Mutagenetix > Incidental Mutation

Incidental Mutation 'R5453:Adamts20'

432642

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

043017-MU

Accession Numbers

Essential gene?

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

Stock #

R5453 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

94166177-94329966 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 94223969 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1253 (E1253G)

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: E1253G

PolyPhen 2 Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000036330
Gene: ENSMUSG00000022449
AA Change: E1253G

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: E1253G

PolyPhen 2 Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000121696
Gene: ENSMUSG00000022449
AA Change: E1253G

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: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	G	A	11: 110,210,622 (GRCm39)	Q186*	probably null	Het
Adgrd1	T	C	5: 129,256,647 (GRCm39)	F640S	probably damaging	Het
Anxa1	C	T	19: 20,357,703 (GRCm39)		probably null	Het
Babam2	A	G	5: 32,164,590 (GRCm39)	E288G	probably damaging	Het
Cd163	C	T	6: 124,289,500 (GRCm39)	A406V	probably damaging	Het
Cdh13	A	T	8: 119,925,706 (GRCm39)	D358V	probably damaging	Het
Cdk10	A	G	8: 123,953,131 (GRCm39)	I45V	probably benign	Het
Crybg2	A	T	4: 133,806,147 (GRCm39)		probably null	Het
Dnhd1	A	G	7: 105,359,330 (GRCm39)	D3555G	probably damaging	Het
Dync1h1	A	G	12: 110,599,099 (GRCm39)	D1818G	probably benign	Het
Emsy	T	C	7: 98,250,013 (GRCm39)	K758R	probably damaging	Het
Fat3	A	G	9: 15,908,160 (GRCm39)	V2614A	probably damaging	Het
Hivep2	T	C	10: 14,003,972 (GRCm39)	I190T	possibly damaging	Het
Hoxb3	T	C	11: 96,235,480 (GRCm39)	S136P	probably damaging	Het
Hras	A	C	7: 140,772,768 (GRCm39)	V29G	probably damaging	Het
Hycc1	A	G	5: 24,192,877 (GRCm39)		probably null	Het
Igll1	A	G	16: 16,681,558 (GRCm39)		probably null	Het
Insr	G	A	8: 3,205,694 (GRCm39)	T1365I	probably benign	Het
Kitl	T	A	10: 99,923,247 (GRCm39)	W187R	probably damaging	Het
Klb	T	A	5: 65,540,728 (GRCm39)	F940L	probably benign	Het
Lrp1b	C	T	2: 41,172,249 (GRCm39)	R725K	probably damaging	Het
Map4	C	T	9: 109,866,851 (GRCm39)		probably benign	Het
Mrps35	A	G	6: 146,972,115 (GRCm39)	S253G	probably benign	Het
Mycbp2	C	T	14: 103,438,837 (GRCm39)	E2015K	probably damaging	Het
Nyap2	A	C	1: 81,169,857 (GRCm39)	I205L	probably benign	Het
Or12d13	T	C	17: 37,647,953 (GRCm39)	M57V	possibly damaging	Het
Or6k14	A	G	1: 173,927,033 (GRCm39)	K3R	probably benign	Het
Rab11fip3	C	T	17: 26,211,555 (GRCm39)		probably null	Het
Rbm47	A	G	5: 66,184,525 (GRCm39)	V26A	probably benign	Het
Ripk2	A	T	4: 16,151,989 (GRCm39)	I190N	probably damaging	Het
Spmip4	A	G	6: 50,572,776 (GRCm39)		probably null	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Ttc17	A	T	2: 94,133,905 (GRCm39)	N1150K	probably damaging	Het
Zfp108	G	T	7: 23,960,689 (GRCm39)	G427W	probably damaging	Het
Zfp84	A	G	7: 29,475,722 (GRCm39)	E138G	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
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'- AAAGATGGCTTACTGCTCCC -3'
(R):5'- ATGCCTACGAGCAAGCAGAC -3'

Sequencing Primer
(F):5'- ATGGCTTACTGCTCCCCAAGG -3'
(R):5'- TAAAGACAGTGTTTGAAATGGATGGC -3'

Posted On

2016-10-06