Incidental Mutation 'R3031:Lipe'
| ID |
264723 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lipe
|
| Ensembl Gene |
ENSMUSG00000003123 |
| Gene Name |
lipase, hormone sensitive |
| Synonyms |
HSL, 4933403G17Rik |
| MMRRC Submission |
040547-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3031 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
25078952-25097911 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 25084320 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 588
(E588G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123485
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003207]
[ENSMUST00000054301]
[ENSMUST00000149349]
[ENSMUST00000205698]
[ENSMUST00000205923]
[ENSMUST00000206861]
|
| AlphaFold |
P54310 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003207
AA Change: E318G
PolyPhen 2
Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000003207
Gene: ENSMUSG00000003123
AA Change: E318G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HSL_N
|
44 |
358 |
4.6e-148 |
PFAM |
|
Pfam:DUF2424
|
345 |
504 |
1.1e-8 |
PFAM |
|
Pfam:Abhydrolase_3
|
388 |
548 |
3e-36 |
PFAM |
|
low complexity region
|
611 |
626 |
N/A |
INTRINSIC |
|
Pfam:Abhydrolase_3
|
684 |
771 |
6.4e-13 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000054301
AA Change: E275G
PolyPhen 2
Score 0.481 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000050935
Gene: ENSMUSG00000003123
AA Change: E275G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HSL_N
|
1 |
315 |
1.4e-148 |
PFAM |
|
Pfam:DUF2424
|
302 |
461 |
1.5e-8 |
PFAM |
|
Pfam:Abhydrolase_3
|
345 |
505 |
5.2e-36 |
PFAM |
|
low complexity region
|
568 |
583 |
N/A |
INTRINSIC |
|
Pfam:Abhydrolase_3
|
641 |
728 |
1.1e-12 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000066316
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000149349
AA Change: E588G
PolyPhen 2
Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000123485
Gene: ENSMUSG00000003123
AA Change: E588G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
74 |
90 |
N/A |
INTRINSIC |
|
low complexity region
|
152 |
167 |
N/A |
INTRINSIC |
|
low complexity region
|
250 |
261 |
N/A |
INTRINSIC |
|
Pfam:HSL_N
|
319 |
627 |
1.2e-116 |
PFAM |
|
Pfam:DUF2424
|
616 |
774 |
1.2e-8 |
PFAM |
|
Pfam:Abhydrolase_3
|
658 |
817 |
1.9e-34 |
PFAM |
|
low complexity region
|
881 |
896 |
N/A |
INTRINSIC |
|
Pfam:Abhydrolase_3
|
951 |
1041 |
2.3e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205698
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205787
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205923
AA Change: E11G
PolyPhen 2
Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000206861
AA Change: E275G
PolyPhen 2
Score 0.481 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206588
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206436
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene has a long and a short form, generated by use of alternative translational start codons. The long form is expressed in steroidogenic tissues such as testis, where it converts cholesteryl esters to free cholesterol for steroid hormone production. The short form is expressed in adipose tissue, among others, where it hydrolyzes stored triglycerides to free fatty acids. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutations of this locus result in abnormal lipid homeostasis and, in some lines, defects in spermatogenesis. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(9) : Targeted, knock-out(2) Targeted, other(5) Gene trapped(2) |
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
C |
A |
16: 20,193,863 (GRCm39) |
V753L |
probably damaging |
Het |
| Ap3b1 |
T |
C |
13: 94,702,151 (GRCm39) |
L1068P |
unknown |
Het |
| Cacna1h |
C |
A |
17: 25,652,108 (GRCm39) |
R12L |
probably damaging |
Het |
| Cbln4 |
A |
G |
2: 171,884,100 (GRCm39) |
V40A |
probably damaging |
Het |
| Ccdc170 |
T |
C |
10: 4,468,931 (GRCm39) |
S160P |
probably damaging |
Het |
| Cdc37 |
T |
C |
9: 21,054,487 (GRCm39) |
E46G |
possibly damaging |
Het |
| Cltc |
T |
C |
11: 86,621,158 (GRCm39) |
H287R |
probably damaging |
Het |
| Dsg1a |
A |
T |
18: 20,473,549 (GRCm39) |
D874V |
probably damaging |
Het |
| Gjd4 |
G |
T |
18: 9,280,811 (GRCm39) |
S89* |
probably null |
Het |
| Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
| Hydin |
A |
G |
8: 111,329,848 (GRCm39) |
R4861G |
possibly damaging |
Het |
| Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
| Mael |
T |
C |
1: 166,032,375 (GRCm39) |
D328G |
probably damaging |
Het |
| Mboat7 |
A |
G |
7: 3,681,687 (GRCm39) |
V398A |
probably benign |
Het |
| Slc35e1 |
A |
G |
8: 73,238,735 (GRCm39) |
W258R |
probably benign |
Het |
| Slc9a8 |
