Mutagenetix > Incidental Mutation

Incidental Mutation 'R8801:Adamts20'

671518

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

068611-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.207) question?

Stock #

R8801 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

94166177-94329966 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 94258490 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 357 (D357A)

Ref Sequence

ENSEMBL: ENSMUSP00000036330 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035342] [ENSMUST00000155907]

AlphaFold

P59511

Predicted Effect

probably damaging
Transcript: ENSMUST00000035342
AA Change: D357A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000036330
Gene: ENSMUSG00000022449
AA Change: D357A

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000155907
AA Change: D357A

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000121696
Gene: ENSMUSG00000022449
AA Change: D357A

Domain	Start	End	E-Value	Type
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: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.6%

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730049H05Rik	G	A	6: 92,808,972 (GRCm39)	V100I	unknown	Het
Acta2	G	T	19: 34,229,207 (GRCm39)	Q61K	probably damaging	Het
Adcy4	A	G	14: 56,009,452 (GRCm39)	F798S	probably benign	Het
Aldh16a1	A	G	7: 44,791,438 (GRCm39)	V779A	probably benign	Het
Arid1b	C	A	17: 5,387,103 (GRCm39)	P1466T	probably benign	Het
B3gnt2	T	C	11: 22,787,002 (GRCm39)	E62G	probably damaging	Het
Bcan	A	C	3: 87,904,582 (GRCm39)	V58G	probably damaging	Het
Bhlhe41	T	C	6: 145,810,339 (GRCm39)	Q66R	probably damaging	Het
Cdh6	G	A	15: 13,044,847 (GRCm39)	T425I	probably damaging	Het
Ciao2b	C	T	8: 105,367,599 (GRCm39)		probably null	Het
Csmd2	A	G	4: 128,457,195 (GRCm39)	Y3554C	probably damaging	Het
Csmd3	T	A	15: 48,321,024 (GRCm39)	H262L	possibly damaging	Het
Dgcr8	A	G	16: 18,098,500 (GRCm39)	F334S	probably damaging	Het
Dipk1c	T	C	18: 84,757,617 (GRCm39)	S234P	probably benign	Het
Dsg1c	A	G	18: 20,410,022 (GRCm39)	T497A	probably benign	Het
Dsp	T	C	13: 38,381,502 (GRCm39)	V2749A	possibly damaging	Het
Esr1	A	G	10: 4,916,270 (GRCm39)	N486D	unknown	Het
Fbn2	T	C	18: 58,287,021 (GRCm39)	T213A	probably damaging	Het
Fbxo41	T	A	6: 85,461,663 (GRCm39)	E15V	probably damaging	Het
Fga	G	A	3: 82,938,188 (GRCm39)	A188T	possibly damaging	Het
Frk	C	T	10: 34,423,402 (GRCm39)	S160F	possibly damaging	Het
Gm4559	CTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAACAGCAGGGCTTGCAACAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCT	CTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAACAGCAGGGCTTGCAACAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCT	7: 141,827,553 (GRCm39)		probably benign	Het
Gss	T	C	2: 155,406,686 (GRCm39)	Y432C	probably damaging	Het
Ifi27l2b	A	T	12: 103,423,298 (GRCm39)	F5I	unknown	Het
Insm1	T	A	2: 146,065,346 (GRCm39)	Y387*	probably null	Het
Klf12	T	G	14: 100,260,172 (GRCm39)	I186L	probably benign	Het
Klrg1	C	T	6: 122,248,342 (GRCm39)	V186I	probably benign	Het
Loxl3	G	T	6: 83,025,629 (GRCm39)	W329L	probably damaging	Het
Lyst	T	A	13: 13,835,595 (GRCm39)	V1759E	probably benign	Het
Mlph	G	A	1: 90,870,609 (GRCm39)	V507I	probably benign	Het
Mroh8	G	A	2: 157,075,086 (GRCm39)	T470M	probably damaging	Het
Nampt	T	C	12: 32,888,373 (GRCm39)	Y175H	possibly damaging	Het
Nedd4l	A	G	18: 65,288,346 (GRCm39)	E2G	probably damaging	Het
Nrxn1	A	G	17: 91,009,393 (GRCm39)		probably benign	Het
Optc	A	G	1: 133,832,819 (GRCm39)	S94P	possibly damaging	Het
Or8k33	A	G	2: 86,383,727 (GRCm39)	V247A	probably benign	Het
Oxtr	T	A	6: 112,466,873 (GRCm39)		probably benign	Het
Phip	T	C	9: 82,758,305 (GRCm39)	R1463G	probably benign	Het
Pramel30	A	G	4: 144,059,438 (GRCm39)	Y383C	probably benign	Het
Psmc3ip	T	C	11: 100,984,617 (GRCm39)	N76S	probably benign	Het
Reln	T	A	5: 22,155,854 (GRCm39)	M2213L	possibly damaging	Het
Rock1	T	C	18: 10,070,260 (GRCm39)	D1271G	probably damaging	Het
Rprd1a	T	G	18: 24,641,280 (GRCm39)	E112A	probably benign	Het
Sacm1l	A	T	9: 123,411,384 (GRCm39)	D391V	probably damaging	Het
Serpina3f	A	T	12: 104,185,737 (GRCm39)	H314L	probably benign	Het
Setd5	T	A	6: 113,127,853 (GRCm39)	S1269T	possibly damaging	Het
Syne1	T	C	10: 5,308,335 (GRCm39)	E740G	probably damaging	Het
Tcaf1	T	A	6: 42,663,742 (GRCm39)	Q46L	probably damaging	Het
Tcam1	G	A	11: 106,173,618 (GRCm39)	A21T	probably benign	Het
Tchh	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	3: 93,354,015 (GRCm39)		probably benign	Het
Ttll11	A	T	2: 35,792,985 (GRCm39)	L286H	probably damaging	Het
Usp1	A	G	4: 98,822,848 (GRCm39)	T721A	probably benign	Het
Vps41	T	C	13: 18,998,403 (GRCm39)	S241P	possibly damaging	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
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'- GTTATTCTACAAAACCCAGAGGCAG -3'
(R):5'- AACTTGGCGAGCATCTCTTG -3'

Sequencing Primer
(F):5'- TACAAAACCCAGAGGCAGAATCAGAG -3'
(R):5'- TCTCTTGCCCACCGAGACAG -3'

Posted On

2021-04-30