Mutagenetix > Incidental Mutation

Incidental Mutation 'R5410:Adamts20'

426526

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

042979-MU

Accession Numbers

Essential gene?

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

Stock #

R5410 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

94166177-94329966 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 94179838 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 1788 (N1788I)

Ref Sequence

ENSEMBL: ENSMUSP00000036330 (fasta)

Gene Model

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

AlphaFold

P59511

Predicted Effect

possibly damaging
Transcript: ENSMUST00000035342
AA Change: N1788I

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000036330
Gene: ENSMUSG00000022449
AA Change: N1788I

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: 99.1%
3x: 98.4%
10x: 96.5%
20x: 92.8%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam24	A	G	8: 41,134,103 (GRCm39)	M524V	probably benign	Het
Arfgef3	T	G	10: 18,486,985 (GRCm39)	I1350L	probably damaging	Het
Arhgap17	A	G	7: 122,896,716 (GRCm39)		probably null	Het
Ascl5	A	T	1: 135,978,926 (GRCm39)	I129F	probably damaging	Het
AU040320	A	T	4: 126,717,509 (GRCm39)	H362L	possibly damaging	Het
Bpifb9a	A	T	2: 154,112,155 (GRCm39)	N564Y	probably benign	Het
Cdon	G	T	9: 35,381,331 (GRCm39)	D574Y	probably damaging	Het
Cenps	C	A	4: 149,214,658 (GRCm39)		probably benign	Het
Ces1e	T	A	8: 93,937,070 (GRCm39)	I334F	possibly damaging	Het
Clip2	G	A	5: 134,551,645 (GRCm39)	T159M	possibly damaging	Het
Cntn3	T	A	6: 102,255,314 (GRCm39)	T195S	probably benign	Het
Csmd2	C	A	4: 128,442,612 (GRCm39)	H3221Q	probably benign	Het
Cyp2c68	T	C	19: 39,687,728 (GRCm39)	D423G	possibly damaging	Het
Dennd3	C	T	15: 73,419,297 (GRCm39)	T696M	probably benign	Het
Ep300	T	C	15: 81,533,055 (GRCm39)	M1704T	unknown	Het
Exoc2	A	G	13: 31,048,839 (GRCm39)	F738S	probably damaging	Het
Fis1	A	G	5: 136,994,420 (GRCm39)	E36G	probably damaging	Het
Galnt1	A	G	18: 24,400,604 (GRCm39)	I237V	probably benign	Het
Gspt1	A	T	16: 11,048,374 (GRCm39)	I416N	probably benign	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Hykk	G	A	9: 54,853,350 (GRCm39)	C224Y	probably damaging	Het
Ifi211	T	C	1: 173,733,829 (GRCm39)	T111A	probably benign	Het
Il17rd	T	C	14: 26,817,868 (GRCm39)	Y186H	probably damaging	Het
Klhl29	G	T	12: 5,141,366 (GRCm39)	N539K	probably benign	Het
Lmbr1l	T	C	15: 98,807,143 (GRCm39)	T213A	probably damaging	Het
Madd	C	T	2: 90,984,859 (GRCm39)	R1318Q	probably damaging	Het
Mecom	C	A	3: 30,051,870 (GRCm39)	A182S	probably benign	Het
Or13c25	C	A	4: 52,910,991 (GRCm39)	A268S	probably benign	Het
Or1e1	C	T	11: 73,244,632 (GRCm39)	P18S	probably benign	Het
Or4f56	C	T	2: 111,703,637 (GRCm39)	A188T	probably damaging	Het
Or52z1	A	T	7: 103,436,581 (GRCm39)	V301E	probably damaging	Het
Otud4	T	A	8: 80,399,626 (GRCm39)	M780K	probably benign	Het
Pdia5	A	G	16: 35,273,906 (GRCm39)	V130A	probably damaging	Het
Phldb2	T	A	16: 45,645,975 (GRCm39)	H202L	possibly damaging	Het
Ppig	G	A	2: 69,566,241 (GRCm39)	G136E	probably null	Het
Prr14l	C	A	5: 32,985,121 (GRCm39)	R1458L	probably damaging	Het
Ptpn3	T	C	4: 57,205,019 (GRCm39)	Y714C	probably damaging	Het
Ptprr	T	C	10: 116,024,235 (GRCm39)	V182A	possibly damaging	Het
Rai14	A	G	15: 10,575,024 (GRCm39)	Y645H	probably damaging	Het
Rasgrp3	T	C	17: 75,804,042 (GRCm39)	I115T	probably benign	Het
Rc3h1	G	T	1: 160,792,533 (GRCm39)	R990L	possibly damaging	Het
Rdh5	T	A	10: 128,754,160 (GRCm39)	Q21L	probably benign	Het
Rfx8	A	G	1: 39,749,316 (GRCm39)		probably null	Het
Scap	A	G	9: 110,203,250 (GRCm39)		probably null	Het
Shank1	T	A	7: 44,001,246 (GRCm39)	S988R	unknown	Het
Slc16a14	T	A	1: 84,885,145 (GRCm39)	I465F	probably damaging	Het
Slc41a2	A	G	10: 83,117,232 (GRCm39)		probably null	Het
Tab2	T	C	10: 7,795,585 (GRCm39)	H225R	possibly damaging	Het
Tbx19	T	A	1: 164,987,941 (GRCm39)	N64I	probably damaging	Het
Tmprss11f	A	T	5: 86,677,965 (GRCm39)	I268K	probably damaging	Het
Tox2	A	G	2: 163,162,293 (GRCm39)	M388V	probably benign	Het
Trbv17	T	C	6: 41,140,472 (GRCm39)	L109P	probably damaging	Het
Trim72	A	G	7: 127,609,095 (GRCm39)	H299R	probably damaging	Het
Ulbp3	G	A	10: 3,076,473 (GRCm39)		noncoding transcript	Het
Vmn1r63	C	T	7: 5,806,189 (GRCm39)	V148I	possibly damaging	Het
Zfp938	A	C	10: 82,061,092 (GRCm39)	H509Q	possibly damaging	Het
Zfyve16	A	G	13: 92,657,739 (GRCm39)	V724A	probably benign	Het
Zscan10	T	C	17: 23,829,395 (GRCm39)	F569L	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
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'- AGGTCCCCATACTTCCTCAGAG -3'
(R):5'- GGAAGGACAGAAGTGTGCCTTC -3'

Sequencing Primer
(F):5'- GGAAACCATCTTGTACAACGGTTC -3'
(R):5'- GAAGTGTGCCTTCTGTTTTACC -3'

Posted On

2016-09-01