Incidental Mutation 'R4415:Lad1'
| ID |
326778 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lad1
|
| Ensembl Gene |
ENSMUSG00000041782 |
| Gene Name |
ladinin |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R4415 (G1)
|
| Quality Score |
225 |
|
Status
|
Not 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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ace3 |
A |
T |
11: 105,895,947 (GRCm39) |
D631V |
probably benign |
Het |
| Adam17 |
T |
C |
12: 21,395,702 (GRCm39) |
I274V |
possibly damaging |
Het |
| Aebp1 |
A |
G |
11: 5,815,451 (GRCm39) |
D303G |
probably damaging |
Het |
| B020004C17Rik |
T |
C |
14: 57,254,874 (GRCm39) |
*233R |
probably null |
Het |
| Bcl9l |
C |
T |
9: 44,413,176 (GRCm39) |
P127S |
possibly damaging |
Het |
| Bdp1 |
T |
C |
13: 100,167,369 (GRCm39) |
D2215G |
probably damaging |
Het |
| Caly |
T |
C |
7: 139,652,593 (GRCm39) |
T52A |
probably damaging |
Het |
| Ccdc125 |
T |
C |
13: 100,832,817 (GRCm39) |
S465P |
possibly damaging |
Het |
| Cdc23 |
ACC |
AC |
18: 34,770,371 (GRCm39) |
|
probably null |
Het |
| Colq |
T |
C |
14: 31,257,645 (GRCm39) |
K231E |
probably damaging |
Het |
| Fam32a |
T |
A |
8: 72,975,785 (GRCm39) |
I77N |
probably damaging |
Het |
| Impdh1 |
C |
T |
6: 29,209,221 (GRCm39) |
V49M |
probably damaging |
Het |
| Kcnh7 |
A |
G |
2: 62,536,417 (GRCm39) |
I1055T |
probably damaging |
Het |
| Lama2 |
G |
T |
10: 26,865,340 (GRCm39) |
Y947* |
probably null |
Het |
| Myo5b |
T |
A |
18: 74,713,479 (GRCm39) |
I108N |
probably damaging |
Het |
| Nvl |
T |
C |
1: 180,932,679 (GRCm39) |
T713A |
probably benign |
Het |
| Oit3 |
T |
C |
10: 59,263,925 (GRCm39) |
Y403C |
probably damaging |
Het |
| Or6c70 |
T |
C |
10: 129,709,826 (GRCm39) |
T267A |
probably benign |
Het |
| Pappa |
A |
G |
4: 65,223,532 (GRCm39) |
T1236A |
probably benign |
Het |
| Pip4p2 |
C |
T |
4: 14,912,463 (GRCm39) |
R191C |
probably damaging |
Het |
| Rcl1 |
G |
A |
19: 29,095,762 (GRCm39) |
V116I |
probably benign |
Het |
| Rdh14 |
G |
A |
12: 10,441,231 (GRCm39) |
|
probably null |
Het |
| Rfx2 |
T |
A |
17: 57,094,733 (GRCm39) |
T204S |
possibly damaging |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Ripor1 |
T |
C |
8: 106,344,608 (GRCm39) |
S581P |
probably benign |
Het |
| Rnf213 |
T |
A |
11: 119,374,790 (GRCm39) |
V5084E |
probably damaging |
Het |
| Scn9a |
A |
T |
2: 66,357,037 (GRCm39) |
V1077E |
probably damaging |
Het |
| Slc15a5 |
A |
G |
6: 138,056,754 (GRCm39) |
V54A |
probably benign |
Het |
| Slc35b2 |
G |
A |
17: 45,877,355 (GRCm39) |
V161M |
probably benign |
Het |
| Snx19 |
T |
A |
9: 30,348,779 (GRCm39) |
L804Q |
probably damaging |
Het |
| Spata31e5 |
T |
A |
1: 28,816,214 (GRCm39) |
Q606L |
probably benign |
Het |
| Specc1l |
C |
A |
10: 75,082,162 (GRCm39) |
N519K |
possibly damaging |
Het |
| Spmip6 |
T |
C |
4: 41,505,574 (GRCm39) |
T183A |
possibly damaging |
Het |
| Stambp |
A |
T |
6: 83,534,464 (GRCm39) |
N274K |
probably damaging |
Het |
| Stox1 |
T |
C |
10: 62,495,348 (GRCm39) |
N975S |
probably benign |
Het |
| Tacc3 |
T |
G |
5: 33,824,028 (GRCm39) |
|
probably null |
Het |
| Tubb1 |
G |
A |
2: 174,299,466 (GRCm39) |
E383K |
probably benign |
Het |
| Ube3b |
A |
T |
5: 114,550,505 (GRCm39) |
D844V |
probably damaging |
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 |
|
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'- AAGAAGACCCTTCCTATTGTCTAAC -3'
Sequencing Primer
(F):5'- CTGGGCTACATGAGACTATATAGCC -3'
(R):5'- GACCCTTCCTATTGTCTAACATACAG -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation