Phenotypic Mutation 'grey_wolf' (pdf version)
Allele | grey_wolf |
Mutation Type |
|
Chromosome | 13 |
Coordinate | |
Base Change | |
Gene |
Lyst
|
Gene Name | lysosomal trafficking regulator |
Synonym(s) | D13Sfk13 |
Chromosomal Location |
13,764,982-13,953,388 bp (+) (GRCm39)
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that regulates intracellular protein trafficking in endosomes, and may be involved in pigmentation. Mutations in this gene are associated with Chediak-Higashi syndrome, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants, though the full-length nature of some of these variants has not been determined. [provided by RefSeq, Apr 2013] PHENOTYPE: Homozygous mice have a phenotype similar to human Chediak-Higashi syndrome patients, exhibiting lysosomal dysfunction with resultant protein storage; diluted coat color; abnormal melanogenesis; immune cell dysfunction resulting in increased susceptibility to bacterial, viral, and parasitic infections and decreased cytotoxic activity against tumor cells. [provided by MGI curators]
|
Accession Number | NCBI RefSeq: NM_010748; MGI: 107448 |
Mapped | Yes |
Amino Acid Change |
|
Institutional Source | Beutler Lab |
Ref Sequences |
Ensembl: ENSMUSP00000106188
( fasta)
|
Gene Model |
not available |
AlphaFold |
no structure available at present |
SMART Domains |
|
Meta Mutation Damage Score |
Not available |
Is this an essential gene? |
Possibly nonessential (E-score: 0.395) |
Phenotypic Category |
Autosomal Recessive |
Candidate Explorer Status |
loading ... |
Single pedigree Linkage Analysis Data
|
|
Penetrance | 100% |
Alleles Listed at MGI | All alleles(45) : Gene trapped(30) Spontaneous(8) Chemically induced(6) Radiation induced(1) |
Lab Alleles |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00156:Lyst
|
APN |
13 |
13823463 |
missense |
probably benign |
|
IGL00474:Lyst
|
APN |
13 |
13818121 |
missense |
possibly damaging |
0.48 |
IGL00484:Lyst
|
APN |
13 |
13884188 |
missense |
probably benign |
0.02 |
IGL00492:Lyst
|
APN |
13 |
13852760 |
missense |
possibly damaging |
0.54 |
IGL00807:Lyst
|
APN |
13 |
13825008 |
missense |
possibly damaging |
0.91 |
IGL00949:Lyst
|
APN |
13 |
13810070 |
missense |
possibly damaging |
0.87 |
IGL00952:Lyst
|
APN |
13 |
13852692 |
missense |
probably benign |
0.05 |
IGL01305:Lyst
|
APN |
13 |
13852641 |
missense |
probably benign |
0.01 |
IGL01317:Lyst
|
APN |
13 |
13845455 |
missense |
probably benign |
|
IGL01419:Lyst
|
APN |
13 |
13810423 |
missense |
probably benign |
0.00 |
IGL01445:Lyst
|
APN |
13 |
13826299 |
missense |
probably benign |
0.00 |
IGL01690:Lyst
|
APN |
13 |
13917831 |
missense |
probably damaging |
1.00 |
IGL01791:Lyst
|
APN |
13 |
13809887 |
missense |
probably damaging |
1.00 |
IGL01809:Lyst
|
APN |
13 |
13812388 |
missense |
probably damaging |
1.00 |
IGL01896:Lyst
|
APN |
13 |
13810162 |
missense |
probably benign |
0.04 |
IGL01938:Lyst
|
APN |
13 |
13812009 |
missense |
possibly damaging |
0.93 |
IGL01986:Lyst
|
APN |
13 |
13950212 |
critical splice donor site |
probably null |
|
IGL02022:Lyst
|
APN |
13 |
13838629 |
nonsense |
probably null |
|
IGL02044:Lyst
|
APN |
13 |
13887431 |
missense |
probably damaging |
1.00 |
IGL02157:Lyst
|
APN |
13 |
13835541 |
missense |
probably benign |
|
IGL02185:Lyst
|
APN |
13 |
13835678 |
nonsense |
probably null |
|
IGL02215:Lyst
|
APN |
13 |
13835541 |
missense |
probably benign |
|
IGL02245:Lyst
|
APN |
13 |
13835541 |
missense |
probably benign |
|
IGL02246:Lyst
|
APN |
13 |
13835541 |
missense |
probably benign |
|
IGL02247:Lyst
|
APN |
13 |
13835541 |
missense |
probably benign |
|
IGL02297:Lyst
|
APN |
13 |
13812677 |
nonsense |
probably null |
|
IGL02411:Lyst
|
APN |
13 |
13835541 |
missense |
probably benign |
|
IGL02415:Lyst
|
APN |
13 |
13835541 |
missense |
probably benign |
|
IGL02419:Lyst
|
APN |
13 |
13835541 |
missense |
probably benign |
|
IGL02420:Lyst
|
APN |
13 |
13835541 |
missense |
probably benign |
|
IGL02429:Lyst
|
APN |
13 |
13835541 |
missense |
probably benign |
|
IGL02501:Lyst
|
APN |
13 |
13886230 |
missense |
probably benign |
0.02 |
IGL02522:Lyst
|
APN |
13 |
13809290 |
missense |
possibly damaging |
0.81 |
IGL02535:Lyst
|
APN |
13 |
13824927 |
missense |
probably benign |
0.00 |
IGL02596:Lyst
|
APN |
13 |
13835541 |
missense |
probably benign |
|
IGL02601:Lyst
|
APN |
13 |
13835541 |
missense |
probably benign |
|
IGL02603:Lyst
|
APN |
13 |
13835541 |
missense |
probably benign |
|
IGL02608:Lyst
|
APN |
13 |
13887339 |
missense |
probably damaging |
0.98 |
IGL02622:Lyst
|
APN |
13 |
13855975 |
missense |
probably damaging |
1.00 |
IGL02690:Lyst
|
APN |
13 |
13815710 |
missense |
possibly damaging |
0.58 |
IGL02715:Lyst
|
APN |
13 |
13848905 |
splice site |
probably null |
|
IGL02725:Lyst
|
APN |
13 |
13935412 |
missense |
probably damaging |
1.00 |
IGL02729:Lyst
|
APN |
13 |
13921194 |
missense |
possibly damaging |
0.95 |
IGL02729:Lyst
|
APN |
13 |
13848924 |
missense |
possibly damaging |
0.81 |
IGL02820:Lyst
|
APN |
13 |
13812643 |
missense |
probably benign |
0.03 |
IGL02945:Lyst
|
APN |
13 |
13935783 |
missense |
possibly damaging |
0.48 |
IGL02981:Lyst
|
APN |
13 |
13809496 |
missense |
probably damaging |
0.99 |
IGL03087:Lyst
|
APN |
13 |
13809641 |
missense |
probably damaging |
1.00 |
IGL03149:Lyst
|
APN |
13 |
13856029 |
missense |
probably benign |
0.14 |
IGL03158:Lyst
|
APN |
13 |
13826337 |
critical splice donor site |
probably null |
|
IGL03226:Lyst
|
APN |
13 |
