Incidental Mutation 'IGL02422:Lipn'
| ID |
292727 |
| 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 # |
IGL02422
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
34044758-34062318 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 34046063 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 12
(C12Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120184
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025682]
[ENSMUST00000126710]
[ENSMUST00000148821]
|
| AlphaFold |
Q3U4B4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025682
AA Change: C12Y
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000025682
Gene: ENSMUSG00000024770
AA Change: C12Y
| 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 |
noncoding transcript
Transcript: ENSMUST00000117028
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126710
AA Change: C12Y
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000114551
Gene: ENSMUSG00000024770
AA Change: C12Y
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:Abhydro_lipase
|
38 |
100 |
6.4e-23 |
PFAM |
|
Pfam:Abhydrolase_1
|
114 |
181 |
4.4e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148821
AA Change: C12Y
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000120184
Gene: ENSMUSG00000024770
AA Change: C12Y
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700019M22Rik |
T |
C |
12: 96,013,821 (GRCm39) |
|
noncoding transcript |
Het |
| A930011G23Rik |
A |
G |
5: 99,377,236 (GRCm39) |
S404P |
probably damaging |
Het |
| A930011G23Rik |
G |
A |
5: 99,377,241 (GRCm39) |
P402L |
probably damaging |
Het |
| Aak1 |
A |
T |
6: 86,959,598 (GRCm39) |
T846S |
unknown |
Het |
| Adgrl1 |
A |
G |
8: 84,664,115 (GRCm39) |
D1149G |
probably damaging |
Het |
| AI661453 |
C |
T |
17: 47,778,017 (GRCm39) |
|
probably benign |
Het |
| Ap4b1 |
T |
C |
3: 103,720,170 (GRCm39) |
V139A |
possibly damaging |
Het |
| Arhgef16 |
G |
A |
4: 154,371,522 (GRCm39) |
R224* |
probably null |
Het |
| Ash1l |
T |
A |
3: 88,976,386 (GRCm39) |
|
probably null |
Het |
| Atm |
A |
T |
9: 53,412,092 (GRCm39) |
V988D |
probably damaging |
Het |
| C3 |
T |
C |
17: 57,533,823 (GRCm39) |
E47G |
probably damaging |
Het |
| Cdkn2aip |
G |
A |
8: 48,164,534 (GRCm39) |
S393L |
probably damaging |
Het |
| Cep20 |
T |
G |
16: 14,118,070 (GRCm39) |
D150A |
probably benign |
Het |
| Cyp2c68 |
A |
C |
19: 39,722,896 (GRCm39) |
N217K |
probably damaging |
Het |
| Dapp1 |
A |
T |
3: 137,667,260 (GRCm39) |
S101T |
probably benign |
Het |
| Ddx25 |
T |
C |
9: 35,462,660 (GRCm39) |
I242V |
probably null |
Het |
| Dpy19l4 |
T |
C |
4: 11,265,803 (GRCm39) |
N715S |
possibly damaging |
Het |
| Dync1h1 |
A |
G |
12: 110,606,644 (GRCm39) |
E2511G |
possibly damaging |
Het |
| Gm9839 |
T |
A |
1: 32,558,943 (GRCm39) |
|
probably benign |
Het |
| Grn |
A |
G |
11: 102,327,084 (GRCm39) |
|
probably benign |
Het |
| Haus5 |
T |
C |
7: 30,359,571 (GRCm39) |
T196A |
possibly damaging |
Het |
| Ik |
A |
G |
18: 36,886,313 (GRCm39) |
|
probably null |
Het |
| Inpp5d |
T |
G |
1: 87,635,854 (GRCm39) |
F473C |
probably damaging |
Het |
| Kif19a |
C |
A |
11: 114,680,187 (GRCm39) |
S841R |
probably damaging |
Het |
| Ltbp4 |
G |
T |
7: 27,019,097 (GRCm39) |
P1074Q |
probably damaging |
Het |
| Mfap2 |
T |
C |
4: 140,741,535 (GRCm39) |
S65P |
probably benign |
Het |
| Mtbp |
T |
C |
15: 55,426,439 (GRCm39) |
F127S |
possibly damaging |
Het |
| Or8k37 |
A |
G |
2: 86,469,560 (GRCm39) |
F164S |
probably damaging |
Het |
| Pappa2 |
T |
C |
1: 158,764,503 (GRCm39) |
D336G |
probably damaging |
Het |
| Plekhh2 |
A |
G |
17: 84,871,237 (GRCm39) |
|
probably benign |
Het |
| Plekhm3 |
A |
T |
1: 64,961,025 (GRCm39) |
C410* |
probably null |
Het |
| Ppm1f |
T |
A |
16: 16,735,580 (GRCm39) |
H265Q |
probably damaging |
Het |
| Pramel16 |
T |
A |
4: 143,676,453 (GRCm39) |
Y217F |
probably benign |
Het |
| Rasal3 |
T |
C |
17: 32,617,947 (GRCm39) |
T207A |
probably benign |
Het |
| Rnf17 |
T |
A |
14: 56,719,592 (GRCm39) |
N947K |
probably damaging |
Het |
| Rpl3l |
C |
A |
17: 24,952,962 (GRCm39) |
Y307* |
probably null |
Het |
| Sema4d |
A |
G |
13: 51,857,124 (GRCm39) |
S703P |
probably benign |
Het |
| Slc12a7 |
T |
C |
13: 73,954,280 (GRCm39) |
M857T |
probably benign |
Het |
| Slc34a3 |
T |
C |
2: 25,122,275 (GRCm39) |
D110G |
probably benign |
Het |
| Spata32 |
A |
T |
11: 103,099,706 (GRCm39) |
N266K |
probably benign |
Het |
| Spata9 |
A |
G |
13: 76,141,193 (GRCm39) |
I147V |
probably benign |
Het |
| Supt16 |
T |
C |
14: 52,417,000 (GRCm39) |
Y326C |
possibly damaging |
Het |
| Tpx2 |
T |
C |
2: 152,715,064 (GRCm39) |
I95T |
probably benign |
Het |
| Usp17ld |
T |
A |
7: 102,899,967 (GRCm39) |
M322L |
probably damaging |
Het |
| Wdr38 |
A |
T |
2: 38,888,424 (GRCm39) |
N7I |
probably 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 |
|
IGL01320:Lipn
|
APN |
19 |
34,062,040 (GRCm39) |
missense |
probably benign |
0.07 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation