Incidental Mutation 'R0906:Stab1'
ID 83335
Institutional Source Beutler Lab
Gene Symbol Stab1
Ensembl Gene ENSMUSG00000042286
Gene Name stabilin 1
Synonyms MS-1
MMRRC Submission 039064-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0906 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 30860970-30890598 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 30867206 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 1718 (E1718G)
Ref Sequence ENSEMBL: ENSMUSP00000046199 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036618] [ENSMUST00000159249]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000036618
AA Change: E1718G

PolyPhen 2 Score 0.186 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000046199
Gene: ENSMUSG00000042286
AA Change: E1718G

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
EGF 112 149 6.65e-2 SMART
EGF 160 194 2.28e0 SMART
EGF 199 232 1.4e0 SMART
EGF 236 272 4.97e-1 SMART
EGF 276 319 1.95e1 SMART
EGF_like 321 357 5.03e1 SMART
low complexity region 400 413 N/A INTRINSIC
Blast:FAS1 414 501 2e-52 BLAST
FAS1 543 645 1.35e-24 SMART
EGF_like 780 817 5.45e1 SMART
EGF 822 861 1.08e-1 SMART
EGF 865 904 3.15e-3 SMART
EGF 908 947 1.3e1 SMART
EGF 951 989 1.47e1 SMART
FAS1 1023 1122 1.3e-17 SMART
FAS1 1165 1257 2.94e0 SMART
EGF 1332 1369 1.4e0 SMART
EGF 1379 1413 1.88e-1 SMART
EGF 1420 1455 6.02e0 SMART
EGF 1459 1497 3.82e-2 SMART
EGF 1501 1540 2.05e-2 SMART
EGF 1544 1583 2.25e1 SMART
FAS1 1616 1712 1.61e-22 SMART
FAS1 1763 1868 2.12e-17 SMART
EGF 1970 2007 1.26e-2 SMART
EGF 2017 2051 1.61e0 SMART
EGF 2059 2090 2.45e0 SMART
EGF 2094 2131 3.46e0 SMART
EGF 2135 2174 3.82e-2 SMART
LINK 2206 2301 8.55e-49 SMART
FAS1 2367 2462 2.06e-6 SMART
transmembrane domain 2476 2498 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000159249
SMART Domains Protein: ENSMUSP00000125542
Gene: ENSMUSG00000042286

DomainStartEndE-ValueType
EGF 110 147 1.26e-2 SMART
EGF 157 191 1.61e0 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159480
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160720
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161129
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161631
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162763
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162169
Meta Mutation Damage Score 0.1236 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 99.0%
  • 10x: 97.8%
  • 20x: 96.3%
Validation Efficiency 100% (33/33)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a large, transmembrane receptor protein which may function in angiogenesis, lymphocyte homing, cell adhesion, or receptor scavenging. The protein contains 7 fasciclin, 16 epidermal growth factor (EGF)-like, and 2 laminin-type EGF-like domains as well as a C-type lectin-like hyaluronan-binding Link module. The protein is primarily expressed on sinusoidal endothelial cells of liver, spleen, and lymph node. The receptor has been shown to endocytose ligands such as low density lipoprotein, Gram-positive and Gram-negative bacteria, and advanced glycosylation end products. Supporting its possible role as a scavenger receptor, the protein rapidly cycles between the plasma membrane and early endosomes. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit no physical or behavioral abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AA986860 T A 1: 130,665,430 (GRCm39) probably benign Het
Atp7b T C 8: 22,517,842 (GRCm39) H332R probably benign Het
Bace2 C T 16: 97,158,141 (GRCm39) P47L possibly damaging Het
Cyp2c39 A G 19: 39,499,315 (GRCm39) M1V probably null Het
Dcbld2 A G 16: 58,275,610 (GRCm39) E442G probably damaging Het
Gm14496 A G 2: 181,642,308 (GRCm39) T660A probably damaging Het
Gm4945 A C 17: 47,353,796 (GRCm39) noncoding transcript Het
Gm6729 T C 10: 86,376,456 (GRCm39) noncoding transcript Het
Golga1 G A 2: 38,937,655 (GRCm39) R204W probably damaging Het
Guf1 T C 5: 69,723,729 (GRCm39) I348T probably damaging Het
Htra4 T A 8: 25,527,160 (GRCm39) I212L probably benign Het
Itih5 G A 2: 10,253,999 (GRCm39) R750Q probably benign Het
Lgalsl2 T C 7: 5,362,828 (GRCm39) I153T probably damaging Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Naip2 C T 13: 100,298,368 (GRCm39) G556D probably benign Het
Naip2 T C 13: 100,298,362 (GRCm39) E558G probably benign Het
Nsd1 T C 13: 55,425,403 (GRCm39) V1520A probably benign Het
Nuak1 C T 10: 84,211,144 (GRCm39) V315I probably damaging Het
Nup205 G T 6: 35,213,827 (GRCm39) G1740C probably damaging Het
Or1r1 G C 11: 73,874,685 (GRCm39) L250V probably damaging Het
Pclo T C 5: 14,726,700 (GRCm39) probably benign Het
Pik3r6 T C 11: 68,426,927 (GRCm39) probably benign Het
Pikfyve T A 1: 65,292,556 (GRCm39) F1336I probably damaging Het
Pla2r1 A G 2: 60,345,291 (GRCm39) I355T possibly damaging Het
Rgs22 A T 15: 36,104,048 (GRCm39) probably benign Het
Sec63 T A 10: 42,677,924 (GRCm39) M312K probably damaging Het
Slc2a5 T C 4: 150,227,287 (GRCm39) I401T probably benign Het
Slc9a8 G T 2: 167,276,787 (GRCm39) probably benign Het
Terb1 A T 8: 105,179,268 (GRCm39) I640N probably damaging Het
Tmem217 A G 17: 29,745,490 (GRCm39) L80P probably damaging Het
Topbp1 C T 9: 103,205,792 (GRCm39) P810L probably benign Het
Ttbk2 G A 2: 120,614,262 (GRCm39) R151C probably damaging Het
Vmn2r88 T G 14: 51,655,666 (GRCm39) L626R probably damaging Het
Other mutations in Stab1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00087:Stab1 APN 14 30,883,314 (GRCm39) missense probably benign 0.01
IGL00323:Stab1 APN 14 30,861,263 (GRCm39) missense probably benign 0.04
IGL00515:Stab1 APN 14 30,881,686 (GRCm39) missense probably benign 0.20
IGL00844:Stab1 APN 14 30,869,023 (GRCm39) missense probably damaging 1.00
IGL01374:Stab1 APN 14 30,869,032 (GRCm39) missense probably damaging 1.00
IGL01384:Stab1 APN 14 30,872,365 (GRCm39) missense probably benign
IGL01431:Stab1 APN 14 30,870,952 (GRCm39) missense probably benign 0.06
IGL01787:Stab1 APN 14 30,861,765 (GRCm39) missense probably damaging 1.00
IGL02128:Stab1 APN 14 30,872,398 (GRCm39) missense probably damaging 1.00
IGL02138:Stab1 APN 14 30,865,470 (GRCm39) critical splice donor site probably null
IGL02256:Stab1 APN 14 30,863,549 (GRCm39) missense probably damaging 1.00
IGL02340:Stab1 APN 14 30,862,367 (GRCm39) missense probably damaging 0.96
IGL02507:Stab1 APN 14 30,861,167 (GRCm39) unclassified probably benign
IGL02695:Stab1 APN 14 30,881,228 (GRCm39) missense probably damaging 1.00
IGL02755:Stab1 APN 14 30,861,595 (GRCm39) missense probably benign 0.01
IGL02870:Stab1 APN 14 30,861,354 (GRCm39) missense probably benign 0.00
IGL02884:Stab1 APN 14 30,872,100 (GRCm39) splice site probably null
IGL03035:Stab1 APN 14 30,869,726 (GRCm39) missense probably benign 0.00
IGL03267:Stab1 APN 14 30,864,686 (GRCm39) missense probably damaging 1.00
IGL03286:Stab1 APN 14 30,881,283 (GRCm39) splice site probably benign
IGL03366:Stab1 APN 14 30,872,220 (GRCm39) missense possibly damaging 0.58
IGL03412:Stab1 APN 14 30,876,364 (GRCm39) missense probably benign 0.42
R0906_Stab1_335 UTSW 14 30,867,206 (GRCm39) missense probably benign 0.19
R5086_Stab1_467 UTSW 14 30,881,261 (GRCm39) missense probably damaging 1.00
IGL02835:Stab1 UTSW 14 30,867,981 (GRCm39) critical splice donor site probably null
K7371:Stab1 UTSW 14 30,872,206 (GRCm39) missense probably damaging 1.00
R0053:Stab1 UTSW 14 30,862,644 (GRCm39) missense possibly damaging 0.57
R0053:Stab1 UTSW 14 30,862,644 (GRCm39) missense possibly damaging 0.57
R0066:Stab1 UTSW 14 30,879,027 (GRCm39) splice site probably benign
R0066:Stab1 UTSW 14 30,879,027 (GRCm39) splice site probably benign
R0363:Stab1 UTSW 14 30,880,965 (GRCm39) splice site probably benign
R0387:Stab1 UTSW 14 30,870,058 (GRCm39) missense probably benign 0.00
R0391:Stab1 UTSW 14 30,865,375 (GRCm39) missense probably benign 0.21
R0513:Stab1 UTSW 14 30,870,902 (GRCm39) missense probably benign 0.08
R0546:Stab1 UTSW 14 30,861,507 (GRCm39) missense possibly damaging 0.92
R0825:Stab1 UTSW 14 30,874,557 (GRCm39) missense probably benign 0.16
R0963:Stab1 UTSW 14 30,869,231 (GRCm39) missense probably damaging 0.97
R1219:Stab1 UTSW 14 30,862,578 (GRCm39) splice site probably null
R1234:Stab1 UTSW 14 30,872,193 (GRCm39) missense probably damaging 1.00
R1260:Stab1 UTSW 14 30,873,846 (GRCm39) missense probably damaging 1.00
R1400:Stab1 UTSW 14 30,861,787 (GRCm39) missense possibly damaging 0.92
R1405:Stab1 UTSW 14 30,870,958 (GRCm39) missense probably benign 0.19
R1405:Stab1 UTSW 14 30,870,958 (GRCm39) missense probably benign 0.19
R1440:Stab1 UTSW 14 30,873,647 (GRCm39) nonsense probably null
R1472:Stab1 UTSW 14 30,863,543 (GRCm39) missense probably benign 0.01
R1474:Stab1 UTSW 14 30,871,818 (GRCm39) missense probably benign 0.45
R1475:Stab1 UTSW 14 30,885,785 (GRCm39) missense probably benign
R1509:Stab1 UTSW 14 30,873,541 (GRCm39) splice site probably benign
R1551:Stab1 UTSW 14 30,882,456 (GRCm39) missense probably benign 0.00
R1572:Stab1 UTSW 14 30,872,780 (GRCm39) missense probably damaging 1.00
R1633:Stab1 UTSW 14 30,872,337 (GRCm39) splice site probably null
R1719:Stab1 UTSW 14 30,867,985 (GRCm39) nonsense probably null
R1733:Stab1 UTSW 14 30,867,260 (GRCm39) missense probably damaging 1.00
R1763:Stab1 UTSW 14 30,890,373 (GRCm39) missense probably benign 0.04
R1808:Stab1 UTSW 14 30,863,101 (GRCm39) missense possibly damaging 0.80
R1816:Stab1 UTSW 14 30,879,422 (GRCm39) missense probably benign 0.03
R1853:Stab1 UTSW 14 30,862,420 (GRCm39) missense probably damaging 1.00
R1891:Stab1 UTSW 14 30,863,287 (GRCm39) missense probably benign 0.07
R1984:Stab1 UTSW 14 30,872,605 (GRCm39) missense probably benign 0.20
R1998:Stab1 UTSW 14 30,884,110 (GRCm39) nonsense probably null
R2165:Stab1 UTSW 14 30,890,392 (GRCm39) missense probably benign 0.20
R2191:Stab1 UTSW 14 30,881,227 (GRCm39) missense probably damaging 1.00
R2191:Stab1 UTSW 14 30,864,757 (GRCm39) missense probably benign 0.03
R2233:Stab1 UTSW 14 30,883,837 (GRCm39) missense probably benign 0.08
R2303:Stab1 UTSW 14 30,868,027 (GRCm39) missense probably damaging 1.00
R2496:Stab1 UTSW 14 30,883,420 (GRCm39) missense probably damaging 1.00
R2504:Stab1 UTSW 14 30,884,997 (GRCm39) critical splice donor site probably null
R2519:Stab1 UTSW 14 30,876,829 (GRCm39) missense probably damaging 1.00
R2926:Stab1 UTSW 14 30,883,756 (GRCm39) missense probably damaging 1.00
R4025:Stab1 UTSW 14 30,876,909 (GRCm39) missense possibly damaging 0.46
R4113:Stab1 UTSW 14 30,890,436 (GRCm39) missense probably damaging 0.98
R4258:Stab1 UTSW 14 30,876,629 (GRCm39) missense possibly damaging 0.92
R4588:Stab1 UTSW 14 30,879,402 (GRCm39) missense probably benign 0.01
R4644:Stab1 UTSW 14 30,862,444 (GRCm39) unclassified probably benign
R4660:Stab1 UTSW 14 30,876,872 (GRCm39) missense possibly damaging 0.91
R4801:Stab1 UTSW 14 30,863,328 (GRCm39) nonsense probably null
R4802:Stab1 UTSW 14 30,863,328 (GRCm39) nonsense probably null
R4870:Stab1 UTSW 14 30,864,000 (GRCm39) missense probably benign 0.13
R4872:Stab1 UTSW 14 30,862,350 (GRCm39) missense probably damaging 1.00
R4881:Stab1 UTSW 14 30,865,629 (GRCm39) missense probably benign 0.32
R4941:Stab1 UTSW 14 30,873,528 (GRCm39) missense probably benign 0.00
R5061:Stab1 UTSW 14 30,885,056 (GRCm39) missense probably damaging 1.00
R5086:Stab1 UTSW 14 30,881,261 (GRCm39) missense probably damaging 1.00
R5086:Stab1 UTSW 14 30,865,581 (GRCm39) missense probably damaging 1.00
R5087:Stab1 UTSW 14 30,881,261 (GRCm39) missense probably damaging 1.00
R5092:Stab1 UTSW 14 30,867,812 (GRCm39) missense probably benign 0.01
R5102:Stab1 UTSW 14 30,869,974 (GRCm39) critical splice donor site probably null
R5107:Stab1 UTSW 14 30,885,752 (GRCm39) splice site probably null
R5195:Stab1 UTSW 14 30,862,478 (GRCm39) unclassified probably benign
R5217:Stab1 UTSW 14 30,881,476 (GRCm39) missense probably benign 0.25
R5285:Stab1 UTSW 14 30,865,433 (GRCm39) unclassified probably benign
R5327:Stab1 UTSW 14 30,883,793 (GRCm39) nonsense probably null
R5647:Stab1 UTSW 14 30,879,397 (GRCm39) nonsense probably null
R5696:Stab1 UTSW 14 30,882,178 (GRCm39) missense probably benign
R5996:Stab1 UTSW 14 30,861,508 (GRCm39) missense probably benign 0.39
R6016:Stab1 UTSW 14 30,880,950 (GRCm39) missense probably damaging 1.00
R6017:Stab1 UTSW 14 30,863,501 (GRCm39) missense probably benign 0.00
R6174:Stab1 UTSW 14 30,884,476 (GRCm39) nonsense probably null
R6366:Stab1 UTSW 14 30,863,395 (GRCm39) missense probably benign 0.10
R6754:Stab1 UTSW 14 30,863,038 (GRCm39) missense probably benign
R6788:Stab1 UTSW 14 30,861,117 (GRCm39) missense probably damaging 1.00
R6898:Stab1 UTSW 14 30,880,920 (GRCm39) missense probably benign 0.00
R7124:Stab1 UTSW 14 30,882,824 (GRCm39) missense possibly damaging 0.94
R7145:Stab1 UTSW 14 30,867,030 (GRCm39) critical splice donor site probably null
R7153:Stab1 UTSW 14 30,882,541 (GRCm39) missense probably benign 0.16
R7213:Stab1 UTSW 14 30,865,630 (GRCm39) missense probably benign
R7215:Stab1 UTSW 14 30,882,754 (GRCm39) missense possibly damaging 0.93
R7319:Stab1 UTSW 14 30,862,783 (GRCm39) missense probably damaging 1.00
R7389:Stab1 UTSW 14 30,869,196 (GRCm39) missense probably benign 0.00
R7400:Stab1 UTSW 14 30,879,341 (GRCm39) missense probably null 1.00
R7427:Stab1 UTSW 14 30,881,216 (GRCm39) missense probably benign 0.00
R7428:Stab1 UTSW 14 30,881,216 (GRCm39) missense probably benign 0.00
R7484:Stab1 UTSW 14 30,882,274 (GRCm39) missense probably benign 0.00
R7568:Stab1 UTSW 14 30,874,552 (GRCm39) missense probably damaging 1.00
R7574:Stab1 UTSW 14 30,876,622 (GRCm39) missense probably benign
R7619:Stab1 UTSW 14 30,867,194 (GRCm39) missense probably benign
R7623:Stab1 UTSW 14 30,862,578 (GRCm39) missense probably benign 0.03
R7721:Stab1 UTSW 14 30,863,413 (GRCm39) missense possibly damaging 0.48
R7869:Stab1 UTSW 14 30,876,429 (GRCm39) missense probably benign 0.01
R7936:Stab1 UTSW 14 30,879,372 (GRCm39) missense possibly damaging 0.88
R7956:Stab1 UTSW 14 30,881,981 (GRCm39) missense probably benign 0.02
R7973:Stab1 UTSW 14 30,881,590 (GRCm39) critical splice donor site probably null
R8059:Stab1 UTSW 14 30,882,198 (GRCm39) missense probably benign 0.02
R8116:Stab1 UTSW 14 30,880,910 (GRCm39) missense possibly damaging 0.80
R8304:Stab1 UTSW 14 30,870,911 (GRCm39) missense probably benign 0.14
R8368:Stab1 UTSW 14 30,870,368 (GRCm39) missense possibly damaging 0.91
R8495:Stab1 UTSW 14 30,877,790 (GRCm39) missense probably damaging 1.00
R8513:Stab1 UTSW 14 30,871,747 (GRCm39) critical splice donor site probably null
R8544:Stab1 UTSW 14 30,885,008 (GRCm39) nonsense probably null
R8671:Stab1 UTSW 14 30,879,365 (GRCm39) missense probably damaging 1.00
R8885:Stab1 UTSW 14 30,883,771 (GRCm39) missense possibly damaging 0.79
R8974:Stab1 UTSW 14 30,882,779 (GRCm39) missense probably benign
R9022:Stab1 UTSW 14 30,882,226 (GRCm39) missense probably benign 0.01
R9059:Stab1 UTSW 14 30,876,805 (GRCm39) missense probably benign 0.01
R9226:Stab1 UTSW 14 30,867,812 (GRCm39) missense probably benign 0.00
R9272:Stab1 UTSW 14 30,867,298 (GRCm39) missense probably benign 0.05
R9388:Stab1 UTSW 14 30,876,312 (GRCm39) missense probably damaging 1.00
R9401:Stab1 UTSW 14 30,883,069 (GRCm39) missense probably benign
R9433:Stab1 UTSW 14 30,865,531 (GRCm39) missense probably benign 0.00
R9450:Stab1 UTSW 14 30,884,896 (GRCm39) missense possibly damaging 0.62
R9505:Stab1 UTSW 14 30,877,722 (GRCm39) missense probably damaging 1.00
R9570:Stab1 UTSW 14 30,864,638 (GRCm39) missense probably benign 0.01
R9624:Stab1 UTSW 14 30,863,345 (GRCm39) missense
R9694:Stab1 UTSW 14 30,876,901 (GRCm39) missense probably benign 0.06
R9723:Stab1 UTSW 14 30,885,848 (GRCm39) missense probably benign 0.10
X0026:Stab1 UTSW 14 30,884,148 (GRCm39) missense possibly damaging 0.91
Z1176:Stab1 UTSW 14 30,872,617 (GRCm39) missense probably benign 0.00
Z1176:Stab1 UTSW 14 30,863,995 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CATTGGCAGATCCCACAGACGTAG -3'
(R):5'- AACCTCAAAGTGCAGGACTGGC -3'

Sequencing Primer
(F):5'- CGTAGGAACAGTACCGTCAATAG -3'
(R):5'- AGTGCAGGACTGGCTATCATC -3'
Posted On 2013-11-08