Incidental Mutation 'IGL02557:Lsr'
| ID |
298326 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lsr
|
| Ensembl Gene |
ENSMUSG00000001247 |
| Gene Name |
lipolysis stimulated lipoprotein receptor |
| Synonyms |
Lisch7, ILDR3 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02557
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
30657195-30672889 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 30657919 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Alanine
at position 347
(E347A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096153
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001279]
[ENSMUST00000058860]
[ENSMUST00000098553]
[ENSMUST00000108116]
[ENSMUST00000108119]
[ENSMUST00000147431]
[ENSMUST00000205961]
[ENSMUST00000172417]
[ENSMUST00000170699]
[ENSMUST00000162228]
|
| AlphaFold |
Q99KG5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001279
AA Change: E415A
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000001279
Gene: ENSMUSG00000001247
AA Change: E415A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
36 |
N/A |
INTRINSIC |
|
IG
|
43 |
186 |
1.23e-3 |
SMART |
|
Pfam:LSR
|
206 |
253 |
9.6e-27 |
PFAM |
|
low complexity region
|
280 |
296 |
N/A |
INTRINSIC |
|
low complexity region
|
445 |
464 |
N/A |
INTRINSIC |
|
low complexity region
|
468 |
487 |
N/A |
INTRINSIC |
|
low complexity region
|
496 |
513 |
N/A |
INTRINSIC |
|
low complexity region
|
544 |
558 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000058860
|
| SMART Domains |
Protein: ENSMUSP00000132256
Gene: ENSMUSG00000058239
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
86 |
110 |
N/A |
INTRINSIC |
|
HLH
|
241 |
296 |
1.36e-16 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000098553
AA Change: E347A
PolyPhen 2
Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000096153
Gene: ENSMUSG00000001247
AA Change: E347A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
36 |
N/A |
INTRINSIC |
|
IG
|
43 |
186 |
1.23e-3 |
SMART |
|
low complexity region
|
212 |
228 |
N/A |
INTRINSIC |
|
low complexity region
|
377 |
396 |
N/A |
INTRINSIC |
|
low complexity region
|
400 |
419 |
N/A |
INTRINSIC |
|
low complexity region
|
428 |
445 |
N/A |
INTRINSIC |
|
low complexity region
|
476 |
490 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108116
AA Change: E396A
PolyPhen 2
Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000103751
Gene: ENSMUSG00000001247
AA Change: E396A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
36 |
N/A |
INTRINSIC |
|
IG
|
43 |
186 |
1.23e-3 |
SMART |
|
Pfam:LSR
|
187 |
235 |
2.3e-25 |
PFAM |
|
low complexity region
|
261 |
277 |
N/A |
INTRINSIC |
|
low complexity region
|
426 |
445 |
N/A |
INTRINSIC |
|
low complexity region
|
449 |
468 |
N/A |
INTRINSIC |
|
low complexity region
|
477 |
494 |
N/A |
INTRINSIC |
|
low complexity region
|
525 |
539 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108119
|
| SMART Domains |
Protein: ENSMUSP00000132021
Gene: ENSMUSG00000058239
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
21 |
N/A |
INTRINSIC |
|
HLH
|
174 |
229 |
1.36e-16 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133179
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147431
AA Change: E200A
PolyPhen 2
Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000123487
Gene: ENSMUSG00000001247
AA Change: E200A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
35 |
N/A |
INTRINSIC |
|
low complexity region
|
65 |
81 |
N/A |
INTRINSIC |
|
low complexity region
|
230 |
249 |
N/A |
INTRINSIC |
|
low complexity region
|
253 |
272 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205961
AA Change: E415A
