Incidental Mutation 'IGL02893:Lca5l'
ID |
363308 |
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 # |
IGL02893
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
95959605-95993450 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 95980113 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 6
(T6A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109435
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054855]
[ENSMUST00000113804]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000054855
AA Change: T11A
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000061337 Gene: ENSMUSG00000045275 AA Change: T11A
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: T6A
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000109435 Gene: ENSMUSG00000045275 AA Change: T6A
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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154445
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
T |
C |
11: 9,240,543 (GRCm39) |
V802A |
probably damaging |
Het |
Acsl6 |
G |
A |
11: 54,236,725 (GRCm39) |
V540M |
probably damaging |
Het |
Ahctf1 |
A |
C |
1: 179,603,576 (GRCm39) |
Y823* |
probably null |
Het |
Bbs1 |
T |
A |
19: 4,947,604 (GRCm39) |
K317* |
probably null |
Het |
Cand2 |
T |
C |
6: 115,768,921 (GRCm39) |
L577P |
probably damaging |
Het |
Cfap44 |
A |
T |
16: 44,237,180 (GRCm39) |
D449V |
probably damaging |
Het |
Col28a1 |
C |
T |
6: 8,103,534 (GRCm39) |
G421S |
probably damaging |
Het |
Dgkd |
A |
G |
1: 87,842,930 (GRCm39) |
|
probably benign |
Het |
Entpd1 |
T |
C |
19: 40,715,961 (GRCm39) |
V347A |
probably damaging |
Het |
Etl4 |
T |
A |
2: 20,765,021 (GRCm39) |
|
probably benign |
Het |
Fam20a |
G |
A |
11: 109,612,414 (GRCm39) |
A43V |
probably benign |
Het |
Fbxo9 |
A |
G |
9: 77,989,377 (GRCm39) |
|
probably benign |
Het |
Flg2 |
C |
T |
3: 93,110,920 (GRCm39) |
R983W |
unknown |
Het |
Gale |
T |
C |
4: 135,694,913 (GRCm39) |
V295A |
probably benign |
Het |
Gpr139 |
A |
T |
7: 118,744,366 (GRCm39) |
V73D |
probably damaging |
Het |
Hpca |
A |
T |
4: 129,012,215 (GRCm39) |
M107K |
probably damaging |
Het |
Igdcc4 |
G |
T |
9: 65,040,353 (GRCm39) |
V1002F |
probably damaging |
Het |
Irx4 |
T |
A |
13: 73,416,897 (GRCm39) |
L431H |
probably damaging |
Het |
Lrp4 |
C |
T |
2: 91,305,161 (GRCm39) |
R263C |
possibly damaging |
Het |
Meikin |
G |
A |
11: 54,308,584 (GRCm39) |
C394Y |
possibly damaging |
Het |
Mmp25 |
T |
C |
17: 23,863,025 (GRCm39) |
T129A |
probably damaging |
Het |
Mmp9 |
A |
G |
2: 164,790,988 (GRCm39) |
|
probably null |
Het |
Mtmr3 |
A |
T |
11: 4,457,632 (GRCm39) |
M171K |
possibly damaging |
Het |
Muc4 |
C |
T |
16: 32,570,466 (GRCm39) |
H509Y |
possibly damaging |
Het |
Nwd1 |
A |
T |
8: 73,394,129 (GRCm39) |
H464L |
probably damaging |
Het |
Or5k1 |
A |
G |
16: 58,618,020 (GRCm39) |
L63P |
probably damaging |
Het |
Paqr5 |
G |
A |
9: 61,876,150 (GRCm39) |
A128V |
probably benign |
Het |
Pcdhb10 |
G |
A |
18: 37,546,687 (GRCm39) |
V588M |
probably damaging |
Het |
Pip |
A |
G |
6: 41,824,596 (GRCm39) |
D28G |
probably damaging |
Het |
Rnf31 |
T |
A |
14: 55,836,566 (GRCm39) |
F800Y |
probably damaging |
Het |
Sag |
T |
G |
1: 87,762,315 (GRCm39) |
S327A |
probably benign |
Het |
Sdf4 |
T |
C |
4: 156,080,985 (GRCm39) |
|
probably benign |
Het |
Slc10a6 |
A |
T |
5: 103,776,739 (GRCm39) |
D120E |
probably benign |
Het |
Spata31d1d |
T |
A |
13: 59,873,793 (GRCm39) |
K1247N |
possibly damaging |
Het |
Stam2 |
A |
G |
2: 52,604,914 (GRCm39) |
V207A |
probably damaging |
Het |
Sytl3 |
T |
C |
17: 7,000,373 (GRCm39) |
L181P |
probably damaging |
Het |
Tbc1d32 |
T |
C |
10: 55,893,799 (GRCm39) |
E1258G |
probably damaging |
Het |
Tmem63b |
T |
G |
17: 45,972,826 (GRCm39) |
H656P |
probably damaging |
Het |
Tmem69 |
T |
A |
4: 116,410,926 (GRCm39) |
M15L |
probably benign |
Het |
Tmprss7 |
T |
A |
16: 45,489,891 (GRCm39) |
I444F |
possibly damaging |
Het |
Ttbk2 |
C |
A |
2: 120,614,210 (GRCm39) |
R168L |
probably damaging |
Het |
Ttc28 |
A |
G |
5: 111,433,251 (GRCm39) |
Y2095C |
possibly damaging |
Het |
Ube3c |
A |
G |
5: 29,837,761 (GRCm39) |
Y643C |
probably damaging |
Het |
Ywhaq |
G |
A |
12: 21,446,410 (GRCm39) |
A152V |
probably damaging |
Het |
Zeb2 |
T |
A |
2: 44,886,619 (GRCm39) |
I813F |
probably benign |
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 |
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 |
IGL03267:Lca5l
|
APN |
16 |
95,960,983 (GRCm39) |
missense |
probably benign |
0.03 |
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 |
2015-12-18 |