Incidental Mutation 'IGL01525:Lrrc59'
| ID |
89531 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lrrc59
|
| Ensembl Gene |
ENSMUSG00000020869 |
| Gene Name |
leucine rich repeat containing 59 |
| Synonyms |
C78668 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.266)
|
| Stock # |
IGL01525
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
94520603-94536049 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 94525522 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 106
(Q106L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021239
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021239]
|
| AlphaFold |
Q922Q8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021239
AA Change: Q106L
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000021239
Gene: ENSMUSG00000020869
AA Change: Q106L
| Domain | Start | End | E-Value | Type |
|---|
|
LRR
|
38 |
60 |
6.22e0 |
SMART |
|
LRR
|
61 |
83 |
1.33e-1 |
SMART |
|
LRR
|
84 |
106 |
3.75e0 |
SMART |
|
LRR
|
107 |
131 |
1.09e2 |
SMART |
|
coiled coil region
|
148 |
216 |
N/A |
INTRINSIC |
|
transmembrane domain
|
244 |
266 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138782
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb1 |
A |
G |
15: 74,458,684 (GRCm39) |
E322G |
probably damaging |
Het |
| Aldh8a1 |
A |
T |
10: 21,267,472 (GRCm39) |
I286F |
probably damaging |
Het |
| Arnt2 |
T |
A |
7: 83,924,616 (GRCm39) |
T404S |
possibly damaging |
Het |
| Asb1 |
A |
G |
1: 91,479,846 (GRCm39) |
T190A |
probably damaging |
Het |
| Atp8b1 |
G |
A |
18: 64,672,323 (GRCm39) |
R1014* |
probably null |
Het |
| Dgcr8 |
T |
C |
16: 18,101,808 (GRCm39) |
D158G |
probably damaging |
Het |
| Dock5 |
A |
G |
14: 68,043,169 (GRCm39) |
|
probably benign |
Het |
| Fras1 |
C |
T |
5: 96,887,195 (GRCm39) |
T2659I |
probably damaging |
Het |
| Galt |
A |
G |
4: 41,756,068 (GRCm39) |
T45A |
probably benign |
Het |
| Gtpbp3 |
A |
G |
8: 71,943,078 (GRCm39) |
D164G |
probably damaging |
Het |
| Ift70b |
A |
T |
2: 75,767,226 (GRCm39) |
M509K |
probably damaging |
Het |
| Kmt2c |
T |
A |
5: 25,534,439 (GRCm39) |
|
probably benign |
Het |
| Mgat4c |
A |
G |
10: 102,214,057 (GRCm39) |
I13M |
probably damaging |
Het |
| Muc19 |
T |
A |
15: 91,770,877 (GRCm39) |
|
noncoding transcript |
Het |
| Myo5b |
C |
T |
18: 74,873,620 (GRCm39) |
A1508V |
probably damaging |
Het |
| Or2o1 |
A |
G |
11: 49,051,501 (GRCm39) |
Y220C |
probably damaging |
Het |
| Or52ad1 |
T |
A |
7: 102,995,386 (GRCm39) |
I250F |
probably benign |
Het |
| Or5d39 |
T |
C |
2: 87,980,221 (GRCm39) |
I47M |
probably benign |
Het |
| Plxna2 |
A |
G |
1: 194,394,619 (GRCm39) |
E500G |
probably benign |
Het |
| Psme4 |
T |
A |
11: 30,759,936 (GRCm39) |
|
probably benign |
Het |
| S100a8 |
A |
T |
3: 90,576,876 (GRCm39) |
S10C |
probably damaging |
Het |
| Sdk1 |
T |
C |
5: 141,985,675 (GRCm39) |
V769A |
probably damaging |
Het |
| Sorbs1 |
G |
T |
19: 40,338,422 (GRCm39) |
T326K |
probably damaging |
Het |
| Spata31d1b |
T |
C |
13: 59,860,280 (GRCm39) |
I51T |
probably benign |
Het |
| Thumpd3 |
T |
C |
6: 113,024,597 (GRCm39) |
S64P |
probably damaging |
Het |
| Ticrr |
T |
C |
7: 79,332,197 (GRCm39) |
L843P |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,108 (GRCm39) |
I13587N |
probably damaging |
Het |
| Txndc2 |
A |
G |
17: 65,945,908 (GRCm39) |
S90P |
possibly damaging |
Het |
|
| Other mutations in Lrrc59 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01321:Lrrc59
|
APN |
11 |
94,529,426 (GRCm39) |
nonsense |
probably null |
|
|
IGL01929:Lrrc59
|
APN |
11 |
94,534,342 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL01958:Lrrc59
|
APN |
11 |
94,529,354 (GRCm39) |
splice site |
probably null |
|
|
IGL02635:Lrrc59
|
APN |
11 |
94,534,282 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0277:Lrrc59
|
UTSW |
11 |
94,534,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0323:Lrrc59
|
UTSW |
11 |
94,534,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1794:Lrrc59
|
UTSW |
11 |
94,529,421 (GRCm39) |
missense |
probably benign |
|
|
R4833:Lrrc59
|
UTSW |
11 |
94,525,498 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6242:Lrrc59
|
UTSW |
11 |
94,525,809 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R6817:Lrrc59
|
UTSW |
11 |
94,520,891 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7709:Lrrc59
|
UTSW |
11 |
94,525,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7724:Lrrc59
|
UTSW |
11 |
94,534,170 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8066:Lrrc59
|
UTSW |
11 |
94,525,426 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9143:Lrrc59
|
UTSW |
11 |
94,525,456 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9166:Lrrc59
|
UTSW |
11 |
94,522,959 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9266:Lrrc59
|
UTSW |
11 |
94,532,044 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
Z1176:Lrrc59
|
UTSW |
11 |
94,534,147 (GRCm39) |
missense |
probably benign |
0.19 |
|
| Posted On |
2013-12-03 |
Incidental Mutation