Incidental Mutation 'R1621:Lipn'
ID |
174684 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lipn
|
Ensembl Gene |
ENSMUSG00000024770 |
Gene Name |
lipase, family member N |
Synonyms |
2210418G03Rik, Lipl4 |
MMRRC Submission |
039658-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1621 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
34044758-34062318 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 34046113 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 29
(K29E)
|
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: K29E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000025682 Gene: ENSMUSG00000024770 AA Change: K29E
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: K29E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000114551 Gene: ENSMUSG00000024770 AA Change: K29E
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: K29E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000120184 Gene: ENSMUSG00000024770 AA Change: K29E
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 |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 94.0%
- 20x: 84.5%
|
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 |
Actl6b |
A |
G |
5: 137,564,041 (GRCm39) |
N253S |
probably benign |
Het |
Adamts3 |
G |
A |
5: 89,869,560 (GRCm39) |
H272Y |
probably damaging |
Het |
Arpc5l |
T |
C |
2: 38,903,913 (GRCm39) |
|
probably null |
Het |
Birc6 |
G |
A |
17: 74,977,245 (GRCm39) |
V4333I |
probably benign |
Het |
Cd38 |
A |
G |
5: 44,058,866 (GRCm39) |
D160G |
probably benign |
Het |
Cdc7 |
A |
G |
5: 107,112,920 (GRCm39) |
S13G |
probably benign |
Het |
Chrm5 |
G |
T |
2: 112,310,182 (GRCm39) |
D311E |
probably benign |
Het |
Ctns |
A |
G |
11: 73,079,298 (GRCm39) |
V140A |
possibly damaging |
Het |
Ets2 |
A |
G |
16: 95,510,913 (GRCm39) |
D57G |
probably damaging |
Het |
Fbxo36 |
T |
A |
1: 84,817,595 (GRCm39) |
M1K |
probably null |
Het |
Fhod3 |
T |
A |
18: 25,155,924 (GRCm39) |
I514K |
probably benign |
Het |
G3bp2 |
A |
T |
5: 92,204,137 (GRCm39) |
F350I |
probably damaging |
Het |
Hs3st3a1 |
G |
T |
11: 64,327,049 (GRCm39) |
V53F |
probably benign |
Het |
Ippk |
T |
C |
13: 49,615,044 (GRCm39) |
S427P |
probably benign |
Het |
Irgm2 |
T |
C |
11: 58,111,364 (GRCm39) |
F364L |
probably benign |
Het |
Map3k11 |
A |
G |
19: 5,740,834 (GRCm39) |
E187G |
probably damaging |
Het |
Nrxn3 |
A |
G |
12: 88,762,480 (GRCm39) |
M176V |
probably benign |
Het |
Or2z9 |
A |
G |
8: 72,853,973 (GRCm39) |
Y123C |
probably damaging |
Het |
Palm3 |
G |
A |
8: 84,756,651 (GRCm39) |
S721N |
possibly damaging |
Het |
Plxnb1 |
A |
G |
9: 108,935,873 (GRCm39) |
I1088V |
probably benign |
Het |
Pmfbp1 |
A |
G |
8: 110,226,170 (GRCm39) |
H69R |
probably benign |
Het |
Pou2af1 |
C |
T |
9: 51,144,160 (GRCm39) |
H54Y |
probably damaging |
Het |
Prl6a1 |
C |
T |
13: 27,501,993 (GRCm39) |
T120I |
probably benign |
Het |
Psen2 |
A |
T |
1: 180,057,030 (GRCm39) |
F331L |
probably benign |
Het |
Pygl |
T |
C |
12: 70,237,866 (GRCm39) |
D724G |
probably damaging |
Het |
Slc25a48 |
T |
A |
13: 56,618,283 (GRCm39) |
*307R |
probably null |
Het |
Slc39a6 |
T |
C |
18: 24,733,946 (GRCm39) |
K248E |
probably benign |
Het |
Slco4a1 |
A |
T |
2: 180,112,925 (GRCm39) |
T386S |
probably benign |
Het |
Snx7 |
T |
C |
3: 117,630,805 (GRCm39) |
I185V |
possibly damaging |
Het |
Tmem94 |
A |
G |
11: 115,676,671 (GRCm39) |
S59G |
probably benign |
Het |
Top3a |
A |
T |
11: 60,641,433 (GRCm39) |
I392N |
probably damaging |
Het |
Utp20 |
A |
G |
10: 88,598,733 (GRCm39) |
I81T |
probably benign |
Het |
Utrn |
A |
G |
10: 12,589,027 (GRCm39) |
L893S |
probably benign |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CACTCACTGCGTTGGATGAATAAGACT -3'
(R):5'- CCTCCTTTCAGGAGACACCAGAAGA -3'
Sequencing Primer
(F):5'- CGTTGGATGAATAAGACTCCAAG -3'
(R):5'- TGaaatatccaaatgggtttaaaagc -3'
|
Posted On |
2014-04-24 |