Incidental Mutation 'R5774:Lca5l'
ID |
445586 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lca5l
|
Ensembl Gene |
ENSMUSG00000045275 |
Gene Name |
Leber congenital amaurosis 5-like |
Synonyms |
4921526F01Rik |
MMRRC Submission |
043373-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.077)
|
Stock # |
R5774 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
95959605-95993450 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 95977261 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Lysine
at position 177
(Q177K)
|
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: Q182K
PolyPhen 2
Score 0.223 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000061337 Gene: ENSMUSG00000045275 AA Change: Q182K
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: Q177K
PolyPhen 2
Score 0.223 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000109435 Gene: ENSMUSG00000045275 AA Change: Q177K
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 |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5730507C01Rik |
C |
A |
12: 18,581,668 (GRCm39) |
L62M |
probably damaging |
Het |
Abcc9 |
G |
A |
6: 142,574,285 (GRCm39) |
T949I |
probably damaging |
Het |
Adam4 |
C |
T |
12: 81,467,460 (GRCm39) |
S387N |
probably damaging |
Het |
Akap11 |
T |
C |
14: 78,748,407 (GRCm39) |
S1327G |
probably damaging |
Het |
Arhgap1 |
A |
G |
2: 91,484,453 (GRCm39) |
T12A |
possibly damaging |
Het |
Arhgap28 |
A |
G |
17: 68,188,487 (GRCm39) |
S228P |
possibly damaging |
Het |
Atp6v1b2 |
A |
T |
8: 69,554,613 (GRCm39) |
D106V |
probably damaging |
Het |
Atp9b |
T |
G |
18: 80,977,147 (GRCm39) |
D3A |
probably damaging |
Het |
Bptf |
A |
G |
11: 107,001,963 (GRCm39) |
F383S |
probably damaging |
Het |
Cdh24 |
T |
C |
14: 54,876,514 (GRCm39) |
T104A |
probably damaging |
Het |
Cep55 |
A |
G |
19: 38,051,103 (GRCm39) |
E171G |
probably damaging |
Het |
Cntrl |
T |
A |
2: 35,052,873 (GRCm39) |
M1126K |
probably benign |
Het |
Cts3 |
A |
T |
13: 61,716,184 (GRCm39) |
I59N |
probably damaging |
Het |
Ddx52 |
A |
G |
11: 83,836,960 (GRCm39) |
I150M |
probably damaging |
Het |
Dennd6a |
T |
C |
14: 26,300,974 (GRCm39) |
V62A |
probably benign |
Het |
Dpep1 |
C |
A |
8: 123,926,721 (GRCm39) |
D211E |
probably damaging |
Het |
Gm1527 |
T |
C |
3: 28,972,239 (GRCm39) |
V452A |
probably benign |
Het |
Hmcn2 |
T |
C |
2: 31,299,147 (GRCm39) |
V2831A |
possibly damaging |
Het |
Hrob |
T |
A |
11: 102,146,495 (GRCm39) |
I257N |
possibly damaging |
Het |
Hydin |
G |
T |
8: 111,298,547 (GRCm39) |
E3722* |
probably null |
Het |
Il17a |
A |
G |
1: 20,803,997 (GRCm39) |
S131G |
probably benign |
Het |
Ing3 |
C |
T |
6: 21,967,688 (GRCm39) |
P119S |
probably benign |
Het |
Larp4b |
T |
A |
13: 9,220,679 (GRCm39) |
|
probably null |
Het |
Lrrc61 |
C |
T |
6: 48,545,133 (GRCm39) |
|
probably benign |
Het |
Man2a2 |
T |
C |
7: 80,018,106 (GRCm39) |
Y188C |
probably damaging |
Het |
Mdk |
T |
C |
2: 91,761,569 (GRCm39) |
E36G |
probably damaging |
Het |
Mmp12 |
T |
C |
9: 7,354,823 (GRCm39) |
I272T |
possibly damaging |
Het |
Myh4 |
A |
T |
11: 67,144,034 (GRCm39) |
K1135* |
probably null |
Het |
Nup188 |
T |
A |
2: 30,191,060 (GRCm39) |
Y96N |
probably damaging |
Het |
Or8k33 |
A |
T |
2: 86,384,351 (GRCm39) |
V39E |
possibly damaging |
Het |
Pank4 |
G |
A |
4: 155,065,119 (GRCm39) |
G806D |
probably damaging |
Het |
Parp14 |
T |
C |
16: 35,678,780 (GRCm39) |
Y396C |
probably damaging |
Het |
Pcdhb8 |
T |
A |
18: 37,489,738 (GRCm39) |
I472N |
probably damaging |
Het |
Sema3a |
T |
A |
5: 13,573,131 (GRCm39) |
W220R |
probably damaging |
Het |
Slc35g3 |
A |
G |
11: 69,651,124 (GRCm39) |
V309A |
probably damaging |
Het |
Slc6a6 |
A |
G |
6: 91,721,981 (GRCm39) |
M394V |
probably damaging |
Het |
Specc1l |
G |
A |
10: 75,081,234 (GRCm39) |
R210H |
probably damaging |
Het |
Spocd1 |
T |
A |
4: 129,845,579 (GRCm39) |
S480T |
probably benign |
Het |
Sptbn5 |
T |
A |
2: 119,880,939 (GRCm39) |
|
noncoding transcript |
Het |
Srrm2 |
A |
G |
17: 24,037,249 (GRCm39) |
|
probably benign |
Het |
Stx16 |
G |
A |
2: 173,935,292 (GRCm39) |
G156R |
probably damaging |
Het |
Topbp1 |
A |
G |
9: 103,205,698 (GRCm39) |
K779E |
probably benign |
Het |
Trank1 |
T |
A |
9: 111,220,294 (GRCm39) |
F2344I |
probably damaging |
Het |
Ttll5 |
GCCCTGCGGGGCTGCCACGCTGTCGATCCGGCAGCTAC |
G |
12: 85,980,329 (GRCm39) |
|
probably null |
Het |
Ube4a |
G |
A |
9: 44,864,395 (GRCm39) |
P66L |
probably damaging |
Het |
Utp6 |
A |
T |
11: 79,844,424 (GRCm39) |
F200L |
probably benign |
Het |
Vmn2r117 |
A |
T |
17: 23,696,176 (GRCm39) |
H410Q |
probably damaging |
Het |
Vps33b |
C |
T |
7: 79,935,088 (GRCm39) |
H344Y |
probably benign |
Het |
Xpo5 |
C |
T |
17: 46,552,772 (GRCm39) |
R1145* |
probably null |
Het |
Zbed4 |
T |
A |
15: 88,665,852 (GRCm39) |
F640Y |
possibly damaging |
Het |
Zfp618 |
C |
T |
4: 63,050,799 (GRCm39) |
R527C |
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 |
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 |
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'- CTTGCAAGACGTCTTTGGTCC -3'
(R):5'- AGAAGGACATCCCAGCTGAG -3'
Sequencing Primer
(F):5'- AAGACGTCTTTGGTCCTCAGTAAC -3'
(R):5'- AAAGCAATTCTGGAATGCTTCG -3'
|
Posted On |
2016-11-21 |