Incidental Mutation 'R4291:Lca5l'
| ID |
323085 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lca5l
|
| Ensembl Gene |
ENSMUSG00000045275 |
| Gene Name |
Leber congenital amaurosis 5-like |
| Synonyms |
4921526F01Rik |
| MMRRC Submission |
041081-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
R4291 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
95959605-95993450 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 95979974 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Asparagine
at position 52
(S52N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109435
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054855]
[ENSMUST00000113804]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000054855
AA Change: S57N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000061337
Gene: ENSMUSG00000045275
AA Change: S57N
| 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: S52N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109435
Gene: ENSMUSG00000045275
AA Change: S52N
| 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
|
| Meta Mutation Damage Score |
0.0862 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
100% (62/62) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad9 |
T |
C |
3: 36,120,337 (GRCm39) |
F27S |
probably benign |
Het |
| AK157302 |
T |
A |
13: 21,679,715 (GRCm39) |
D80E |
probably damaging |
Het |
| Amz2 |
T |
C |
11: 109,324,881 (GRCm39) |
|
probably null |
Het |
| Angel1 |
A |
G |
12: 86,767,057 (GRCm39) |
Y440H |
probably damaging |
Het |
| Ankrd34c |
T |
A |
9: 89,611,817 (GRCm39) |
K175* |
probably null |
Het |
| Arid1b |
C |
A |
17: 5,090,938 (GRCm39) |
S546R |
probably damaging |
Het |
| Atf6b |
T |
A |
17: 34,871,648 (GRCm39) |
M428K |
probably benign |
Het |
| Brpf3 |
G |
A |
17: 29,042,949 (GRCm39) |
V997M |
probably benign |
Het |
| Cckar |
A |
G |
5: 53,863,839 (GRCm39) |
S41P |
probably benign |
Het |
| Cd96 |
T |
A |
16: 45,892,112 (GRCm39) |
Q292L |
probably damaging |
Het |
| Cdh18 |
C |
A |
15: 22,714,637 (GRCm39) |
|
probably benign |
Het |
| Cfb |
T |
G |
17: 35,080,114 (GRCm39) |
D122A |
possibly damaging |
Het |
| Copa |
G |
T |
1: 171,919,964 (GRCm39) |
|
probably benign |
Het |
| Ctnna2 |
T |
A |
6: 76,859,728 (GRCm39) |
K854N |
probably damaging |
Het |
| Cwh43 |
G |
A |
5: 73,569,275 (GRCm39) |
V106M |
probably benign |
Het |
| Dact2 |
C |
T |
17: 14,416,833 (GRCm39) |
E456K |
probably benign |
Het |
| Dnah8 |
T |
C |
17: 30,967,533 (GRCm39) |
S2582P |
probably benign |
Het |
| Eef2 |
A |
G |
10: 81,015,414 (GRCm39) |
T312A |
probably benign |
Het |
| Enpep |
T |
A |
3: 129,063,966 (GRCm39) |
R934* |
probably null |
Het |
| Fam240b |
A |
T |
13: 64,629,627 (GRCm39) |
M63K |
possibly damaging |
Het |
| Fhdc1 |
C |
A |
3: 84,352,133 (GRCm39) |
V1031F |
probably benign |
Het |
| Gm6124 |
A |
T |
7: 38,872,195 (GRCm39) |
|
noncoding transcript |
Het |
| Gsn |
G |
A |
2: 35,180,432 (GRCm39) |
V147I |
probably benign |
Het |
| Gucy1a1 |
A |
T |
3: 82,002,066 (GRCm39) |
F671Y |
possibly damaging |
Het |
| Hectd3 |
A |
G |
4: 116,852,889 (GRCm39) |
E97G |
probably damaging |
Het |
| Kcnv1 |
G |
A |
15: 44,977,840 (GRCm39) |
T66M |
probably damaging |
Het |
| Krba1 |
C |
T |
6: 48,392,599 (GRCm39) |
P802S |
possibly damaging |
Het |
| Lmf1 |
T |
C |
17: 25,873,455 (GRCm39) |
L320P |
probably damaging |
Het |
| Map3k4 |
G |
T |
17: 12,474,147 (GRCm39) |
Q845K |
probably benign |
Het |
| Mapkapk3 |
T |
C |
9: 107,136,131 (GRCm39) |
|
probably benign |
Het |
| Mccc1 |
A |
G |
3: 36,044,217 (GRCm39) |
V203A |
probably damaging |
Het |
| Mcm9 |
C |
A |
10: 53,423,668 (GRCm39) |
M677I |
probably benign |
Het |
| Mkrn2 |
A |
G |
6: 115,594,395 (GRCm39) |
T369A |
possibly damaging |
Het |
| Mthfr |
C |
A |
4: 148,139,949 (GRCm39) |
N623K |
probably damaging |
Het |
| Myh2 |
T |
C |
11: 67,071,985 (GRCm39) |
V571A |
probably benign |
Het |
| Nom1 |
G |
A |
5: 29,651,370 (GRCm39) |
|
probably null |
Het |
| Nucb1 |
T |
A |
7: 45,144,704 (GRCm39) |
D283V |
probably damaging |
Het |
| Or12e8 |
G |
A |
2: 87,188,419 (GRCm39) |
M210I |
probably benign |
Het |
| Or14c46 |
A |
T |
7: 85,918,968 (GRCm39) |
F10I |
probably damaging |
Het |
| Or2v2 |
T |
A |
11: 49,004,254 (GRCm39) |
I100L |
probably benign |
Het |
| Pcdhb1 |
A |
C |
18: 37,398,470 (GRCm39) |
L140F |
probably damaging |
Het |
| Ptgs2 |
G |
A |
1: 149,976,002 (GRCm39) |
A10T |
probably benign |
Het |
| Rfx3 |
C |
T |
19: 27,777,632 (GRCm39) |
R497Q |
probably damaging |
Het |
| Rps6kb1 |
A |
T |
11: 86,410,702 (GRCm39) |
|
probably benign |
Het |
| Slc22a21 |
T |
C |
11: 53,860,329 (GRCm39) |
D34G |
probably damaging |
Het |
| Spata13 |
T |
A |
14: 60,947,004 (GRCm39) |
M684K |
probably damaging |
Het |
| Tet3 |
T |
C |
6: 83,350,181 (GRCm39) |
T961A |
probably damaging |
Het |
| Ttc27 |
T |
C |
17: 75,163,474 (GRCm39) |
L694P |
probably damaging |
Het |
| Vmn1r238 |
G |
A |
18: 3,123,214 (GRCm39) |
Q67* |
probably null |
Het |
| Vmn2r101 |
A |
T |
17: 19,832,303 (GRCm39) |
R766S |
probably damaging |
Het |
| Vwf |
A |
T |
6: 125,619,285 (GRCm39) |
Y1321F |
probably damaging |
Het |
| Wfdc1 |
C |
A |
8: 120,406,194 (GRCm39) |
P103Q |
probably damaging |
Het |
| Zfp488 |
C |
A |
14: 33,692,851 (GRCm39) |
C104F |
possibly 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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGCTTCTTACCTCTAGGCTG -3'
(R):5'- GCACAGACTCATGTTAATGCCAAC -3'
Sequencing Primer
(F):5'- CTTACCTCTAGGCTGGGGGAG -3'
(R):5'- CCATAAGCCAAAGCATGCTTTTG -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation