Incidental Mutation 'IGL03166:Lsr'
| ID |
411660 |
| 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 # |
IGL03166
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
30657195-30672889 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 30661522 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146120
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001279]
[ENSMUST00000098553]
[ENSMUST00000108116]
[ENSMUST00000147431]
[ENSMUST00000205961]
|
| AlphaFold |
Q99KG5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000001279
|
| SMART Domains |
Protein: ENSMUSP00000001279
Gene: ENSMUSG00000001247
| 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: ENSMUST00000098553
|
| SMART Domains |
Protein: ENSMUSP00000096153
Gene: ENSMUSG00000001247
| 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 null
Transcript: ENSMUST00000108116
|
| SMART Domains |
Protein: ENSMUSP00000103751
Gene: ENSMUSG00000001247
| 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 |
noncoding transcript
Transcript: ENSMUST00000133179
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000147431
|
| SMART Domains |
Protein: ENSMUSP00000123487
Gene: ENSMUSG00000001247
| 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 |
noncoding transcript
Transcript: ENSMUST00000181395
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000205961
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206345
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvr1b |
A |
G |
15: 101,100,959 (GRCm39) |
R374G |
probably damaging |
Het |
| Ankfn1 |
G |
T |
11: 89,429,264 (GRCm39) |
A40D |
probably benign |
Het |
| Arhgap20 |
T |
A |
9: 51,761,077 (GRCm39) |
I940K |
possibly damaging |
Het |
| Arhgap24 |
T |
C |
5: 103,023,552 (GRCm39) |
|
probably benign |
Het |
| Bdp1 |
T |
C |
13: 100,172,308 (GRCm39) |
T2103A |
probably benign |
Het |
| Cep350 |
A |
G |
1: 155,739,346 (GRCm39) |
S2166P |
possibly damaging |
Het |
| Dlg2 |
T |
C |
7: 91,549,938 (GRCm39) |
|
probably benign |
Het |
| Fhip2b |
A |
T |
14: 70,827,616 (GRCm39) |
C160S |
probably damaging |
Het |
| Fyco1 |
A |
T |
9: 123,657,452 (GRCm39) |
L908H |
probably benign |
Het |
| Gprc5b |
C |
A |
7: 118,583,222 (GRCm39) |
A216S |
probably benign |
Het |
| Lamc1 |
A |
G |
1: 153,208,047 (GRCm39) |
V80A |
probably benign |
Het |
| Lilra6 |
T |
C |
7: 3,915,626 (GRCm39) |
I370V |
possibly damaging |
Het |
| Lim2 |
T |
A |
7: 43,080,047 (GRCm39) |
C11* |
probably null |
Het |
| Lrp1b |
T |
A |
2: 41,001,050 (GRCm39) |
H2058L |
probably damaging |
Het |
| Lrp3 |
G |
T |
7: 34,901,905 (GRCm39) |
L659I |
probably benign |
Het |
| Lrrc8a |
T |
G |
2: 30,145,377 (GRCm39) |
S64A |
probably benign |
Het |
| Lyl1 |
C |
T |
8: 85,429,300 (GRCm39) |
P3L |
possibly damaging |
Het |
| Man2c1 |
T |
A |
9: 57,046,382 (GRCm39) |
V479E |
probably damaging |
Het |
| Mtf2 |
T |
A |
5: 108,254,586 (GRCm39) |
D462E |
probably benign |
Het |
| Mx2 |
T |
C |
16: 97,347,990 (GRCm39) |
I205T |
probably damaging |
Het |
| Nos1 |
T |
A |
5: 118,052,517 (GRCm39) |
|
probably benign |
Het |
| Optc |
C |
T |
1: 133,831,530 (GRCm39) |
|
probably benign |
Het |
| Or51e2 |
T |
C |
7: 102,391,254 (GRCm39) |
N319D |
probably benign |
Het |
| Orm1 |
C |
A |
4: 63,262,831 (GRCm39) |
|
probably benign |
Het |
| Pdzd8 |
T |
C |
19: 59,288,940 (GRCm39) |
E820G |
probably damaging |
Het |
| Pkp1 |
A |
T |
1: 135,805,862 (GRCm39) |
M612K |
probably damaging |
Het |
| Pno1 |
T |
A |
11: 17,154,513 (GRCm39) |
|
probably null |
Het |
| Rbm34 |
T |
C |
8: 127,697,606 (GRCm39) |
Q35R |
probably damaging |
Het |
| Ryr3 |
A |
T |
2: 112,471,457 (GRCm39) |
Y4564* |
probably null |
Het |
| Slc34a3 |
T |
C |
2: 25,122,186 (GRCm39) |
I140V |
probably damaging |
Het |
| Slc43a1 |
T |
C |
2: 84,687,700 (GRCm39) |
I419T |
possibly damaging |
Het |
| Sltm |
C |
A |
9: 70,450,251 (GRCm39) |
A17E |
possibly damaging |
Het |
| Smpdl3b |
T |
C |
4: 132,468,842 (GRCm39) |
D125G |
probably benign |
Het |
| Snorc |
A |
C |
1: 87,402,933 (GRCm39) |
|
probably benign |
Het |
| Supt3 |
G |
T |
17: 45,234,106 (GRCm39) |
A48S |
probably damaging |
Het |
| Tlr3 |
A |
G |
8: 45,855,965 (GRCm39) |
F72L |
probably benign |
Het |
| Trim36 |
T |
C |
18: 46,345,388 (GRCm39) |
E15G |
probably benign |
Het |
| Tubb4b-ps1 |
A |
T |
5: 7,229,965 (GRCm39) |
|
probably benign |
Het |
| Vmn2r68 |
T |
C |
7: 84,871,331 (GRCm39) |
T651A |
probably benign |
Het |
| Wdr76 |
G |
T |
2: 121,364,787 (GRCm39) |
V462F |
possibly damaging |
Het |
| Wnk2 |
C |
A |
13: 49,224,520 (GRCm39) |
G1112* |
probably null |
Het |
| Zfp868 |
A |
C |
8: 70,064,965 (GRCm39) |
C123W |
probably damaging |
Het |
| Zyg11b |
T |
A |
4: 108,123,086 (GRCm39) |
M294L |
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 |
|
IGL02557:Lsr
|
APN |
7 |
30,657,919 (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 |
|
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 |
2016-08-02 |
Incidental Mutation