Mutagenetix > Incidental Mutation

Incidental Mutation 'R6476:Adamts20'

516813

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 #

R6476 (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 C at 94259691 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 336 (Q336R)

Ref Sequence

ENSEMBL: ENSMUSP00000121696 (fasta)

Gene Model

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

AlphaFold

P59511

Predicted Effect

probably benign
Transcript: ENSMUST00000035342
AA Change: Q336R

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000036330
Gene: ENSMUSG00000022449
AA Change: Q336R

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

noncoding transcript
Transcript: ENSMUST00000129195

Predicted Effect

probably benign
Transcript: ENSMUST00000155907
AA Change: Q336R

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000121696
Gene: ENSMUSG00000022449
AA Change: Q336R

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: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.3%

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
a	T	C	2: 154,892,699 (GRCm39)	V126A	probably benign	Het
Ankrd36	A	G	11: 5,578,753 (GRCm39)	T6A	probably benign	Het
Arhgap33	A	G	7: 30,223,837 (GRCm39)	S731P	probably damaging	Het
Arhgef10l	G	C	4: 140,338,693 (GRCm39)	P23R	probably damaging	Het
Atf7	T	C	15: 102,502,147 (GRCm39)	D3G	probably benign	Het
Caps2	A	G	10: 112,011,465 (GRCm39)	T30A	possibly damaging	Het
Ccdc15	A	T	9: 37,253,715 (GRCm39)	I191N	probably benign	Het
Cep170	A	T	1: 176,607,917 (GRCm39)	S180T	possibly damaging	Het
Chd1	G	A	17: 17,601,250 (GRCm39)		probably null	Het
Col6a3	A	T	1: 90,709,534 (GRCm39)	N1887K	unknown	Het
Csgalnact1	C	T	8: 68,913,761 (GRCm39)	S148N	probably damaging	Het
Csgalnact1	T	A	8: 68,913,762 (GRCm39)	S148C	probably damaging	Het
Dnah14	A	G	1: 181,572,333 (GRCm39)	E2888G	probably benign	Het
Dnah7b	T	A	1: 46,281,364 (GRCm39)	Y2808*	probably null	Het
Dock10	A	C	1: 80,518,959 (GRCm39)	L1254*	probably null	Het
Eml2	T	C	7: 18,930,236 (GRCm39)	V511A	probably benign	Het
Eml6	A	G	11: 29,741,971 (GRCm39)		probably null	Het
Erbin	C	A	13: 103,977,755 (GRCm39)	D601Y	probably damaging	Het
Farsa	A	G	8: 85,583,809 (GRCm39)	E49G	probably damaging	Het
Fzd7	A	G	1: 59,523,154 (GRCm39)	M346V	probably damaging	Het
Gatd3a	T	C	10: 78,003,347 (GRCm39)	N102D	probably damaging	Het
Glg1	A	C	8: 111,926,806 (GRCm39)	S170A	possibly damaging	Het
Gpx3	A	T	11: 54,798,025 (GRCm39)	I54F	probably damaging	Het
H6pd	G	A	4: 150,067,184 (GRCm39)	H401Y	probably damaging	Het
Hspb8	A	G	5: 116,560,457 (GRCm39)	S28P	probably damaging	Het
Iqub	T	A	6: 24,449,744 (GRCm39)	N707I	probably damaging	Het
Krt9	A	T	11: 100,081,640 (GRCm39)	D296E	probably damaging	Het
Lcor	C	T	19: 41,571,518 (GRCm39)	T237I	probably benign	Het
