Mutagenetix > Incidental Mutation

Incidental Mutation 'R9550:Adamts9'

720431

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9550 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

92749680-92920473 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 92878429 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 546 (V546E)

Ref Sequence

ENSEMBL: ENSMUSP00000109065 (fasta)

Gene Model

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

AlphaFold

E9PUN6

Predicted Effect

probably benign
Transcript: ENSMUST00000113438
AA Change: V546E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000109065
Gene: ENSMUSG00000030022
AA Change: V546E

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

SMART Domains

Protein: ENSMUSP00000126498
Gene: ENSMUSG00000030022

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 99.1%

Validation Efficiency

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26a	A	G	8: 44,022,120 (GRCm39)	C457R	probably damaging	Het
Add3	G	A	19: 53,233,521 (GRCm39)	E641K	possibly damaging	Het
Anks1b	T	A	10: 90,412,360 (GRCm39)	M1K	probably null	Het
C1s2	G	A	6: 124,605,253 (GRCm39)	Q361*	probably null	Het
Casp4	T	C	9: 5,328,465 (GRCm39)	S316P	probably damaging	Het
Cby2	A	G	14: 75,820,603 (GRCm39)	V374A	probably damaging	Het
Cdyl	A	G	13: 36,000,147 (GRCm39)	T143A	probably benign	Het
Cep85	T	C	4: 133,858,598 (GRCm39)	T760A	probably damaging	Het
Chd2	A	G	7: 73,119,439 (GRCm39)	L1035P	probably damaging	Het
Cpne8	T	C	15: 90,453,760 (GRCm39)	I208V	probably benign	Het
Cux1	A	G	5: 136,340,387 (GRCm39)	L641P	probably damaging	Het
Dlgap1	T	A	17: 71,093,902 (GRCm39)	M741K	possibly damaging	Het
Dnajc16	T	C	4: 141,495,058 (GRCm39)	Y518C	possibly damaging	Het
Dtnb	A	G	12: 3,768,437 (GRCm39)	N343D	possibly damaging	Het
Dusp3	A	T	11: 101,872,668 (GRCm39)	S43T	probably benign	Het
Epha8	G	T	4: 136,665,897 (GRCm39)	L420M	probably damaging	Het
Espn	C	T	4: 152,215,534 (GRCm39)	R575H	probably damaging	Het
Gls	A	T	1: 52,251,373 (GRCm39)	L328*	probably null	Het
H2-T23	T	C	17: 36,342,712 (GRCm39)	D142G	probably damaging	Het
Hck	A	G	2: 152,976,651 (GRCm39)	M262V	probably benign	Het
Igkv14-126	G	T	6: 67,873,199 (GRCm39)	L13F	possibly damaging	Het
Muc2	C	T	7: 141,308,242 (GRCm39)	R913C	probably damaging	Het
Mypop	A	T	7: 18,726,245 (GRCm39)	T71S	probably damaging	Het
Nadsyn1	A	G	7: 143,353,615 (GRCm39)	I536T	probably damaging	Het
Obsl1	T	C	1: 75,474,910 (GRCm39)	E830G	possibly damaging	Het
Or1q1	T	A	2: 36,887,137 (GRCm39)	I105N	probably damaging	Het
Or8d2b	T	C	9: 38,788,937 (GRCm39)	V155A	probably benign	Het
Pcdha8	A	T	18: 37,127,399 (GRCm39)	Y627F	possibly damaging	Het
Polr1b	T	A	2: 128,962,205 (GRCm39)	S742R	unknown	Het
Ppm1e	A	T	11: 87,121,919 (GRCm39)	N679K	probably benign	Het
Raly	AGCAGCAGTGGTGGAGGAGGAGGCAGCAGTGGTGGAGG	AGCAGCAGTGGTGGAGG	2: 154,705,754 (GRCm39)		probably benign	Het
Rgs12	G	T	5: 35,196,665 (GRCm39)	G1430C	probably damaging	Het
Rhcg	T	C	7: 79,248,296 (GRCm39)	Y436C	probably damaging	Het
Ripor3	T	C	2: 167,822,807 (GRCm39)	D918G	probably benign	Het
Rlf	A	G	4: 121,003,620 (GRCm39)	F1897L	probably damaging	Het
Sin3a	T	C	9: 56,996,768 (GRCm39)	V99A	probably benign	Het
Slc22a29	A	T	19: 8,195,224 (GRCm39)	L137*	probably null	Het
Sufu	A	G	19: 46,385,675 (GRCm39)	Y45C	probably damaging	Het
Thsd1	C	T	8: 22,733,026 (GRCm39)		probably benign	Het
Tiam2	T	A	17: 3,559,706 (GRCm39)	L1249Q	probably damaging	Het
Toe1	C	T	4: 116,661,916 (GRCm39)	V418M	probably benign	Het
Trappc12	T	C	12: 28,761,985 (GRCm39)		probably null	Het
Triobp	A	G	15: 78,858,077 (GRCm39)	D1226G	probably damaging	Het
Zfhx4	T	C	3: 5,464,572 (GRCm39)	S1602P	probably damaging	Het
Zfp266	T	C	9: 20,410,482 (GRCm39)	K565R	probably damaging	Het
Zfp319	T	C	8: 96,055,025 (GRCm39)	T393A	probably benign	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
R7791:Adamts9	UTSW	6	92,849,366 (GRCm39)	missense	probably benign	0.00
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
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'- AGAATACGTATGCTGGAACACAC -3'
(R):5'- ACATAAATGTGTCTTGGGTGGC -3'

Sequencing Primer
(F):5'- CCATGTTATACTATATGCCACCATAC -3'
(R):5'- GGTGGCTGCATTTTGGAATATG -3'

Posted On

2022-08-09