13884144 |
missense |
probably benign |
0.01 |
IGL03242:Lyst
|
APN |
13 |
13831466 |
nonsense |
probably null |
|
IGL03385:Lyst
|
APN |
13 |
13831565 |
nonsense |
probably null |
|
50-cal
|
UTSW |
13 |
13882797 |
critical splice donor site |
probably null |
|
charcoal
|
UTSW |
13 |
13871346 |
nonsense |
probably null |
|
charlotte_gray
|
UTSW |
13 |
13602026 |
intron |
probably benign |
|
charzard
|
UTSW |
13 |
13821668 |
nonsense |
probably null |
|
lightspeed
|
UTSW |
13 |
13915121 |
missense |
possibly damaging |
0.91 |
pardon
|
UTSW |
13 |
13852537 |
missense |
probably benign |
0.00 |
robin
|
UTSW |
13 |
13823387 |
nonsense |
probably null |
|
sooty
|
UTSW |
13 |
|
unclassified |
|
|
souris
|
UTSW |
13 |
13857808 |
unclassified |
probably benign |
|
Swallow
|
UTSW |
13 |
13932007 |
missense |
probably benign |
0.00 |
vulpix
|
UTSW |
13 |
13871379 |
splice site |
probably null |
|
ANU22:Lyst
|
UTSW |
13 |
13852641 |
missense |
probably benign |
0.01 |
IGL02835:Lyst
|
UTSW |
13 |
13835685 |
missense |
possibly damaging |
0.82 |
P0031:Lyst
|
UTSW |
13 |
13838616 |
missense |
probably damaging |
1.00 |
R0012:Lyst
|
UTSW |
13 |
13862279 |
missense |
probably benign |
0.10 |
R0012:Lyst
|
UTSW |
13 |
13862279 |
missense |
probably benign |
0.10 |
R0031:Lyst
|
UTSW |
13 |
13882741 |
missense |
probably benign |
0.14 |
R0115:Lyst
|
UTSW |
13 |
13852537 |
missense |
probably benign |
0.00 |
R0212:Lyst
|
UTSW |
13 |
13810570 |
missense |
possibly damaging |
0.93 |
R0386:Lyst
|
UTSW |
13 |
13882799 |
splice site |
probably benign |
|
R0393:Lyst
|
UTSW |
13 |
13821664 |
missense |
probably benign |
0.01 |
R0415:Lyst
|
UTSW |
13 |
13886195 |
splice site |
probably benign |
|
R0446:Lyst
|
UTSW |
13 |
13812633 |
missense |
probably benign |
0.00 |
R0481:Lyst
|
UTSW |
13 |
13852537 |
missense |
probably benign |
0.00 |
R0499:Lyst
|
UTSW |
13 |
13791298 |
missense |
probably damaging |
1.00 |
R0506:Lyst
|
UTSW |
13 |
13812600 |
missense |
probably benign |
|
R0530:Lyst
|
UTSW |
13 |
13931891 |
splice site |
probably benign |
|
R0541:Lyst
|
UTSW |
13 |
13855878 |
missense |
probably benign |
0.00 |
R0570:Lyst
|
UTSW |
13 |
13883971 |
missense |
probably benign |
0.26 |
R0680:Lyst
|
UTSW |
13 |
13824926 |
missense |
probably benign |
0.01 |
R0842:Lyst
|
UTSW |
13 |
13852826 |
nonsense |
probably null |
|
R0848:Lyst
|
UTSW |
13 |
13809515 |
missense |
probably benign |
0.00 |
R1014:Lyst
|
UTSW |
13 |
13808645 |
missense |
possibly damaging |
0.49 |
R1205:Lyst
|
UTSW |
13 |
13854787 |
missense |
probably benign |
|
R1251:Lyst
|
UTSW |
13 |
13809068 |
missense |
probably benign |
0.00 |
R1304:Lyst
|
UTSW |
13 |
13926569 |
nonsense |
probably null |
|
R1398:Lyst
|
UTSW |
13 |
13915121 |
missense |
possibly damaging |
