Incidental Mutation 'R6797:Lipn'
| ID |
533079 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lipn
|
| Ensembl Gene |
ENSMUSG00000024770 |
| Gene Name |
lipase, family member N |
| Synonyms |
2210418G03Rik, Lipl4 |
| MMRRC Submission |
044910-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6797 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
34044758-34062318 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 34058160 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 294
(M294L)
|
| 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: M294L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000025682
Gene: ENSMUSG00000024770
AA Change: M294L
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.8%
- 20x: 96.8%
|
| Validation Efficiency |
100% (42/42) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1c18 |
T |
A |
13: 4,195,276 (GRCm39) |
I61L |
probably benign |
Het |
| Angptl2 |
T |
C |
2: 33,118,277 (GRCm39) |
V17A |
probably benign |
Het |
| Casp14 |
T |
C |
10: 78,550,975 (GRCm39) |
D70G |
possibly damaging |
Het |
| Cckbr |
A |
G |
7: 105,083,773 (GRCm39) |
M234V |
possibly damaging |
Het |
| Cd93 |
T |
C |
2: 148,284,044 (GRCm39) |
N434S |
probably benign |
Het |
| Cenpe |
A |
T |
3: 134,943,899 (GRCm39) |
Q938L |
possibly damaging |
Het |
| Col6a3 |
A |
C |
1: 90,731,810 (GRCm39) |
V1481G |
probably damaging |
Het |
| Dnah5 |
G |
T |
15: 28,233,384 (GRCm39) |
E248* |
probably null |
Het |
| Dnah5 |
G |
A |
15: 28,451,609 (GRCm39) |
R4349Q |
probably damaging |
Het |
| F11 |
A |
G |
8: 45,706,092 (GRCm39) |
Y98H |
probably benign |
Het |
| Fen1 |
A |
G |
19: 10,178,067 (GRCm39) |
F126L |
probably benign |
Het |
| Gpr146 |
G |
A |
5: 139,378,795 (GRCm39) |
G199D |
possibly damaging |
Het |
| Gramd1b |
A |
G |
9: 40,219,702 (GRCm39) |
I324T |
probably benign |
Het |
| H2bc12 |
A |
T |
13: 22,220,259 (GRCm39) |
N68I |
probably benign |
Het |
| Hivep1 |
C |
A |
13: 42,310,557 (GRCm39) |
S932R |
probably benign |
Het |
| Hk3 |
A |
T |
13: 55,158,644 (GRCm39) |
|
probably null |
Het |
| Hspbp1 |
T |
A |
7: 4,663,781 (GRCm39) |
M355L |
possibly damaging |
Het |
| Jaml |
T |
C |
9: 45,000,058 (GRCm39) |
C77R |
probably damaging |
Het |
| Kmt2e |
A |
G |
5: 23,687,505 (GRCm39) |
N452D |
possibly damaging |
Het |
| Krt5 |
T |
C |
15: 101,621,076 (GRCm39) |
Y57C |
unknown |
Het |
| Magel2 |
A |
G |
7: 62,029,907 (GRCm39) |
E937G |
unknown |
Het |
| Med13l |
G |
A |
5: 118,897,329 (GRCm39) |
|
probably null |
Het |
| Mrgprb8 |
G |
A |
7: 48,038,892 (GRCm39) |
V188I |
probably benign |
Het |
| Ocln |
T |
C |
13: 100,676,223 (GRCm39) |
D90G |
probably damaging |
Het |
| Ofcc1 |
C |
T |
13: 40,241,423 (GRCm39) |
R695Q |
possibly damaging |
Het |
| Or11h23 |
T |
A |
14: 50,948,563 (GRCm39) |
Y259N |
probably damaging |
Het |
| Or52ab7 |
G |
A |
7: 102,978,328 (GRCm39) |
V212I |
probably benign |
Het |
| Otogl |
G |
A |
10: 107,612,978 (GRCm39) |
|
silent |
Het |
| Pak5 |
A |
T |
2: 135,939,454 (GRCm39) |
H560Q |
probably damaging |
Het |
| Pigg |
T |
C |
5: 108,480,694 (GRCm39) |
S493P |
probably damaging |
Het |
| Ppp6r3 |
A |
G |
19: 3,564,719 (GRCm39) |
W185R |
probably damaging |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Sacs |
T |
A |
14: 61,450,522 (GRCm39) |
D4189E |
probably damaging |
Het |
| Serpinb9b |
A |
G |
13: 33,213,467 (GRCm39) |
N8S |
possibly damaging |
Het |
| Slit3 |
A |
G |
11: 35,524,779 (GRCm39) |
T730A |
possibly damaging |
Het |
| Srgap3 |
A |
T |
6: 112,806,503 (GRCm39) |
F53I |
probably damaging |
Het |
| Stc2 |
T |
A |
11: 31,315,351 (GRCm39) |
K163* |
probably null |
Het |
| Tasor2 |
T |
C |
13: 3,626,769 (GRCm39) |
I1060M |
probably benign |
Het |
| Tlk1 |
T |
A |
2: 70,568,770 (GRCm39) |
K411* |
probably null |
Het |
| Ttc27 |
G |
T |
17: 75,036,883 (GRCm39) |
L185F |
probably benign |
Het |
| Vmn2r102 |
C |
T |
17: 19,880,694 (GRCm39) |
Q12* |
probably null |
Het |
| Vmn2r95 |
C |
T |
17: 18,672,551 (GRCm39) |
|
probably benign |
Het |
| Vopp1 |
A |
G |
6: 57,739,492 (GRCm39) |
Y19H |
possibly damaging |
Het |
| Wdr64 |
T |
A |
1: 175,638,176 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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'- TTCACACAGAAGGTTTTGCTG -3'
(R):5'- TGGCATTGCTTTGTGTCACAC -3'
Sequencing Primer
(F):5'- GCTGACTTTTTCAAAGCACCAG -3'
(R):5'- ACCACAAAACTCTTTCTCTTGAAGTC -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation