |
|
MMRRC Submission |
044936-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.062)
|
Stock # |
R6824 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
135746336-135761079 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 135755479 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 252
(T252A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000044630
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038760]
|
AlphaFold |
P57016 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000038760
AA Change: T252A
PolyPhen 2
Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000044630 Gene: ENSMUSG00000041782 AA Change: T252A
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
Validation Efficiency |
100% (47/47) |
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adck2 |
A |
G |
6: 39,552,058 (GRCm39) |
D275G |
probably benign |
Het |
Cdh4 |
G |
A |
2: 179,439,351 (GRCm39) |
R166H |
probably damaging |
Het |
Chl1 |
A |
G |
6: 103,691,510 (GRCm39) |
K1051E |
probably damaging |
Het |
Chn2 |
A |
T |
6: 54,249,938 (GRCm39) |
M16L |
probably benign |
Het |
Cmas |
A |
G |
6: 142,716,962 (GRCm39) |
T285A |
possibly damaging |
Het |
Cnga4 |
A |
T |
7: 105,056,036 (GRCm39) |
M213L |
probably benign |
Het |
Ctif |
C |
T |
18: 75,654,782 (GRCm39) |
R248Q |
probably damaging |
Het |
Cyth3 |
T |
C |
5: 143,672,265 (GRCm39) |
I60T |
probably damaging |
Het |
Dach1 |
A |
G |
14: 98,256,328 (GRCm39) |
I310T |
possibly damaging |
Het |
Defb6 |
T |
C |
8: 19,278,099 (GRCm39) |
I57T |
probably benign |
Het |
Dnajc27 |
T |
C |
12: 4,156,897 (GRCm39) |
V262A |
possibly damaging |
Het |
Emsy |
G |
A |
7: 98,242,614 (GRCm39) |
T1175M |
probably benign |
Het |
Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
Fam50b |
G |
A |
13: 34,931,084 (GRCm39) |
E187K |
possibly damaging |
Het |
Fat4 |
T |
A |
3: 39,011,674 (GRCm39) |
V2258E |
probably benign |
Het |
Gm136 |
G |
A |
4: 34,746,591 (GRCm39) |
T140I |
probably benign |
Het |
Gps1 |
T |
C |
11: 120,678,254 (GRCm39) |
F265S |
probably damaging |
Het |
Grik5 |
C |
T |
7: 24,745,780 (GRCm39) |
R431Q |
possibly damaging |
Het |
Hnrnpul2 |
T |
C |
19: 8,804,081 (GRCm39) |
V560A |
possibly damaging |
Het |
Kmt2b |
A |
G |
7: 30,285,701 (GRCm39) |
|
probably benign |
Het |
Krt8 |
T |
C |
15: 101,906,875 (GRCm39) |
N317S |
possibly damaging |
Het |
Maml2 |
G |
A |
9: 13,608,513 (GRCm39) |
S743N |
possibly damaging |
Het |
Mrpl9 |
C |
A |
3: 94,350,677 (GRCm39) |
P7H |
possibly damaging |
Het |
Myb |
T |
A |
10: 21,021,019 (GRCm39) |
H470L |
probably benign |
Het |
Nicol1 |
T |
C |
5: 34,141,069 (GRCm39) |
|
probably benign |
Het |
Nr1i3 |
T |
C |
1: 171,042,542 (GRCm39) |
I56T |
probably benign |
Het |
Nrdc |
A |
G |
4: 108,900,622 (GRCm39) |
Y338C |
probably damaging |
Het |
Or13n4 |
A |
G |
7: 106,423,664 (GRCm39) |
V23A |
probably benign |
Het |
Pcdhb20 |
T |
A |
18: 37,638,752 (GRCm39) |
M426K |
probably benign |
Het |
Pde6d |
T |
C |
1: 86,473,485 (GRCm39) |
T104A |
possibly damaging |
Het |
Ptprz1 |
A |
T |
6: 23,002,130 (GRCm39) |
T1407S |
probably benign |
Het |
Recql5 |
C |
T |
11: 115,814,038 (GRCm39) |
R369Q |
possibly damaging |
Het |
Rnf180 |
T |
A |
13: 105,318,023 (GRCm39) |
D463V |
probably damaging |
Het |
Sart3 |
C |
T |
5: 113,882,600 (GRCm39) |
|
probably null |
Het |
Sdk2 |
T |
C |
11: 113,758,760 (GRCm39) |
D488G |
probably benign |
Het |
Slc9a9 |
C |
T |
9: 95,109,251 (GRCm39) |
P538S |
probably damaging |
Het |
Snap29 |
A |
G |
16: 17,240,370 (GRCm39) |
K159E |
probably benign |
Het |
Spaca1 |
A |
G |
4: 34,049,869 (GRCm39) |
V43A |
probably benign |
Het |
Stk10 |
T |
C |
11: 32,537,363 (GRCm39) |
S191P |
probably damaging |
Het |
Tbc1d1 |
A |
G |
5: 64,414,245 (GRCm39) |
H73R |
probably benign |
Het |
Tcerg1l |
A |
G |
7: 137,995,844 (GRCm39) |
|
probably null |
Het |
Tmem67 |
T |
C |
4: 12,051,449 (GRCm39) |
Y793C |
probably damaging |
Het |
Ttll12 |
A |
T |
15: 83,475,578 (GRCm39) |
|
probably null |
Het |
Vmn2r61 |
G |
T |
7: 41,949,403 (GRCm39) |
V608L |
probably benign |
Het |
Xpo4 |
A |
T |
14: 57,850,860 (GRCm39) |
I348N |
probably damaging |
Het |
Zfp941 |
G |
A |
7: 140,392,612 (GRCm39) |
T249M |
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 |
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 |
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'- GCCTGCCAAAAGACTGGTTTC -3'
(R):5'- AGAAGGTGGGCTCTTGTCAG -3'
Sequencing Primer
(F):5'- ACTGGTTTCTGAGAAAGCCTGC -3'
(R):5'- TCTTGTCAGGGAGGGCC -3'
|
Posted On |
2018-09-12 |