Incidental Mutation 'IGL01320:Lipn'
| ID |
74018 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lipn
|
| Ensembl Gene |
ENSMUSG00000024770 |
| Gene Name |
lipase, family member N |
| Synonyms |
2210418G03Rik, Lipl4 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01320
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
34044758-34062318 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 34062040 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 332
(T332A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025682
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025682]
[ENSMUST00000148821]
|
| AlphaFold |
Q3U4B4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025682
AA Change: T332A
PolyPhen 2
Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000025682
Gene: ENSMUSG00000024770
AA Change: T332A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:Abhydro_lipase
|
38 |
100 |
1.4e-22 |
PFAM |
|
Pfam:Abhydrolase_5
|
81 |
376 |
1.6e-10 |
PFAM |
|
Pfam:Abhydrolase_1
|
81 |
382 |
1.2e-28 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148821
|
| SMART Domains |
Protein: ENSMUSP00000120184
Gene: ENSMUSG00000024770
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:Abhydro_lipase
|
38 |
83 |
2.6e-15 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The gene encodes a lipase that is highly expressed in granular keratinocytes in the epidermis, and plays a role in the differentiation of keratinocytes. Mutations in this gene are associated with lamellar ichthyosis type 4. [provided by RefSeq, Dec 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
T |
C |
6: 128,552,551 (GRCm39) |
E229G |
probably benign |
Het |
| Abca16 |
T |
A |
7: 120,038,422 (GRCm39) |
L368Q |
probably damaging |
Het |
| Ankrd17 |
A |
T |
5: 90,407,988 (GRCm39) |
S1410T |
probably damaging |
Het |
| Asb8 |
A |
G |
15: 98,039,159 (GRCm39) |
|
probably benign |
Het |
| Bmal1 |
T |
C |
7: 112,902,614 (GRCm39) |
I421T |
probably damaging |
Het |
| Chrdl2 |
A |
G |
7: 99,666,248 (GRCm39) |
Y56C |
probably damaging |
Het |
| Crnn |
T |
C |
3: 93,055,519 (GRCm39) |
S102P |
probably damaging |
Het |
| Cyb5a |
T |
C |
18: 84,897,648 (GRCm39) |
I115T |
probably damaging |
Het |
| Daw1 |
T |
C |
1: 83,175,901 (GRCm39) |
I213T |
possibly damaging |
Het |
| Dcp1b |
T |
A |
6: 119,192,036 (GRCm39) |
S317R |
probably benign |
Het |
| Dnah7a |
T |
C |
1: 53,473,205 (GRCm39) |
M3474V |
probably benign |
Het |
| E2f7 |
G |
A |
10: 110,589,954 (GRCm39) |
V36I |
probably benign |
Het |
| Esrp1 |
A |
G |
4: 11,384,374 (GRCm39) |
I103T |
possibly damaging |
Het |
| Hap1 |
G |
A |
11: 100,240,206 (GRCm39) |
T530I |
probably damaging |
Het |
| Hps3 |
T |
C |
3: 20,084,633 (GRCm39) |
N185S |
probably benign |
Het |
| Klra1 |
T |
A |
6: 130,341,224 (GRCm39) |
I250F |
probably benign |
Het |
| Ltbp4 |
A |
G |
7: 27,027,784 (GRCm39) |
|
probably benign |
Het |
| Ncor2 |
A |
G |
5: 125,186,991 (GRCm39) |
V11A |
probably benign |
Het |
| Nipsnap2 |
C |
T |
5: 129,821,828 (GRCm39) |
T108M |
probably damaging |
Het |
| Or10ab4 |
A |
G |
7: 107,654,188 (GRCm39) |
|
probably benign |
Het |
| Or5w22 |
T |
A |
2: 87,362,629 (GRCm39) |
M84K |
probably benign |
Het |
| Ppid |
A |
G |
3: 79,502,584 (GRCm39) |
E46G |
probably damaging |
Het |
| Rrp12 |
A |
G |
19: 41,866,375 (GRCm39) |
L626P |
probably damaging |
Het |
| Slc6a15 |
A |
T |
10: 103,240,606 (GRCm39) |