A |
G |
2: 167,293,201 (GRCm39) |
D183G |
probably damaging |
Het |
| Sorcs1 |
G |
A |
19: 50,213,613 (GRCm39) |
R705C |
probably damaging |
Het |
| Sult3a1 |
G |
A |
10: 33,753,345 (GRCm39) |
D214N |
possibly damaging |
Het |
| Traf3ip1 |
T |
C |
1: 91,447,822 (GRCm39) |
V433A |
probably damaging |
Het |
| Ubxn7 |
T |
A |
16: 32,194,125 (GRCm39) |
D232E |
probably benign |
Het |
| Upf1 |
C |
T |
8: 70,791,110 (GRCm39) |
R544H |
probably damaging |
Het |
| Vps13c |
T |
C |
9: 67,831,052 (GRCm39) |
S1561P |
probably benign |
Het |
| Wdr48 |
T |
C |
9: 119,753,176 (GRCm39) |
V593A |
probably benign |
Het |
| Zfp58 |
A |
G |
13: 67,640,231 (GRCm39) |
F87L |
probably benign |
Het |
| Zfp663 |
A |
T |
2: 165,195,616 (GRCm39) |
L201* |
probably null |
Het |
|
| Other mutations in Lipe |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00094:Lipe
|
APN |
7 |
25,082,977 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00517:Lipe
|
APN |
7 |
25,087,985 (GRCm39) |
splice site |
probably null |
|
|
IGL00817:Lipe
|
APN |
7 |
25,087,874 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01459:Lipe
|
APN |
7 |
25,082,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01946:Lipe
|
APN |
7 |
25,082,701 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02931:Lipe
|
APN |
7 |
25,082,760 (GRCm39) |
splice site |
probably benign |
|
|
IGL02973:Lipe
|
APN |
7 |
25,083,057 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03091:Lipe
|
APN |
7 |
25,080,180 (GRCm39) |
missense |
probably damaging |
1.00 |
|
fett
|
UTSW |
7 |
25,088,007 (GRCm39) |
missense |
probably benign |
|
|
grassa
|
UTSW |
7 |
25,084,750 (GRCm39) |
missense |
probably damaging |
0.99 |
|
reservoir
|
UTSW |
7 |
25,079,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
3-1:Lipe
|
UTSW |
7 |
25,097,245 (GRCm39) |
missense |
probably damaging |
0.97 |
|
PIT4243001:Lipe
|
UTSW |
7 |
25,094,971 (GRCm39) |
missense |
probably benign |
|
|
R0062:Lipe
|
UTSW |
7 |
25,097,874 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R0062:Lipe
|
UTSW |
7 |
25,097,874 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R0432:Lipe
|
UTSW |
7 |
25,097,913 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0528:Lipe
|
UTSW |
7 |
25,097,901 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0534:Lipe
|
UTSW |
7 |
25,087,611 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R1487:Lipe
|
UTSW |
7 |
25,084,240 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R1502:Lipe
|
UTSW |
7 |
25,097,572 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R1606:Lipe
|
UTSW |
7 |
25,087,569 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1713:Lipe
|
UTSW |
7 |
25,084,750 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2147:Lipe
|
UTSW |
7 |
25,087,946 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3110:Lipe
|
UTSW |
7 |
25,097,848 (GRCm39) |
missense |
probably benign |
|
|
R3112:Lipe
|
UTSW |
7 |
25,097,848 (GRCm39) |
missense |
probably benign |
|
|
R3792:Lipe
|
UTSW |
7 |
25,097,045 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4453:Lipe
|
UTSW |
7 |
25,097,115 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4582:Lipe
|
UTSW |
7 |
25,097,127 (GRCm39) |
missense |
probably benign |
|
|
R4816:Lipe
|
UTSW |
7 |
25,079,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5639:Lipe
|
UTSW |
7 |
25,082,750 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5653:Lipe
|
UTSW |
7 |
25,097,833 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6322:Lipe
|
UTSW |
7 |
25,079,961 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6575:Lipe
|
UTSW |
7 |
25,082,749 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7065:Lipe
|
UTSW |
7 |
25,084,603 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7250:Lipe
|
UTSW |
7 |
25,088,085 (GRCm39) |
start gained |
probably benign |
|
|
R7485:Lipe
|
UTSW |
7 |
25,080,036 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7636:Lipe
|
UTSW |
7 |
25,088,042 (GRCm39) |
missense |
probably benign |
0.42 |
|
R8447:Lipe
|
UTSW |
7 |
25,080,017 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8754:Lipe
|
UTSW |
7 |
25,088,007 (GRCm39) |
missense |
probably benign |
|
|
R9025:Lipe
|
UTSW |
7 |
25,083,923 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9399:Lipe
|
UTSW |
7 |
25,097,227 (GRCm39) |
missense |
probably benign |
0.35 |
|
R9594:Lipe
|
UTSW |
7 |
25,098,128 (GRCm39) |
unclassified |
probably benign |
|
|
R9615:Lipe
|
UTSW |
7 |
25,097,326 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGTACCTTGCTGTCCTGGTG -3'
(R):5'- CATAGGAAGAACTGGGCTGC -3'
Sequencing Primer
(F):5'- TTCCTCCCACAGGGTAAGC -3'
(R):5'- CTGCAAGGAGGAAGAATGTGGTTTG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation