Incidental Mutation 'RF042:Lca5l'
| ID |
604884 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lca5l
|
| Ensembl Gene |
ENSMUSG00000045275 |
| Gene Name |
Leber congenital amaurosis 5-like |
| Synonyms |
4921526F01Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.085)
|
| Stock # |
RF042 (G1)
|
| Quality Score |
214.458 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
95959605-95993450 bp(-) (GRCm39) |
| Type of Mutation |
frame shift |
| DNA Base Change (assembly) |
GCCCTGGCCCTGGCCCC to GCCC
at 95960497 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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 null
Transcript: ENSMUST00000054855
|
| SMART Domains |
Protein: ENSMUSP00000061337
Gene: ENSMUSG00000045275
| 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 null
Transcript: ENSMUST00000113804
|
| SMART Domains |
Protein: ENSMUSP00000109435
Gene: ENSMUSG00000045275
| 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: 99.8%
- 3x: 99.7%
- 10x: 99.4%
- 20x: 98.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5430401F13Rik |
AAAGGAAAAGGTGGCCAG |
AAAGGAAAAGGTGGCCAGCAAAAACAGGAAGGAAAAGGTGGCCAG |
6: 131,529,849 (GRCm39) |
|
probably benign |
Het |
| A030005L19Rik |
GCTGCTG |
GCTGCTGTGACTGCTG |
1: 82,891,305 (GRCm39) |
|
probably benign |
Het |
| AI837181 |
GGC |
GGCTGC |
19: 5,475,245 (GRCm39) |
|
probably benign |
Het |
| AI837181 |
CG |
CGGTG |
19: 5,475,265 (GRCm39) |
|
probably benign |
Het |
| Anapc2 |
GCGGCGGCGGCGAC |
GC |
2: 25,162,573 (GRCm39) |
|
probably benign |
Het |
| Cgnl1 |
AGCG |
AGCGGCG |
9: 71,631,997 (GRCm39) |
|
probably benign |
Het |
| Cntnap1 |
TTT |
TTTTGTT |
11: 101,071,131 (GRCm39) |
|
probably benign |
Het |
| Cul9 |
TTCTC |
TTC |
17: 46,851,541 (GRCm39) |
|
probably null |
Het |
| Dnmt1 |
GGGGCGGAGCACAGTTCCTACCTCGTT |
GGGGCGGAGCACAGTTCCTACCTCGTTTTGTGGGCGGAGCACAGTTCCTACCTCGTT |
9: 20,821,415 (GRCm39) |
|
probably null |
Het |
| Frem3 |
GATC |
GATCATC |
8: 81,341,867 (GRCm39) |
|
probably benign |
Het |
| Gab3 |
TCT |
TCTACT |
X: 74,043,611 (GRCm39) |
|
probably benign |
Het |
| Gab3 |
TTC |
TTCGTC |
X: 74,043,628 (GRCm39) |
|
probably benign |
Het |
| Gabre |
GGCTCC |
GGCTCCTGCTCC |
X: 71,313,653 (GRCm39) |
|
probably benign |
Het |
| Gm8369 |
TGTG |
TGTGAGTG |
19: 11,489,137 (GRCm39) |
|
probably null |
Het |
| Gm8369 |
GTGTGT |
GTGTGTTTGTGT |
19: 11,489,142 (GRCm39) |
|
probably benign |
Het |
| Gykl1 |
G |
A |
18: 52,827,488 (GRCm39) |
R232Q |
probably benign |
Het |
| Igkv12-89 |
G |
GCAACGCCAT |
6: 68,812,270 (GRCm39) |
|
probably benign |
Het |
| Iqcf4 |
TCCTTTTCCTTTTCCTTTT |
TCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTGCCTTTTCCTTTTCCTTTT |
9: 106,447,804 (GRCm39) |
|
probably benign |
Het |
| Kmt2e |
TTT |
TTTTCTT |
5: 23,683,507 (GRCm39) |
|
probably benign |
Het |
| Krtap28-10 |
CCACAG |
CCACAGACACAG |
1: 83,019,846 (GRCm39) |
|
probably benign |
Het |
| Las1l |
CTTCCT |
CTTCCTTTTCCT |
X: 94,984,226 (GRCm39) |
|
probably benign |
Het |
| Lce1m |
CACTGCTGCTGC |
CACTGCTGCTGCAACTGCTGCTGC |
3: 92,925,446 (GRCm39) |
|
probably benign |
Het |
| Lypd8 |
CA |
CAGTTCCCTCGCCTCTGTTACCCCACAAATCACCAATA |
11: 58,281,069 (GRCm39) |
|
probably benign |
Het |
| Mamld1 |
GCAACA |
GCAACAACA |
X: 70,162,418 (GRCm39) |
|
probably benign |
Het |
| Mamld1 |
A |
AGCC |
X: 70,162,459 (GRCm39) |
|
probably benign |
Het |
| Map1a |
T |
TTGCTCCACCTCCAGCTCCAGCTCCAGCTCC |
2: 121,136,768 (GRCm39) |
|
probably benign |
Het |
| Med12l |
CAG |
CAGAAG |
3: 59,183,402 (GRCm39) |
|
probably benign |
Het |
| Med12l |
GC |
GCATC |
3: 59,183,416 (GRCm39) |
|
probably benign |
Het |
| Med12l |
GCAACA |
GCAACAACA |
3: 59,183,377 (GRCm39) |
|
probably benign |
Het |
| Med12l |
AGC |
AGCGGC |
3: 59,183,388 (GRCm39) |
|
probably benign |
Het |
| Morn4 |
GCAGTGAG |
GCAGTGAGTCAGTCAGTGAG |
19: 42,064,550 (GRCm39) |
|
probably null |
Het |
| Nusap1 |
GAGA |
GAGATACACGTTAGCAGTGAGGAGCAAGCTTAGA |
2: 119,458,088 (GRCm39) |
|
probably null |
Het |
| Opa3 |
GCGGGC |
GCGGGCGGAGCTGCGGGCGGAGCTGCGGGCGGAGCTACGGGC |
7: 18,989,594 (GRCm39) |
|
probably benign |
Het |
| Pdia4 |
CTCTTCCTCCT |
C |
6: 47,785,240 (GRCm39) |
|
probably null |
Het |
| Reep1 |
CGCCA |
CGCCAGCCA |
6: 71,684,950 (GRCm39) |
|
probably null |
Het |
| Sbp |
AAGA |
AAGACGCTGACAACAGAGA |
17: 24,164,358 (GRCm39) |
|
probably benign |
Het |
| Sfswap |
CTCGGCCCA |
CTCGGCCCAGTCGGCCCA |
5: 129,646,807 (GRCm39) |
|
probably benign |
Het |
| Slc39a4 |
TC |
TCATCATGATCACCATGGTCACCATGATCACTGTGGCC |
15: 76,499,071 (GRCm39) |
|
probably benign |
Het |
| Srpk2 |
ATCCT |
AT |
5: 23,730,573 (GRCm39) |
|
probably benign |
Het |
| Tfeb |
GCA |
GCACCA |
17: 48,097,022 (GRCm39) |
|
probably benign |
Het |
| Tgoln1 |
T |
TCACCTCCCGTGGGCTTGCCAGAAG |
6: 72,593,057 (GRCm39) |
|
probably benign |
Het |
| Tob1 |
CACA |
CACAACA |
11: 94,105,277 (GRCm39) |
|
probably benign |
Het |
| Trappc9 |
A |
AGCTGCTGCTGCTGCT |
15: 72,673,132 (GRCm39) |
|
probably benign |
Het |
| Tsen2 |
GGA |
GGATGA |
6: 115,537,028 (GRCm39) |
|
probably benign |
Het |
| Zfhx3 |
GC |
GCCACAGCAAC |
8: 109,682,720 (GRCm39) |
|
probably benign |
Het |
| Zfhx3 |
CAGCAGCA |
CAGCAGCAAAAGCAGCA |
8: 109,682,730 (GRCm39) |
|
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 |
|
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 |
|
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 |
|
|
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'- TGCTGCATTTAAACAACAGTCTTCC -3'
(R):5'- AGCACTACTCCTTCACCGAG -3'
Sequencing Primer
(F):5'- CAGTCTTCCTGTTGGCTTCGG -3'
(R):5'- TCCTTCACCGAGGCCAC -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation