Incidental Mutation 'R1551:Stab1'
ID 169948
Institutional Source Beutler Lab
Gene Symbol Stab1
Ensembl Gene ENSMUSG00000042286
Gene Name stabilin 1
Synonyms MS-1
MMRRC Submission 039590-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1551 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 30860970-30890598 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 30882456 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 460 (N460K)
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: N460K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000046199
Gene: ENSMUSG00000042286
AA Change: N460K

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 noncoding transcript
Transcript: ENSMUST00000159532
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159757
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161464
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.7%
  • 10x: 94.0%
  • 20x: 83.4%
Validation Efficiency
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A G 7: 119,918,101 (GRCm39) I1534M probably benign Het
Acad11 G A 9: 104,003,785 (GRCm39) A626T probably damaging Het
Akap9 T A 5: 4,119,174 (GRCm39) N3560K probably benign Het
Aldh3a2 C T 11: 61,144,470 (GRCm39) V363I probably benign Het
Anks1b A G 10: 89,912,843 (GRCm39) T289A probably benign Het
Atp11a A G 8: 12,862,340 (GRCm39) N64S probably damaging Het
Atp11c T C X: 59,282,072 (GRCm39) probably null Het
Cd101 T C 3: 100,919,329 (GRCm39) H591R probably damaging Het
Cd36 C T 5: 18,002,120 (GRCm39) V294I probably benign Het
Cfap47 C A X: 78,532,251 (GRCm39) L842F probably damaging Het
Cgref1 T C 5: 31,090,929 (GRCm39) E295G probably benign Het
Cit A G 5: 116,083,901 (GRCm39) M787V probably benign Het
Clcn6 G A 4: 148,097,235 (GRCm39) P611S possibly damaging Het
Clec12a A C 6: 129,327,384 (GRCm39) M1L probably damaging Het
Cmtm6 C T 9: 114,575,573 (GRCm39) R161W probably damaging Het
Colec10 G T 15: 54,325,658 (GRCm39) V163L probably damaging Het
Coq8b A G 7: 26,956,907 (GRCm39) Y520C probably damaging Het
Ctsll3 C A 13: 60,948,821 (GRCm39) E45* probably null Het
Dsg3 A G 18: 20,669,975 (GRCm39) E663G possibly damaging Het
Dst G A 1: 34,231,293 (GRCm39) R2962H probably benign Het
Etnk2 T C 1: 133,300,995 (GRCm39) I254T probably damaging Het
Fbxo36 T C 1: 84,858,835 (GRCm39) I40T probably damaging Het
Fgd2 G A 17: 29,597,383 (GRCm39) V568M probably damaging Het
Fmn1 T C 2: 113,356,207 (GRCm39) Y883H possibly damaging Het
Fpr-rs4 A T 17: 18,242,589 (GRCm39) T199S possibly damaging Het
Gm12789 A G 4: 101,846,131 (GRCm39) K131E probably benign Het
Gm17641 C A 3: 68,777,448 (GRCm39) silent Het
Gm6665 G T 18: 31,953,340 (GRCm39) R43S probably damaging Het
Gzmc T A 14: 56,470,203 (GRCm39) H98L probably damaging Het
Hecw1 T A 13: 14,491,528 (GRCm39) E75V probably damaging Het
Herc2 G T 7: 55,796,417 (GRCm39) V1930L probably benign Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Htr6 A T 4: 138,801,776 (GRCm39) C99* probably null Het
Lgals2 C T 15: 78,736,511 (GRCm39) M16I probably benign Het
Lrrc8c A G 5: 105,756,090 (GRCm39) N622D probably damaging Het
Myo15a A T 11: 60,383,791 (GRCm39) I1613F possibly damaging Het
Oacyl C T 18: 65,875,280 (GRCm39) R455C probably benign Het
Or13c25 A T 4: 52,911,397 (GRCm39) Y132* probably null Het
Or5ac21 T A 16: 59,123,766 (GRCm39) N84K probably benign Het
Or5bh3 T C X: 49,098,872 (GRCm39) T81A possibly damaging Het
Orm3 A G 4: 63,275,146 (GRCm39) probably null Het
Phf2 G C 13: 48,985,579 (GRCm39) T67S unknown Het
Phf2 A G 13: 48,957,079 (GRCm39) L1096P probably damaging Het
Pigt T C 2: 164,349,323 (GRCm39) V542A probably damaging Het
Pnpla7 T C 2: 24,937,720 (GRCm39) F992L probably benign Het
Ppp2r5e C G 12: 75,516,341 (GRCm39) A239P probably damaging Het
Pramel11 A G 4: 143,622,263 (GRCm39) M364T probably benign Het
Prmt7 A G 8: 106,964,014 (GRCm39) T303A probably benign Het
Prpf4b A T 13: 35,078,426 (GRCm39) I679F possibly damaging Het
Psd4 T A 2: 24,293,292 (GRCm39) M719K probably benign Het
Ranbp9 A T 13: 43,578,593 (GRCm39) M160K probably benign Het
Rfc1 A G 5: 65,434,706 (GRCm39) Y687H probably damaging Het
Rimbp2 T C 5: 128,883,423 (GRCm39) K119R probably damaging Het
Rnf113a1 T C X: 36,455,046 (GRCm39) M1T probably null Het
Rnf40 A C 7: 127,195,506 (GRCm39) K511Q possibly damaging Het
Ryr2 T A 13: 11,800,029 (GRCm39) probably null Het
Scrib A T 15: 75,937,011 (GRCm39) V365E probably damaging Het
Slc6a17 A G 3: 107,379,443 (GRCm39) V575A possibly damaging Het
Spta1 A G 1: 174,067,732 (GRCm39) N2053S possibly damaging Het
Ssbp2 G A 13: 91,790,511 (GRCm39) probably null Het
Tbc1d9 T A 8: 83,992,787 (GRCm39) C964S probably benign Het
Tmed11 A G 5: 108,927,680 (GRCm39) probably null Het
Tmem191 C A 16: 17,095,984 (GRCm39) R285S probably damaging Het
Tpr T C 1: 150,312,552 (GRCm39) S1917P probably benign Het
Vill A T 9: 118,892,440 (GRCm39) H357L probably benign Het
Vmn1r229 A G 17: 21,035,051 (GRCm39) T99A probably benign Het
Vmn2r14 A G 5: 109,369,283 (GRCm39) S97P probably damaging Het
Wasf2 G T 4: 132,917,483 (GRCm39) R194L unknown 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
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'- CGTATGGAAGACCCCATTAGCTGC -3'
(R):5'- TGCCAGGAGATTCTTACCACGTCG -3'

Sequencing Primer
(F):5'- CCTTGTGGATGCTGAACTGC -3'
(R):5'- CTGATAGTAGGTCATGAACTCCC -3'
Posted On 2014-04-13