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167285
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206345
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171338
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169496
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181395
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168731
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166340
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170442
|
| SMART Domains |
Protein: ENSMUSP00000130298
Gene: ENSMUSG00000058239
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
41 |
65 |
N/A |
INTRINSIC |
|
HLH
|
196 |
243 |
1.83e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172417
|
| SMART Domains |
Protein: ENSMUSP00000132833
Gene: ENSMUSG00000058239
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
21 |
N/A |
INTRINSIC |
|
HLH
|
110 |
165 |
1.36e-16 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170699
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162228
|
| SMART Domains |
Protein: ENSMUSP00000125520
Gene: ENSMUSG00000058239
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
86 |
110 |
N/A |
INTRINSIC |
|
HLH
|
214 |
269 |
1.36e-16 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous null mice display embryonic lethality during fetal growth and development, liver hypoplasia, and variable penetrance of pallor, hemorrhaging, superficial skin detachment, and reduced size. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AA986860 |
C |
T |
1: 130,670,444 (GRCm39) |
P222L |
probably benign |
Het |
| Alg12 |
T |
A |
15: 88,700,410 (GRCm39) |
K9* |
probably null |
Het |
| Arhgap20 |
T |
C |
9: 51,732,573 (GRCm39) |
V119A |
probably damaging |
Het |
| Arhgap45 |
T |
C |
10: 79,857,472 (GRCm39) |
Y178H |
probably damaging |
Het |
| Atad2 |
A |
T |
15: 57,985,993 (GRCm39) |
S243T |
probably benign |
Het |
| Atp13a5 |
A |
C |
16: 29,066,934 (GRCm39) |
F1013V |
probably benign |
Het |
| Atp1a2 |
T |
G |
1: 172,106,218 (GRCm39) |
T865P |
possibly damaging |
Het |
| Bcas2 |
T |
C |
3: 103,079,183 (GRCm39) |
|
probably benign |
Het |
| Ccnk |
T |
C |
12: 108,161,985 (GRCm39) |
S297P |
unknown |
Het |
| Cdk5 |
A |
T |
5: 24,624,651 (GRCm39) |
S215T |
probably benign |
Het |
| Ciita |
T |
A |
16: 10,329,879 (GRCm39) |
L798Q |
probably damaging |
Het |
| Clcn2 |
A |
G |
16: 20,527,214 (GRCm39) |
S584P |
probably damaging |
Het |
| Cntn6 |
A |
G |
6: 104,751,496 (GRCm39) |
Y384C |
probably damaging |
Het |
| Cyp2b10 |
T |
A |
7: 25,614,306 (GRCm39) |
V260D |
probably benign |
Het |
| Dsel |
A |
T |
1: 111,790,300 (GRCm39) |
H78Q |
probably damaging |
Het |
| Eml3 |
T |
C |
19: 8,908,745 (GRCm39) |
|
probably benign |
Het |
| Fcgr2b |
C |
A |
1: 170,790,891 (GRCm39) |
|
probably null |
Het |
| Fryl |
A |
T |
5: 73,255,736 (GRCm39) |
L765Q |
probably damaging |
Het |
| Gas2 |
T |
A |
7: 51,537,681 (GRCm39) |
M2K |
probably damaging |
Het |
| Gm13941 |
T |
C |
2: 110,931,501 (GRCm39) |
K44E |
unknown |
Het |
| Gm42878 |
A |
G |
5: 121,665,194 (GRCm39) |
S205P |
possibly damaging |
Het |
| Hcn3 |
A |
T |
3: 89,057,178 (GRCm39) |
S473R |
probably damaging |
Het |
| Hnrnpr |
A |
G |
4: 136,046,817 (GRCm39) |
E65G |
probably damaging |
Het |
| Ints1 |
A |
T |
5: 139,757,392 (GRCm39) |
V375E |
probably damaging |
Het |
| Lama5 |
A |
T |
2: 179,832,725 (GRCm39) |
C1642* |
probably null |
Het |
| Mapre2 |
C |
A |
18: 23,966,014 (GRCm39) |
T33K |
probably damaging |
Het |
| Myo3b |
T |
A |
2: 70,085,663 (GRCm39) |
F772I |
probably benign |
Het |
| Myorg |
C |
T |
4: 41,497,900 (GRCm39) |
V577M |
possibly damaging |
Het |
| Nbas |
T |
C |
12: 13,411,029 (GRCm39) |
V891A |
probably damaging |
