Incidental Mutation 'IGL01897:Lipm'
| ID |
179438 |
| 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 # |
IGL01897
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
34078343-34100087 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 34098708 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 394
(D394V)
|
| 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: D394V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000025685
Gene: ENSMUSG00000056078
AA Change: D394V
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr3 |
A |
G |
1: 125,346,025 (GRCm39) |
Y21H |
possibly damaging |
Het |
| Adamts15 |
A |
T |
9: 30,813,448 (GRCm39) |
S906T |
probably damaging |
Het |
| Brat1 |
A |
G |
5: 140,703,670 (GRCm39) |
D641G |
probably benign |
Het |
| Ccdc42 |
G |
A |
11: 68,485,101 (GRCm39) |
R205H |
probably benign |
Het |
| Cdadc1 |
T |
C |
14: 59,829,986 (GRCm39) |
|
probably null |
Het |
| Cfi |
T |
C |
3: 129,652,034 (GRCm39) |
V235A |
probably damaging |
Het |
| Ctps1 |
T |
A |
4: 120,424,476 (GRCm39) |
D46V |
probably damaging |
Het |
| Cyb5d1 |
A |
T |
11: 69,284,587 (GRCm39) |
D188E |
probably benign |
Het |
| Cyp19a1 |
G |
T |
9: 54,075,813 (GRCm39) |
T414N |
probably benign |
Het |
| Cyp2c40 |
A |
T |
19: 39,792,217 (GRCm39) |
C242* |
probably null |
Het |
| Eif3b |
A |
T |
5: 140,411,202 (GRCm39) |
T218S |
possibly damaging |
Het |
| Fasn |
A |
T |
11: 120,698,765 (GRCm39) |
L2475Q |
probably damaging |
Het |
| Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Heyl |
A |
T |
4: 123,140,400 (GRCm39) |
I320F |
probably damaging |
Het |
| Itpr3 |
T |
A |
17: 27,330,236 (GRCm39) |
V1618E |
probably damaging |
Het |
| Kif7 |
A |
T |
7: 79,350,800 (GRCm39) |
I1007N |
probably damaging |
Het |
| Lat2 |
A |
G |
5: 134,635,481 (GRCm39) |
|
probably benign |
Het |
| Lmbrd1 |
T |
A |
1: 24,782,977 (GRCm39) |
I307K |
possibly damaging |
Het |
| Mief1 |
T |
C |
15: 80,132,709 (GRCm39) |
|
probably benign |
Het |
| Mta2 |
C |
T |
19: 8,925,130 (GRCm39) |
Q333* |
probably null |
Het |
| Neb |
T |
A |
2: 52,170,587 (GRCm39) |
E1695V |
possibly damaging |
Het |
| Npc1l1 |
A |
T |
11: 6,177,879 (GRCm39) |
N510K |
probably benign |
Het |
| Or5af1 |
T |
C |
11: 58,722,465 (GRCm39) |
F162L |
probably damaging |
Het |
| P2rx3 |
A |
C |
2: 84,853,825 (GRCm39) |
|
probably benign |
Het |
| Pdgfc |
A |
G |
3: 81,111,639 (GRCm39) |
E198G |
possibly damaging |
Het |
| Pkdcc |
T |
A |
17: 83,527,548 (GRCm39) |
I242N |
probably damaging |
Het |
| Pkn3 |
C |
T |
2: 29,972,824 (GRCm39) |
|
probably benign |
Het |
| Rcan2 |
T |
G |
17: 44,147,325 (GRCm39) |
D54E |
probably damaging |
Het |
| Tmeff2 |
T |
A |
1: 51,171,369 (GRCm39) |
Y202N |
probably damaging |
Het |
| Unc13c |
A |
G |
9: 73,453,309 (GRCm39) |
L1827P |
probably damaging |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Wfdc15a |
G |
T |
2: 164,041,896 (GRCm39) |
Q21K |
probably benign |
Het |
| Zfp951 |
C |
A |
5: 104,963,149 (GRCm39) |
S139I |
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 |
|
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 |
|
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 |
2014-05-07 |
Incidental Mutation