Mutagenetix > Incidental Mutation

Incidental Mutation 'R1405:Stab1'

188706

Institutional Source

Beutler Lab

Gene Symbol

Stab1

Ensembl Gene

ENSMUSG00000042286

Gene Name

stabilin 1

Synonyms

MS-1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1405 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

30860970-30890598 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 30870958 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 1297 (V1297G)

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: V1297G

PolyPhen 2 Score 0.186 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000046199
Gene: ENSMUSG00000042286
AA Change: V1297G

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: ENSMUST00000161129

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.2%

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	G	A	4: 53,059,253 (GRCm39)		probably benign	Het
AC163020.1	A	G	7: 46,959,305 (GRCm39)	S229P	possibly damaging	Het
Arap1	G	A	7: 101,047,643 (GRCm39)		probably null	Het
Asb8	G	A	15: 98,039,248 (GRCm39)	H51Y	possibly damaging	Het
Capn10	T	G	1: 92,872,744 (GRCm39)	V490G	probably benign	Het
Ccdc138	T	A	10: 58,380,939 (GRCm39)		probably benign	Het
Ccdc146	G	A	5: 21,604,730 (GRCm39)	S36L	probably benign	Het
Celsr1	C	T	15: 85,789,635 (GRCm39)		probably null	Het
Clvs2	C	A	10: 33,389,256 (GRCm39)	*328L	probably null	Het
Cul9	C	G	17: 46,833,101 (GRCm39)	A1326P	probably damaging	Het
D6Wsu163e	G	A	6: 126,951,446 (GRCm39)		probably benign	Het
Dstn	A	G	2: 143,780,356 (GRCm39)	K19E	probably damaging	Het
Ehmt2	T	A	17: 35,125,553 (GRCm39)	H134Q	probably benign	Het
Faah	G	A	4: 115,858,345 (GRCm39)	P411S	probably damaging	Het
Fn1	A	G	1: 71,681,237 (GRCm39)	F364L	probably damaging	Het
Gm5828	T	C	1: 16,839,768 (GRCm39)		noncoding transcript	Het
Gmnc	A	T	16: 26,779,196 (GRCm39)	N270K	possibly damaging	Het
Grip2	A	T	6: 91,765,133 (GRCm39)		probably null	Het
Hmg20a	A	T	9: 56,384,587 (GRCm39)	Q119L	possibly damaging	Het
Ipo7	T	C	7: 109,629,048 (GRCm39)	I106T	probably benign	Het
Ipo7	C	T	7: 109,638,456 (GRCm39)	P241L	probably damaging	Het
Katnb1	T	C	8: 95,824,801 (GRCm39)	Y574H	probably damaging	Het
Larp6	A	C	9: 60,644,849 (GRCm39)	M330L	probably benign	Het
Lrrc8e	T	C	8: 4,281,754 (GRCm39)	Y30H	probably damaging	Het
Nav3	A	T	10: 109,606,194 (GRCm39)		probably benign	Het
Nop56	T	C	2: 130,119,868 (GRCm39)	V420A	probably benign	Het
Nrg1	T	C	8: 32,407,855 (GRCm39)	D126G	probably benign	Het
Prdm1	T	A	10: 44,315,961 (GRCm39)	N725I	probably damaging	Het
Prl3a1	A	G	13: 27,459,051 (GRCm39)		probably null	Het
Psmd2	T	C	16: 20,471,034 (GRCm39)	L59P	possibly damaging	Het
Ptgdr2	T	C	19: 10,918,395 (GRCm39)	V304A	probably benign	Het
Ptp4a2	T	A	4: 129,738,851 (GRCm39)		probably benign	Het
Rasa3	A	G	8: 13,638,027 (GRCm39)	V339A	possibly damaging	Het
Sec24c	G	A	14: 20,742,593 (GRCm39)		probably null	Het
Serpinb9e	A	G	13: 33,444,009 (GRCm39)	D343G	probably benign	Het
Sptbn5	A	T	2: 119,881,097 (GRCm39)		noncoding transcript	Het
Stk4	C	T	2: 163,942,448 (GRCm39)	T360M	probably benign	Het
Tafa5	C	T	15: 87,565,678 (GRCm39)		probably benign	Het
Tmprss2	G	A	16: 97,398,005 (GRCm39)	T57I	probably benign	Het
Tnrc6a	A	G	7: 122,770,301 (GRCm39)	D697G	probably damaging	Het
Vwa5b2	T	A	16: 20,423,066 (GRCm39)	D1021E	probably benign	Het
Wdr46	C	A	17: 34,168,057 (GRCm39)	P543Q	probably damaging	Het
Zfp1005	T	A	2: 150,109,620 (GRCm39)	Y103*	probably null	Het
Zfp287	T	A	11: 62,619,137 (GRCm39)	D119V	probably damaging	Het
Zxdc	A	G	6: 90,361,225 (GRCm39)	S737G	possibly 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
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'- ATTGAAGGCTCAGCATCTCTGCTC -3'
(R):5'- AAACTTGTAGCCCAGACCTGGTCC -3'

Sequencing Primer
(F):5'- AGCATCTCTGCTCTTGAAATCAATC -3'
(R):5'- GTCTGCCAGCCCATTATCAG -3'

Posted On

2014-05-09