0.91 |
R1445:Lyst
|
UTSW |
13 |
13814639 |
missense |
possibly damaging |
0.94 |
R1475:Lyst
|
UTSW |
13 |
13882797 |
critical splice donor site |
probably null |
|
R1479:Lyst
|
UTSW |
13 |
13809067 |
missense |
probably benign |
0.00 |
R1484:Lyst
|
UTSW |
13 |
13852775 |
missense |
probably benign |
0.01 |
R1498:Lyst
|
UTSW |
13 |
13824960 |
missense |
possibly damaging |
0.49 |
R1540:Lyst
|
UTSW |
13 |
13809686 |
missense |
possibly damaging |
0.81 |
R1611:Lyst
|
UTSW |
13 |
13809482 |
missense |
probably damaging |
0.97 |
R1653:Lyst
|
UTSW |
13 |
13809811 |
missense |
probably damaging |
1.00 |
R1669:Lyst
|
UTSW |
13 |
13818672 |
missense |
possibly damaging |
0.90 |
R1686:Lyst
|
UTSW |
13 |
13809290 |
missense |
possibly damaging |
0.81 |
R1694:Lyst
|
UTSW |
13 |
13835746 |
missense |
probably damaging |
0.98 |
R1747:Lyst
|
UTSW |
13 |
13932007 |
missense |
probably benign |
0.00 |
R1793:Lyst
|
UTSW |
13 |
13821668 |
nonsense |
probably null |
|
R1871:Lyst
|
UTSW |
13 |
13826297 |
missense |
probably benign |
0.00 |
R1905:Lyst
|
UTSW |
13 |
13808719 |
missense |
probably benign |
|
R1958:Lyst
|
UTSW |
13 |
13791203 |
missense |
probably damaging |
1.00 |
R1969:Lyst
|
UTSW |
13 |
13904929 |
missense |
probably damaging |
0.99 |
R2040:Lyst
|
UTSW |
13 |
13815807 |
missense |
probably benign |
0.00 |
R2109:Lyst
|
UTSW |
13 |
13887405 |
missense |
possibly damaging |
0.46 |
R2116:Lyst
|
UTSW |
13 |
13810286 |
missense |
probably damaging |
0.99 |
R2121:Lyst
|
UTSW |
13 |
13835556 |
missense |
probably damaging |
1.00 |
R2127:Lyst
|
UTSW |
13 |
13809847 |
missense |
probably damaging |
1.00 |
R2187:Lyst
|
UTSW |
13 |
13883926 |
missense |
possibly damaging |
0.61 |
R2238:Lyst
|
UTSW |
13 |
13917848 |
missense |
probably benign |
0.41 |
R2258:Lyst
|
UTSW |
13 |
13812243 |
missense |
probably benign |
0.00 |
R2292:Lyst
|
UTSW |
13 |
13915080 |
missense |
probably damaging |
1.00 |
R2368:Lyst
|
UTSW |
13 |
13871248 |
missense |
probably damaging |
0.96 |
R2908:Lyst
|
UTSW |
13 |
13844458 |
missense |
probably benign |
0.03 |
R3001:Lyst
|
UTSW |
13 |
13871290 |
missense |
probably benign |
|
R3002:Lyst
|
UTSW |
13 |
13871290 |
missense |
probably benign |
|
R3024:Lyst
|
UTSW |
13 |
13833272 |
missense |
probably benign |
|
R3113:Lyst
|
UTSW |
13 |
13844512 |
missense |
probably benign |
0.12 |
R3406:Lyst
|
UTSW |
13 |
13809815 |
missense |
possibly damaging |
0.56 |
R3972:Lyst
|
UTSW |
13 |
13881210 |
missense |
possibly damaging |
0.67 |
R3978:Lyst
|
UTSW |
13 |
13808753 |
missense |
possibly damaging |
0.82 |
R4032:Lyst
|
UTSW |
13 |
13791250 |
missense |
probably damaging |
1.00 |
R4192:Lyst
|
UTSW |
13 |
13915098 |
missense |
probably damaging |
1.00 |
R4206:Lyst
|
UTSW |
13 |
13810574 |
missense |
probably benign |
0.03 |
R4298:Lyst
|
UTSW |
13 |
13809472 |
missense |
probably damaging |
1.00 |
R4344:Lyst
|
UTSW |
13 |
13873051 |
missense |
probably benign |
0.06 |
R4441:Lyst
|
UTSW |
13 |
13809968 |
missense |
probably damaging |
1.00 |
R4445:Lyst
|
UTSW |
13 |
13884149 |
missense |
probably benign |
0.42 |
R4477:Lyst
|
UTSW |
13 |
13809968 |
missense |
probably damaging |
1.00 |
R4493:Lyst
|
UTSW |
13 |
13809968 |
missense |
probably damaging |
1.00 |
R4494:Lyst
|
UTSW |
13 |
13809968 |
missense |
probably damaging |
1.00 |
R4495:Lyst
|
UTSW |
13 |
13809968 |
missense |
probably damaging |
1.00 |
R4622:Lyst
|
UTSW |
13 |
13848983 |
missense |
probably benign |
0.01 |
R4638:Lyst
|
UTSW |
13 |
13871379 |
splice site |
probably null |
|
R4658:Lyst
|
UTSW |
13 |
13809968 |
missense |
probably damaging |
1.00 |
R4675:Lyst
|
UTSW |
13 |
13809968 |
missense |
probably damaging |
1.00 |
R4719:Lyst
|
UTSW |
13 |
13824935 |
missense |
probably benign |
|
R4729:Lyst
|
UTSW |
13 |
13812486 |
missense |
probably damaging |
1.00 |
R4774:Lyst
|
UTSW |
13 |
13915182 |
missense |
probably damaging |
1.00 |
R4811:Lyst
|
UTSW |
13 |
13951685 |
missense |
probably benign |
0.33 |
R4877:Lyst
|
UTSW |
13 |
13857734 |
missense |
probably damaging |
1.00 |
R4920:Lyst
|
UTSW |
13 |
13821645 |
missense |
possibly damaging |
0.79 |
R4933:Lyst
|
UTSW |
13 |
13933963 |
missense |
probably benign |
0.12 |
R4933:Lyst
|
UTSW |
13 |
13812349 |
missense |
probably damaging |
0.98 |
R4958:Lyst
|
UTSW |
13 |
13810048 |
missense |
probably benign |
0.00 |
R4982:Lyst
|
UTSW |
13 |
13900539 |
missense |
probably damaging |
1.00 |
R4992:Lyst
|
UTSW |
13 |
13835748 |
missense |
probably damaging |
1.00 |
R5024:Lyst
|
UTSW |
13 |
13808989 |
missense |
probably benign |
|
R5049:Lyst
|
UTSW |
13 |
13810649 |
missense |
probably damaging |
1.00 |
R5079:Lyst
|
UTSW |
13 |
13931938 |
missense |
probably benign |
0.08 |
R5254:Lyst
|
UTSW |
13 |
13857655 |
missense |
probably benign |
0.00 |
R5266:Lyst
|
UTSW |
13 |
13835555 |
missense |
probably damaging |
1.00 |
R5279:Lyst
|
UTSW |
13 |
13823387 |
nonsense |
probably null |
|
R5285:Lyst
|
UTSW |
13 |
13809011 |
missense |
probably benign |
0.01 |
R5364:Lyst
|
UTSW |
13 |
13831439 |
missense |
probably benign |
0.35 |
R5435:Lyst
|
UTSW |
13 |
13951649 |
missense |
possibly damaging |
0.64 |
R5516:Lyst
|
UTSW |
13 |
13818707 |
missense |
probably benign |
0.10 |
R5524:Lyst
|
UTSW |
13 |
13921364 |
missense |
probably benign |
0.03 |
R5591:Lyst
|
UTSW |
13 |
13917918 |
missense |
probably damaging |
0.99 |
R5592:Lyst
|
UTSW |
13 |
13917918 |
missense |
probably damaging |
0.99 |
R5593:Lyst
|
UTSW |
13 |
13917918 |
missense |
probably damaging |
0.99 |
R5594:Lyst
|
UTSW |
13 |
