Incidental Mutation 'R7484:Stab1'
ID 580018
Institutional Source Beutler Lab
Gene Symbol Stab1
Ensembl Gene ENSMUSG00000042286
Gene Name stabilin 1
Synonyms MS-1
MMRRC Submission 045558-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7484 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 30860970-30890598 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 30882274 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 474 (F474L)
Ref Sequence ENSEMBL: ENSMUSP00000046199 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036618]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000036618
AA Change: F474L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000046199
Gene: ENSMUSG00000042286
AA Change: F474L

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 98% (65/66)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm5 A G 4: 144,504,521 (GRCm39) L210P probably damaging Het
Acacb G A 5: 114,356,923 (GRCm39) V1285I probably damaging Het
Acly A T 11: 100,386,789 (GRCm39) I591N probably damaging Het
Acr T A 15: 89,457,427 (GRCm39) V225E probably damaging Het
Actr8 A G 14: 29,714,925 (GRCm39) D580G probably damaging Het
Adamts12 C A 15: 11,345,734 (GRCm39) Q1592K probably benign Het
Aire T C 10: 77,878,404 (GRCm39) E138G probably damaging Het
Apob C T 12: 8,056,884 (GRCm39) Q1789* probably null Het
Cbx5 A C 15: 103,114,256 (GRCm39) probably null Het
Cd300lb A T 11: 114,819,345 (GRCm39) W95R probably damaging Het
Cdc16 A G 8: 13,827,605 (GRCm39) T504A probably benign Het
Cenpf A G 1: 189,389,018 (GRCm39) S1605P probably damaging Het
Ckap2l A G 2: 129,114,455 (GRCm39) V596A possibly damaging Het
Cntn1 T C 15: 92,151,922 (GRCm39) W454R probably benign Het
Crat C T 2: 30,294,577 (GRCm39) R497Q probably benign Het
Csf2rb A G 15: 78,223,099 (GRCm39) T104A possibly damaging Het
Cyp4a12b A G 4: 115,289,760 (GRCm39) D209G possibly damaging Het
Ddx23 T C 15: 98,546,570 (GRCm39) E533G probably damaging Het
Dscaml1 A G 9: 45,660,744 (GRCm39) probably null Het
Eif3l T G 15: 78,968,336 (GRCm39) C202G probably benign Het
Ephx4 T G 5: 107,577,612 (GRCm39) M312R probably damaging Het
Erich6 A T 3: 58,534,112 (GRCm39) probably null Het
Far2 G A 6: 148,075,411 (GRCm39) D424N probably damaging Het
Fat1 C A 8: 45,489,221 (GRCm39) N3497K probably damaging Het
Fstl3 G A 10: 79,615,865 (GRCm39) C117Y probably damaging Het
Fyb2 A T 4: 104,870,499 (GRCm39) H700L probably benign Het
Gm8356 T A 14: 17,691,282 (GRCm39) M128L probably benign Het
Golim4 G T 3: 75,805,442 (GRCm39) probably null Het
Grm1 T G 10: 10,622,403 (GRCm39) D440A probably benign Het
Gtf2a1 A G 12: 91,529,747 (GRCm39) V322A probably benign Het
Hid1 T C 11: 115,243,407 (GRCm39) probably null Het
Igfals G A 17: 25,098,962 (GRCm39) V18M possibly damaging Het
Klk1b24 G T 7: 43,839,688 (GRCm39) probably null Het
Lmbr1 T C 5: 29,551,850 (GRCm39) probably benign Het
Lrrc40 T C 3: 157,746,194 (GRCm39) S90P probably benign Het
Mapk9 T C 11: 49,763,663 (GRCm39) Y185H probably damaging Het
Marveld2 C T 13: 100,748,068 (GRCm39) G337D probably damaging Het
Mga G T 2: 119,776,710 (GRCm39) R1539L probably damaging Het
Mllt6 T A 11: 97,563,442 (GRCm39) S342T probably benign Het
Ms4a6c T C 19: 11,449,893 (GRCm39) probably null Het
Muc16 T A 9: 18,558,064 (GRCm39) H2743L unknown Het
Myl10 G C 5: 136,726,825 (GRCm39) V70L probably benign Het
Or10ag60 T C 2: 87,438,281 (GRCm39) F183S probably damaging Het
Or2l13 A G 16: 19,305,753 (GRCm39) H55R possibly damaging Het
Plcd3 T G 11: 102,962,545 (GRCm39) K635N probably damaging Het
Prkch T A 12: 73,632,301 (GRCm39) probably null Het
Rb1cc1 T C 1: 6,344,441 (GRCm39) V1570A probably damaging Het
Rp1 T C 1: 4,415,704 (GRCm39) N1803D probably benign Het
Rufy3 T A 5: 88,746,331 (GRCm39) V72E probably benign Het
Secisbp2l G A 2: 125,613,452 (GRCm39) Q181* probably null Het
Sgcb A G 5: 73,797,188 (GRCm39) F191L possibly damaging Het
Sgsh T A 11: 119,237,183 (GRCm39) D477V probably damaging Het
Shoc1 A T 4: 59,062,286 (GRCm39) V924E probably damaging Het
Slc22a28 C A 19: 8,048,492 (GRCm39) S385I probably benign Het
Slc26a3 T C 12: 31,497,787 (GRCm39) V47A probably benign Het
Slco2a1 A T 9: 102,945,185 (GRCm39) I187F probably damaging Het
Sltm T C 9: 70,481,179 (GRCm39) S344P unknown Het
Sort1 A G 3: 108,246,141 (GRCm39) T373A probably damaging Het
Tbc1d5 G T 17: 51,224,573 (GRCm39) A326E possibly damaging Het
Tcstv4 A T 13: 120,770,017 (GRCm39) K112N probably damaging Het
Vwa8 A C 14: 79,219,674 (GRCm39) probably null Het
Wdr70 G A 15: 7,951,562 (GRCm39) T425I probably benign Het
Zfp30 T C 7: 29,492,231 (GRCm39) Y243H probably benign Het
Zfp974 A T 7: 27,611,559 (GRCm39) N55K possibly damaging Het
Zftraf1 A G 15: 76,530,435 (GRCm39) L295P 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
R0906:Stab1 UTSW 14 30,867,206 (GRCm39) missense probably benign 0.19
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
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'- TATAAGAGCCCCAGGACAGG -3'
(R):5'- TGAACGGGATCTCAGACTGG -3'

Sequencing Primer
(F):5'- AGGAGCCTAGCCTCTGCAAG -3'
(R):5'- ATCTCAGACTGGGGCCAGAG -3'
Posted On 2019-10-07