Incidental Mutation 'IGL01093:Lcn5'
ID |
50485 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Lcn5
|
Ensembl Gene |
ENSMUSG00000026937 |
Gene Name |
lipocalin 5 |
Synonyms |
MEP10, mE-RABP, Erabp |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.061)
|
Stock # |
IGL01093
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
25547964-25551989 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 25550729 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 139
(V139A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000097888
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028306]
[ENSMUST00000038482]
[ENSMUST00000100312]
[ENSMUST00000100313]
|
AlphaFold |
A2AJB7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028306
AA Change: V139A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000028306 Gene: ENSMUSG00000026937 AA Change: V139A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
Pfam:Lipocalin
|
41 |
180 |
1.6e-23 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000038482
|
SMART Domains |
Protein: ENSMUSP00000043902 Gene: ENSMUSG00000036449
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
Pfam:Lipocalin
|
33 |
159 |
2.9e-18 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000100312
AA Change: V139A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000097887 Gene: ENSMUSG00000026937 AA Change: V139A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
Pfam:Lipocalin
|
41 |
180 |
1.6e-23 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000100313
AA Change: V139A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000097888 Gene: ENSMUSG00000026937 AA Change: V139A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
Pfam:Lipocalin
|
41 |
180 |
2.5e-23 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143401
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: This gene encodes a small secreted protein that is expressed in the epididymis and binds retinoic acid. The precursor protein is processed into both a longer major form and a shorter minor form. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2013]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akr1c21 |
C |
T |
13: 4,631,139 (GRCm39) |
|
probably benign |
Het |
Alpk2 |
A |
G |
18: 65,482,400 (GRCm39) |
L69P |
probably damaging |
Het |
C3 |
G |
T |
17: 57,530,949 (GRCm39) |
P384Q |
probably damaging |
Het |
Cobll1 |
T |
C |
2: 64,928,581 (GRCm39) |
E953G |
probably damaging |
Het |
Dnaaf9 |
T |
C |
2: 130,619,156 (GRCm39) |
T281A |
probably benign |
Het |
Dnmt1 |
C |
T |
9: 20,821,081 (GRCm39) |
E1269K |
possibly damaging |
Het |
Dync2h1 |
T |
C |
9: 7,145,611 (GRCm39) |
R1012G |
probably benign |
Het |
Fbxw24 |
T |
A |
9: 109,434,041 (GRCm39) |
Q423L |
probably benign |
Het |
Flg2 |
T |
C |
3: 93,109,678 (GRCm39) |
S569P |
unknown |
Het |
Ier5 |
A |
G |
1: 154,975,139 (GRCm39) |
I13T |
probably damaging |
Het |
Kat6a |
A |
G |
8: 23,429,337 (GRCm39) |
D1564G |
possibly damaging |
Het |
Naca |
A |
G |
10: 127,883,982 (GRCm39) |
S2138G |
probably damaging |
Het |
Or1j15 |
T |
G |
2: 36,458,838 (GRCm39) |
V76G |
probably damaging |
Het |
Or5p59 |
T |
A |
7: 107,702,851 (GRCm39) |
S112T |
probably benign |
Het |
Or5w14 |
T |
G |
2: 87,541,477 (GRCm39) |
M258L |
possibly damaging |
Het |
Or6c66 |
A |
C |
10: 129,461,432 (GRCm39) |
F166C |
probably damaging |
Het |
Or6c74 |
A |
G |
10: 129,869,761 (GRCm39) |
T89A |
probably benign |
Het |
Pcdhgb8 |
A |
G |
18: 37,958,089 (GRCm39) |
T813A |
probably damaging |
Het |
Pkd1l1 |
T |
C |
11: 8,851,345 (GRCm39) |
T696A |
probably benign |
Het |
Rif1 |
T |
G |
2: 51,985,960 (GRCm39) |
H648Q |
probably damaging |
Het |
Secisbp2l |
C |
A |
2: 125,582,245 (GRCm39) |
K1070N |
probably benign |
Het |
Spock3 |
G |
A |
8: 63,801,993 (GRCm39) |
R327Q |
probably benign |
Het |
Trpm2 |
A |
G |
10: 77,768,114 (GRCm39) |
I795T |
probably benign |
Het |
Ube4b |
T |
C |
4: 149,414,726 (GRCm39) |
I1128V |
probably benign |
Het |
Vmn1r225 |
A |
T |
17: 20,723,081 (GRCm39) |
D174V |
probably damaging |
Het |
Xpnpep3 |
T |
A |
15: 81,320,969 (GRCm39) |
Y283N |
possibly damaging |
Het |
Zfp9 |
C |
T |
6: 118,442,800 (GRCm39) |
A99T |
probably benign |
Het |
Zfp944 |
A |
G |
17: 22,562,615 (GRCm39) |
|
probably benign |
Het |
Zscan4c |
G |
A |
7: 10,743,544 (GRCm39) |
C381Y |
probably benign |
Het |
|
Other mutations in Lcn5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02093:Lcn5
|
APN |
2 |
25,548,462 (GRCm39) |
missense |
probably damaging |
0.96 |
R0009:Lcn5
|
UTSW |
2 |
25,551,417 (GRCm39) |
intron |
probably benign |
|
R0045:Lcn5
|
UTSW |
2 |
25,550,710 (GRCm39) |
missense |
probably damaging |
0.98 |
R0045:Lcn5
|
UTSW |
2 |
25,550,710 (GRCm39) |
missense |
probably damaging |
0.98 |
R0356:Lcn5
|
UTSW |
2 |
25,550,705 (GRCm39) |
missense |
probably damaging |
0.97 |
R0733:Lcn5
|
UTSW |
2 |
25,551,113 (GRCm39) |
missense |
probably damaging |
1.00 |
R2068:Lcn5
|
UTSW |
2 |
25,548,053 (GRCm39) |
missense |
probably damaging |
0.98 |
R4628:Lcn5
|
UTSW |
2 |
25,548,075 (GRCm39) |
missense |
possibly damaging |
0.79 |
R4963:Lcn5
|
UTSW |
2 |
25,551,426 (GRCm39) |
missense |
probably benign |
|
R5437:Lcn5
|
UTSW |
2 |
25,548,023 (GRCm39) |
missense |
probably benign |
0.29 |
R7624:Lcn5
|
UTSW |
2 |
25,551,426 (GRCm39) |
missense |
probably benign |
|
R9696:Lcn5
|
UTSW |
2 |
25,550,142 (GRCm39) |
missense |
probably benign |
|
|
Posted On |
2013-06-21 |