Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01787:Stab1'

155090

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL01787

Quality Score

Status

Chromosome

Chromosomal Location

30860970-30890598 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 30861765 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 14 (D14G)

Ref Sequence

ENSEMBL: ENSMUSP00000125239 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036618] [ENSMUST00000090212] [ENSMUST00000159249] [ENSMUST00000160024] [ENSMUST00000227096] [ENSMUST00000227794] [ENSMUST00000226588]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000036618
AA Change: D2444G

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

SMART Domains

Protein: ENSMUSP00000046199
Gene: ENSMUSG00000042286
AA Change: D2444G

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

probably benign
Transcript: ENSMUST00000090212

SMART Domains

Protein: ENSMUSP00000087680
Gene: ENSMUSG00000071547

Domain	Start	End	E-Value	Type
Pfam:5_nucleotid	1	367	1.5e-123	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159208

Predicted Effect

probably benign
Transcript: ENSMUST00000159249

SMART Domains

Protein: ENSMUSP00000125542
Gene: ENSMUSG00000042286

Domain	Start	End	E-Value	Type
EGF	110	147	1.26e-2	SMART
EGF	157	191	1.61e0	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159480

Predicted Effect

probably damaging
Transcript: ENSMUST00000160024
AA Change: D14G

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

SMART Domains

Protein: ENSMUSP00000125239
Gene: ENSMUSG00000042286
AA Change: D14G

Domain	Start	End	E-Value	Type
Blast:FAS1	1	32	5e-14	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160720

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162169

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161129

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162763

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161631

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227690

Predicted Effect

probably benign
Transcript: ENSMUST00000226975

Predicted Effect

probably benign
Transcript: ENSMUST00000227096

Predicted Effect

probably benign
Transcript: ENSMUST00000227794

Predicted Effect

probably benign
Transcript: ENSMUST00000226588

Coding Region Coverage

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: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahctf1	A	G	1: 179,580,887 (GRCm39)	S1772P	probably benign	Het
Cstdc3	T	A	16: 36,131,591 (GRCm39)	Y34N	probably damaging	Het
Epsti1	T	C	14: 78,210,052 (GRCm39)		probably null	Het
Mtrr	A	T	13: 68,719,266 (GRCm39)	L325Q	probably damaging	Het
Neb	T	C	2: 52,186,367 (GRCm39)	K902E	possibly damaging	Het
Nfkbie	T	C	17: 45,867,189 (GRCm39)	L108P	probably damaging	Het
Or2n1d	T	A	17: 38,646,470 (GRCm39)	C141S	probably damaging	Het
Or4c52	A	T	2: 89,845,655 (GRCm39)	Y127F	probably damaging	Het
Pcdh15	A	G	10: 74,286,115 (GRCm39)	D712G	probably benign	Het
Polr3k	T	C	2: 181,506,251 (GRCm39)		probably benign	Het
Shkbp1	A	C	7: 27,041,875 (GRCm39)	F660V	possibly damaging	Het
Smchd1	T	C	17: 71,698,413 (GRCm39)	D1121G	probably damaging	Het
Srgap3	A	T	6: 112,699,983 (GRCm39)	D998E	probably benign	Het
Tap1	T	C	17: 34,415,578 (GRCm39)	S641P	probably benign	Het
Tgm3	C	T	2: 129,889,660 (GRCm39)	S618F	possibly damaging	Het
Tgm6	T	C	2: 129,993,354 (GRCm39)		probably benign	Het
Tmco5	A	T	2: 116,717,781 (GRCm39)	E194D	probably damaging	Het
Treml4	T	A	17: 48,571,732 (GRCm39)	V45E	probably damaging	Het
Uggt2	A	T	14: 119,319,146 (GRCm39)	M292K	probably damaging	Het
Usp5	A	T	6: 124,801,189 (GRCm39)	D179E	possibly damaging	Het
Ythdf1	A	G	2: 180,553,486 (GRCm39)	L216P	probably damaging	Het
Zfp948	C	T	17: 21,807,333 (GRCm39)	A175V	probably benign	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
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
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

Posted On

2014-02-04