13917918 |
missense |
probably damaging |
0.99 |
R5594:Lyst
|
UTSW |
13 |
13933982 |
missense |
probably benign |
0.00 |
R5644:Lyst
|
UTSW |
13 |
13812081 |
missense |
possibly damaging |
0.58 |
R5659:Lyst
|
UTSW |
13 |
13809212 |
missense |
possibly damaging |
0.58 |
R5741:Lyst
|
UTSW |
13 |
13808615 |
missense |
probably benign |
0.44 |
R5908:Lyst
|
UTSW |
13 |
13871346 |
nonsense |
probably null |
|
R5969:Lyst
|
UTSW |
13 |
13862398 |
splice site |
probably null |
|
R6128:Lyst
|
UTSW |
13 |
13933964 |
missense |
possibly damaging |
0.67 |
R6271:Lyst
|
UTSW |
13 |
13833339 |
missense |
probably benign |
0.30 |
R6315:Lyst
|
UTSW |
13 |
13818089 |
missense |
probably benign |
|
R6318:Lyst
|
UTSW |
13 |
13917896 |
missense |
possibly damaging |
0.88 |
R6555:Lyst
|
UTSW |
13 |
13823510 |
missense |
probably benign |
0.01 |
R6663:Lyst
|
UTSW |
13 |
13838701 |
splice site |
probably null |
|
R6701:Lyst
|
UTSW |
13 |
13856070 |
missense |
probably benign |
0.06 |
R6711:Lyst
|
UTSW |
13 |
13809820 |
missense |
possibly damaging |
0.80 |
R6909:Lyst
|
UTSW |
13 |
13917960 |
missense |
probably damaging |
1.00 |
R6915:Lyst
|
UTSW |
13 |
13900629 |
missense |
probably benign |
0.01 |
R6929:Lyst
|
UTSW |
13 |
13917909 |
missense |
probably damaging |
1.00 |
R6960:Lyst
|
UTSW |
13 |
13808663 |
missense |
probably benign |
0.12 |
R7018:Lyst
|
UTSW |
13 |
13918044 |
critical splice donor site |
probably null |
|
R7037:Lyst
|
UTSW |
13 |
13791251 |
missense |
probably damaging |
1.00 |
R7045:Lyst
|
UTSW |
13 |
13812293 |
missense |
probably damaging |
1.00 |
R7045:Lyst
|
UTSW |
13 |
13809485 |
missense |
probably benign |
0.34 |
R7070:Lyst
|
UTSW |
13 |
13932029 |
missense |
probably benign |
0.23 |
R7188:Lyst
|
UTSW |
13 |
13926675 |
missense |
possibly damaging |
0.66 |
R7201:Lyst
|
UTSW |
13 |
13883885 |
nonsense |
probably null |
|
R7210:Lyst
|
UTSW |
13 |
13831568 |
missense |
probably damaging |
1.00 |
R7229:Lyst
|
UTSW |
13 |
13818094 |
missense |
probably benign |
0.00 |
R7293:Lyst
|
UTSW |
13 |
13854822 |
missense |
probably benign |
0.01 |
R7318:Lyst
|
UTSW |
13 |
13932028 |
missense |
probably benign |
0.13 |
R7344:Lyst
|
UTSW |
13 |
13881140 |
missense |
probably benign |
|
R7426:Lyst
|
UTSW |
13 |
13812109 |
missense |
probably benign |
|
R7522:Lyst
|
UTSW |
13 |
13821668 |
nonsense |
probably null |
|
R7583:Lyst
|
UTSW |
13 |
13810472 |
missense |
probably damaging |
1.00 |
R7606:Lyst
|
UTSW |
13 |
13812060 |
missense |
probably damaging |
1.00 |
R7636:Lyst
|
UTSW |
13 |
13791332 |
critical splice donor site |
probably null |
|
R7658:Lyst
|
UTSW |
13 |
13905061 |
missense |
possibly damaging |
0.63 |
R7685:Lyst
|
UTSW |
13 |
13844450 |
missense |
probably benign |
0.00 |
R7689:Lyst
|
UTSW |
13 |
13857808 |
critical splice donor site |
probably null |
|
R7765:Lyst
|
UTSW |
13 |
13884117 |
missense |
possibly damaging |
0.75 |
R7779:Lyst
|
UTSW |
13 |
13809128 |
missense |
probably damaging |
1.00 |
R7871:Lyst
|
UTSW |
13 |
13810637 |
nonsense |
probably null |
|
R7872:Lyst
|
UTSW |
13 |
13810450 |
missense |
probably benign |
0.14 |
R7884:Lyst
|
UTSW |
13 |
13882268 |
missense |
probably benign |
0.09 |
R7890:Lyst
|
UTSW |
13 |
13915154 |
missense |
probably damaging |
0.99 |
R7916:Lyst
|
UTSW |
13 |
13821657 |
missense |
possibly damaging |
0.64 |
R7948:Lyst
|
UTSW |
13 |
13921174 |
missense |
possibly damaging |
0.59 |
R7956:Lyst
|
UTSW |
13 |
13815788 |
missense |
possibly damaging |
0.80 |
R8048:Lyst
|
UTSW |
13 |
13862230 |
missense |
probably benign |
0.12 |
R8085:Lyst
|
UTSW |
13 |
13808894 |
missense |
probably damaging |
0.98 |
R8165:Lyst
|
UTSW |
13 |
13872945 |
missense |
probably damaging |
0.99 |
R8235:Lyst
|
UTSW |
13 |
13935323 |
missense |
possibly damaging |
0.69 |
R8237:Lyst
|
UTSW |
13 |
13826317 |
missense |
probably benign |
0.00 |
R8275:Lyst
|
UTSW |
13 |
13950667 |
missense |
probably benign |
0.02 |
R8300:Lyst
|
UTSW |
13 |
13838643 |
missense |
possibly damaging |
0.79 |
R8350:Lyst
|
UTSW |
13 |
13824973 |
nonsense |
probably null |
|
R8526:Lyst
|
UTSW |
13 |
13935391 |
missense |
probably damaging |
0.99 |
R8551:Lyst
|
UTSW |
13 |
13808645 |
missense |
possibly damaging |
0.77 |
R8723:Lyst
|
UTSW |
13 |
13887342 |
missense |
possibly damaging |
0.89 |
R8772:Lyst
|
UTSW |
13 |
13812077 |
nonsense |
probably null |
|
R8778:Lyst
|
UTSW |
13 |
13903152 |
missense |
possibly damaging |
0.89 |
R8778:Lyst
|
UTSW |
13 |
13810361 |
missense |
possibly damaging |
0.89 |
R8801:Lyst
|
UTSW |
13 |
13835595 |
missense |
probably benign |
0.10 |
R8837:Lyst
|
UTSW |
13 |
13852548 |
missense |
probably benign |
|
R8874:Lyst
|
UTSW |
13 |
13812147 |
missense |
probably benign |
|
R8878:Lyst
|
UTSW |
13 |
13815661 |
missense |
probably benign |
0.00 |
R8891:Lyst
|
UTSW |
13 |
13887435 |
missense |
possibly damaging |
0.67 |
R9077:Lyst
|
UTSW |
13 |
13857693 |
missense |
probably benign |
0.02 |
R9127:Lyst
|
UTSW |
13 |
13808827 |
missense |
probably damaging |
1.00 |
R9143:Lyst
|
UTSW |
13 |
13835750 |
missense |
probably damaging |
0.98 |
R9216:Lyst
|
UTSW |
13 |
13823188 |
missense |
probably benign |
|
R9217:Lyst
|
UTSW |
13 |
13871245 |
missense |
probably benign |
0.01 |
R9291:Lyst
|
UTSW |
13 |
13883938 |
missense |
probably benign |
0.01 |
R9302:Lyst
|
UTSW |
13 |
13904947 |
missense |
possibly damaging |
0.46 |
R9370:Lyst
|
UTSW |
13 |
13935333 |
missense |
probably damaging |
1.00 |
R9402:Lyst
|
UTSW |
13 |
13812463 |
missense |
probably benign |
|
R9457:Lyst
|
UTSW |
13 |
13862330 |
missense |
possibly damaging |
0.83 |
R9481:Lyst
|
UTSW |
13 |
13857653 |
missense |
possibly damaging |
0.68 |
R9563:Lyst
|
UTSW |
13 |
13812408 |
missense |
probably benign |
0.36 |
R9623:Lyst
|
UTSW |
13 |
13852587 |
missense |
probably benign |
|
R9661:Lyst
|
UTSW |
13 |
13808779 |
missense |
probably benign |
0.01 |
R9682:Lyst
|
UTSW |
13 |
13831526 |
missense |
probably benign |
0.21 |
R9743:Lyst
|
UTSW |
13 |
13809323 |
missense |
possibly damaging |
0.67 |
R9801:Lyst
|
UTSW |
13 |
13809290 |
missense |
probably damaging |
0.97 |
RF001:Lyst
|
UTSW |
13 |
13810426 |
missense |
probably benign |
|
RF002:Lyst
|
UTSW |
13 |
13808948 |
missense |
probably benign |
0.05 |
X0024:Lyst
|
UTSW |
13 |
13809033 |
missense |
probably benign |
0.00 |
X0026:Lyst
|
UTSW |
13 |
13926555 |
missense |
probably damaging |
0.99 |
Z1088:Lyst
|
UTSW |
13 |
13918018 |
missense |
probably benign |
0.09 |
Z1176:Lyst
|
UTSW |
13 |
13951664 |
missense |
probably benign |
0.27 |
Z1176:Lyst
|
UTSW |
13 |
13814692 |
missense |
probably damaging |
1.00 |
Z1177:Lyst
|
UTSW |
13 |
13854719 |
missense |
possibly damaging |
0.73 |
|
Mode of Inheritance |
Autosomal Recessive |
Local Stock | Lost |
Repository | none |
Last Updated |
2016-05-13 3:09 PM
by Stephen Lyon
|
Record Created |
unknown
|
Record Posted |
2007-10-18 |
Phenotypic Description |
The grey wolf phenotype is characterized by a subtle grey coat color. Grey wolf mice are highly susceptible to infection by mouse cytomegalovirus (MCMV) (MCMV Susceptibility and Resistance Screen), and grey wolf NK cells fail to degranulate after antibody stimulation of NKp46 or Ly49H receptors, or after exposure to YAC-1 cells or PMA/ionomycin. |
Nature of Mutation | Grey wolf was found to be allelic with beige, in which a mutation in the Lyst gene was identified ( 1;2).
Please see the record for souris for information about Lyst. |
Illustration of Mutations in
Gene & Protein |
|
---|
Primers |
Primers cannot be located by automatic search.
|
References | 1. Barbosa, M. D., Nguyen, Q. A., Tchernev, V. T., Ashley, J. A., Detter, J. C., Blaydes, S. M., Brandt, S. J., Chotai, D., Hodgman, C., Solari, R. C., Lovett, M., and Kingsmore, S. F. (1996) Identification of the homologous beige and Chediak-Higashi syndrome genes, Nature 382, 262-265.
2. Perou, C. M., Moore, K. J., Nagle, D. L., Misumi, D. J., Woolf, E. A., McGrail, S. H., Holmgren, L., Brody, T. H., Dussault, B. J., Jr., Monroe, C. A., Duyk, G. M., Pryor, R. J., Li, L., Justice, M. J., and Kaplan, J. (1996) Identification of the murine beige gene by YAC complementation and positional cloning, Nat. Genet. 13, 303-308. |
Science Writers | Eva Marie Y. Moresco |
Authors | Celine Eidenschenk, Bruce Beutler |