I410F |
probably benign |
Het |
| Sorcs1 |
A |
G |
19: 50,276,517 (GRCm39) |
|
probably benign |
Het |
| Src |
G |
A |
2: 157,311,423 (GRCm39) |
G461R |
probably damaging |
Het |
| St8sia5 |
A |
T |
18: 77,342,318 (GRCm39) |
T307S |
probably damaging |
Het |
| Stac2 |
T |
C |
11: 97,930,921 (GRCm39) |
|
probably null |
Het |
| Tiam2 |
T |
C |
17: 3,556,020 (GRCm39) |
L77P |
probably damaging |
Het |
| Tmem87b |
G |
T |
2: 128,673,136 (GRCm39) |
G190V |
probably damaging |
Het |
| Trav7-6 |
T |
C |
14: 53,954,565 (GRCm39) |
S32P |
possibly damaging |
Het |
| Unc45b |
A |
G |
11: 82,803,219 (GRCm39) |
|
probably null |
Het |
| Wnt1 |
C |
A |
15: 98,690,404 (GRCm39) |
D244E |
possibly damaging |
Het |
|
| Other mutations in Lipn |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01288:Lipn
|
APN |
19 |
34,056,435 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL01827:Lipn
|
APN |
19 |
34,046,880 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02252:Lipn
|
APN |
19 |
34,049,157 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02422:Lipn
|
APN |
19 |
34,046,063 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0081:Lipn
|
UTSW |
19 |
34,054,376 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0284:Lipn
|
UTSW |
19 |
34,058,106 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0539:Lipn
|
UTSW |
19 |
34,062,003 (GRCm39) |
unclassified |
probably benign |
|
|
R0749:Lipn
|
UTSW |
19 |
34,054,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1170:Lipn
|
UTSW |
19 |
34,049,158 (GRCm39) |
missense |
probably benign |
0.23 |
|
R1528:Lipn
|
UTSW |
19 |
34,046,070 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1621:Lipn
|
UTSW |
19 |
34,046,113 (GRCm39) |
missense |
probably benign |
|
|
R1675:Lipn
|
UTSW |
19 |
34,058,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1869:Lipn
|
UTSW |
19 |
34,058,139 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3236:Lipn
|
UTSW |
19 |
34,046,138 (GRCm39) |
missense |
probably benign |
0.17 |
|
R3237:Lipn
|
UTSW |
19 |
34,046,138 (GRCm39) |
missense |
probably benign |
0.17 |
|
R3832:Lipn
|
UTSW |
19 |
34,046,933 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3876:Lipn
|
UTSW |
19 |
34,046,828 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4084:Lipn
|
UTSW |
19 |
34,056,340 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4595:Lipn
|
UTSW |
19 |
34,058,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5963:Lipn
|
UTSW |
19 |
34,058,700 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6018:Lipn
|
UTSW |
19 |
34,054,335 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6797:Lipn
|
UTSW |
19 |
34,058,160 (GRCm39) |
missense |
probably benign |
|
|
R7090:Lipn
|
UTSW |
19 |
34,049,180 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R7157:Lipn
|
UTSW |
19 |
34,054,390 (GRCm39) |
nonsense |
probably null |
|
|
R7458:Lipn
|
UTSW |
19 |
34,049,242 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8824:Lipn
|
UTSW |
19 |
34,062,116 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8894:Lipn
|
UTSW |
19 |
34,062,248 (GRCm39) |
makesense |
probably null |
|
|
R8933:Lipn
|
UTSW |
19 |
34,046,880 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9054:Lipn
|
UTSW |
19 |
34,054,376 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R9117:Lipn
|
UTSW |
19 |
34,046,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-10-07 |
Incidental Mutation