Phenotypic Mutation 'jack_white' (pdf version)
Allelejack_white
Mutation Type
Chromosome15
Coordinate
Base Change
Gene Adamts20
Gene Name ADAM metallopeptidase with thrombospondin type 1 motif 20
Synonym(s) ADAMTS-20, bt
Chromosomal Location 94,166,177-94,329,966 bp (-) (GRCm39)
MGI Phenotype FUNCTION: This gene encodes a member of "a disintegrin and metalloproteinase with thrombospondin motifs" (ADAMTS) family of multi-domain matrix-associated metalloendopeptidases that have diverse roles in tissue morphogenesis and pathophysiological remodeling, in inflammation and in vascular biology. The encoded preproprotein undergoes proteolytic processing to generate an active protease. Certain mutations in this gene cause defective development of neural crest-derived melanoblasts resulting in a "belted" phenotype that is characterized by white spots in the lumbar region. [provided by RefSeq, Jul 2016]
PHENOTYPE: Mice homozygous for spontaneous or ENU-induced mutations exhibit abnormal coat/hair pigmentation, including a typical white belt phenotype. [provided by MGI curators]
Accession Number

NCBI RefSeq: NM_177431; MGI: 2660628

MappedYes 
Amino Acid Change
Institutional SourceBeutler Lab
Ref Sequences
Ensembl: ENSMUSP00000036330 (fasta)
Gene Model not available
AlphaFold P59511
SMART Domains

DomainStartEndE-ValueType
Pfam:Pep_M12B_propep 10 186 3.2e-33 PFAM
Pfam:Reprolysin 255 464 1.2e-26 PFAM
Blast:ACR 467 545 N/A BLAST
TSP1 556 608 7.73e-11 SMART
Pfam:ADAM_spacer1 718 836 6.2e-33 PFAM
TSP1 846 901 1.47e-1 SMART
TSP1 904 958 2.83e0 SMART
TSP1 965 1019 4.28e-4 SMART
TSP1 1020 1074 1.89e-5 SMART
TSP1 1075 1131 4.87e-8 SMART
TSP1 1152 1201 6.05e-4 SMART
TSP1 1204 1260 1.22e-8 SMART
TSP1 1304 1356 1.37e-2 SMART
TSP1 1357 1411 6e-8 SMART
TSP1 1416 1470 1.69e-2 SMART
TSP1 1471 1526 2.3e0 SMART
TSP1 1530 1579 1.23e0 SMART
TSP1 1653 1706 5.27e-4 SMART
Pfam:GON 1707 1906 1.1e-87 PFAM
Meta Mutation Damage Score Not available question?
Is this an essential gene? Probably nonessential (E-score: 0.207) question?
Phenotypic Category Autosomal Recessive
Candidate Explorer Status loading ...
Single pedigree
Linkage Analysis Data
Penetrance 100% 
Alleles Listed at MGI

All alleles(16) : Spontaneous(11) Chemically induced(5)

