Mutagenetix > Incidental Mutation

Incidental Mutation 'R7791:Adamts9'

599874

Institutional Source

Beutler Lab

Gene Symbol

Adamts9

Ensembl Gene

ENSMUSG00000030022

Gene Name

ADAM metallopeptidase with thrombospondin type 1 motif 9

Synonyms

Mhdaund3, Mhdaund4, 1810011L16Rik, 8430403M15Rik, E030027K14Rik, Gsfund3, UND3, UND4

MMRRC Submission

045847-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7791 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

92749680-92920473 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 92849366 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 1031 (V1031D)

Ref Sequence

ENSEMBL: ENSMUSP00000109065 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000113434] [ENSMUST00000113438] [ENSMUST00000167391]

AlphaFold

E9PUN6

Predicted Effect

probably benign
Transcript: ENSMUST00000113434

Predicted Effect

probably benign
Transcript: ENSMUST00000113438
AA Change: V1031D

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000109065
Gene: ENSMUSG00000030022
AA Change: V1031D

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:Pep_M12B_propep	49	207	1.8e-37	PFAM
low complexity region	234	247	N/A	INTRINSIC
Pfam:Reprolysin_5	291	476	7.6e-17	PFAM
Pfam:Reprolysin_4	291	495	2e-11	PFAM
Pfam:Reprolysin	293	499	7.4e-29	PFAM
Pfam:Reprolysin_2	310	489	1e-13	PFAM
Pfam:Reprolysin_3	314	445	1.7e-14	PFAM
TSP1	591	643	2.15e-9	SMART
Pfam:ADAM_spacer1	753	871	7.3e-35	PFAM
TSP1	881	936	1.14e0	SMART
Blast:TSP1	938	993	2e-28	BLAST
TSP1	1000	1054	3.78e-5	SMART
TSP1	1055	1109	5.64e-4	SMART
TSP1	1110	1166	1.25e-5	SMART
TSP1	1186	1240	1.45e-6	SMART
TSP1	1242	1296	4.41e-6	SMART
TSP1	1328	1380	7.06e-5	SMART
TSP1	1381	1436	4.24e-8	SMART
TSP1	1440	1495	8.23e-6	SMART
TSP1	1496	1551	1.23e-4	SMART
TSP1	1552	1609	2e-4	SMART
TSP1	1611	1672	1.25e-5	SMART
TSP1	1676	1730	3.47e-4	SMART
Pfam:GON	1732	1930	1.6e-85	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000167391
AA Change: V450D

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000126498
Gene: ENSMUSG00000030022
AA Change: V450D

Domain	Start	End	E-Value	Type
TSP1	10	62	2.15e-9	SMART
Pfam:ADAM_spacer1	172	290	6.1e-35	PFAM
TSP1	300	355	1.14e0	SMART
Blast:TSP1	357	412	3e-28	BLAST
TSP1	419	473	3.78e-5	SMART
TSP1	474	528	5.64e-4	SMART
TSP1	529	585	1.25e-5	SMART
TSP1	605	659	1.45e-6	SMART
TSP1	661	715	4.41e-6	SMART
TSP1	747	799	7.06e-5	SMART
TSP1	800	855	4.24e-8	SMART
TSP1	859	914	8.23e-6	SMART
TSP1	915	970	1.23e-4	SMART
TSP1	971	1028	2e-4	SMART
TSP1	1030	1091	1.25e-5	SMART
TSP1	1095	1149	3.47e-4	SMART
Pfam:GON	1150	1350	2.1e-86	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (51/51)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. Members of the ADAMTS family have been implicated in the cleavage of proteoglycans, the control of organ shape during development, and the inhibition of angiogenesis. This gene is localized to chromosome 3p14.3-p14.2, an area known to be lost in hereditary renal tumors. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Jan 2016]
PHENOTYPE: Homozygous null mice display embryonic lethality before somite formation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921517D22Rik	A	T	13: 59,838,508 (GRCm39)	M108K	probably benign	Het
AAdacl4fm3	A	G	4: 144,430,015 (GRCm39)	S325P	probably damaging	Het
Agap3	C	T	5: 24,681,411 (GRCm39)	R122C	probably damaging	Het
Arhgap27	A	G	11: 103,230,020 (GRCm39)		probably null	Het
Atp1a2	T	A	1: 172,103,782 (GRCm39)	I950F	probably benign	Het
Bahcc1	T	G	11: 120,159,203 (GRCm39)	H143Q	probably damaging	Het
Bcl7b	T	A	5: 135,199,968 (GRCm39)	D40E	probably damaging	Het
C9	C	T	15: 6,519,359 (GRCm39)	R399C	possibly damaging	Het
Capn13	T	C	17: 73,689,883 (GRCm39)	I43V	possibly damaging	Het
Ctcf	A	G	8: 106,391,571 (GRCm39)	T289A	possibly damaging	Het
Cux2	T	C	5: 122,005,162 (GRCm39)	N1008S	probably benign	Het
Dst	T	A	1: 34,193,673 (GRCm39)	M294K	probably damaging	Het
Eml4	G	T	17: 83,781,135 (GRCm39)	D778Y	probably benign	Het
Exoc3l4	A	C	12: 111,389,974 (GRCm39)	D183A	probably damaging	Het
Eya4	A	T	10: 22,989,825 (GRCm39)	S511T	probably damaging	Het
Fbrsl1	T	C	5: 110,595,885 (GRCm39)	H50R	probably benign	Het
Gemin5	G	A	11: 58,015,819 (GRCm39)	P1396S	probably benign	Het
Gnb4	A	G	3: 32,644,192 (GRCm39)	F151L	possibly damaging	Het
Gnptab	A	G	10: 88,276,084 (GRCm39)		probably null	Het
Gpbp1l1	T	A	4: 116,431,617 (GRCm39)	W92R	probably damaging	Het
Gucy1b1	A	T	3: 81,942,704 (GRCm39)	Y479*	probably null	Het
Htr3a	T	A	9: 48,812,875 (GRCm39)	Q188L	possibly damaging	Het
Ighv5-9-1	A	G	12: 113,700,165 (GRCm39)	F18S	probably damaging	Het
Loxhd1	A	G	18: 77,471,425 (GRCm39)	T1004A	probably damaging	Het
Mansc4	G	A	6: 146,983,042 (GRCm39)	L132F	unknown	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Mtor	G	T	4: 148,547,397 (GRCm39)	R460L	probably benign	Het
Mtus1	A	T	8: 41,536,417 (GRCm39)	F433Y	possibly damaging	Het
Myoc	T	C	1: 162,476,690 (GRCm39)	Y465H	probably damaging	Het
N4bp1	A	G	8: 87,579,831 (GRCm39)	V657A	probably damaging	Het
Ndufv1	A	T	19: 4,061,533 (GRCm39)		probably null	Het
Nectin1	T	C	9: 43,703,336 (GRCm39)	I198T	probably benign	Het
Or10h1	T	A	17: 33,418,326 (GRCm39)	C101*	probably null	Het
Or8g20	T	C	9: 39,396,177 (GRCm39)	D124G	probably damaging	Het
Padi2	C	T	4: 140,644,907 (GRCm39)	T47I	probably benign	Het
Pdia4	A	T	6: 47,784,056 (GRCm39)	I116N	probably damaging	Het
Pkdrej	T	A	15: 85,700,132 (GRCm39)	I1935L	possibly damaging	Het
Pnpla7	C	A	2: 24,942,078 (GRCm39)	A1173D	probably damaging	Het
Ralgapa1	A	T	12: 55,788,304 (GRCm39)	L593Q	probably damaging	Het
Scn5a	A	G	9: 119,372,402 (GRCm39)	S231P	possibly damaging	Het
Slc13a2	A	G	11: 78,312,890 (GRCm39)		probably null	Het
Spdl1	A	G	11: 34,704,304 (GRCm39)	S510P	possibly damaging	Het
Tbxa2r	G	T	10: 81,170,540 (GRCm39)	*342L	probably null	Het
Tfrc	A	G	16: 32,437,985 (GRCm39)	K346R	probably benign	Het
Tmem52b	A	G	6: 129,489,966 (GRCm39)		probably benign	Het
Tsc1	T	C	2: 28,571,960 (GRCm39)	F844L	probably damaging	Het
Ttc39a	A	G	4: 109,283,544 (GRCm39)	N158S	probably benign	Het
Ulk4	C	T	9: 121,092,734 (GRCm39)	E168K	possibly damaging	Het
Vgf	T	C	5: 137,060,885 (GRCm39)	L349P	unknown	Het
Vil1	T	C	1: 74,467,295 (GRCm39)	Y681H	probably damaging	Het
Zfp654	A	G	16: 64,603,634 (GRCm39)	*572R	probably null	Het

Other mutations in Adamts9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00565:Adamts9	APN	6	92,836,883 (GRCm39)	missense	possibly damaging	0.90
IGL01352:Adamts9	APN	6	92,837,155 (GRCm39)	missense	probably benign	0.00
IGL01462:Adamts9	APN	6	92,871,247 (GRCm39)	missense	probably benign	0.04
IGL01551:Adamts9	APN	6	92,784,001 (GRCm39)	missense	probably damaging	0.99
IGL01577:Adamts9	APN	6	92,835,128 (GRCm39)	splice site	probably benign
IGL01638:Adamts9	APN	6	92,849,409 (GRCm39)	missense	probably benign	0.19
IGL01757:Adamts9	APN	6	92,773,140 (GRCm39)	missense	probably damaging	1.00
IGL02102:Adamts9	APN	6	92,754,420 (GRCm39)	missense	probably benign	0.00
IGL02379:Adamts9	APN	6	92,774,014 (GRCm39)	missense	probably damaging	0.97
IGL02419:Adamts9	APN	6	92,773,978 (GRCm39)	missense	probably benign	0.04
IGL02554:Adamts9	APN	6	92,857,828 (GRCm39)	missense	probably benign	0.01
IGL02832:Adamts9	APN	6	92,784,156 (GRCm39)	missense	probably damaging	1.00
IGL03164:Adamts9	APN	6	92,866,918 (GRCm39)	missense	probably damaging	1.00
IGL03347:Adamts9	APN	6	92,864,413 (GRCm39)	nonsense	probably null
IGL03401:Adamts9	APN	6	92,763,849 (GRCm39)	missense	probably damaging	0.97
basilisk	UTSW	6	92,837,170 (GRCm39)	missense	probably benign	0.35
bluebeard	UTSW	6	92,856,940 (GRCm39)	nonsense	probably null
Serpent	UTSW	6	92,885,687 (GRCm39)	missense	probably damaging	1.00
PIT4402001:Adamts9	UTSW	6	92,849,328 (GRCm39)	missense	probably benign
PIT4458001:Adamts9	UTSW	6	92,866,886 (GRCm39)	missense	probably damaging	0.99
R0047:Adamts9	UTSW	6	92,882,287 (GRCm39)	unclassified	probably benign
R0047:Adamts9	UTSW	6	92,882,287 (GRCm39)	unclassified	probably benign
R0067:Adamts9	UTSW	6	92,867,148 (GRCm39)	missense	probably damaging	0.98
R0141:Adamts9	UTSW	6	92,920,066 (GRCm39)	missense	probably benign
R0326:Adamts9	UTSW	6	92,835,038 (GRCm39)	nonsense	probably null
R0396:Adamts9	UTSW	6	92,774,986 (GRCm39)	missense	probably benign	0.00
R0490:Adamts9	UTSW	6	92,849,847 (GRCm39)	missense	probably benign
R0504:Adamts9	UTSW	6	92,889,626 (GRCm39)	missense	probably damaging	1.00
R0620:Adamts9	UTSW	6	92,835,094 (GRCm39)	missense	possibly damaging	0.95
R0669:Adamts9	UTSW	6	92,857,938 (GRCm39)	missense	probably damaging	1.00
R0682:Adamts9	UTSW	6	92,880,783 (GRCm39)	missense	possibly damaging	0.80
R1412:Adamts9	UTSW	6	92,773,414 (GRCm39)	missense	probably benign
R1433:Adamts9	UTSW	6	92,826,271 (GRCm39)	critical splice donor site	probably null
R1558:Adamts9	UTSW	6	92,885,692 (GRCm39)	missense	possibly damaging	0.87
