Incidental Mutation 'R1114:Luc7l'
| ID |
97085 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Luc7l
|
| Ensembl Gene |
ENSMUSG00000024188 |
| Gene Name |
Luc7-like |
| Synonyms |
2410018D03Rik, 1810045C04Rik |
| MMRRC Submission |
039187-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.224)
|
| Stock # |
R1114 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
26471870-26504478 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 26494832 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 |
probably benign
Transcript: ENSMUST00000025023
|
| SMART Domains |
Protein: ENSMUSP00000025023
Gene: ENSMUSG00000024188
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LUC7
|
4 |
260 |
3.1e-95 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114976
|
| SMART Domains |
Protein: ENSMUSP00000110627
Gene: ENSMUSG00000024188
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LUC7
|
5 |
249 |
2.5e-85 |
PFAM |
|
low complexity region
|
327 |
336 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119928
|
| SMART Domains |
Protein: ENSMUSP00000113405
Gene: ENSMUSG00000024188
| 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 |
probably benign
Transcript: ENSMUST00000152107
|
| SMART Domains |
Protein: ENSMUSP00000119717
Gene: ENSMUSG00000024188
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 98.7%
- 3x: 97.5%
- 10x: 93.5%
- 20x: 84.2%
|
| Validation Efficiency |
100% (47/47) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700128F08Rik |
T |
A |
9: 8,222,179 (GRCm39) |
|
noncoding transcript |
Het |
| Acss3 |
T |
A |
10: 106,824,740 (GRCm39) |
R422S |
possibly damaging |
Het |
| Asb15 |
G |
A |
6: 24,567,176 (GRCm39) |
R499H |
probably damaging |
Het |
| Aspm |
C |
T |
1: 139,389,662 (GRCm39) |
|
probably benign |
Het |
| Camk2d |
G |
A |
3: 126,633,941 (GRCm39) |
V488M |
probably damaging |
Het |
| Cd247 |
A |
G |
1: 165,616,407 (GRCm39) |
K4E |
probably benign |
Het |
| Cdh20 |
A |
G |
1: 104,906,739 (GRCm39) |
D522G |
probably damaging |
Het |
| Cse1l |
T |
A |
2: 166,783,123 (GRCm39) |
|
probably benign |
Het |
| Dctn2 |
T |
A |
10: 127,114,011 (GRCm39) |
|
probably null |
Het |
| Dpy19l1 |
A |
T |
9: 24,336,072 (GRCm39) |
F545I |
probably benign |
Het |
| Dpy19l4 |
A |
G |
4: 11,287,643 (GRCm39) |
|
probably benign |
Het |
| Dsg4 |
A |
T |
18: 20,599,540 (GRCm39) |
T719S |
possibly damaging |
Het |
| Dusp12 |
A |
C |
1: 170,708,586 (GRCm39) |
V48G |
probably damaging |
Het |
| Efcab7 |
A |
T |
4: 99,735,452 (GRCm39) |
R159* |
probably null |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fbxw20 |
A |
G |
9: 109,052,550 (GRCm39) |
V261A |
probably damaging |
Het |
| Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
| Inpp5j |
C |
A |
11: 3,444,814 (GRCm39) |
R953L |
possibly damaging |
Het |
| Itprid2 |
A |
G |
2: 79,487,873 (GRCm39) |
E652G |
probably damaging |
Het |
| Lrrk2 |
C |
T |
15: 91,584,671 (GRCm39) |
R363* |
probably null |
Het |
| Ltbp1 |
A |
G |
17: 75,667,770 (GRCm39) |
D1089G |
probably benign |
Het |
| Mdn1 |
G |
A |
4: 32,746,568 (GRCm39) |
|
probably null |
Het |
| Mgat4a |
A |
T |
1: 37,503,487 (GRCm39) |
|
probably benign |
Het |
| Mmp12 |
A |
G |
9: 7,358,289 (GRCm39) |
T392A |
possibly damaging |
Het |
| Nlrp12 |
A |
G |
7: 3,277,166 (GRCm39) |
V921A |
probably benign |
Het |
| Or5m5 |
A |
T |
2: 85,814,651 (GRCm39) |
I156F |
probably benign |
Het |
| Or5t7 |
G |
A |
2: 86,507,629 (GRCm39) |
T16I |
possibly damaging |
Het |
| Or6c8b |
T |
A |
10: 128,882,711 (GRCm39) |
I74F |
possibly damaging |
Het |
| Pkd2l1 |
T |
C |
19: 44,179,983 (GRCm39) |
|
probably benign |
Het |
| Pramel24 |
A |
G |
4: 143,453,425 (GRCm39) |
I178V |
probably benign |
Het |
| Rictor |
C |
A |
15: 6,823,486 (GRCm39) |
C1554* |
probably null |
Het |
| Ryr2 |
A |
G |
13: 11,960,867 (GRCm39) |
C24R |
probably damaging |
Het |
| Scamp2 |
T |
A |
9: 57,488,863 (GRCm39) |
I188N |
probably damaging |
Het |
| Smg1 |
A |
T |
7: 117,759,013 (GRCm39) |
|
probably benign |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| Synrg |
C |
A |
11: 83,914,262 (GRCm39) |
|
probably benign |
Het |
| Syt9 |
G |
T |
7: 107,024,562 (GRCm39) |
V152F |
possibly damaging |
Het |
| Trmt2a |
A |
G |
16: 18,068,304 (GRCm39) |
|
probably benign |
Het |
| Vmn2r100 |
T |
C |
17: 19,752,261 (GRCm39) |
I831T |
probably damaging |
Het |
| Vps13a |
G |
T |
19: 16,727,515 (GRCm39) |
H196N |
probably benign |
Het |
| Xdh |
T |
C |
17: 74,248,144 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Luc7l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02054:Luc7l
|
APN |
17 |
26,498,314 (GRCm39) |
utr 3 prime |
probably benign |
|
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCCTGCATCCAGTTTTCAACAGC -3'
(R):5'- AAATGCTACAGGTCCTTCGAGCCC -3'
Sequencing Primer
(F):5'- GCAAAAACTCCGTGTTTGCG -3'
(R):5'- tccaccccacctcatcc -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation