Incidental Mutation 'IGL03267:Lca5l'
ID |
415120 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Lca5l
|
Ensembl Gene |
ENSMUSG00000045275 |
Gene Name |
Leber congenital amaurosis 5-like |
Synonyms |
4921526F01Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.077)
|
Stock # |
IGL03267
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
95959605-95993450 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 95960983 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Leucine
at position 498
(Q498L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000061337
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023913]
[ENSMUST00000054855]
[ENSMUST00000113804]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000023913
|
SMART Domains |
Protein: ENSMUSP00000023913 Gene: ENSMUSG00000023147
Domain | Start | End | E-Value | Type |
Pfam:CHD5
|
12 |
163 |
1.4e-36 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000054855
AA Change: Q498L
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000061337 Gene: ENSMUSG00000045275 AA Change: Q498L
Domain | Start | End | E-Value | Type |
low complexity region
|
39 |
53 |
N/A |
INTRINSIC |
Pfam:Lebercilin
|
144 |
336 |
5.6e-68 |
PFAM |
low complexity region
|
528 |
544 |
N/A |
INTRINSIC |
low complexity region
|
654 |
670 |
N/A |
INTRINSIC |
low complexity region
|
679 |
688 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000113804
AA Change: Q493L
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000109435 Gene: ENSMUSG00000045275 AA Change: Q493L
Domain | Start | End | E-Value | Type |
low complexity region
|
34 |
48 |
N/A |
INTRINSIC |
Pfam:Lebercilin
|
138 |
331 |
1.9e-71 |
PFAM |
low complexity region
|
523 |
539 |
N/A |
INTRINSIC |
low complexity region
|
649 |
665 |
N/A |
INTRINSIC |
low complexity region
|
674 |
683 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142620
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acad10 |
C |
T |
5: 121,775,412 (GRCm39) |
R430Q |
probably benign |
Het |
Arfgef3 |
T |
A |
10: 18,467,630 (GRCm39) |
I1857F |
probably damaging |
Het |
Baat |
T |
A |
4: 49,490,050 (GRCm39) |
M345L |
probably benign |
Het |
Babam1 |
T |
G |
8: 71,855,708 (GRCm39) |
|
probably null |
Het |
Bbs7 |
A |
G |
3: 36,627,654 (GRCm39) |
F711S |
probably damaging |
Het |
Btrc |
A |
G |
19: 45,507,262 (GRCm39) |
E458G |
probably damaging |
Het |
Car6 |
T |
C |
4: 150,280,503 (GRCm39) |
|
probably benign |
Het |
Celsr3 |
T |
C |
9: 108,713,724 (GRCm39) |
|
probably benign |
Het |
Csn2 |
A |
G |
5: 87,845,930 (GRCm39) |
V3A |
possibly damaging |
Het |
Ddc |
T |
C |
11: 11,826,303 (GRCm39) |
Y86C |
probably damaging |
Het |
Dennd1b |
A |
T |
1: 138,990,599 (GRCm39) |
R188* |
probably null |
Het |
Dnah1 |
C |
A |
14: 31,008,545 (GRCm39) |
A2046S |
probably benign |
Het |
Duxf4 |
T |
C |
10: 58,071,609 (GRCm39) |
T202A |
probably damaging |
Het |
Eif2b4 |
A |
T |
5: 31,350,003 (GRCm39) |
S20T |
possibly damaging |
Het |
Etl4 |
T |
A |
2: 20,789,993 (GRCm39) |
C916* |
probably null |
Het |
Fam78a |
T |
C |
2: 31,959,679 (GRCm39) |
I144V |
probably benign |
Het |
Fcho1 |
A |
G |
8: 72,164,943 (GRCm39) |
|
probably benign |
Het |
Il9r |
T |
A |
11: 32,141,778 (GRCm39) |
H320L |
possibly damaging |
Het |
Kntc1 |
C |
T |
5: 123,896,543 (GRCm39) |
T135M |
probably damaging |
Het |
Map4k3 |
T |
C |
17: 80,971,457 (GRCm39) |
H70R |
probably damaging |
Het |
Mrps26 |
A |
G |
2: 130,406,856 (GRCm39) |
|
probably null |
Het |
Or1j20 |
G |
T |
2: 36,760,513 (GRCm39) |
A312S |
probably benign |
Het |
Or4k5 |
A |
G |
14: 50,386,304 (GRCm39) |
V9A |
probably damaging |
Het |
Or8j3b |
A |
T |
2: 86,204,978 (GRCm39) |
Y259* |
probably null |
Het |
Pik3cg |
C |
A |
12: 32,255,307 (GRCm39) |
G227C |
possibly damaging |
Het |
Ptprn2 |
C |
T |
12: 116,839,964 (GRCm39) |
Q496* |
probably null |
Het |
Rif1 |
T |
G |
2: 51,967,000 (GRCm39) |
N96K |
possibly damaging |
Het |
Rreb1 |
A |
C |
13: 38,116,169 (GRCm39) |
D1176A |
probably benign |
Het |
Slc22a30 |
A |
G |
19: 8,315,322 (GRCm39) |
I436T |
probably benign |
Het |
Slc51a |
G |
A |
16: 32,297,568 (GRCm39) |
R110C |
probably damaging |
Het |
Spata31e5 |
G |
A |
1: 28,816,202 (GRCm39) |
T610I |
probably damaging |
Het |
Stab1 |
A |
G |
14: 30,864,686 (GRCm39) |
C1950R |
probably damaging |
Het |
Tns2 |
T |
C |
15: 102,013,813 (GRCm39) |
|
probably null |
Het |
Ttf2 |
G |
A |
3: 100,852,120 (GRCm39) |
R1009* |
probably null |
Het |
Wfdc16 |
A |
G |
2: 164,480,462 (GRCm39) |
V11A |
possibly damaging |
Het |
Zfp367 |
A |
G |
13: 64,292,097 (GRCm39) |
|
probably benign |
Het |
Zfp420 |
G |
A |
7: 29,574,908 (GRCm39) |
R376H |
probably damaging |
Het |
|
Other mutations in Lca5l |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00667:Lca5l
|
APN |
16 |
95,962,612 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL02893:Lca5l
|
APN |
16 |
95,980,113 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03056:Lca5l
|
APN |
16 |
95,962,551 (GRCm39) |
missense |
probably benign |
0.26 |
IGL03208:Lca5l
|
APN |
16 |
95,980,046 (GRCm39) |
missense |
probably damaging |
0.98 |
R0417:Lca5l
|
UTSW |
16 |
95,963,853 (GRCm39) |
missense |
probably damaging |
1.00 |
R0961:Lca5l
|
UTSW |
16 |
95,962,560 (GRCm39) |
missense |
possibly damaging |
0.90 |
R1458:Lca5l
|
UTSW |
16 |
95,961,059 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1650:Lca5l
|
UTSW |
16 |
95,980,140 (GRCm39) |
critical splice acceptor site |
probably null |
|
R1669:Lca5l
|
UTSW |
16 |
95,961,008 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1706:Lca5l
|
UTSW |
16 |
95,977,164 (GRCm39) |
missense |
probably benign |
0.41 |
R2004:Lca5l
|
UTSW |
16 |
95,977,218 (GRCm39) |
missense |
possibly damaging |
0.95 |
R2004:Lca5l
|
UTSW |
16 |
95,963,849 (GRCm39) |
missense |
probably damaging |
1.00 |
R4291:Lca5l
|
UTSW |
16 |
95,979,974 (GRCm39) |
missense |
probably damaging |
1.00 |
R4307:Lca5l
|
UTSW |
16 |
95,960,756 (GRCm39) |
unclassified |
probably benign |
|
R4824:Lca5l
|
UTSW |
16 |
95,963,229 (GRCm39) |
nonsense |
probably null |
|
R4920:Lca5l
|
UTSW |
16 |
95,980,035 (GRCm39) |
missense |
probably damaging |
1.00 |
R4991:Lca5l
|
UTSW |
16 |
95,960,932 (GRCm39) |
missense |
possibly damaging |
0.90 |
R5591:Lca5l
|
UTSW |
16 |
95,979,929 (GRCm39) |
missense |
probably damaging |
1.00 |
R5774:Lca5l
|
UTSW |
16 |
95,977,261 (GRCm39) |
missense |
probably benign |
0.22 |
R6243:Lca5l
|
UTSW |
16 |
95,980,112 (GRCm39) |
missense |
possibly damaging |
0.90 |
R6403:Lca5l
|
UTSW |
16 |
95,975,045 (GRCm39) |
missense |
probably benign |
0.41 |
R7153:Lca5l
|
UTSW |
16 |
95,975,009 (GRCm39) |
missense |
probably damaging |
0.98 |
R7754:Lca5l
|
UTSW |
16 |
95,960,761 (GRCm39) |
missense |
unknown |
|
R7758:Lca5l
|
UTSW |
16 |
95,980,037 (GRCm39) |
missense |
probably benign |
0.00 |
R7814:Lca5l
|
UTSW |
16 |
95,963,757 (GRCm39) |
critical splice donor site |
probably null |
|
R8357:Lca5l
|
UTSW |
16 |
95,960,908 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8401:Lca5l
|
UTSW |
16 |
95,963,760 (GRCm39) |
missense |
probably damaging |
0.99 |
R8457:Lca5l
|
UTSW |
16 |
95,960,908 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8527:Lca5l
|
UTSW |
16 |
95,960,438 (GRCm39) |
missense |
probably damaging |
1.00 |
R8807:Lca5l
|
UTSW |
16 |
95,979,808 (GRCm39) |
missense |
probably benign |
0.01 |
R9105:Lca5l
|
UTSW |
16 |
95,960,671 (GRCm39) |
missense |
probably damaging |
0.99 |
R9146:Lca5l
|
UTSW |
16 |
95,960,998 (GRCm39) |
missense |
probably damaging |
0.98 |
R9165:Lca5l
|
UTSW |
16 |
95,977,218 (GRCm39) |
missense |
probably damaging |
0.99 |
R9378:Lca5l
|
UTSW |
16 |
95,977,212 (GRCm39) |
missense |
probably damaging |
1.00 |
R9657:Lca5l
|
UTSW |
16 |
95,974,953 (GRCm39) |
nonsense |
probably null |
|
RF031:Lca5l
|
UTSW |
16 |
95,960,504 (GRCm39) |
frame shift |
probably null |
|
RF042:Lca5l
|
UTSW |
16 |
95,960,497 (GRCm39) |
frame shift |
probably null |
|
RF050:Lca5l
|
UTSW |
16 |
95,960,501 (GRCm39) |
small deletion |
probably benign |
|
RF059:Lca5l
|
UTSW |
16 |
95,960,501 (GRCm39) |
small deletion |
probably benign |
|
|
Posted On |
2016-08-02 |