Incidental Mutation 'IGL00921:Layn'
| ID |
28157 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Layn
|
| Ensembl Gene |
ENSMUSG00000060594 |
| Gene Name |
layilin |
| Synonyms |
LOC244864, E030012M19Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
IGL00921
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
50966323-50988501 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 50968708 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 345
(T345I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096379
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098782]
[ENSMUST00000214452]
[ENSMUST00000217212]
|
| AlphaFold |
Q8C351 |
| PDB Structure |
Solution structure of the talin F3 in complex with layilin cytodomain [SOLUTION NMR]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000098782
AA Change: T345I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000096379
Gene: ENSMUSG00000060594
AA Change: T345I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
CLECT
|
41 |
185 |
6.18e-25 |
SMART |
|
transmembrane domain
|
237 |
259 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214452
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216453
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217212
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
G |
1: 71,324,888 (GRCm39) |
I1530T |
probably damaging |
Het |
| Actb |
T |
C |
5: 142,890,191 (GRCm39) |
E237G |
probably damaging |
Het |
| Atrnl1 |
A |
G |
19: 57,690,585 (GRCm39) |
E931G |
probably damaging |
Het |
| Cenpc1 |
T |
C |
5: 86,185,387 (GRCm39) |
T375A |
probably benign |
Het |
| D1Pas1 |
A |
G |
1: 186,700,983 (GRCm39) |
D304G |
probably benign |
Het |
| Ddx49 |
G |
A |
8: 70,747,406 (GRCm39) |
Q345* |
probably null |
Het |
| Dnttip2 |
A |
T |
3: 122,068,939 (GRCm39) |
K51N |
probably benign |
Het |
| Fxr2 |
A |
G |
11: 69,543,066 (GRCm39) |
E621G |
probably damaging |
Het |
| Grhpr |
A |
G |
4: 44,988,991 (GRCm39) |
D216G |
probably damaging |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Hook2 |
T |
C |
8: 85,729,126 (GRCm39) |
|
probably benign |
Het |
| Hspbp1 |
A |
G |
7: 4,667,750 (GRCm39) |
S248P |
probably damaging |
Het |
| Kat6a |
C |
T |
8: 23,430,279 (GRCm39) |
P1878L |
unknown |
Het |
| Klrg1 |
A |
T |
6: 122,259,711 (GRCm39) |
D20E |
probably benign |
Het |
| Mpi |
G |
A |
9: 57,459,549 (GRCm39) |
L9F |
probably damaging |
Het |
| Nbn |
T |
C |
4: 15,963,833 (GRCm39) |
V78A |
possibly damaging |
Het |
| Pkdrej |
A |
G |
15: 85,701,427 (GRCm39) |
I1503T |
probably damaging |
Het |
| Pou2f2 |
C |
A |
7: 24,792,125 (GRCm39) |
E577* |
probably null |
Het |
| Prim2 |
G |
T |
1: 33,551,241 (GRCm39) |
H292Q |
probably damaging |
Het |
| Tg |
A |
G |
15: 66,636,302 (GRCm39) |
N630D |
probably benign |
Het |
| Trim80 |
A |
G |
11: 115,338,490 (GRCm39) |
N440S |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,766,746 (GRCm39) |
S3111G |
probably damaging |
Het |
| Ubash3a |
A |
G |
17: 31,447,160 (GRCm39) |
T339A |
probably benign |
Het |
| Zbtb21 |
A |
C |
16: 97,753,222 (GRCm39) |
S354A |
probably damaging |
Het |
| Zfp335 |
T |
C |
2: 164,736,696 (GRCm39) |
T980A |
possibly damaging |
Het |
|
| Other mutations in Layn |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01145:Layn
|
APN |
9 |
50,985,346 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02006:Layn
|
APN |
9 |
50,968,591 (GRCm39) |
intron |
probably benign |
|
|
IGL02226:Layn
|
APN |
9 |
50,985,317 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4677001:Layn
|
UTSW |
9 |
50,968,711 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1464:Layn
|
UTSW |
9 |
50,968,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1464:Layn
|
UTSW |
9 |
50,968,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1775:Layn
|
UTSW |
9 |
50,970,833 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2156:Layn
|
UTSW |
9 |
50,968,697 (GRCm39) |
missense |
probably benign |
|
|
R3732:Layn
|
UTSW |
9 |
50,970,844 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3732:Layn
|
UTSW |
9 |
50,970,844 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3733:Layn
|
UTSW |
9 |
50,970,844 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3757:Layn
|
UTSW |
9 |
50,970,856 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4840:Layn
|
UTSW |
9 |
50,968,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5792:Layn
|
UTSW |
9 |
50,979,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7185:Layn
|
UTSW |
9 |
50,985,173 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R7216:Layn
|
UTSW |
9 |
50,988,352 (GRCm39) |
start gained |
probably benign |
|
|
R7404:Layn
|
UTSW |
9 |
50,968,670 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8784:Layn
|
UTSW |
9 |
50,970,781 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R9228:Layn
|
UTSW |
9 |
50,968,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9248:Layn
|
UTSW |
9 |
50,968,760 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R9725:Layn
|
UTSW |
9 |
50,968,775 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2013-04-17 |
Incidental Mutation