Mutagenetix > Incidental Mutation

Incidental Mutation 'R2519:Stab1'

254248

Institutional Source

Beutler Lab

Gene Symbol

Stab1

Ensembl Gene

ENSMUSG00000042286

Gene Name

stabilin 1

Synonyms

MS-1

MMRRC Submission

040423-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2519 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

30860970-30890598 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 30876829 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 832 (C832S)

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: C832S

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

SMART Domains

Protein: ENSMUSP00000046199
Gene: ENSMUSG00000042286
AA Change: C832S

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

Meta Mutation Damage Score

0.9596

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

99% (72/73)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933408J17Rik	G	A	10: 93,425,450 (GRCm39)		probably benign	Het
Abtb3	T	A	10: 85,487,475 (GRCm39)	V981D	probably damaging	Het
Actn1	A	T	12: 80,239,163 (GRCm39)	H247Q	probably damaging	Het
Adgre1	T	C	17: 57,717,956 (GRCm39)	C323R	probably damaging	Het
Adgrf2	T	A	17: 43,021,298 (GRCm39)	I509F	probably damaging	Het
Aknad1	A	T	3: 108,663,784 (GRCm39)	T331S	probably damaging	Het
Aldh1a3	T	C	7: 66,072,047 (GRCm39)	D39G	probably benign	Het
Alms1	C	A	6: 85,644,945 (GRCm39)		probably benign	Het
Ankhd1	T	G	18: 36,711,596 (GRCm39)		probably null	Het
Arfgef2	T	C	2: 166,723,164 (GRCm39)	S1535P	probably benign	Het
Bicc1	T	C	10: 70,766,474 (GRCm39)	E916G	probably damaging	Het
Birc2	A	T	9: 7,821,180 (GRCm39)	D381E	possibly damaging	Het
Carnmt1	A	G	19: 18,671,075 (GRCm39)	I316V	probably benign	Het
Cdk2ap1rt	A	G	11: 48,716,950 (GRCm39)	I76T	probably damaging	Het
Chd6	T	A	2: 160,871,796 (GRCm39)	Y213F	possibly damaging	Het
Coq7	A	T	7: 118,109,371 (GRCm39)	W226R	unknown	Het
Cyp2d9	G	A	15: 82,338,719 (GRCm39)		probably null	Het
Ddx42	T	A	11: 106,136,155 (GRCm39)	N635K	probably damaging	Het
Dmtf1	T	C	5: 9,179,323 (GRCm39)	T292A	possibly damaging	Het
Dnajb8	T	C	6: 88,199,857 (GRCm39)	V131A	probably benign	Het
Dock6	T	C	9: 21,727,629 (GRCm39)	E1367G	possibly damaging	Het
Dvl1	T	A	4: 155,940,000 (GRCm39)	Y377*	probably null	Het
Eif4g3	T	A	4: 137,824,629 (GRCm39)	F278Y	probably benign	Het
Fancg	A	T	4: 43,008,787 (GRCm39)	L150H	probably damaging	Het
Fastkd5	T	C	2: 130,458,114 (GRCm39)	T159A	possibly damaging	Het
Fkrp	G	T	7: 16,544,877 (GRCm39)	Y328*	probably null	Het
Fmo3	A	T	1: 162,785,874 (GRCm39)	V372D	probably damaging	Het
Gsta5	T	G	9: 78,211,721 (GRCm39)	L161R	probably damaging	Het
Gtf2h4	C	A	17: 35,981,801 (GRCm39)	G143W	probably damaging	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Hmcn1	A	T	1: 150,649,571 (GRCm39)	Y638*	probably null	Het
Ighv11-2	T	A	12: 114,011,912 (GRCm39)	Q101L	probably damaging	Het
Lgalsl2	A	T	7: 5,362,833 (GRCm39)	I155F	probably damaging	Het
Lipf	G	T	19: 33,942,925 (GRCm39)	V78L	probably damaging	Het
Magi3	T	C	3: 103,923,081 (GRCm39)	E1212G	probably benign	Het
Mfap5	T	C	6: 122,502,948 (GRCm39)	S75P	probably damaging	Het
Mn1	C	A	5: 111,566,418 (GRCm39)	H129Q	possibly damaging	Het
Morc3	A	G	16: 93,659,427 (GRCm39)		probably null	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Myo5c	A	G	9: 75,157,718 (GRCm39)	I224V	probably damaging	Het
Nup58	T	C	14: 60,460,808 (GRCm39)	T486A	probably benign	Het
Or5m13b	A	G	2: 85,753,951 (GRCm39)	Y113C	probably damaging	Het
Or8b46	T	A	9: 38,450,281 (GRCm39)	V30D	probably damaging	Het
Parp14	A	T	16: 35,678,573 (GRCm39)	L465Q	possibly damaging	Het
Pcare	C	T	17: 72,058,642 (GRCm39)	S345N	probably damaging	Het
Plcd3	A	T	11: 102,971,226 (GRCm39)	I110N	possibly damaging	Het
Prx	A	G	7: 27,217,668 (GRCm39)	E862G	probably benign	Het
Rad50	G	A	11: 53,598,012 (GRCm39)		probably benign	Het
Rbm15	A	G	3: 107,238,149 (GRCm39)	S750P	probably benign	Het
Reln	C	A	5: 22,549,367 (GRCm39)	A14S	unknown	Het
Rph3a	T	C	5: 121,092,485 (GRCm39)	Y372C	probably damaging	Het
Serpine2	T	A	1: 79,777,256 (GRCm39)	H187L	possibly damaging	Het
Slc11a2	T	C	15: 100,299,204 (GRCm39)	D122G	probably damaging	Het
Slc25a32	A	T	15: 38,959,450 (GRCm39)	V289E	probably damaging	Het
Slc25a46	A	T	18: 31,735,814 (GRCm39)	S142T	probably benign	Het
Srm	A	G	4: 148,675,961 (GRCm39)		probably null	Het
Srsf5	A	G	12: 80,995,870 (GRCm39)	D123G	probably damaging	Het
Stab2	A	C	10: 86,770,704 (GRCm39)		probably benign	Het
Suds3	T	C	5: 117,233,018 (GRCm39)	N282S	probably damaging	Het
Taar9	A	T	10: 23,985,152 (GRCm39)	V94E	probably damaging	Het
Taf2	C	A	15: 54,915,643 (GRCm39)	A428S	probably benign	Het
Tbk1	G	T	10: 121,393,164 (GRCm39)	T462K	probably benign	Het
Tcaf2	T	G	6: 42,606,365 (GRCm39)	I530L	possibly damaging	Het
Tigd4	A	G	3: 84,501,221 (GRCm39)	Y46C	probably damaging	Het
Topors	G	T	4: 40,261,714 (GRCm39)	Y523*	probably null	Het
Tpte	T	C	8: 22,823,176 (GRCm39)		probably benign	Het
Trpv5	T	A	6: 41,651,284 (GRCm39)	Q254L	probably damaging	Het
Trpv6	G	A	6: 41,601,550 (GRCm39)	Q457*	probably null	Het
Ush2a	A	T	1: 187,999,304 (GRCm39)	M205L	probably benign	Het
Vmn1r90	A	T	7: 14,295,643 (GRCm39)	Y152N	probably damaging	Het
Vmn2r124	T	A	17: 18,294,280 (GRCm39)	V789D	probably damaging	Het
Vmn2r99	T	C	17: 19,598,970 (GRCm39)	I218T	probably damaging	Het
Vstm2b	T	C	7: 40,552,299 (GRCm39)	V248A	probably benign	Het
Wnk2	T	C	13: 49,224,505 (GRCm39)	K1019E	probably damaging	Het
Zfhx4	C	T	3: 5,468,418 (GRCm39)	P2859S	probably benign	Het
Zfp229	T	A	17: 21,964,568 (GRCm39)	F266Y	possibly damaging	Het
Zfp616	T	A	11: 73,975,094 (GRCm39)	C454*	probably null	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
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'- TTTGCAGGAGAAGCCATTACC -3'
(R):5'- TGGTTACTATCAAGCCCCGC -3'

Sequencing Primer
(F):5'- TTACCTTCAAAACCATCATGGCAG -3'
(R):5'- ATCAAGCCCCGCTTCCTG -3'

Posted On

2014-12-04