Incidental Mutation 'R4671:Adamts20'
ID 348464
Institutional Source Beutler Lab
Gene Symbol Adamts20
Ensembl Gene ENSMUSG00000022449
Gene Name ADAM metallopeptidase with thrombospondin type 1 motif 20
Synonyms ADAMTS-20, bt
Accession Numbers
Essential gene? Probably non essential (E-score: 0.233) question?
Stock # R4671 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 94166177-94329966 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 94301206 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 106 (E106G)
Ref Sequence ENSEMBL: ENSMUSP00000121696 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035342] [ENSMUST00000155907]
AlphaFold P59511
Predicted Effect possibly damaging
Transcript: ENSMUST00000035342
AA Change: E106G

PolyPhen 2 Score 0.476 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000036330
Gene: ENSMUSG00000022449
AA Change: E106G

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Pep_M12B_propep 41 186 1.4e-30 PFAM
Pfam:Reprolysin_5 253 445 3.6e-13 PFAM
Pfam:Reprolysin_4 253 460 1.1e-7 PFAM
Pfam:Reprolysin 255 464 1.5e-26 PFAM
Pfam:Reprolysin_2 272 454 1.8e-10 PFAM
Pfam:Reprolysin_3 276 410 5.8e-10 PFAM
TSP1 556 608 7.73e-11 SMART
Pfam:ADAM_spacer1 718 836 2.6e-34 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 1708 1905 5.8e-80 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128797
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129195
Predicted Effect possibly damaging
Transcript: ENSMUST00000155907
AA Change: E106G

PolyPhen 2 Score 0.476 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000121696
Gene: ENSMUSG00000022449
AA Change: E106G

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Pep_M12B_propep 40 186 1e-31 PFAM
Pfam:Reprolysin_5 253 445 2.7e-13 PFAM
Pfam:Reprolysin_4 253 460 7.2e-8 PFAM
Pfam:Reprolysin 255 464 2.4e-28 PFAM
Pfam:Reprolysin_2 272 454 4e-10 PFAM
Pfam:Reprolysin_3 276 410 1.1e-10 PFAM
TSP1 556 608 7.73e-11 SMART
Pfam:ADAM_spacer1 718 836 2e-34 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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency
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]
Allele List at MGI

All alleles(17) : Targeted, other(1) Spontaneous(11) Chemically induced(5)

Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 T C 19: 43,789,157 (GRCm39) S271P probably benign Het
Acod1 T G 14: 103,284,508 (GRCm39) M2R probably benign Het
Adgra3 G A 5: 50,136,710 (GRCm39) T661M probably damaging Het
Akap13 T A 7: 75,229,312 (GRCm39) C161* probably null Het
Akr1c12 A C 13: 4,323,816 (GRCm39) S162A possibly damaging Het
Anks1 C A 17: 28,270,552 (GRCm39) H805N probably benign Het
Arhgap22 T C 14: 33,084,500 (GRCm39) C260R probably damaging Het
Banf1 T C 19: 5,415,872 (GRCm39) R33G probably benign Het
Bcas1 T C 2: 170,226,245 (GRCm39) K310R probably damaging Het
Cacna1c G T 6: 118,629,019 (GRCm39) H1240N probably damaging Het
Cartpt C T 13: 100,036,588 (GRCm39) probably null Het
Ccdc127 T A 13: 74,505,164 (GRCm39) Y237* probably null Het
Ccnb1ip1 A T 14: 51,029,734 (GRCm39) Y109* probably null Het
Cenpj A T 14: 56,790,840 (GRCm39) V403E possibly damaging Het
Cps1 A G 1: 67,235,719 (GRCm39) Y951C probably damaging Het
Dcakd T C 11: 102,890,634 (GRCm39) E51G possibly damaging Het
Dennd4a A T 9: 64,801,689 (GRCm39) N944I probably benign Het
Dus3l C T 17: 57,075,566 (GRCm39) R430C probably benign Het
Dync2h1 A G 9: 7,169,640 (GRCm39) L279P possibly damaging Het
Dzip3 G A 16: 48,799,953 (GRCm39) Q112* probably null Het
Eif1ad T A 19: 5,418,219 (GRCm39) M1K probably null Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fancg T C 4: 43,005,272 (GRCm39) E366G probably benign Het
Gin1 C T 1: 97,712,565 (GRCm39) P154S probably damaging Het
Gm11938 A T 11: 99,493,832 (GRCm39) C88S possibly damaging Het
Gpr183 T C 14: 122,192,149 (GRCm39) D124G probably damaging Het
Gucy2g T A 19: 55,226,500 (GRCm39) I139F probably damaging Het
Iqub A T 6: 24,479,183 (GRCm39) M453K probably benign Het
Jcad A G 18: 4,674,175 (GRCm39) T646A probably benign Het
Kif23 A T 9: 61,852,641 (GRCm39) D24E probably benign Het
Kmt2c T C 5: 25,571,175 (GRCm39) N845S probably damaging Het
Lhx5 G A 5: 120,578,032 (GRCm39) S284N probably benign Het
Lipf T G 19: 33,954,076 (GRCm39) V389G possibly damaging Het
Lrrc7 C T 3: 157,908,132 (GRCm39) probably null Het
Magi1 A G 6: 93,657,768 (GRCm39) probably null Het
Mast2 A G 4: 116,165,847 (GRCm39) S1287P probably damaging Het
Mepce C T 5: 137,784,905 (GRCm39) probably benign Het
Mkrn1 A G 6: 39,382,691 (GRCm39) V173A probably damaging Het
Myo1c C T 11: 75,560,856 (GRCm39) R770* probably null Het
Naip6 A G 13: 100,431,239 (GRCm39) probably null Het
Nsmce3 A T 7: 64,522,530 (GRCm39) L46Q probably benign Het
Or1n2 G A 2: 36,797,405 (GRCm39) C149Y probably benign Het
Or2j6 T G 7: 139,980,218 (GRCm39) Y247S probably damaging Het
Or4k44 A T 2: 111,368,280 (GRCm39) M118K probably damaging Het
Or51e2 A G 7: 102,391,808 (GRCm39) V134A probably damaging Het
Or56a3b T C 7: 104,771,513 (GRCm39) L283P probably damaging Het
Parp14 A G 16: 35,678,691 (GRCm39) F426L probably benign Het
Pcf11 A T 7: 92,306,737 (GRCm39) S1144T possibly damaging Het
Prpf3 T A 3: 95,758,976 (GRCm39) T59S possibly damaging Het
Ptgir A G 7: 16,640,794 (GRCm39) M29V possibly damaging Het
Ptk7 A G 17: 46,885,392 (GRCm39) V678A probably benign Het
Rb1 A G 14: 73,511,116 (GRCm39) L331S probably damaging Het
Relch A G 1: 105,646,584 (GRCm39) I637V probably benign Het
Sell A G 1: 163,893,042 (GRCm39) Y86C probably damaging Het
Serpina1e G A 12: 103,914,341 (GRCm39) R328W probably damaging Het
Sertad3 T G 7: 27,176,091 (GRCm39) L175R possibly damaging Het
Stard9 G T 2: 120,529,121 (GRCm39) G1793W probably damaging Het
Stra6 T C 9: 58,056,517 (GRCm39) I383T probably benign Het
Tcf7l1 A G 6: 72,626,161 (GRCm39) L154P probably damaging Het
Tent5c C A 3: 100,380,515 (GRCm39) L80F probably benign Het
Tonsl A T 15: 76,507,610 (GRCm39) D55E probably benign Het
Ttc21b A G 2: 66,057,257 (GRCm39) S572P possibly damaging Het
Ttc7 T A 17: 87,654,048 (GRCm39) L575Q probably damaging Het
Ubl4b C T 3: 107,462,194 (GRCm39) S22N probably damaging Het
Ubr4 T C 4: 139,163,502 (GRCm39) V2634A possibly damaging Het
Zbed6 A G 1: 133,584,778 (GRCm39) V853A probably benign Het
Zfp46 A C 4: 136,017,484 (GRCm39) D106A probably damaging Het
Zfp951 A C 5: 104,962,567 (GRCm39) I333S probably benign Het
Other mutations in Adamts20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00433:Adamts20 APN 15 94,292,522 (GRCm39) missense probably benign
IGL00491:Adamts20 APN 15 94,171,113 (GRCm39) missense possibly damaging 0.89
IGL00502:Adamts20 APN 15 94,301,278 (GRCm39) missense probably damaging 0.99
IGL00672:Adamts20 APN 15 94,238,986 (GRCm39) missense probably damaging 0.99
IGL00840:Adamts20 APN 15 94,180,363 (GRCm39) missense probably damaging 1.00
IGL00909:Adamts20 APN 15 94,277,694 (GRCm39) missense probably damaging 1.00
IGL01101:Adamts20 APN 15 94,241,923 (GRCm39) missense probably damaging 1.00
IGL01137:Adamts20 APN 15 94,292,492 (GRCm39) critical splice donor site probably null
IGL01457:Adamts20 APN 15 94,229,329 (GRCm39) missense probably damaging 0.97
IGL01685:Adamts20 APN 15 94,301,327 (GRCm39) missense possibly damaging 0.81
IGL01949:Adamts20 APN 15 94,223,987 (GRCm39) missense probably benign 0.08
IGL02525:Adamts20 APN 15 94,180,959 (GRCm39) splice site probably null
IGL03088:Adamts20 APN 15 94,227,795 (GRCm39) critical splice donor site probably null
IGL03175:Adamts20 APN 15 94,171,136 (GRCm39) nonsense probably null
belt UTSW 15 94,243,871 (GRCm39) missense probably damaging 1.00
buckeye UTSW 15 94,238,968 (GRCm39) missense probably damaging 1.00
jack_white UTSW 15 0 () unclassified
meowth UTSW 15 94,229,339 (GRCm39) missense probably damaging 1.00
nidoking UTSW 15 94,301,326 (GRCm39) missense probably damaging 1.00
panda UTSW 15 94,224,580 (GRCm39) intron probably benign
pikachu UTSW 15 94,243,871 (GRCm39) missense probably damaging 1.00
poliwag UTSW 15 94,292,503 (GRCm39) nonsense probably null
splotch2 UTSW 15 94,233,442 (GRCm39) intron probably benign
wash UTSW 15 94,245,551 (GRCm39) nonsense probably null
whitebelly UTSW 15 0 () unclassified
whopper UTSW 15 94,245,691 (GRCm39) missense probably damaging 1.00
R0483:Adamts20 UTSW 15 94,251,452 (GRCm39) missense probably benign 0.00
R0514:Adamts20 UTSW 15 94,168,257 (GRCm39) missense probably damaging 1.00
R0568:Adamts20 UTSW 15 94,189,594 (GRCm39) splice site probably benign
R0730:Adamts20 UTSW 15 94,245,571 (GRCm39) missense probably benign 0.00
R0973:Adamts20 UTSW 15 94,184,252 (GRCm39) missense probably benign 0.00
R1339:Adamts20 UTSW 15 94,220,777 (GRCm39) missense probably benign 0.19
R1721:Adamts20 UTSW 15 94,236,340 (GRCm39) missense probably benign 0.44
R1809:Adamts20 UTSW 15 94,238,968 (GRCm39) missense probably damaging 1.00
R1832:Adamts20 UTSW 15 94,184,225 (GRCm39) missense probably benign 0.00
R1846:Adamts20 UTSW 15 94,243,871 (GRCm39) missense probably damaging 1.00
R1867:Adamts20 UTSW 15 94,236,340 (GRCm39) missense probably benign 0.44
R1875:Adamts20 UTSW 15 94,229,277 (GRCm39) missense probably benign 0.01
R1930:Adamts20 UTSW 15 94,301,891 (GRCm39) missense probably benign 0.03
R1931:Adamts20 UTSW 15 94,301,891 (GRCm39) missense probably benign 0.03
R1932:Adamts20 UTSW 15 94,301,891 (GRCm39) missense probably benign 0.03
R2001:Adamts20 UTSW 15 94,245,599 (GRCm39) missense possibly damaging 0.96
R2116:Adamts20 UTSW 15 94,253,243 (GRCm39) missense probably damaging 1.00
R2162:Adamts20 UTSW 15 94,229,339 (GRCm39) missense probably damaging 1.00
R2350:Adamts20 UTSW 15 94,181,797 (GRCm39) missense probably damaging 1.00
R2887:Adamts20 UTSW 15 94,228,459 (GRCm39) missense probably benign 0.00
R2889:Adamts20 UTSW 15 94,228,459 (GRCm39) missense probably benign 0.00
R2890:Adamts20 UTSW 15 94,228,459 (GRCm39) missense probably benign 0.00
R3109:Adamts20 UTSW 15 94,243,785 (GRCm39) splice site probably benign
R3719:Adamts20 UTSW 15 94,259,719 (GRCm39) missense probably damaging 0.99
R3832:Adamts20 UTSW 15 94,229,339 (GRCm39) missense probably damaging 1.00
R3901:Adamts20 UTSW 15 94,226,726 (GRCm39) missense possibly damaging 0.81
R4398:Adamts20 UTSW 15 94,231,576 (GRCm39) missense possibly damaging 0.93
R4402:Adamts20 UTSW 15 94,277,827 (GRCm39) missense probably benign
R4431:Adamts20 UTSW 15 94,241,924 (GRCm39) missense probably damaging 1.00
R4479:Adamts20 UTSW 15 94,301,326 (GRCm39) missense probably damaging 1.00
R4482:Adamts20 UTSW 15 94,243,801 (GRCm39) missense probably damaging 1.00
R4503:Adamts20 UTSW 15 94,277,631 (GRCm39) missense probably damaging 0.99
R4700:Adamts20 UTSW 15 94,292,503 (GRCm39) nonsense probably null
R4707:Adamts20 UTSW 15 94,231,528 (GRCm39) missense possibly damaging 0.53
R4725:Adamts20 UTSW 15 94,249,643 (GRCm39) missense probably damaging 0.99
R4771:Adamts20 UTSW 15 94,249,516 (GRCm39) splice site probably null
R4829:Adamts20 UTSW 15 94,224,277 (GRCm39) missense probably benign 0.01
R4937:Adamts20 UTSW 15 94,277,656 (GRCm39) missense probably benign
R4960:Adamts20 UTSW 15 94,277,655 (GRCm39) missense probably benign
R5270:Adamts20 UTSW 15 94,180,400 (GRCm39) missense probably benign 0.00
R5388:Adamts20 UTSW 15 94,243,659 (GRCm39) missense possibly damaging 0.81
R5410:Adamts20 UTSW 15 94,179,838 (GRCm39) missense possibly damaging 0.94
R5453:Adamts20 UTSW 15 94,223,969 (GRCm39) missense possibly damaging 0.69
R5611:Adamts20 UTSW 15 94,171,161 (GRCm39) missense possibly damaging 0.65
R5687:Adamts20 UTSW 15 94,223,852 (GRCm39) missense probably benign 0.36
R5758:Adamts20 UTSW 15 94,292,531 (GRCm39) missense probably benign 0.00
R5801:Adamts20 UTSW 15 94,245,551 (GRCm39) nonsense probably null
R5834:Adamts20 UTSW 15 94,251,465 (GRCm39) missense probably damaging 0.99
R5993:Adamts20 UTSW 15 94,236,604 (GRCm39) missense probably damaging 0.99
R5997:Adamts20 UTSW 15 94,277,628 (GRCm39) missense probably damaging 1.00
R6044:Adamts20 UTSW 15 94,180,364 (GRCm39) missense probably damaging 1.00
R6058:Adamts20 UTSW 15 94,227,928 (GRCm39) nonsense probably null
R6217:Adamts20 UTSW 15 94,236,596 (GRCm39) missense probably benign 0.00
R6283:Adamts20 UTSW 15 94,249,602 (GRCm39) missense probably benign
R6354:Adamts20 UTSW 15 94,245,691 (GRCm39) missense probably damaging 1.00
R6415:Adamts20 UTSW 15 94,222,540 (GRCm39) critical splice donor site probably null
R6419:Adamts20 UTSW 15 94,231,556 (GRCm39) missense possibly damaging 0.84
R6476:Adamts20 UTSW 15 94,259,691 (GRCm39) missense probably benign 0.22
R6485:Adamts20 UTSW 15 94,241,852 (GRCm39) missense probably benign 0.17
R6517:Adamts20 UTSW 15 94,180,985 (GRCm39) splice site probably null
R6675:Adamts20 UTSW 15 94,229,197 (GRCm39) critical splice donor site probably null
R6863:Adamts20 UTSW 15 94,277,627 (GRCm39) nonsense probably null
R7186:Adamts20 UTSW 15 94,220,689 (GRCm39) missense possibly damaging 0.76
R7263:Adamts20 UTSW 15 94,220,772 (GRCm39) missense possibly damaging 0.52
R7441:Adamts20 UTSW 15 94,251,554 (GRCm39) missense probably damaging 1.00
R7519:Adamts20 UTSW 15 94,223,869 (GRCm39) missense possibly damaging 0.64
R7747:Adamts20 UTSW 15 94,189,468 (GRCm39) nonsense probably null
R7770:Adamts20 UTSW 15 94,231,579 (GRCm39) missense probably benign 0.02
R7816:Adamts20 UTSW 15 94,220,725 (GRCm39) missense probably benign 0.00
R7827:Adamts20 UTSW 15 94,223,814 (GRCm39) missense probably damaging 1.00
R7853:Adamts20 UTSW 15 94,243,871 (GRCm39) missense probably damaging 1.00
R7894:Adamts20 UTSW 15 94,249,641 (GRCm39) missense probably damaging 1.00
R7951:Adamts20 UTSW 15 94,238,947 (GRCm39) missense probably damaging 1.00
R8233:Adamts20 UTSW 15 94,189,533 (GRCm39) missense probably benign 0.19
R8458:Adamts20 UTSW 15 94,251,521 (GRCm39) missense probably benign 0.02
R8709:Adamts20 UTSW 15 94,238,947 (GRCm39) missense probably damaging 1.00
R8719:Adamts20 UTSW 15 94,241,903 (GRCm39) missense probably damaging 0.99
R8728:Adamts20 UTSW 15 94,229,281 (GRCm39) missense probably benign 0.00
R8787:Adamts20 UTSW 15 94,184,294 (GRCm39) missense possibly damaging 0.83
R8801:Adamts20 UTSW 15 94,258,490 (GRCm39) missense probably damaging 1.00
R9055:Adamts20 UTSW 15 94,181,867 (GRCm39) missense probably damaging 0.98
R9069:Adamts20 UTSW 15 94,236,349 (GRCm39) missense probably benign 0.00
R9297:Adamts20 UTSW 15 94,301,321 (GRCm39) missense possibly damaging 0.88
R9318:Adamts20 UTSW 15 94,301,321 (GRCm39) missense possibly damaging 0.88
R9362:Adamts20 UTSW 15 94,236,626 (GRCm39) missense possibly damaging 0.86
R9658:Adamts20 UTSW 15 94,249,626 (GRCm39) missense probably damaging 1.00
R9747:Adamts20 UTSW 15 94,180,943 (GRCm39) missense probably damaging 1.00
R9769:Adamts20 UTSW 15 94,251,459 (GRCm39) missense probably damaging 1.00
R9795:Adamts20 UTSW 15 94,301,180 (GRCm39) missense possibly damaging 0.78
Predicted Primers PCR Primer
(F):5'- CTGGCCTGGATCAGAGAAAAC -3'
(R):5'- AAGCCCTGGTGAAGACTCTG -3'

Sequencing Primer
(F):5'- CTCATAGGGAGGTACAATCAGGC -3'
(R):5'- ACGCGGGTCAATGAGTTC -3'
Posted On 2015-10-08