R1661:Adamts9	UTSW	6	92,857,604 (GRCm39)	missense	possibly damaging	0.92
R1801:Adamts9	UTSW	6	92,840,357 (GRCm39)	missense	probably benign	0.27
R1855:Adamts9	UTSW	6	92,878,350 (GRCm39)	splice site	probably benign
R1887:Adamts9	UTSW	6	92,849,769 (GRCm39)	critical splice donor site	probably null
R1934:Adamts9	UTSW	6	92,920,102 (GRCm39)	missense	possibly damaging	0.59
R1956:Adamts9	UTSW	6	92,836,830 (GRCm39)	missense	probably damaging	1.00
R1986:Adamts9	UTSW	6	92,773,375 (GRCm39)	missense	probably benign
R2370:Adamts9	UTSW	6	92,837,184 (GRCm39)	missense	probably damaging	0.99
R2376:Adamts9	UTSW	6	92,889,812 (GRCm39)	missense	probably benign
R2432:Adamts9	UTSW	6	92,834,881 (GRCm39)	missense	probably damaging	1.00
R2876:Adamts9	UTSW	6	92,772,891 (GRCm39)	splice site	probably benign
R3015:Adamts9	UTSW	6	92,849,913 (GRCm39)	missense	probably benign	0.05
R3611:Adamts9	UTSW	6	92,846,965 (GRCm39)	missense	probably benign	0.05
R4024:Adamts9	UTSW	6	92,849,765 (GRCm39)	splice site	probably benign
R4292:Adamts9	UTSW	6	92,772,977 (GRCm39)	missense	possibly damaging	0.95
R4403:Adamts9	UTSW	6	92,836,845 (GRCm39)	missense	probably damaging	1.00
R4574:Adamts9	UTSW	6	92,856,940 (GRCm39)	nonsense	probably null
R4677:Adamts9	UTSW	6	92,793,587 (GRCm39)	start codon destroyed	probably null
R5114:Adamts9	UTSW	6	92,867,254 (GRCm39)	missense	probably benign	0.03
R5260:Adamts9	UTSW	6	92,784,118 (GRCm39)	missense	probably benign	0.00
R5384:Adamts9	UTSW	6	92,774,999 (GRCm39)	missense	probably damaging	1.00
R5423:Adamts9	UTSW	6	92,857,678 (GRCm39)	missense	possibly damaging	0.84
R5497:Adamts9	UTSW	6	92,831,346 (GRCm39)	missense	probably damaging	1.00
R5629:Adamts9	UTSW	6	92,775,114 (GRCm39)	missense	probably damaging	1.00
R5943:Adamts9	UTSW	6	92,880,767 (GRCm39)	missense	probably benign	0.02
R6039:Adamts9	UTSW	6	92,885,527 (GRCm39)	missense	possibly damaging	0.95
R6039:Adamts9	UTSW	6	92,885,527 (GRCm39)	missense	possibly damaging	0.95
R6051:Adamts9	UTSW	6	92,867,099 (GRCm39)	missense	probably damaging	1.00
R6051:Adamts9	UTSW	6	92,836,907 (GRCm39)	missense	possibly damaging	0.83
R6082:Adamts9	UTSW	6	92,866,930 (GRCm39)	missense	probably damaging	1.00
R6192:Adamts9	UTSW	6	92,774,002 (GRCm39)	missense	probably damaging	1.00
R6291:Adamts9	UTSW	6	92,867,101 (GRCm39)	missense	probably damaging	1.00
R6502:Adamts9	UTSW	6	92,849,316 (GRCm39)	missense	probably damaging	1.00
R6818:Adamts9	UTSW	6	92,882,172 (GRCm39)	missense	probably damaging	1.00
R6848:Adamts9	UTSW	6	92,840,335 (GRCm39)	missense	possibly damaging	0.84
R7028:Adamts9	UTSW	6	92,886,774 (GRCm39)	nonsense	probably null
R7095:Adamts9	UTSW	6	92,864,672 (GRCm39)	missense	probably benign	0.39
R7287:Adamts9	UTSW	6	92,866,984 (GRCm39)	missense	possibly damaging	0.89
R7294:Adamts9	UTSW	6	92,871,270 (GRCm39)	missense	probably damaging	1.00
R7313:Adamts9	UTSW	6	92,835,102 (GRCm39)	missense	probably damaging	1.00
R7581:Adamts9	UTSW	6	92,914,319 (GRCm39)	missense	probably benign	0.00
R7682:Adamts9	UTSW	6	92,857,679 (GRCm39)	missense	possibly damaging	0.57
R7691:Adamts9	UTSW	6	92,773,219 (GRCm39)	missense	probably damaging	1.00
R7851:Adamts9	UTSW	6	92,885,687 (GRCm39)	missense	probably damaging	1.00
R7974:Adamts9	UTSW	6	92,886,668 (GRCm39)	critical splice donor site	probably null
R8224:Adamts9	UTSW	6	92,773,351 (GRCm39)	missense	probably damaging	0.96
R8328:Adamts9	UTSW	6	92,866,993 (GRCm39)	missense	probably benign	0.17
R8334:Adamts9	UTSW	6	92,914,225 (GRCm39)	splice site	probably null
R8559:Adamts9	UTSW	6	92,784,117 (GRCm39)	missense	probably benign	0.01
R8709:Adamts9	UTSW	6	92,784,144 (GRCm39)	missense	probably damaging	1.00
R8735:Adamts9	UTSW	6	92,837,048 (GRCm39)	intron	probably benign
R8739:Adamts9	UTSW	6	92,831,261 (GRCm39)	missense	probably benign	0.04
R9108:Adamts9	UTSW	6	92,857,721 (GRCm39)	missense	probably damaging	1.00
R9171:Adamts9	UTSW	6	92,849,381 (GRCm39)	missense	probably benign	0.03
R9198:Adamts9	UTSW	6	92,837,170 (GRCm39)	missense	probably benign	0.35
R9299:Adamts9	UTSW	6	92,773,976 (GRCm39)	missense	probably benign	0.00
R9300:Adamts9	UTSW	6	92,864,371 (GRCm39)	missense	probably benign	0.10
R9308:Adamts9	UTSW	6	92,857,875 (GRCm39)	missense	probably benign	0.03
R9325:Adamts9	UTSW	6	92,849,279 (GRCm39)	missense	probably benign	0.00
R9397:Adamts9	UTSW	6	92,878,444 (GRCm39)	missense	probably damaging	1.00
R9550:Adamts9	UTSW	6	92,878,429 (GRCm39)	missense	probably benign	0.00
R9623:Adamts9	UTSW	6	92,857,661 (GRCm39)	missense	probably benign	0.02
R9698:Adamts9	UTSW	6	92,784,121 (GRCm39)	missense	probably damaging	1.00
R9755:Adamts9	UTSW	6	92,856,922 (GRCm39)	missense	probably benign	0.15
RF013:Adamts9	UTSW	6	92,920,126 (GRCm39)	missense	possibly damaging	0.88
Z1177:Adamts9	UTSW	6	92,831,327 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ACAGTAGTCTACACCTCCGC -3'
(R):5'- GCTCCCCAGGTTAATTTGTAATG -3'

Sequencing Primer
(F):5'- GTCTACACCTCCGCCCGAC -3'
(R):5'- CCCCAGGTTAATTTGTAATGTCTGAC -3'

Posted On

2019-11-26