Incidental Mutation 'IGL01624:Lipm'
| ID |
92656 |
| 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: 0.627)
|
| Stock # |
IGL01624
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
34078343-34100087 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 34098545 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 340
(Y340N)
|
| 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: Y340N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000025685
Gene: ENSMUSG00000056078
AA Change: Y340N
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
C |
T |
13: 77,341,205 (GRCm39) |
T18I |
probably damaging |
Het |
| Acod1 |
A |
G |
14: 103,292,669 (GRCm39) |
T398A |
probably benign |
Het |
| Adgrl2 |
A |
G |
3: 148,542,163 (GRCm39) |
V853A |
probably damaging |
Het |
| Ankhd1 |
T |
C |
18: 36,791,066 (GRCm39) |
S2488P |
probably damaging |
Het |
| Ankrd28 |
T |
C |
14: 31,432,814 (GRCm39) |
I578V |
probably benign |
Het |
| Atp2c2 |
A |
C |
8: 120,484,189 (GRCm39) |
R933S |
probably benign |
Het |
| Cyp26a1 |
A |
T |
19: 37,686,781 (GRCm39) |
I78F |
possibly damaging |
Het |
| Gck |
A |
G |
11: 5,853,106 (GRCm39) |
V338A |
possibly damaging |
Het |
| Ints6 |
A |
T |
14: 62,934,320 (GRCm39) |
M729K |
probably benign |
Het |
| Kank2 |
C |
A |
9: 21,691,676 (GRCm39) |
G500W |
probably damaging |
Het |
| Kansl1 |
G |
A |
11: 104,315,378 (GRCm39) |
T220I |
probably benign |
Het |
| Lgi4 |
T |
C |
7: 30,767,113 (GRCm39) |
L380P |
probably damaging |
Het |
| Lhx9 |
G |
T |
1: 138,760,521 (GRCm39) |
Y276* |
probably null |
Het |
| Mlxip |
A |
G |
5: 123,533,392 (GRCm39) |
T134A |
probably benign |
Het |
| Nwd2 |
A |
T |
5: 63,964,153 (GRCm39) |
I1246F |
probably damaging |
Het |
| Or14j3 |
A |
T |
17: 37,900,816 (GRCm39) |
W143R |
probably benign |
Het |
| Or6c69c |
T |
A |
10: 129,910,519 (GRCm39) |
L80H |
probably damaging |
Het |
| Or8h9 |
A |
G |
2: 86,789,574 (GRCm39) |
V76A |
probably benign |
Het |
| Rbm44 |
T |
A |
1: 91,084,380 (GRCm39) |
N601K |
probably damaging |
Het |
| Rgs4 |
T |
A |
1: 169,572,047 (GRCm39) |
Y84F |
probably benign |
Het |
| Scn7a |
T |
C |
2: 66,582,269 (GRCm39) |
T131A |
probably benign |
Het |
| Slc34a1 |
A |
G |
13: 23,998,969 (GRCm39) |
I121V |
probably benign |
Het |
| Slitrk5 |
T |
A |
14: 111,918,526 (GRCm39) |
Y717N |
probably damaging |
Het |
| Sox6 |
A |
G |
7: 115,076,203 (GRCm39) |
S770P |
probably damaging |
Het |
| Spata31 |
T |
C |
13: 65,069,399 (GRCm39) |
W516R |
probably damaging |
Het |
| Sugt1 |
A |
G |
14: 79,834,230 (GRCm39) |
N77S |
probably benign |
Het |
| Sumf1 |
C |
T |
6: 108,130,162 (GRCm39) |
D186N |
probably damaging |
Het |
| Syde2 |
T |
C |
3: 145,712,790 (GRCm39) |
L709S |
probably damaging |
Het |
| Tcp1 |
T |
A |
17: 13,138,812 (GRCm39) |
I163K |
probably benign |
Het |
| Upf2 |
A |
T |
2: 6,038,990 (GRCm39) |
E287D |
probably benign |
Het |
| Usp17lb |
A |
G |
7: 104,491,720 (GRCm39) |
|
probably benign |
Het |
| Vmn2r10 |
G |
A |
5: 109,154,112 (GRCm39) |
S64F |
possibly damaging |
Het |
|
| Other mutations in Lipm |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01789:Lipm
|
APN |
19 |
34,096,147 (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 |
2013-12-09 |
Incidental Mutation