Incidental Mutation 'IGL00785:Luc7l2'
ID |
11874 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Luc7l2
|
Ensembl Gene |
ENSMUSG00000029823 |
Gene Name |
LUC7-like 2 (S. cerevisiae) |
Synonyms |
CGI-59, 4930471C18Rik, CGI-74 |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.305)
|
Stock # |
IGL00785
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
38528269-38586405 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 38575721 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 261
(S261P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000055254
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057692]
[ENSMUST00000160511]
[ENSMUST00000161227]
[ENSMUST00000161538]
[ENSMUST00000162386]
[ENSMUST00000163047]
|
AlphaFold |
Q7TNC4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000057692
AA Change: S261P
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000055254 Gene: ENSMUSG00000029823 AA Change: S261P
Domain | Start | End | E-Value | Type |
Pfam:LUC7
|
5 |
257 |
6.5e-84 |
PFAM |
low complexity region
|
269 |
341 |
N/A |
INTRINSIC |
low complexity region
|
347 |
370 |
N/A |
INTRINSIC |
low complexity region
|
377 |
388 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160430
|
SMART Domains |
Protein: ENSMUSP00000124686 Gene: ENSMUSG00000029823
Domain | Start | End | E-Value | Type |
Pfam:LUC7
|
1 |
211 |
9.9e-70 |
PFAM |
low complexity region
|
217 |
281 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000160511
|
Predicted Effect |
unknown
Transcript: ENSMUST00000161227
AA Change: S208P
|
SMART Domains |
Protein: ENSMUSP00000125111 Gene: ENSMUSG00000029823 AA Change: S208P
Domain | Start | End | E-Value | Type |
Pfam:LUC7
|
1 |
288 |
6.9e-65 |
PFAM |
low complexity region
|
294 |
317 |
N/A |
INTRINSIC |
low complexity region
|
324 |
335 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161538
|
SMART Domains |
Protein: ENSMUSP00000124010 Gene: ENSMUSG00000029823
Domain | Start | End | E-Value | Type |
Pfam:LUC7
|
4 |
309 |
3.3e-93 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162386
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000163047
|
SMART Domains |
Protein: ENSMUSP00000125394 Gene: ENSMUSG00000029823
Domain | Start | End | E-Value | Type |
Pfam:LUC7
|
1 |
257 |
3.2e-66 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that contains a C2H2-type zinc finger, coiled-coil region and arginine, serine-rich (RS) domain. A similar protein in mouse interacts with sodium channel modifier 1, and the encoded protein may be involved in the recognition of non-consensus splice donor sites in association with the U1 snRNP spliceosomal subunit. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 24 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Cpt1a |
T |
A |
19: 3,416,389 (GRCm39) |
N313K |
possibly damaging |
Het |
Crb2 |
G |
A |
2: 37,682,076 (GRCm39) |
C819Y |
probably damaging |
Het |
Ctnna3 |
T |
G |
10: 63,402,612 (GRCm39) |
F108V |
probably damaging |
Het |
Faim |
G |
A |
9: 98,874,218 (GRCm39) |
G15R |
probably damaging |
Het |
Fam120a |
A |
G |
13: 49,042,609 (GRCm39) |
