Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01352:Adamts9'

75384

Institutional Source

Australian Phenomics Network (link to record)

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01352

Quality Score

Status

Chromosome

Chromosomal Location

92749680-92920473 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 92837155 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 1169 (I1169V)

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: I1169V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000109065
Gene: ENSMUSG00000030022
AA Change: I1169V

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

noncoding transcript
Transcript: ENSMUST00000125490

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130314

Predicted Effect

probably benign
Transcript: ENSMUST00000167391
AA Change: I588V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000126498
Gene: ENSMUSG00000030022
AA Change: I588V

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

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
B3gnt5	T	C	16: 19,587,963 (GRCm39)	S61P	probably damaging	Het
Bambi	G	A	18: 3,512,071 (GRCm39)	A152T	probably damaging	Het
Cacna1c	G	A	6: 118,633,518 (GRCm39)	Q930*	probably null	Het
Ccdc178	A	G	18: 22,152,031 (GRCm39)		probably benign	Het
Chit1	C	T	1: 134,076,228 (GRCm39)	T295M	probably damaging	Het
Cntnap5c	C	A	17: 58,600,896 (GRCm39)	N746K	probably benign	Het
Cyfip2	A	T	11: 46,156,823 (GRCm39)	F422I	probably benign	Het
Dsg3	A	G	18: 20,656,753 (GRCm39)	M208V	probably benign	Het
Erich6	G	A	3: 58,529,781 (GRCm39)		probably null	Het
Gbf1	A	G	19: 46,253,654 (GRCm39)	H574R	probably damaging	Het
Gm17654	T	G	14: 43,813,331 (GRCm39)	E186D	probably damaging	Het
Gm8165	T	C	14: 43,913,573 (GRCm39)	N97S	unknown	Het
Ilf3	C	T	9: 21,303,618 (GRCm39)	L160F	possibly damaging	Het
Krt84	T	A	15: 101,437,209 (GRCm39)	Q318L	probably damaging	Het
Lrp2	T	A	2: 69,333,870 (GRCm39)	H1457L	possibly damaging	Het
Lrrc37a	T	A	11: 103,390,181 (GRCm39)	D1748V	probably benign	Het
Mybl1	T	C	1: 9,741,904 (GRCm39)	E676G	probably damaging	Het
Myo10	C	A	15: 25,701,783 (GRCm39)	R53S	probably damaging	Het
Myorg	T	A	4: 41,499,469 (GRCm39)	R54*	probably null	Het
Nrap	A	G	19: 56,368,268 (GRCm39)	S205P	probably benign	Het
Or4c52	A	G	2: 89,846,063 (GRCm39)	D263G	probably damaging	Het
Or52z1	A	T	7: 103,437,285 (GRCm39)	Y66*	probably null	Het
Or8b1b	A	G	9: 38,376,030 (GRCm39)	N231S	probably benign	Het
Pkhd1	T	A	1: 20,619,939 (GRCm39)	M894L	probably benign	Het
Ptpn13	G	A	5: 103,634,641 (GRCm39)		probably null	Het
Pycard	T	C	7: 127,592,674 (GRCm39)	D9G	probably damaging	Het
Rbfox3	G	A	11: 118,396,439 (GRCm39)		probably benign	Het
Rnf122	C	T	8: 31,614,908 (GRCm39)	R71*	probably null	Het
Scel	T	A	14: 103,770,774 (GRCm39)	D69E	possibly damaging	Het
Spag6	T	G	2: 18,715,284 (GRCm39)	M21R	possibly damaging	Het
Stat5a	A	G	11: 100,771,898 (GRCm39)	D650G	probably damaging	Het
Tars3	T	C	7: 65,308,658 (GRCm39)	I276T	possibly damaging	Het
Tnfaip2	G	T	12: 111,412,053 (GRCm39)	E151D	probably damaging	Het
Trio	G	A	15: 27,901,315 (GRCm39)	T313I	probably benign	Het
Ubqln4	A	C	3: 88,471,775 (GRCm39)	M404L	probably benign	Het
Vps33b	T	A	7: 79,934,807 (GRCm39)		probably null	Het
Wdfy3	A	T	5: 102,091,986 (GRCm39)	V451D	probably damaging	Het
Zfp341	G	T	2: 154,470,816 (GRCm39)	A278S	probably benign	Het
Zp3r	C	T	1: 130,547,093 (GRCm39)	A28T	possibly damaging	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
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
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

Posted On

2013-10-07