Het |
| Neurl4 |
A |
T |
11: 69,797,161 (GRCm39) |
I583F |
probably damaging |
Het |
| Nsd1 |
T |
C |
13: 55,460,261 (GRCm39) |
S2163P |
probably damaging |
Het |
| Nup210l |
T |
C |
3: 90,031,537 (GRCm39) |
Y288H |
probably damaging |
Het |
| Or10ak8 |
T |
C |
4: 118,774,389 (GRCm39) |
T92A |
probably benign |
Het |
| Or4c107 |
A |
G |
2: 88,789,025 (GRCm39) |
I72V |
probably benign |
Het |
| Pak1 |
A |
G |
7: 97,520,794 (GRCm39) |
E151G |
probably benign |
Het |
| Phtf1 |
A |
G |
3: 103,906,081 (GRCm39) |
N588D |
probably damaging |
Het |
| Prom2 |
T |
C |
2: 127,371,391 (GRCm39) |
T756A |
possibly damaging |
Het |
| Ptgfrn |
C |
T |
3: 100,967,952 (GRCm39) |
|
probably null |
Het |
| Seh1l |
T |
C |
18: 67,922,483 (GRCm39) |
S279P |
probably benign |
Het |
| Sema3f |
A |
T |
9: 107,564,411 (GRCm39) |
M35K |
probably damaging |
Het |
| Spesp1 |
T |
C |
9: 62,180,416 (GRCm39) |
E164G |
possibly damaging |
Het |
| Sprr3 |
T |
C |
3: 92,364,473 (GRCm39) |
T124A |
possibly damaging |
Het |
| Trim24 |
A |
C |
6: 37,942,434 (GRCm39) |
|
probably null |
Het |
| Unc79 |
A |
G |
12: 103,148,418 (GRCm39) |
|
probably benign |
Het |
| Vmn2r77 |
T |
A |
7: 86,444,342 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Lsr |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00964:Lsr
|
APN |
7 |
30,671,421 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01893:Lsr
|
APN |
7 |
30,661,657 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02800:Lsr
|
APN |
7 |
30,657,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03030:Lsr
|
APN |
7 |
30,658,706 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL03166:Lsr
|
APN |
7 |
30,661,522 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0349:Lsr
|
UTSW |
7 |
30,658,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0513:Lsr
|
UTSW |
7 |
30,657,763 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1226:Lsr
|
UTSW |
7 |
30,671,308 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1539:Lsr
|
UTSW |
7 |
30,671,517 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R2281:Lsr
|
UTSW |
7 |
30,657,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4208:Lsr
|
UTSW |
7 |
30,672,519 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4422:Lsr
|
UTSW |
7 |
30,665,422 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4544:Lsr
|
UTSW |
7 |
30,671,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4727:Lsr
|
UTSW |
7 |
30,665,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4791:Lsr
|
UTSW |
7 |
30,657,977 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4946:Lsr
|
UTSW |
7 |
30,657,634 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5157:Lsr
|
UTSW |
7 |
30,665,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5652:Lsr
|
UTSW |
7 |
30,658,456 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6052:Lsr
|
UTSW |
7 |
30,658,042 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6314:Lsr
|
UTSW |
7 |
30,658,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6566:Lsr
|
UTSW |
7 |
30,671,508 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6917:Lsr
|
UTSW |
7 |
30,657,721 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7842:Lsr
|
UTSW |
7 |
30,665,437 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7941:Lsr
|
UTSW |
7 |
30,672,520 (GRCm39) |
missense |
probably benign |
|
|
R9255:Lsr
|
UTSW |
7 |
30,657,670 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9641:Lsr
|
UTSW |
7 |
30,658,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9742:Lsr
|
UTSW |
7 |
30,657,492 (GRCm39) |
small deletion |
probably benign |
|
|
X0050:Lsr
|
UTSW |
7 |
30,671,602 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation