Incidental Mutation 'R4414:Lad1'
| ID |
328045 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lad1
|
| Ensembl Gene |
ENSMUSG00000041782 |
| Gene Name |
ladinin |
| Synonyms |
|
| MMRRC Submission |
041694-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
R4414 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
135746336-135761079 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 135756484 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 364
(D364G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044630
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038760]
|
| AlphaFold |
P57016 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038760
AA Change: D364G
PolyPhen 2
Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000044630
Gene: ENSMUSG00000041782
AA Change: D364G
| 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 |
0.0946 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
100% (50/50) |
| 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 |
|---|
| 4930503E14Rik |
T |
A |
14: 44,406,690 (GRCm39) |
M120L |
probably benign |
Het |
| Aco2 |
A |
G |
15: 81,773,584 (GRCm39) |
|
probably null |
Het |
| Acss1 |
A |
G |
2: 150,501,823 (GRCm39) |
S115P |
possibly damaging |
Het |
| Ank2 |
A |
T |
3: 127,019,411 (GRCm39) |
|
probably null |
Het |
| AU041133 |
C |
T |
10: 81,987,316 (GRCm39) |
T323M |
probably damaging |
Het |
| Bdp1 |
T |
C |
13: 100,167,369 (GRCm39) |
D2215G |
probably damaging |
Het |
| Bod1l |
G |
A |
5: 41,977,870 (GRCm39) |
T1148I |
probably benign |
Het |
| Celsr1 |
C |
T |
15: 85,847,334 (GRCm39) |
V1468I |
probably benign |
Het |
| Celsr1 |
A |
G |
15: 85,812,200 (GRCm39) |
V2065A |
probably damaging |
Het |
| Cep89 |
A |
G |
7: 35,115,822 (GRCm39) |
|
probably benign |
Het |
| Cfap58 |
A |
G |
19: 47,941,480 (GRCm39) |
K283E |
possibly damaging |
Het |
| Cog5 |
C |
T |
12: 31,710,853 (GRCm39) |
Q78* |
probably null |
Het |
| Col20a1 |
C |
T |
2: 180,643,043 (GRCm39) |
R796C |
possibly damaging |
Het |
| Dnah7b |
A |
T |
1: 46,165,840 (GRCm39) |
T502S |
probably benign |
Het |
| Dnm1l |
A |
G |
16: 16,160,559 (GRCm39) |
|
probably null |
Het |
| Dse |
A |
T |
10: 34,028,632 (GRCm39) |
F819L |
probably benign |
Het |
| Eloa |
G |
T |
4: 135,738,553 (GRCm39) |
L136I |
possibly damaging |
Het |
| Eloa |
T |
A |
4: 135,738,576 (GRCm39) |
H128L |
probably benign |
Het |
| Fbxl6 |
T |
C |
15: 76,421,924 (GRCm39) |
E205G |
possibly damaging |
Het |
| Golim4 |
T |
G |
3: 75,802,347 (GRCm39) |
N287T |
probably benign |
Het |
| Gpx8 |
T |
A |
13: 113,179,682 (GRCm39) |
K206N |
possibly damaging |
Het |
| Iqgap3 |
G |
T |
3: 88,004,293 (GRCm39) |
V460F |
probably benign |
Het |
| Kcne4 |
A |
T |
1: 78,795,651 (GRCm39) |
M100L |
probably benign |
Het |
| Kmt2a |
A |
T |
9: 44,721,077 (GRCm39) |
|
probably benign |
Het |
| Ktn1 |
G |
A |
14: 47,962,387 (GRCm39) |
W1117* |
probably null |
Het |
| Lmln |
T |
G |
16: 32,930,220 (GRCm39) |
I559S |
probably benign |
Het |
| Mapk4 |
A |
T |
18: 74,063,609 (GRCm39) |
F538I |
possibly damaging |
Het |
| Mlxipl |
A |
G |
5: 135,166,253 (GRCm39) |
|
probably benign |
Het |
| Mmrn1 |
T |
C |
6: 60,921,570 (GRCm39) |
L9P |
probably damaging |
Het |
| Mnat1 |
G |
A |
12: 73,228,601 (GRCm39) |
R155H |
probably damaging |
Het |
| Mtmr11 |
T |
C |
3: 96,075,207 (GRCm39) |
|
probably benign |
Het |
| Naaladl1 |
T |
C |
19: 6,165,581 (GRCm39) |
L745P |
probably damaging |
Het |
| Obsl1 |
A |
T |
1: 75,467,546 (GRCm39) |
D1409E |
probably benign |
Het |
| Oit3 |
T |
C |
10: 59,263,925 (GRCm39) |
Y403C |
probably damaging |
Het |
| Pla2g4e |
A |
T |
2: 120,013,194 (GRCm39) |
H375Q |
probably benign |
Het |
| Prodh2 |
G |
A |
7: 30,205,877 (GRCm39) |
V238M |
probably damaging |
Het |
| Rdh14 |
G |
A |
12: 10,441,231 (GRCm39) |
|
probably null |
Het |
| Rho |
G |
A |
6: 115,912,191 (GRCm39) |
V76I |
probably benign |
Het |
| Rock1 |
A |
T |
18: 10,080,514 (GRCm39) |
M1010K |
probably damaging |
Het |
| Ros1 |
A |
G |
10: 52,038,800 (GRCm39) |
|
probably null |
Het |
| Sim1 |
A |
T |
10: 50,857,708 (GRCm39) |
D486V |
probably benign |
Het |
| Spmip6 |
T |
C |
4: 41,505,574 (GRCm39) |
T183A |
possibly damaging |
Het |
| Src |
A |
G |
2: 157,306,573 (GRCm39) |
D192G |
probably damaging |
Het |
| Stox1 |
T |
C |
10: 62,495,348 (GRCm39) |
N975S |
probably benign |
Het |
| Tmem145 |
A |
G |
7: 25,006,554 (GRCm39) |
Y54C |
probably damaging |
Het |
| Try4 |
C |
T |
6: 41,281,905 (GRCm39) |
P164S |
possibly damaging |
Het |
| Vegfc |
A |
T |
8: 54,634,130 (GRCm39) |
N270Y |
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 |
|
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'- ACTAAAGCTCTGCCTGGTGG -3'
(R):5'- GACCCTTCCTATTGTCTAACATACAG -3'
Sequencing Primer
(F):5'- CTGGGCTACATGAGACTATATAGCC -3'
(R):5'- CTATTGTCTAACATACAGCTCTTGC -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation