Incidental Mutation 'R9197:Lad1'
| ID |
697971 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lad1
|
| Ensembl Gene |
ENSMUSG00000041782 |
| Gene Name |
ladinin |
| Synonyms |
|
| MMRRC Submission |
068956-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R9197 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
135746336-135761079 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 135759630 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 509
(S509T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044630
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038760]
[ENSMUST00000178204]
[ENSMUST00000188028]
[ENSMUST00000189355]
[ENSMUST00000189732]
[ENSMUST00000190451]
|
| AlphaFold |
P57016 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038760
AA Change: S509T
PolyPhen 2
Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000044630
Gene: ENSMUSG00000041782
AA Change: S509T
| 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 |
probably benign
Transcript: ENSMUST00000178204
|
| SMART Domains |
Protein: ENSMUSP00000137579
Gene: ENSMUSG00000026414
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
38 |
N/A |
INTRINSIC |
|
Pfam:Troponin
|
110 |
245 |
3.8e-34 |
PFAM |
|
Pfam:Troponin
|
238 |
300 |
4.3e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000188028
|
| SMART Domains |
Protein: ENSMUSP00000140941
Gene: ENSMUSG00000026414
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
41 |
N/A |
INTRINSIC |
|
Pfam:Troponin
|
110 |
251 |
3e-39 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189355
|
| SMART Domains |
Protein: ENSMUSP00000139919
Gene: ENSMUSG00000026414
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
31 |
N/A |
INTRINSIC |
|
Pfam:Troponin
|
96 |
240 |
1.6e-39 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189732
|
| SMART Domains |
Protein: ENSMUSP00000139669
Gene: ENSMUSG00000026414
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
35 |
N/A |
INTRINSIC |
|
Pfam:Troponin
|
100 |
244 |
1.7e-39 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190451
|
| SMART Domains |
Protein: ENSMUSP00000140282
Gene: ENSMUSG00000026414
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
31 |
N/A |
INTRINSIC |
|
PDB:2Z5H|T
|
85 |
114 |
3e-7 |
PDB |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
100% (44/44) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| BC048679 |
C |
T |
7: 81,144,966 (GRCm39) |
V126M |
probably benign |
Het |
| Brd2 |
T |
C |
17: 34,333,370 (GRCm39) |
Y427C |
probably damaging |
Het |
| Btbd1 |
T |
A |
7: 81,443,363 (GRCm39) |
T474S |
probably damaging |
Het |
| Cacna1c |
T |
C |
6: 118,590,950 (GRCm39) |
T1524A |
|
Het |
| Capn9 |
T |
A |
8: 125,340,600 (GRCm39) |
V588D |
probably damaging |
Het |
| Ccdc88b |
T |
C |
19: 6,833,213 (GRCm39) |
E278G |
probably damaging |
Het |
| Ccr3 |
T |
C |
9: 123,829,732 (GRCm39) |
S356P |
probably damaging |
Het |
| Cplane1 |
A |
T |
15: 8,280,536 (GRCm39) |
I2820F |
unknown |
Het |
| Cyfip1 |
C |
T |
7: 55,554,222 (GRCm39) |
H754Y |
probably null |
Het |
| Dolk |
A |
G |
2: 30,174,693 (GRCm39) |
S451P |
probably damaging |
Het |
| Elac2 |
G |
A |
11: 64,892,682 (GRCm39) |
A829T |
probably benign |
Het |
| Fahd2a |
T |
C |
2: 127,278,284 (GRCm39) |
I308V |
possibly damaging |
Het |
| Gm7168 |
T |
A |
17: 14,169,489 (GRCm39) |
N285K |
probably benign |
Het |
| Hgf |
T |
A |
5: 16,766,059 (GRCm39) |
V65E |
probably benign |
Het |
| Igsf21 |
A |
T |
4: 139,762,084 (GRCm39) |
L198Q |
probably benign |
Het |
| Il18rap |
C |
T |
1: 40,582,177 (GRCm39) |
T366M |
probably benign |
Het |
| Ipo4 |
C |
T |
14: 55,870,840 (GRCm39) |
R264H |
probably damaging |
Het |
| Jak2 |
C |
T |
19: 29,289,157 (GRCm39) |
T1103I |
probably benign |
Het |
| Kdm4d |
T |
A |
9: 14,375,537 (GRCm39) |
Y107F |
probably damaging |
Het |
| Lhx5 |
C |
A |
5: 120,573,446 (GRCm39) |
P143Q |
possibly damaging |
Het |
| Lilra6 |
T |
C |
7: 3,915,716 (GRCm39) |
T340A |
possibly damaging |
Het |
| Lrrc4 |
T |
C |
6: 28,831,318 (GRCm39) |
H99R |
probably benign |
Het |
| Mmp11 |
T |
A |
10: 75,763,067 (GRCm39) |
D175V |
probably damaging |
Het |
| Msh2 |
T |
A |
17: 88,026,943 (GRCm39) |
M813K |
possibly damaging |
Het |
| Mvp |
T |
C |
7: 126,588,959 (GRCm39) |
N603D |
probably damaging |
Het |
| Or5k3 |
T |
A |
16: 58,969,489 (GRCm39) |
I92N |
probably damaging |
Het |
| Or8c18 |
G |
A |
9: 38,204,080 (GRCm39) |
V280M |
possibly damaging |
Het |
| Pcdha2 |
A |
C |
18: 37,072,879 (GRCm39) |
Y170S |
probably damaging |
Het |
| Pcdhb19 |
G |
A |
18: 37,631,354 (GRCm39) |
C383Y |
probably damaging |
Het |
| Pcdhga2 |
A |
T |
18: 37,804,553 (GRCm39) |
D799V |
probably benign |
Het |
| Pias3 |
A |
G |
3: 96,611,064 (GRCm39) |
Y430C |
probably benign |
Het |
| Pign |
A |
G |
1: 105,516,818 (GRCm39) |
F575L |
probably benign |
Het |
| Rin3 |
A |
T |
12: 102,335,306 (GRCm39) |
I406F |
probably benign |
Het |
| Rpgrip1 |
A |
T |
14: 52,382,857 (GRCm39) |
E674D |
possibly damaging |
Het |
| Snx13 |
T |
C |
12: 35,155,196 (GRCm39) |
V420A |
probably benign |
Het |
| Spata31d1c |
A |
T |
13: 65,183,690 (GRCm39) |
M411L |
probably benign |
Het |
| Spata31h1 |
C |
A |
10: 82,120,401 (GRCm39) |
C4203F |
possibly damaging |
Het |
| Tmem150a |
T |
G |
6: 72,333,722 (GRCm39) |
M28R |
probably benign |
Het |
| Trp53 |
T |
C |
11: 69,480,000 (GRCm39) |
Y233H |
probably damaging |
Het |
| Ufl1 |
A |
G |
4: 25,250,519 (GRCm39) |
I778T |
possibly damaging |
Het |
| Vmn2r89 |
T |
A |
14: 51,693,596 (GRCm39) |
H315Q |
possibly damaging |
Het |
| Wapl |
T |
A |
14: 34,444,244 (GRCm39) |
N565K |
probably damaging |
Het |
| Zfhx2 |
G |
A |
14: 55,312,179 (GRCm39) |
Q172* |
probably null |
Het |
| Zfp592 |
T |
A |
7: 80,674,067 (GRCm39) |
S344T |
possibly damaging |
Het |
| Zfp970 |
T |
C |
2: 177,167,878 (GRCm39) |
I484T |
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 |
|
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 |
|
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'- GCTGTGGGGTAAGGACATAATC -3'
(R):5'- TGGTCATCTGAGAACACAGGG -3'
Sequencing Primer
(F):5'- TAAGGACATAATCTGTGGGTGAC -3'
(R):5'- TCATCTGAGAACACAGGGACAGAC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation