Mutagenetix > Incidental Mutation

Incidental Mutation 'R5996:Stab1'

481150

Institutional Source

Beutler Lab

Gene Symbol

Stab1

Ensembl Gene

ENSMUSG00000042286

Gene Name

stabilin 1

Synonyms

MS-1

MMRRC Submission

044175-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5996 (G1)

Quality Score

173.009

Status

Validated

Chromosome

Chromosomal Location

30860970-30890598 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 30861508 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 2500 (R2500S)

Ref Sequence

ENSEMBL: ENSMUSP00000046199 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000036618
AA Change: R2500S

PolyPhen 2 Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000046199
Gene: ENSMUSG00000042286
AA Change: R2500S

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 benign
Transcript: ENSMUST00000160024

SMART Domains

Protein: ENSMUSP00000125239
Gene: ENSMUSG00000042286

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160720

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161631

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162763

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162169

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161129

Predicted Effect

probably benign
Transcript: ENSMUST00000227794

Predicted Effect

probably benign
Transcript: ENSMUST00000226975

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227690

Predicted Effect

probably benign
Transcript: ENSMUST00000227096

Predicted Effect

probably benign
Transcript: ENSMUST00000226588

Meta Mutation Damage Score

0.0885

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.4%

Validation Efficiency

97% (69/71)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700093K21Rik	A	G	11: 23,468,928 (GRCm39)	M1T	probably null	Het
A2m	T	A	6: 121,636,353 (GRCm39)	W741R	probably damaging	Het
Abcb8	C	T	5: 24,605,137 (GRCm39)	R108C	possibly damaging	Het
Acan	A	G	7: 78,761,068 (GRCm39)	T1927A	probably damaging	Het
Agbl4	A	G	4: 110,812,869 (GRCm39)		probably null	Het
Bltp1	T	C	3: 36,985,265 (GRCm39)	F865S	probably benign	Het
Ccr8	T	A	9: 119,923,529 (GRCm39)	C215S	probably damaging	Het
Cd209b	T	C	8: 3,968,688 (GRCm39)	T314A	probably benign	Het
Cd244a	T	G	1: 171,409,208 (GRCm39)		probably null	Het
Cdh23	T	C	10: 60,249,356 (GRCm39)	E849G	possibly damaging	Het
Cep57	A	G	9: 13,721,175 (GRCm39)	V268A	probably damaging	Het
Clip4	T	C	17: 72,163,305 (GRCm39)	S626P	probably damaging	Het
Col19a1	C	T	1: 24,367,152 (GRCm39)	G477R	probably damaging	Het
Col4a4	T	C	1: 82,433,449 (GRCm39)	D1498G	unknown	Het
Coro6	T	C	11: 77,357,322 (GRCm39)	V177A	probably benign	Het
Crip3	T	C	17: 46,742,210 (GRCm39)	S202P	possibly damaging	Het
Cxcr2	T	C	1: 74,197,619 (GRCm39)	C38R	probably damaging	Het
Cyp4f13	C	T	17: 33,148,447 (GRCm39)	G327R	possibly damaging	Het
Dab2	C	T	15: 6,464,792 (GRCm39)	Q415*	probably null	Het
Dennd5b	A	G	6: 148,969,593 (GRCm39)	F287L	probably benign	Het
Dlg4	G	A	11: 69,908,057 (GRCm39)	R6K	probably benign	Het
Edc4	A	G	8: 106,614,033 (GRCm39)	K429E	probably damaging	Het
Fam107b	T	A	2: 3,780,667 (GRCm39)		probably null	Het
Flt4	A	T	11: 49,541,897 (GRCm39)	D1360V	probably damaging	Het
Gm1043	A	T	5: 37,317,168 (GRCm39)		probably benign	Het
Gm4894	A	T	9: 49,189,970 (GRCm39)	I82L	unknown	Het
Gm7247	C	T	14: 51,601,805 (GRCm39)	S26F	probably benign	Het
Gpr176	A	C	2: 118,114,385 (GRCm39)		probably null	Het
Gtse1	T	C	15: 85,748,381 (GRCm39)	L262P	probably benign	Het
Il4ra	T	C	7: 125,166,393 (GRCm39)	W46R	probably damaging	Het
Itga11	A	G	9: 62,662,955 (GRCm39)	Y557C	probably benign	Het
Kcnab2	A	C	4: 152,519,287 (GRCm39)		probably null	Het
Kcnh7	G	A	2: 63,014,441 (GRCm39)		probably benign	Het
Ly9	T	A	1: 171,429,396 (GRCm39)	Q230L	probably damaging	Het
Map2	C	A	1: 66,454,043 (GRCm39)	H978N	possibly damaging	Het
Map2k6	A	G	11: 110,388,732 (GRCm39)	I225V	possibly damaging	Het
Map3k13	A	G	16: 21,723,995 (GRCm39)	N326D	possibly damaging	Het
Mdga2	A	G	12: 66,844,537 (GRCm39)	F85L	probably benign	Het
Mmp13	C	T	9: 7,274,269 (GRCm39)	P192L	probably damaging	Het
Mrpl37	T	C	4: 106,923,704 (GRCm39)	T97A	probably benign	Het
Mycbpap	C	T	11: 94,404,420 (GRCm39)	G121D	probably benign	Het
Nabp1	A	G	1: 51,510,544 (GRCm39)	S153P	probably benign	Het
Nsun3	A	T	16: 62,590,049 (GRCm39)	F222I	probably benign	Het
Or4q3	A	G	14: 50,582,969 (GRCm39)	V310A	possibly damaging	Het
Pcdhga4	A	T	18: 37,818,991 (GRCm39)	D180V	probably benign	Het
Pex6	C	A	17: 47,025,384 (GRCm39)		probably null	Het
Phrf1	C	A	7: 140,839,015 (GRCm39)		probably benign	Het
Ppp1r36	A	G	12: 76,485,936 (GRCm39)	T365A	possibly damaging	Het
Ranbp10	A	G	8: 106,499,672 (GRCm39)	M519T	probably benign	Het
Rfx4	G	A	10: 84,675,881 (GRCm39)	W32*	probably null	Het
Ryr1	T	C	7: 28,723,666 (GRCm39)	N4131S	probably benign	Het
Slc27a6	A	G	18: 58,745,306 (GRCm39)	E580G	possibly damaging	Het
Slc7a14	T	C	3: 31,263,385 (GRCm39)	D719G	probably benign	Het
Slfn9	A	G	11: 82,878,310 (GRCm39)	I273T	possibly damaging	Het
Spice1	A	G	16: 44,205,037 (GRCm39)	E781G	probably benign	Het
Sspo	C	T	6: 48,471,110 (GRCm39)	P4686S	possibly damaging	Het
Stox2	A	T	8: 47,656,182 (GRCm39)	M98K	possibly damaging	Het
Tacc2	T	C	7: 130,225,213 (GRCm39)	S633P	probably damaging	Het
Tex51	G	T	18: 32,595,545 (GRCm39)		probably benign	Het
Tm9sf4	T	C	2: 153,037,491 (GRCm39)		probably null	Het
Togaram2	T	A	17: 72,011,778 (GRCm39)	F486I	probably damaging	Het
Trappc12	A	G	12: 28,797,113 (GRCm39)	S140P	possibly damaging	Het
Ttc29	A	T	8: 79,003,525 (GRCm39)	N247I	probably damaging	Het
Uso1	A	T	5: 92,340,589 (GRCm39)	E668D	probably benign	Het
Vmn2r69	A	T	7: 85,061,117 (GRCm39)		probably null	Het
Xirp2	T	A	2: 67,341,994 (GRCm39)	L1412I	possibly damaging	Het
Xrcc5	T	A	1: 72,349,617 (GRCm39)	D15E	probably damaging	Het
Zfp661	T	C	2: 127,418,968 (GRCm39)	K391E	probably damaging	Het
Zfp729b	A	G	13: 67,741,977 (GRCm39)	I106T	probably benign	Het
Zfyve9	A	C	4: 108,576,557 (GRCm39)	S175A	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
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
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'- TGGGGAGAAGTCATCGTCTG -3'
(R):5'- TCATTCATGCTCTGGCCAG -3'

Sequencing Primer
(F):5'- GGAGAAGTCATCGTCTGCATTATC -3'
(R):5'- CCTCCCCAGACTGTGAGTATG -3'

Posted On

2017-06-26