Incidental Mutation 'R8527:Lca5l'
| ID |
658869 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lca5l
|
| Ensembl Gene |
ENSMUSG00000045275 |
| Gene Name |
Leber congenital amaurosis 5-like |
| Synonyms |
4921526F01Rik |
| MMRRC Submission |
067952-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.085)
|
| Stock # |
R8527 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
95959605-95993450 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 95960438 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Cysteine
at position 675
(G675C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109435
(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 damaging
Transcript: ENSMUST00000054855
AA Change: G680C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000061337
Gene: ENSMUSG00000045275
AA Change: G680C
| 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 damaging
Transcript: ENSMUST00000113804
AA Change: G675C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109435
Gene: ENSMUSG00000045275
AA Change: G675C
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
C |
T |
1: 71,349,047 (GRCm39) |
|
probably null |
Het |
| Acsl5 |
A |
G |
19: 55,280,259 (GRCm39) |
T511A |
probably damaging |
Het |
| Ankrd35 |
A |
G |
3: 96,589,353 (GRCm39) |
I191V |
probably damaging |
Het |
| Apmap |
T |
C |
2: 150,428,385 (GRCm39) |
Q254R |
probably benign |
Het |
| Arhgef12 |
A |
T |
9: 42,908,944 (GRCm39) |
L661Q |
possibly damaging |
Het |
| Atf7ip2 |
T |
A |
16: 10,055,129 (GRCm39) |
|
probably benign |
Het |
| Braf |
T |
C |
6: 39,604,693 (GRCm39) |
H592R |
probably benign |
Het |
| Ceacam2 |
T |
A |
7: 25,238,155 (GRCm39) |
I90L |
probably benign |
Het |
| Dgcr6 |
T |
C |
16: 17,887,390 (GRCm39) |
|
probably null |
Het |
| Efcab12 |
T |
C |
6: 115,791,535 (GRCm39) |
I546V |
probably benign |
Het |
| Eya1 |
G |
T |
1: 14,322,672 (GRCm39) |
A268E |
probably damaging |
Het |
| Fbxl12 |
C |
A |
9: 20,550,160 (GRCm39) |
R165L |
possibly damaging |
Het |
| Gas6 |
T |
C |
8: 13,515,790 (GRCm39) |
I661V |
probably damaging |
Het |
| Gipc3 |
T |
A |
10: 81,174,055 (GRCm39) |
M240L |
possibly damaging |
Het |
| Gm12689 |
A |
G |
4: 99,184,450 (GRCm39) |
D101G |
unknown |
Het |
| Kctd2 |
G |
T |
11: 115,320,310 (GRCm39) |
|
probably benign |
Het |
| Kdm5b |
A |
T |
1: 134,533,512 (GRCm39) |
M534L |
possibly damaging |
Het |
| Kif14 |
T |
A |
1: 136,396,495 (GRCm39) |
V267D |
possibly damaging |
Het |
| Lmod1 |
T |
C |
1: 135,292,221 (GRCm39) |
F359L |
possibly damaging |
Het |
| Lonrf1 |
G |
T |
8: 36,686,986 (GRCm39) |
N783K |
possibly damaging |
Het |
| Megf10 |
T |
C |
18: 57,425,790 (GRCm39) |
S1059P |
probably benign |
Het |
| Mmp24 |
A |
G |
2: 155,641,634 (GRCm39) |
E154G |
probably benign |
Het |
| Mtus2 |
A |
C |
5: 148,240,408 (GRCm39) |
K85T |
probably damaging |
Het |
| Myh11 |
T |
C |
16: 14,048,570 (GRCm39) |
H586R |
probably damaging |
Het |
| Noc2l |
A |
G |
4: 156,326,187 (GRCm39) |
T425A |
probably benign |
Het |
| Olfm3 |
A |
T |
3: 114,916,196 (GRCm39) |
Q376L |
probably benign |
Het |
| Pax5 |
A |
T |
4: 44,570,071 (GRCm39) |
Y272N |
probably damaging |
Het |
| Rasgrp1 |
A |
T |
2: 117,168,785 (GRCm39) |
D64E |
probably benign |
Het |
| Rb1cc1 |
T |
A |
1: 6,315,099 (GRCm39) |
N417K |
probably damaging |
Het |
| Rpl3l |
A |
G |
17: 24,954,754 (GRCm39) |
D369G |
probably damaging |
Het |
| Scn3a |
G |
T |
2: 65,327,863 (GRCm39) |
H876N |
probably damaging |
Het |
| Slc29a3 |
A |
G |
10: 60,566,401 (GRCm39) |
S111P |
probably damaging |
Het |
| Smarca2 |
G |
C |
19: 26,654,187 (GRCm39) |
V791L |
probably damaging |
Het |
| Smc4 |
T |
A |
3: 68,940,224 (GRCm39) |
|
probably null |
Het |
| Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
| Tanc2 |
A |
G |
11: 105,807,834 (GRCm39) |
E1288G |
probably damaging |
Het |
| Tex52 |
G |
A |
6: 128,356,828 (GRCm39) |
V174I |
probably benign |
Het |
| Tjp2 |
C |
A |
19: 24,088,937 (GRCm39) |
G660W |
probably damaging |
Het |
| Tmem121b |
T |
C |
6: 120,469,055 (GRCm39) |
E554G |
probably damaging |
Het |
| Tmem209 |
C |
A |
6: 30,497,237 (GRCm39) |
V318F |
probably damaging |
Het |
| Tnxb |
A |
G |
17: 34,907,634 (GRCm39) |
E1226G |
probably damaging |
Het |
| Traf3ip3 |
T |
A |
1: 192,876,851 (GRCm39) |
I196F |
probably damaging |
Het |
| Trpc4ap |
G |
C |
2: 155,534,132 (GRCm39) |
P32R |
unknown |
Het |
| Vav3 |
A |
G |
3: 109,410,787 (GRCm39) |
K206R |
probably damaging |
Het |
| Zan |
T |
C |
5: 137,433,971 (GRCm39) |
E2254G |
unknown |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTGCTGCATTTAAACAACAGTCTTCC -3'
(R):5'- GAAGCACTACTCCTTCACCGAG -3'
Sequencing Primer
(F):5'- CAGTCTTCCTGTTGGCTTCGG -3'
(R):5'- CTGCAGGCAGGTTTCGG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation