Incidental Mutation 'IGL03030:Lsr'
| ID |
408396 |
| 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 # |
IGL03030
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
30657195-30672889 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 30658706 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 247
(V247A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103751
(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: V266A
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000001279
Gene: ENSMUSG00000001247
AA Change: V266A
| 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 |
probably benign
Transcript: ENSMUST00000098553
AA Change: V198A
PolyPhen 2
Score 0.426 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000096153
Gene: ENSMUSG00000001247
AA Change: V198A
| 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 |
possibly damaging
Transcript: ENSMUST00000108116
AA Change: V247A
PolyPhen 2
Score 0.497 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000103751
Gene: ENSMUSG00000001247
AA Change: V247A
| 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: V51A
PolyPhen 2
Score 0.452 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000123487
Gene: ENSMUSG00000001247
AA Change: V51A
| 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: V266A
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169496
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168731
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181395
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171338
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206345
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167285
|
| 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 |
|
| 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 |
|
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931406B18Rik |
A |
G |
7: 43,145,057 (GRCm39) |
V367A |
possibly damaging |
Het |
| Abcb5 |
A |
T |
12: 118,904,104 (GRCm39) |
S200R |
possibly damaging |
Het |
| Adam29 |
T |
C |
8: 56,326,100 (GRCm39) |
D118G |
probably damaging |
Het |
| Adh4 |
A |
G |
3: 138,134,906 (GRCm39) |
D360G |
probably benign |
Het |
| Ankle2 |
A |
G |
5: 110,399,476 (GRCm39) |
Q611R |
possibly damaging |
Het |
| Ankra2 |
C |
T |
13: 98,409,881 (GRCm39) |
|
probably benign |
Het |
| Ap1g2 |
T |
A |
14: 55,343,504 (GRCm39) |
I28F |
probably damaging |
Het |
| Baz2a |
C |
T |
10: 127,961,015 (GRCm39) |
T1608I |
possibly damaging |
Het |
| Cacnb4 |
T |
C |
2: 52,364,894 (GRCm39) |
D123G |
probably damaging |
Het |
| Cage1 |
G |
A |
13: 38,212,123 (GRCm39) |
T51M |
probably benign |
Het |
| Ccdc63 |
A |
G |
5: 122,260,876 (GRCm39) |
V216A |
probably benign |
Het |
| Ccnd2 |
A |
G |
6: 127,125,841 (GRCm39) |
V65A |
probably damaging |
Het |
| Cfap20dc |
A |
G |
14: 8,511,113 (GRCm38) |
S434P |
probably damaging |
Het |
| Chd3 |
T |
A |
11: 69,245,230 (GRCm39) |
T1163S |
possibly damaging |
Het |
| Cmbl |
A |
G |
15: 31,589,823 (GRCm39) |
|
probably benign |
Het |
| Cobl |
G |
T |
11: 12,204,241 (GRCm39) |
N813K |
possibly damaging |
Het |
| Cog5 |
G |
A |
12: 31,840,921 (GRCm39) |
V249M |
probably damaging |
Het |
| Cps1 |
A |
G |
1: 67,182,080 (GRCm39) |
N98S |
probably damaging |
Het |
| Cracd |
A |
G |
5: 77,005,463 (GRCm39) |
D608G |
unknown |
Het |
| D630045J12Rik |
A |
T |
6: 38,126,648 (GRCm39) |
I1454N |
probably damaging |
Het |
| Elmo2 |
A |
G |
2: 165,136,237 (GRCm39) |
V603A |
possibly damaging |
Het |
| F12 |
A |
G |
13: 55,569,332 (GRCm39) |
|
probably benign |
Het |
| Ficd |
G |
A |
5: 113,874,990 (GRCm39) |
V20I |
probably benign |
Het |
| Gatad2b |
G |
T |
3: 90,249,244 (GRCm39) |
G94V |
probably benign |
Het |
| Gm4845 |
G |
A |
1: 141,184,403 (GRCm39) |
|
noncoding transcript |
Het |
| Hrnr |
G |
A |
3: 93,227,908 (GRCm39) |
V9I |
possibly damaging |
Het |
| Kifc3 |
A |
G |
8: 95,829,040 (GRCm39) |
S584P |
probably damaging |
Het |
| Klk1b24 |
C |
A |
7: 43,840,790 (GRCm39) |
Q73K |
probably benign |
Het |
| Lrp10 |
C |
A |
14: 54,706,619 (GRCm39) |
N518K |
possibly damaging |
Het |
| Mfsd6 |
A |
T |
1: 52,748,862 (GRCm39) |
M1K |
probably null |
Het |
| Mprip |
T |
A |
11: 59,631,941 (GRCm39) |
|
probably null |
Het |
| Myo3b |
G |
T |
2: 70,257,160 (GRCm39) |
|
probably benign |
Het |
| Oprd1 |
A |
G |
4: 131,844,696 (GRCm39) |
F104S |
possibly damaging |
Het |
| Or1l4 |
T |
C |
2: 37,091,883 (GRCm39) |
V210A |
probably benign |
Het |
| Or2g1 |
T |
A |
17: 38,107,162 (GRCm39) |
Y276N |
probably damaging |
Het |
| Or4b1d |
A |
T |
2: 89,969,006 (GRCm39) |
I159N |
possibly damaging |
Het |
| Or5ar1 |
T |
C |
2: 85,671,416 (GRCm39) |
T240A |
probably damaging |
Het |
| Or5b109 |
C |
T |
19: 13,212,418 (GRCm39) |
S268L |
probably damaging |
Het |
| Palb2 |
A |
G |
7: 121,712,479 (GRCm39) |
V591A |
probably damaging |
Het |
| Pcdhb18 |
A |
T |
18: 37,623,786 (GRCm39) |
D372V |
probably damaging |
Het |
| Phc3 |
A |
G |
3: 30,991,002 (GRCm39) |
V405A |
probably damaging |
Het |
| Phf20l1 |
A |
T |
15: 66,513,796 (GRCm39) |
|
probably benign |
Het |
| Pik3ip1 |
A |
G |
11: 3,283,259 (GRCm39) |
K57E |
possibly damaging |
Het |
| Pkhd1l1 |
G |
A |
15: 44,455,372 (GRCm39) |
M4044I |
probably benign |
Het |
| Pkhd1l1 |
T |
C |
15: 44,460,298 (GRCm39) |
V4169A |
probably benign |
Het |
| Pklr |
A |
T |
3: 89,049,963 (GRCm39) |
I313F |
probably damaging |
Het |
| Plxna4 |
T |
A |
6: 32,179,160 (GRCm39) |
T952S |
probably benign |
Het |
| Pop4 |
A |
T |
7: 37,962,730 (GRCm39) |
I178N |
probably damaging |
Het |
| Prorp |
A |
G |
12: 55,351,429 (GRCm39) |
D246G |
probably damaging |
Het |
| Prss40 |
A |
C |
1: 34,597,182 (GRCm39) |
V122G |
probably damaging |
Het |
| Rapgef2 |
C |
A |
3: 78,981,614 (GRCm39) |
|
probably null |
Het |
| Rbm19 |
A |
G |
5: 120,269,311 (GRCm39) |
D538G |
probably damaging |
Het |
| Rnf44 |
G |
A |
13: 54,829,803 (GRCm39) |
R312* |
probably null |
Het |
| Rock1 |
T |
C |
18: 10,070,215 (GRCm39) |
|
probably benign |
Het |
| Rrp1b |
A |
G |
17: 32,275,875 (GRCm39) |
E474G |
probably damaging |
Het |
| Ryr2 |
T |
A |
13: 11,699,365 (GRCm39) |
I2959F |
probably damaging |
Het |
| Sidt2 |
A |
G |
9: 45,850,803 (GRCm39) |
S801P |
probably damaging |
Het |
| Skint6 |
T |
C |
4: 112,870,153 (GRCm39) |
I602V |
probably benign |
Het |
| Slc6a19 |
C |
A |
13: 73,848,590 (GRCm39) |
V55L |
probably damaging |
Het |
| Smarca4 |
C |
T |
9: 21,547,132 (GRCm39) |
T219I |
probably benign |
Het |
| Trappc11 |
C |
A |
8: 47,966,964 (GRCm39) |
V440F |
probably damaging |
Het |
| Vmn1r236 |
G |
A |
17: 21,507,108 (GRCm39) |
W75* |
probably null |
Het |
| Vmn2r52 |
A |
G |
7: 9,892,799 (GRCm39) |
F780S |
probably benign |
Het |
| Vmn2r82 |
G |
T |
10: 79,217,149 (GRCm39) |
A494S |
possibly damaging |
Het |
| Vwa3b |
A |
T |
1: 37,084,049 (GRCm39) |
K74M |
probably damaging |
Het |
| Wrn |
T |
A |
8: 33,738,989 (GRCm39) |
I1037F |
possibly damaging |
Het |
| Zfp13 |
T |
C |
17: 23,799,819 (GRCm39) |
T82A |
probably benign |
Het |
| Zfp82 |
T |
C |
7: 29,756,890 (GRCm39) |
E64G |
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 |
|
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 |
2016-08-02 |
Incidental Mutation