Mutagenetix > Incidental Mutation

Incidental Mutation 'R9055:Adamts20'

688649

Institutional Source

Beutler Lab

Gene Symbol

Adamts20

Ensembl Gene

ENSMUSG00000022449

Gene Name

ADAM metallopeptidase with thrombospondin type 1 motif 20

Synonyms

ADAMTS-20, bt

MMRRC Submission

068881-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.233) question?

Stock #

R9055 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

94166177-94329966 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 94181867 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 1609 (Y1609H)

Ref Sequence

ENSEMBL: ENSMUSP00000036330 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035342]

AlphaFold

P59511

Predicted Effect

probably damaging
Transcript: ENSMUST00000035342
AA Change: Y1609H

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000036330
Gene: ENSMUSG00000022449
AA Change: Y1609H

Domain	Start	End	E-Value	Type
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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

97% (68/70)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	T	A	19: 57,030,398 (GRCm39)	T753S	probably benign	Het
Acy3	A	G	19: 4,038,178 (GRCm39)	E157G	probably benign	Het
Ahnak2	C	T	12: 112,741,019 (GRCm39)	A1018T	possibly damaging	Het
Ahsg	T	A	16: 22,711,069 (GRCm39)	W69R	possibly damaging	Het
Alox12	T	G	11: 70,143,903 (GRCm39)	D159A	probably damaging	Het
Alox12b	C	G	11: 69,054,884 (GRCm39)	P296A	possibly damaging	Het
Ankrd17	T	C	5: 90,380,168 (GRCm39)	I2507V	probably benign	Het
Apeh	T	C	9: 107,963,045 (GRCm39)	M670V	possibly damaging	Het
Aqp12	C	T	1: 92,934,627 (GRCm39)	A168V	probably benign	Het
Ceacam1	A	T	7: 25,171,299 (GRCm39)	D388E	probably damaging	Het
Clp1	A	T	2: 84,554,266 (GRCm39)	I301N	probably damaging	Het
Cntn3	A	G	6: 102,244,398 (GRCm39)	F384L	probably benign	Het
Dnpep	A	T	1: 75,291,805 (GRCm39)	M238K	possibly damaging	Het
Dync2h1	A	T	9: 6,996,641 (GRCm39)		probably benign	Het
Edc3	T	A	9: 57,623,360 (GRCm39)	N98K	probably benign	Het
Egr3	T	A	14: 70,316,349 (GRCm39)	N15K	probably damaging	Het
Fbxo25	T	A	8: 13,965,023 (GRCm39)	C25S	possibly damaging	Het
Fgd4	T	A	16: 16,240,494 (GRCm39)	D745V	possibly damaging	Het
Flnb	T	A	14: 7,908,553 (GRCm38)	D1310E	probably benign	Het
Ggnbp2	A	G	11: 84,732,448 (GRCm39)	F215S	probably damaging	Het
Gm1979	C	T	5: 26,207,032 (GRCm39)	R107Q	probably benign	Het
Gm4847	T	A	1: 166,467,677 (GRCm39)	H173L	probably damaging	Het
Gmeb1	A	T	4: 131,964,425 (GRCm39)	L146H	probably damaging	Het
Gpr88	A	G	3: 116,046,300 (GRCm39)	S4P	unknown	Het
Gucy1a1	A	G	3: 82,016,433 (GRCm39)	L185P	possibly damaging	Het
Hsd3b6	G	T	3: 98,713,984 (GRCm39)	T105N	probably damaging	Het
Iqca1	T	C	1: 89,998,335 (GRCm39)	Y546C	probably benign	Het
Irf1	T	A	11: 53,667,196 (GRCm39)	I305N	probably benign	Het
Itgb3	G	A	11: 104,556,451 (GRCm39)	W764*	probably null	Het
Klra8	G	T	6: 130,096,017 (GRCm39)	R192S	probably benign	Het
Krt79	T	A	15: 101,839,922 (GRCm39)	I358F	probably damaging	Het
Mettl4	T	C	17: 95,047,843 (GRCm39)	D266G	possibly damaging	Het
Mfsd8	G	A	3: 40,786,493 (GRCm39)	A219V	probably benign	Het
Mgam	G	A	6: 40,691,663 (GRCm39)		probably benign	Het
Nek9	A	T	12: 85,348,616 (GRCm39)	C973S	probably damaging	Het
Or2k2	G	T	4: 58,785,374 (GRCm39)	A116E	possibly damaging	Het
Or4f15	A	T	2: 111,814,049 (GRCm39)	Y123*	probably null	Het
Or8c13	T	C	9: 38,091,780 (GRCm39)	Y113C	probably damaging	Het
Ostc	T	A	3: 130,503,020 (GRCm39)	E2V	probably damaging	Het
Ostc	C	A	3: 130,503,021 (GRCm39)	E2*	probably null	Het
Pcdhb8	T	A	18: 37,490,585 (GRCm39)	C754*	probably null	Het
Polr1a	A	G	6: 71,892,053 (GRCm39)	T111A	possibly damaging	Het
Prep	C	T	10: 44,991,291 (GRCm39)	T319M	probably benign	Het
Reg3b	A	C	6: 78,349,886 (GRCm39)	D142A	possibly damaging	Het
Retsat	A	G	6: 72,583,936 (GRCm39)	D537G	probably benign	Het
Rnf2	G	A	1: 151,352,030 (GRCm39)	L109F	probably damaging	Het
Rskr	A	G	11: 78,184,373 (GRCm39)	D240G	probably damaging	Het
Runx3	G	T	4: 134,902,656 (GRCm39)	R262L	probably damaging	Het
Rwdd3	G	T	3: 120,952,871 (GRCm39)	T112K	probably benign	Het
Scfd2	T	C	5: 74,691,931 (GRCm39)	H117R	possibly damaging	Het
Scn10a	C	T	9: 119,451,958 (GRCm39)	V1321M	probably damaging	Het
Sec31a	T	C	5: 100,534,040 (GRCm39)	E119G	possibly damaging	Het
Skint6	C	A	4: 113,095,347 (GRCm39)	G104V	probably damaging	Het
Slc18a1	T	A	8: 69,520,823 (GRCm39)	I199F	possibly damaging	Het
St18	C	T	1: 6,873,206 (GRCm39)	R314*	probably null	Het
Sucla2	T	G	14: 73,819,068 (GRCm39)		probably benign	Het
Sulf1	A	T	1: 12,878,187 (GRCm39)	H225L	probably damaging	Het
Tas2r140	A	G	6: 133,032,380 (GRCm39)	V126A	possibly damaging	Het
Tcp10b	T	C	17: 13,281,828 (GRCm39)	I66T	probably damaging	Het
Tmem45a2	T	C	16: 56,861,115 (GRCm39)	I237M	probably benign	Het
Traf3ip1	C	T	1: 91,428,733 (GRCm39)	R167*	probably null	Het
Trav17	T	G	14: 54,044,320 (GRCm39)	V30G	probably damaging	Het
Vmn1r54	A	G	6: 90,246,100 (GRCm39)	N5D	probably benign	Het
Vmn2r81	A	G	10: 79,110,441 (GRCm39)	H518R	probably benign	Het
Washc3	A	G	10: 88,051,916 (GRCm39)	T102A	probably benign	Het
Xaf1	A	G	11: 72,194,266 (GRCm39)	H49R	probably damaging	Het
Zfp1001	G	A	2: 150,165,753 (GRCm39)		probably benign	Het
Zfp276	T	C	8: 123,985,109 (GRCm39)	F356L	probably damaging	Het
Zfp398	G	T	6: 47,843,319 (GRCm39)	R457L	possibly damaging	Het
Zfp512	G	T	5: 31,637,533 (GRCm39)	E541*	probably null	Het

Other mutations in Adamts20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R4671:Adamts20	UTSW	15	94,301,206 (GRCm39)	missense	possibly damaging	0.48
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
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'- CTGCAAAGGGCCCTAAATTCAG -3'
(R):5'- TGCCTAAACCTCTATGGCCC -3'

Sequencing Primer
(F):5'- GGGCCCTAAATTCAGAATTCTGGAC -3'
(R):5'- GTTTCCCAACCTTTGAATGAAGCTG -3'

Posted On

2021-11-19