Lab Alleles
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00433:Adamts20 APN 15 94292522 missense probably benign
IGL00491:Adamts20 APN 15 94171113 missense possibly damaging 0.89
IGL00502:Adamts20 APN 15 94301278 missense probably damaging 0.99
IGL00672:Adamts20 APN 15 94238986 missense probably damaging 0.99
IGL00840:Adamts20 APN 15 94180363 missense probably damaging 1.00
IGL00909:Adamts20 APN 15 94277694 missense probably damaging 1.00
IGL01101:Adamts20 APN 15 94241923 missense probably damaging 1.00
IGL01137:Adamts20 APN 15 94292492 critical splice donor site probably null
IGL01457:Adamts20 APN 15 94229329 missense probably damaging 0.97
IGL01685:Adamts20 APN 15 94301327 missense possibly damaging 0.81
IGL01949:Adamts20 APN 15 94223987 missense probably benign 0.08
IGL02525:Adamts20 APN 15 94180959 splice site probably null
IGL03088:Adamts20 APN 15 94227795 critical splice donor site probably null
IGL03175:Adamts20 APN 15 94171136 nonsense probably null
belt UTSW 15 94243871 missense probably damaging 1.00
buckeye UTSW 15 94238968 missense probably damaging 1.00
meowth UTSW 15 94229339 missense probably damaging 1.00
nidoking UTSW 15 94301326 missense probably damaging 1.00
panda UTSW 15 94224580 intron probably benign
pikachu UTSW 15 94243871 missense probably damaging 1.00
poliwag UTSW 15 94292503 nonsense probably null
splotch2 UTSW 15 94233442 intron probably benign
wash UTSW 15 94245551 nonsense probably null
whitebelly UTSW 15 unclassified
whopper UTSW 15 94245691 missense probably damaging 1.00
R0483:Adamts20 UTSW 15 94251452 missense probably benign 0.00
R0514:Adamts20 UTSW 15 94168257 missense probably damaging 1.00
R0568:Adamts20 UTSW 15 94189594 splice site probably benign
R0730:Adamts20 UTSW 15 94245571 missense probably benign 0.00
R0973:Adamts20 UTSW 15 94184252 missense probably benign 0.00
R1339:Adamts20 UTSW 15 94220777 missense probably benign 0.19
R1721:Adamts20 UTSW 15 94236340 missense probably benign 0.44
R1809:Adamts20 UTSW 15 94238968 missense probably damaging 1.00
R1832:Adamts20 UTSW 15 94184225 missense probably benign 0.00
R1846:Adamts20 UTSW 15 94243871 missense probably damaging 1.00
R1867:Adamts20 UTSW 15 94236340 missense probably benign 0.44
R1875:Adamts20 UTSW 15 94229277 missense probably benign 0.01
R1930:Adamts20 UTSW 15 94301891 missense probably benign 0.03
R1931:Adamts20 UTSW 15 94301891 missense probably benign 0.03
R1932:Adamts20 UTSW 15 94301891 missense probably benign 0.03
R2001:Adamts20 UTSW 15 94245599 missense possibly damaging 0.96
R2116:Adamts20 UTSW 15 94253243 missense probably damaging 1.00
R2162:Adamts20 UTSW 15 94229339 missense probably damaging 1.00
R2350:Adamts20 UTSW 15 94181797 missense probably damaging 1.00
R2887:Adamts20 UTSW 15 94228459 missense probably benign 0.00
R2889:Adamts20 UTSW 15 94228459 missense probably benign 0.00
R2890:Adamts20 UTSW 15 94228459 missense probably benign 0.00
R3109:Adamts20 UTSW 15 94243785 splice site probably benign
R3719:Adamts20 UTSW 15 94259719 missense probably damaging 0.99
R3832:Adamts20 UTSW 15 94229339 missense probably damaging 1.00
R3901:Adamts20 UTSW 15 94226726 missense possibly damaging 0.81
R4398:Adamts20 UTSW 15 94231576 missense possibly damaging 0.93
R4402:Adamts20 UTSW 15 94277827 missense probably benign
R4431:Adamts20 UTSW 15 94241924 missense probably damaging 1.00
R4479:Adamts20 UTSW 15 94301326 missense probably damaging 1.00
R4482:Adamts20 UTSW 15 94243801 missense probably damaging 1.00
R4503:Adamts20 UTSW 15 94277631 missense probably damaging 0.99
R4671:Adamts20 UTSW 15 94301206 missense possibly damaging 0.48
R4700:Adamts20 UTSW 15 94292503 nonsense probably null
R4707:Adamts20 UTSW 15 94231528 missense possibly damaging 0.53
R4725:Adamts20 UTSW 15 94249643 missense probably damaging 0.99
R4771:Adamts20 UTSW 15 94249516 splice site probably null
R4829:Adamts20 UTSW 15 94224277 missense probably benign 0.01
R4937:Adamts20 UTSW 15 94277656 missense probably benign
R4960:Adamts20 UTSW 15 94277655 missense probably benign
R5270:Adamts20 UTSW 15 94180400 missense probably benign 0.00
R5388:Adamts20 UTSW 15 94243659 missense possibly damaging 0.81
R5410:Adamts20 UTSW 15 94179838 missense possibly damaging 0.94
R5453:Adamts20 UTSW 15 94223969 missense possibly damaging 0.69
R5611:Adamts20 UTSW 15 94171161 missense possibly damaging 0.65
R5687:Adamts20 UTSW 15 94223852 missense probably benign 0.36
R5758:Adamts20 UTSW 15 94292531 missense probably benign 0.00
R5801:Adamts20 UTSW 15 94245551 nonsense probably null
R5834:Adamts20 UTSW 15 94251465 missense probably damaging 0.99
R5993:Adamts20 UTSW 15 94236604 missense probably damaging 0.99
R5997:Adamts20 UTSW 15 94277628 missense probably damaging 1.00
R6044:Adamts20 UTSW 15 94180364 missense probably damaging 1.00
R6058:Adamts20 UTSW 15 94227928 nonsense probably null
R6217:Adamts20 UTSW 15 94236596 missense probably benign 0.00
R6283:Adamts20 UTSW 15 94249602 missense probably benign
R6354:Adamts20 UTSW 15 94245691 missense probably damaging 1.00
R6415:Adamts20 UTSW 15 94222540 critical splice donor site probably null
R6419:Adamts20 UTSW 15 94231556 missense possibly damaging 0.84
R6476:Adamts20 UTSW 15 94259691 missense probably benign 0.22
R6485:Adamts20 UTSW 15 94241852 missense probably benign 0.17
R6517:Adamts20 UTSW 15 94180985 splice site probably null
R6675:Adamts20 UTSW 15 94229197 critical splice donor site probably null
R6863:Adamts20 UTSW 15 94277627 nonsense probably null
R7186:Adamts20 UTSW 15 94220689 missense possibly damaging 0.76
R7263:Adamts20 UTSW 15 94220772 missense possibly damaging 0.52
R7441:Adamts20 UTSW 15 94251554 missense probably damaging 1.00
R7519:Adamts20 UTSW 15 94223869 missense possibly damaging 0.64
R7747:Adamts20 UTSW 15 94189468 nonsense probably null
R7770:Adamts20 UTSW 15 94231579 missense probably benign 0.02
R7816:Adamts20 UTSW 15 94220725 missense probably benign 0.00
R7827:Adamts20 UTSW 15 94223814 missense probably damaging 1.00
R7853:Adamts20 UTSW 15 94243871 missense probably damaging 1.00
R7894:Adamts20 UTSW 15 94249641 missense probably damaging 1.00
R7951:Adamts20 UTSW 15 94238947 missense probably damaging 1.00
R8233:Adamts20 UTSW 15 94189533 missense probably benign 0.19
R8458:Adamts20 UTSW 15 94251521 missense probably benign 0.02
R8709:Adamts20 UTSW 15 94238947 missense probably damaging 1.00
R8719:Adamts20 UTSW 15 94241903 missense probably damaging 0.99
R8728:Adamts20 UTSW 15 94229281 missense probably benign 0.00
R8787:Adamts20 UTSW 15 94184294 missense possibly damaging 0.83
R8801:Adamts20 UTSW 15 94258490 missense probably damaging 1.00
R9055:Adamts20 UTSW 15 94181867 missense probably damaging 0.98
R9069:Adamts20 UTSW 15 94236349 missense probably benign 0.00
R9297:Adamts20 UTSW 15 94301321 missense possibly damaging 0.88
R9318:Adamts20 UTSW 15 94301321 missense possibly damaging 0.88
R9362:Adamts20 UTSW 15 94236626 missense possibly damaging 0.86
R9658:Adamts20 UTSW 15 94249626 missense probably damaging 1.00
R9747:Adamts20 UTSW 15 94180943 missense probably damaging 1.00
R9769:Adamts20 UTSW 15 94251459 missense probably damaging 1.00
R9795:Adamts20 UTSW 15 94301180 missense possibly damaging 0.78
Mode of Inheritance Autosomal Recessive
Local Stock Sperm, gDNA
Repository

none

Last Updated 2021-10-19 1:32 PM by Diantha La Vine
Record Created unknown
Record Posted 2009-07-31
Phenotypic Description

Jack white animals exhibit a classical belted phenotype.
Nature of Mutation
The jack white mutation was mapped to Chromosome 15 and linked to D15Mit242, which lies close to the candidate gene Adamts20. Adamts20 was sequenced but no mutation found after 99% coverage.  However, the jack white allele failed to complement the Adamts20 mutant allele splotch2, demonstrating that jack white and splotch2 mice harbor mutations in the same gene.
 
Please see the record for splotch2 for more information about Adamts20.
Illustration of Mutations in
Gene & Protein
Primers Primers cannot be located by automatic search.
Science Writers Eva Marie Y. Moresco
Illustrators Diantha La Vine
AuthorsOwen M. Siggs, Bruce Beutler
Edit History
2011-08-03 4:28 PM (current)
2011-01-07 9:13 AM
2010-11-02 1:28 PM
2010-11-02 1:28 PM
2010-02-03 4:28 PM