Lnx1	A	G	5: 74,768,541 (GRCm39)	V349A	possibly damaging	Het
Map3k6	A	T	4: 132,977,397 (GRCm39)	S915C	probably damaging	Het
Mecom	C	A	3: 30,034,717 (GRCm39)	A510S	possibly damaging	Het
Mettl14	A	G	3: 123,167,686 (GRCm39)	I224T	probably damaging	Het
Mme	T	C	3: 63,251,056 (GRCm39)		probably null	Het
Nbea	T	A	3: 55,912,227 (GRCm39)	T1187S	probably benign	Het
Ndor1	T	C	2: 25,138,154 (GRCm39)	T444A	possibly damaging	Het
Nhlrc1	A	G	13: 47,167,657 (GRCm39)	L200P	possibly damaging	Het
Npc1	G	T	18: 12,334,751 (GRCm39)	S667*	probably null	Het
Nscme3l	A	C	19: 5,553,253 (GRCm39)	I176S	probably damaging	Het
Or14a256	C	T	7: 86,265,218 (GRCm39)	V212I	probably benign	Het
Or1l8	T	A	2: 36,817,595 (GRCm39)	H177L	possibly damaging	Het
Or4c109	T	A	2: 88,817,721 (GRCm39)	D275V	probably benign	Het
Or51d1	T	A	7: 102,348,310 (GRCm39)	N288K	possibly damaging	Het
Or5g9	T	A	2: 85,551,928 (GRCm39)	Y60N	probably damaging	Het
Pds5a	A	C	5: 65,791,630 (GRCm39)	I773R	possibly damaging	Het
Pgr	T	A	9: 8,964,839 (GRCm39)		probably null	Het
Plscr4	A	T	9: 92,372,819 (GRCm39)	M314L	probably benign	Het
Polr2m	A	G	9: 71,390,752 (GRCm39)	V46A	probably benign	Het
Ptk2b	T	A	14: 66,424,923 (GRCm39)	M174L	possibly damaging	Het
Sec31a	A	T	5: 100,534,008 (GRCm39)	F521I	probably benign	Het
Serpinb3d	T	C	1: 107,011,071 (GRCm39)	N47S	probably benign	Het
Shld2	T	C	14: 33,989,971 (GRCm39)	S312G	probably benign	Het
Slc24a3	T	A	2: 145,448,750 (GRCm39)	D431E	probably benign	Het
Slc34a1	C	A	13: 23,996,569 (GRCm39)	H25N	probably damaging	Het
Slc9a9	T	C	9: 94,567,191 (GRCm39)	F87L	probably benign	Het
Spata31	T	A	13: 65,065,456 (GRCm39)	S54T	possibly damaging	Het
Spata6	T	C	4: 111,632,020 (GRCm39)	S144P	probably damaging	Het
Sppl2c	A	G	11: 104,077,595 (GRCm39)	N132D	probably benign	Het
Ssu2	C	T	6: 112,351,793 (GRCm39)	G311S	probably damaging	Het
Syne1	T	A	10: 5,104,531 (GRCm39)	Q6328L	possibly damaging	Het
Tie1	T	C	4: 118,330,062 (GRCm39)	T1054A	possibly damaging	Het
Tnfaip6	T	G	2: 51,942,328 (GRCm39)	D212E	probably benign	Het
Tnxb	A	G	17: 34,909,166 (GRCm39)	T1442A	probably damaging	Het
Trim35	C	T	14: 66,546,244 (GRCm39)	T337M	probably damaging	Het
Vipr1	T	C	9: 121,498,489 (GRCm39)	V413A	probably benign	Het
Vmn1r19	C	G	6: 57,381,578 (GRCm39)	Q44E	probably damaging	Het
Zfp1002	T	C	2: 150,097,246 (GRCm39)	D61G	probably benign	Het
Zfp266	G	T	9: 20,410,577 (GRCm39)	H533Q	probably damaging	Het
Zfp689	T	C	7: 127,043,896 (GRCm39)	S245G	probably 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
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'- CCTGAGGAATTTCCCACAATTC -3'
(R):5'- CGATACTCTTCAGGCACCTG -3'

Sequencing Primer
(F):5'- CATTCTGAGAGCTCTCGGG -3'
(R):5'- TCTTCAGGCACCTGTAAAACTGGAG -3'

Posted On

2018-05-21