Incidental Mutation 'IGL01789:Lipm'
ID |
155153 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Lipm
|
Ensembl Gene |
ENSMUSG00000056078 |
Gene Name |
lipase, family member M |
Synonyms |
4632427C23Rik, Lipl3 |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.594)
|
Stock # |
IGL01789
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
34078343-34100087 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 34096147 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 321
(D321G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025685
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025685]
[ENSMUST00000025686]
|
AlphaFold |
Q8K2A6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000025685
AA Change: D321G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000025685 Gene: ENSMUSG00000056078 AA Change: D321G
Domain | Start | End | E-Value | Type |
Pfam:Abhydro_lipase
|
49 |
111 |
3.3e-26 |
PFAM |
Pfam:Abhydrolase_1
|
92 |
393 |
2.6e-29 |
PFAM |
Pfam:Abhydrolase_5
|
93 |
387 |
2.5e-10 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000025686
|
SMART Domains |
Protein: ENSMUSP00000025686 Gene: ENSMUSG00000024774
Domain | Start | End | E-Value | Type |
ANK
|
39 |
68 |
1.1e-6 |
SMART |
ANK
|
72 |
130 |
2.05e2 |
SMART |
ANK
|
134 |
163 |
1.68e-2 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159887
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160474
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 18 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Afm |
C |
T |
5: 90,673,443 (GRCm39) |
P232S |
probably benign |
Het |
Atp11b |
A |
T |
3: 35,843,741 (GRCm39) |
Q81L |
possibly damaging |
Het |
Cgn |
G |
A |
3: 94,683,528 (GRCm39) |
P413S |
possibly damaging |
Het |
Eps8 |
C |
T |
6: 137,516,364 (GRCm39) |
M5I |
probably benign |
Het |
Fam83h |
A |
T |
15: 75,877,969 (GRCm39) |
M143K |
probably damaging |
Het |
Gzf1 |
G |
A |
2: 148,525,981 (GRCm39) |
A151T |
probably benign |
Het |
Hmcn1 |
C |
T |
1: 150,566,352 (GRCm39) |
C2217Y |
probably damaging |
Het |
Leo1 |
T |
C |
9: 75,361,896 (GRCm39) |
|
probably benign |
Het |
Nos2 |
C |
T |
11: 78,835,483 (GRCm39) |
|
probably benign |
Het |
Phtf2 |
T |
C |
5: 20,999,372 (GRCm39) |
Y257C |
probably benign |
Het |
Rnpep |
T |
C |
1: 135,195,833 (GRCm39) |
K359E |
possibly damaging |
Het |
Speer4c2 |
C |
A |
5: 15,861,884 (GRCm39) |
|
probably benign |
Het |
Tas2r130 |
T |
A |
6: 131,607,118 (GRCm39) |
S226C |
probably damaging |
Het |
Tpbg |
A |
T |
9: 85,726,954 (GRCm39) |
M308L |
probably benign |
Het |
Trip11 |
G |
A |
12: 101,838,090 (GRCm39) |
S1715L |
probably benign |
Het |
Unc13b |
T |
A |
4: 43,239,462 (GRCm39) |
N3508K |
probably damaging |
Het |
Utp20 |
A |
T |
10: 88,634,141 (GRCm39) |
|
probably null |
Het |
Wdhd1 |
A |
T |
14: 47,512,274 (GRCm39) |
M39K |
probably benign |
Het |
|
Other mutations in Lipm |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01624:Lipm
|
APN |
19 |
34,098,545 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01878:Lipm
|
APN |
19 |
34,093,911 (GRCm39) |
missense |
possibly damaging |
0.63 |
IGL01897:Lipm
|
APN |
19 |
34,098,708 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02713:Lipm
|
APN |
19 |
34,078,570 (GRCm39) |
start codon destroyed |
probably null |
0.77 |
R0029:Lipm
|
UTSW |
19 |
34,093,948 (GRCm39) |
splice site |
probably benign |
|
R0352:Lipm
|
UTSW |
19 |
34,090,275 (GRCm39) |
splice site |
probably benign |
|
R0565:Lipm
|
UTSW |
19 |
34,093,906 (GRCm39) |
missense |
probably benign |
0.00 |
R0815:Lipm
|
UTSW |
19 |
34,096,161 (GRCm39) |
missense |
probably benign |
0.13 |
R1658:Lipm
|
UTSW |
19 |
34,093,847 (GRCm39) |
missense |
probably benign |
|
R2990:Lipm
|
UTSW |
19 |
34,093,886 (GRCm39) |
missense |
probably benign |
0.03 |
R4758:Lipm
|
UTSW |
19 |
34,078,570 (GRCm39) |
start codon destroyed |
possibly damaging |
0.59 |
R5446:Lipm
|
UTSW |
19 |
34,095,287 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5468:Lipm
|
UTSW |
19 |
34,086,954 (GRCm39) |
splice site |
probably null |
|
R5905:Lipm
|
UTSW |
19 |
34,089,311 (GRCm39) |
missense |
probably benign |
|
R6066:Lipm
|
UTSW |
19 |
34,090,374 (GRCm39) |
missense |
probably damaging |
1.00 |
R6437:Lipm
|
UTSW |
19 |
34,098,657 (GRCm39) |
missense |
probably damaging |
1.00 |
R6722:Lipm
|
UTSW |
19 |
34,098,665 (GRCm39) |
missense |
probably benign |
0.00 |
R6927:Lipm
|
UTSW |
19 |
34,078,563 (GRCm39) |
start gained |
probably benign |
|
R7007:Lipm
|
UTSW |
19 |
34,089,497 (GRCm39) |
missense |
probably damaging |
1.00 |
R7031:Lipm
|
UTSW |
19 |
34,093,871 (GRCm39) |
missense |
probably benign |
|
R7081:Lipm
|
UTSW |
19 |
34,098,723 (GRCm39) |
missense |
possibly damaging |
0.90 |
R7092:Lipm
|
UTSW |
19 |
34,098,758 (GRCm39) |
missense |
possibly damaging |
0.75 |
R7419:Lipm
|
UTSW |
19 |
34,093,881 (GRCm39) |
missense |
probably benign |
0.09 |
R7426:Lipm
|
UTSW |
19 |
34,093,598 (GRCm39) |
missense |
possibly damaging |
0.56 |
R7772:Lipm
|
UTSW |
19 |
34,095,291 (GRCm39) |
missense |
probably damaging |
0.99 |
R8805:Lipm
|
UTSW |
19 |
34,090,308 (GRCm39) |
missense |
probably damaging |
1.00 |
R9444:Lipm
|
UTSW |
19 |
34,098,690 (GRCm39) |
missense |
probably damaging |
1.00 |
R9519:Lipm
|
UTSW |
19 |
34,090,392 (GRCm39) |
missense |
probably benign |
0.00 |
R9545:Lipm
|
UTSW |
19 |
34,090,392 (GRCm39) |
missense |
probably benign |
0.00 |
R9680:Lipm
|
UTSW |
19 |
34,089,494 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2014-02-04 |