Mutagenetix > Incidental Mutation

Incidental Mutation 'R6016:Stab1'

478609

Institutional Source

Beutler Lab

Gene Symbol

Stab1

Ensembl Gene

ENSMUSG00000042286

Gene Name

stabilin 1

Synonyms

MS-1

MMRRC Submission

043255-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6016 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

30860970-30890598 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 30880950 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 614 (I614N)

Ref Sequence

ENSEMBL: ENSMUSP00000046199 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036618]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000036618
AA Change: I614N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000046199
Gene: ENSMUSG00000042286
AA Change: I614N

Domain	Start	End	E-Value	Type
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: 99.9%
3x: 99.4%
10x: 97.0%
20x: 90.5%

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apol9b	T	C	15: 77,620,058 (GRCm39)	S285P	probably damaging	Het
Casz1	C	A	4: 149,019,041 (GRCm39)	N447K	probably damaging	Het
Cltb	T	C	13: 54,754,480 (GRCm39)	T71A	possibly damaging	Het
Dcaf12	A	G	4: 41,313,267 (GRCm39)	F93L	probably damaging	Het
Dnah5	T	C	15: 28,328,030 (GRCm39)	Y2135H	probably damaging	Het
Entpd2	C	T	2: 25,288,568 (GRCm39)	R191W	probably damaging	Het
Gm17067	G	T	7: 42,357,654 (GRCm39)	P283T	probably benign	Het
Gm3250	A	G	10: 77,618,367 (GRCm39)		probably benign	Het
Gne	T	C	4: 44,039,063 (GRCm39)	E532G	probably damaging	Het
Gsdmc3	T	G	15: 63,740,261 (GRCm39)	D86A	probably benign	Het
Hs3st2	A	G	7: 121,099,922 (GRCm39)	H256R	probably damaging	Het
Il19	T	A	1: 130,863,718 (GRCm39)	D16V	probably damaging	Het
Lats2	A	T	14: 57,971,632 (GRCm39)	N14K	probably damaging	Het
Mill2	G	T	7: 18,590,373 (GRCm39)	S151I	probably benign	Het
Ncapg2	G	A	12: 116,390,227 (GRCm39)	R392H	probably damaging	Het
Nop56	T	C	2: 130,118,545 (GRCm39)		probably null	Het
Or14j8	A	T	17: 38,262,967 (GRCm39)	V316D	probably benign	Het
Or2bd2	A	T	7: 6,443,613 (GRCm39)	H238L	probably benign	Het
Or5p5	A	T	7: 107,414,219 (GRCm39)	I143F	probably benign	Het
Pde1a	T	C	2: 79,695,406 (GRCm39)	R446G	probably benign	Het
Pes1	T	A	11: 3,928,004 (GRCm39)	M552K	possibly damaging	Het
Plxnb2	T	A	15: 89,045,225 (GRCm39)	T1074S	possibly damaging	Het
Psg23	G	T	7: 18,346,112 (GRCm39)	H194Q	probably benign	Het
Rprd2	A	G	3: 95,694,685 (GRCm39)	V116A	probably damaging	Het
Shkbp1	A	G	7: 27,053,826 (GRCm39)	V124A	possibly damaging	Het
Slc38a8	A	T	8: 120,221,044 (GRCm39)		probably null	Het
Slitrk6	A	G	14: 110,987,958 (GRCm39)	V583A	probably benign	Het
Sptbn5	G	T	2: 119,880,573 (GRCm39)		noncoding transcript	Het
Tgm6	A	G	2: 129,983,148 (GRCm39)	T246A	probably damaging	Het
Tnks1bp1	T	C	2: 84,882,734 (GRCm39)	L187P	probably damaging	Het
Vmn1r157	A	G	7: 22,461,272 (GRCm39)	R51G	possibly damaging	Het
Vmn2r68	A	T	7: 84,871,453 (GRCm39)	I610K	probably damaging	Het

Other mutations in Stab1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- TTCTGGGACTACAACACGACAG -3'
(R):5'- TGAATACCATGGTGGGCAG -3'

Sequencing Primer
(F):5'- CCACATTCTAGGGACAGGGTCTTG -3'
(R):5'- GGACACTTGATGAAGCCCCAG -3'

Posted On

2017-06-26