S931P |
probably benign |
Het |
Ganc |
A |
C |
2: 120,272,079 (GRCm39) |
Y579S |
probably damaging |
Het |
Hsd17b12 |
A |
G |
2: 93,875,759 (GRCm39) |
S189P |
probably damaging |
Het |
Itprid2 |
A |
G |
2: 79,487,612 (GRCm39) |
E565G |
possibly damaging |
Het |
Kif11 |
C |
A |
19: 37,392,745 (GRCm39) |
L559I |
probably benign |
Het |
Kif11 |
T |
C |
19: 37,392,746 (GRCm39) |
L559P |
probably damaging |
Het |
Myo7a |
T |
C |
7: 97,703,555 (GRCm39) |
K2035E |
probably damaging |
Het |
Nbea |
A |
G |
3: 55,862,814 (GRCm39) |
S1813P |
probably benign |
Het |
Osbpl8 |
A |
G |
10: 111,108,905 (GRCm39) |
T396A |
probably benign |
Het |
Ppfibp2 |
A |
G |
7: 107,337,094 (GRCm39) |
T560A |
probably benign |
Het |
Rictor |
A |
C |
15: 6,806,431 (GRCm39) |
Q683P |
probably damaging |
Het |
Ryr3 |
A |
T |
2: 112,666,448 (GRCm39) |
H1519Q |
possibly damaging |
Het |
Slc34a2 |
A |
T |
5: 53,222,950 (GRCm39) |
I347F |
probably benign |
Het |
Sned1 |
C |
A |
1: 93,201,891 (GRCm39) |
|
probably benign |
Het |
St7l |
A |
G |
3: 104,780,895 (GRCm39) |
|
probably benign |
Het |
Trmu |
T |
A |
15: 85,767,032 (GRCm39) |
D80E |
probably benign |
Het |
Trpv4 |
A |
G |
5: 114,766,686 (GRCm39) |
V620A |
probably damaging |
Het |
Ubr2 |
G |
A |
17: 47,255,791 (GRCm39) |
T1370I |
possibly damaging |
Het |
Xpo5 |
T |
C |
17: 46,515,618 (GRCm39) |
V48A |
probably damaging |
Het |
Zfp638 |
T |
C |
6: 83,906,146 (GRCm39) |
W104R |
probably damaging |
Het |
|
Other mutations in Luc7l2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00089:Luc7l2
|
APN |
6 |
38,585,105 (GRCm39) |
unclassified |
probably benign |
|
IGL00684:Luc7l2
|
APN |
6 |
38,585,111 (GRCm39) |
unclassified |
probably benign |
|
R0004:Luc7l2
|
UTSW |
6 |
38,566,169 (GRCm39) |
missense |
probably damaging |
1.00 |
R0304:Luc7l2
|
UTSW |
6 |
38,569,711 (GRCm39) |
missense |
probably damaging |
0.98 |
R1820:Luc7l2
|
UTSW |
6 |
38,575,754 (GRCm39) |
splice site |
probably null |
|
R2223:Luc7l2
|
UTSW |
6 |
38,542,659 (GRCm39) |
intron |
probably benign |
|
R3815:Luc7l2
|
UTSW |
6 |
38,547,526 (GRCm39) |
missense |
possibly damaging |
0.83 |
R5016:Luc7l2
|
UTSW |
6 |
38,562,036 (GRCm39) |
missense |
possibly damaging |
0.54 |
R7583:Luc7l2
|
UTSW |
6 |
38,528,820 (GRCm39) |
missense |
probably damaging |
0.98 |
R7655:Luc7l2
|
UTSW |
6 |
38,580,399 (GRCm39) |
missense |
unknown |
|
R7656:Luc7l2
|
UTSW |
6 |
38,580,399 (GRCm39) |
missense |
unknown |
|
R7722:Luc7l2
|
UTSW |
6 |
38,580,243 (GRCm39) |
missense |
unknown |
|
R7761:Luc7l2
|
UTSW |
6 |
38,531,999 (GRCm39) |
critical splice donor site |
probably null |
|
R8105:Luc7l2
|
UTSW |
6 |
38,569,588 (GRCm39) |
missense |
probably benign |
0.29 |
R9222:Luc7l2
|
UTSW |
6 |
38,542,633 (GRCm39) |
missense |
probably benign |
|
R9420:Luc7l2
|
UTSW |
6 |
38,547,489 (GRCm39) |
missense |
probably damaging |
1.00 |
R9544:Luc7l2
|
UTSW |
6 |
38,580,315 (GRCm39) |
missense |
unknown |
|
Z1088:Luc7l2
|
UTSW |
6 |
38,580,304 (GRCm39) |
utr 3 prime |
probably benign |
|
Z1176:Luc7l2
|
UTSW |
6 |
38,528,843 (GRCm39) |
nonsense |
probably null |
|
|
Posted On |
2012-12-06 |