Incidental Mutation 'IGL02054:Luc7l'
| ID |
185179 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Luc7l
|
| Ensembl Gene |
ENSMUSG00000024188 |
| Gene Name |
Luc7-like |
| Synonyms |
2410018D03Rik, 1810045C04Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.258)
|
| Stock # |
IGL02054
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
26471870-26504478 bp(+) (GRCm39) |
| Type of Mutation |
utr 3 prime |
| DNA Base Change (assembly) |
T to A
at 26498314 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117660
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025023]
[ENSMUST00000114976]
[ENSMUST00000119928]
[ENSMUST00000140427]
[ENSMUST00000148894]
[ENSMUST00000152107]
[ENSMUST00000154235]
|
| AlphaFold |
Q9CYI4 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000025023
AA Change: S262T
|
| SMART Domains |
Protein: ENSMUSP00000025023
Gene: ENSMUSG00000024188
AA Change: S262T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LUC7
|
4 |
260 |
3.1e-95 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000114976
AA Change: S262T
|
| SMART Domains |
Protein: ENSMUSP00000110627
Gene: ENSMUSG00000024188
AA Change: S262T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LUC7
|
5 |
249 |
2.5e-85 |
PFAM |
|
low complexity region
|
327 |
336 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000119928
AA Change: S262T
|
| SMART Domains |
Protein: ENSMUSP00000113405
Gene: ENSMUSG00000024188
AA Change: S262T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LUC7
|
4 |
260 |
3.1e-95 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133032
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140427
|
| SMART Domains |
Protein: ENSMUSP00000122258
Gene: ENSMUSG00000024188
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LUC7
|
1 |
168 |
1.5e-54 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148894
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000152107
AA Change: S61T
|
| SMART Domains |
Protein: ENSMUSP00000119717
Gene: ENSMUSG00000024188
AA Change: S61T
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
8 |
55 |
N/A |
INTRINSIC |
|
low complexity region
|
126 |
135 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154235
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The LUC7L gene may represent a mammalian heterochromatic gene, encoding a putative RNA-binding protein similar to the yeast Luc7p subunit of the U1 snRNP splicing complex that is normally required for 5-prime splice site selection (Tufarelli et al., 2001 [PubMed 11170747]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a mutant allele producing a truncated product lacked any obvious phenotypic abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
G |
T |
11: 110,182,949 (GRCm39) |
P1036Q |
probably damaging |
Het |
| Bag4 |
T |
C |
8: 26,261,253 (GRCm39) |
S163G |
probably benign |
Het |
| Camkk1 |
G |
A |
11: 72,916,708 (GRCm39) |
R102Q |
probably damaging |
Het |
| Caprin1 |
A |
C |
2: 103,602,143 (GRCm39) |
|
probably null |
Het |
| Cct8 |
A |
T |
16: 87,287,364 (GRCm39) |
|
probably benign |
Het |
| Dlgap2 |
A |
G |
8: 14,893,552 (GRCm39) |
M941V |
probably damaging |
Het |
| Dock7 |
C |
T |
4: 98,861,646 (GRCm39) |
R1327Q |
probably damaging |
Het |
| Fhip1b |
A |
G |
7: 105,033,630 (GRCm39) |
S529P |
probably damaging |
Het |
| Gbp9 |
T |
C |
5: 105,230,673 (GRCm39) |
D417G |
probably benign |
Het |
| Gemin2 |
G |
A |
12: 59,068,523 (GRCm39) |
|
probably null |
Het |
| Grk6 |
G |
T |
13: 55,602,210 (GRCm39) |
A346S |
probably benign |
Het |
| Gtf2h1 |
A |
G |
7: 46,464,849 (GRCm39) |
|
probably benign |
Het |
| Irak3 |
T |
A |
10: 120,012,164 (GRCm39) |
Q200L |
probably benign |
Het |
| Irx4 |
A |
G |
13: 73,416,947 (GRCm39) |
T448A |
probably damaging |
Het |
| Iws1 |
T |
C |
18: 32,223,595 (GRCm39) |
|
probably null |
Het |
| Kcnk18 |
G |
A |
19: 59,224,045 (GRCm39) |
|
probably benign |
Het |
| Klk1b11 |
C |
A |
7: 43,648,251 (GRCm39) |
S86Y |
possibly damaging |
Het |
| Lgals7 |
T |
C |
7: 28,565,614 (GRCm39) |
F136S |
probably damaging |
Het |
| Mta2 |
T |
A |
19: 8,928,276 (GRCm39) |
V525E |
probably benign |
Het |
| Mtnr1b |
G |
T |
9: 15,785,536 (GRCm39) |
A74E |
possibly damaging |
Het |
| Myo1c |
A |
G |
11: 75,551,962 (GRCm39) |
T354A |
probably benign |
Het |
| Nat1 |
T |
C |
8: 67,944,074 (GRCm39) |
F153S |
probably damaging |
Het |
| Oasl2 |
T |
C |
5: 115,035,867 (GRCm39) |
C48R |
probably damaging |
Het |
| Or4f60 |
T |
G |
2: 111,902,269 (GRCm39) |
I220L |
probably benign |
Het |
| Pkm |
C |
A |
9: 59,585,484 (GRCm39) |
R489S |
probably damaging |
Het |
| Pth2r |
T |
A |
1: 65,375,940 (GRCm39) |
I66N |
probably damaging |
Het |
| Slc25a18 |
T |
C |
6: 120,769,358 (GRCm39) |
|
probably null |
Het |
| Tnip3 |
T |
C |
6: 65,567,595 (GRCm39) |
S2P |
possibly damaging |
Het |
| Vmn2r61 |
T |
C |
7: 41,926,158 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Luc7l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02141:Luc7l
|
APN |
17 |
26,472,054 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0658:Luc7l
|
UTSW |
17 |
26,485,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1114:Luc7l
|
UTSW |
17 |
26,494,832 (GRCm39) |
splice site |
probably benign |
|
|
R1868:Luc7l
|
UTSW |
17 |
26,499,030 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R2112:Luc7l
|
UTSW |
17 |
26,474,101 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2286:Luc7l
|
UTSW |
17 |
26,499,020 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R2864:Luc7l
|
UTSW |
17 |
26,485,335 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2865:Luc7l
|
UTSW |
17 |
26,485,335 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3040:Luc7l
|
UTSW |
17 |
26,496,593 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4319:Luc7l
|
UTSW |
17 |
26,496,593 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4384:Luc7l
|
UTSW |
17 |
26,498,936 (GRCm39) |
splice site |
probably benign |
|
|
R5160:Luc7l
|
UTSW |
17 |
26,486,271 (GRCm39) |
missense |
probably benign |
0.27 |
|
R5330:Luc7l
|
UTSW |
17 |
26,494,707 (GRCm39) |
nonsense |
probably null |
|
|
R5331:Luc7l
|
UTSW |
17 |
26,494,707 (GRCm39) |
nonsense |
probably null |
|
|
R7220:Luc7l
|
UTSW |
17 |
26,472,219 (GRCm39) |
start gained |
probably benign |
|
|
R7418:Luc7l
|
UTSW |
17 |
26,472,156 (GRCm39) |
unclassified |
probably benign |
|
|
R7559:Luc7l
|
UTSW |
17 |
26,474,089 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8077:Luc7l
|
UTSW |
17 |
26,474,047 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8203:Luc7l
|
UTSW |
17 |
26,485,333 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8895:Luc7l
|
UTSW |
17 |
26,472,978 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
X0026:Luc7l
|
UTSW |
17 |
26,496,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Luc7l
|
UTSW |
17 |
26,486,229 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Z1177:Luc7l
|
UTSW |
17 |
26,500,635 (GRCm39) |
missense |
unknown |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation