Mutagenetix > Incidental Mutation

Incidental Mutation 'R0067:Adamts9'

59639

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

038358-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0067 (G1)

Quality Score

194

Status

Validated

Chromosome

Chromosomal Location

92749680-92920473 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 92867148 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 79 (K79N)

Ref Sequence

ENSEMBL: ENSMUSP00000126498 (fasta)

Gene Model

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

AlphaFold

E9PUN6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000113438
AA Change: K660N

PolyPhen 2 Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000109065
Gene: ENSMUSG00000030022
AA Change: K660N

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 damaging
Transcript: ENSMUST00000167391
AA Change: K79N

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000126498
Gene: ENSMUSG00000030022
AA Change: K79N

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

0.6467

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.3%

Validation Efficiency

97% (63/65)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn4	C	T	7: 28,610,995 (GRCm39)	V248M	possibly damaging	Het
AW209491	A	T	13: 14,812,328 (GRCm39)	I394F	probably benign	Het
Cacna1d	A	T	14: 29,796,967 (GRCm39)		probably benign	Het
Cacna1i	A	T	15: 80,265,373 (GRCm39)	I1542F	probably damaging	Het
Cep97	A	T	16: 55,735,924 (GRCm39)	N291K	possibly damaging	Het
Clasp2	A	T	9: 113,689,209 (GRCm39)		probably benign	Het
Coq8b	T	C	7: 26,932,906 (GRCm39)	L5P	possibly damaging	Het
Dennd1c	T	C	17: 57,382,465 (GRCm39)	Q67R	probably damaging	Het
Dysf	T	C	6: 84,040,313 (GRCm39)	V119A	possibly damaging	Het
Eml1	A	G	12: 108,429,786 (GRCm39)	D23G	possibly damaging	Het
Eva1c	A	T	16: 90,663,305 (GRCm39)	D13V	possibly damaging	Het
Fam151b	T	C	13: 92,610,504 (GRCm39)	K95R	probably benign	Het
Glo1	A	T	17: 30,813,245 (GRCm39)		probably null	Het
Gm11360	T	A	13: 28,140,214 (GRCm39)	M26K	probably benign	Het
Gps2	C	T	11: 69,805,607 (GRCm39)	Q42*	probably null	Het
Gypa	A	G	8: 81,229,710 (GRCm39)	H102R	possibly damaging	Het
Hdac4	G	A	1: 91,957,706 (GRCm39)	H103Y	probably damaging	Het
Hivep1	T	A	13: 42,312,132 (GRCm39)	D1457E	probably benign	Het
Hunk	A	G	16: 90,244,200 (GRCm39)	D110G	probably damaging	Het
L3mbtl1	A	G	2: 162,790,748 (GRCm39)	K225E	probably damaging	Het
Limch1	A	G	5: 67,131,965 (GRCm39)	S143G	probably damaging	Het
Macf1	T	C	4: 123,369,041 (GRCm39)	K342E	possibly damaging	Het
Mc5r	T	A	18: 68,472,637 (GRCm39)	M332K	probably damaging	Het
Memo1	A	G	17: 74,532,453 (GRCm39)	V185A	probably damaging	Het
Mtrex	C	T	13: 113,023,396 (GRCm39)	V727I	probably benign	Het
Myf6	A	T	10: 107,329,340 (GRCm39)		probably null	Het
Myh14	G	A	7: 44,272,551 (GRCm39)	T1418I	probably benign	Het
Pbk	G	A	14: 66,052,675 (GRCm39)	V173I	possibly damaging	Het
Plekha5	C	T	6: 140,470,629 (GRCm39)	T90I	probably damaging	Het
Ptbp2	T	C	3: 119,514,290 (GRCm39)	T478A	probably benign	Het
Rasgrp1	C	A	2: 117,125,301 (GRCm39)	R246S	probably damaging	Het
Rflnb	A	T	11: 75,912,987 (GRCm39)	S134T	possibly damaging	Het
Rnf214	A	G	9: 45,778,796 (GRCm39)		probably null	Het
Rps6ka5	T	A	12: 100,582,342 (GRCm39)	I177F	probably damaging	Het
Rtn2	T	A	7: 19,028,396 (GRCm39)		probably benign	Het
Satb1	T	C	17: 52,111,364 (GRCm39)	T165A	probably damaging	Het
Scamp1	T	C	13: 94,340,658 (GRCm39)	Y237C	probably damaging	Het
Skint10	A	T	4: 112,568,753 (GRCm39)	F321L	probably benign	Het
Slc36a2	A	G	11: 55,053,466 (GRCm39)		probably benign	Het
Slc8a1	A	G	17: 81,745,188 (GRCm39)	V672A	probably benign	Het
Slitrk6	A	T	14: 110,987,364 (GRCm39)	L781H	probably damaging	Het
Sp140l2	T	A	1: 85,247,773 (GRCm39)	N5Y	probably benign	Het
Spats2	C	A	15: 99,110,168 (GRCm39)	P522T	possibly damaging	Het
Stkld1	A	T	2: 26,839,352 (GRCm39)	E339D	probably benign	Het
Tbc1d9	A	G	8: 83,960,872 (GRCm39)	T241A	probably damaging	Het
Ticrr	A	T	7: 79,327,158 (GRCm39)	D622V	probably damaging	Het
Tie1	A	G	4: 118,333,477 (GRCm39)		probably benign	Het
Trak1	G	C	9: 121,301,973 (GRCm39)	V910L	probably damaging	Het
Trmt1l	T	C	1: 151,324,131 (GRCm39)	V326A	probably benign	Het
Tshr	A	G	12: 91,472,057 (GRCm39)	T136A	probably damaging	Het
Ube3c	A	G	5: 29,803,936 (GRCm39)	T180A	possibly damaging	Het
Unc13a	A	C	8: 72,087,302 (GRCm39)	F1482V	probably damaging	Het
Unc79	A	G	12: 103,025,777 (GRCm39)	E388G	probably damaging	Het
Ush2a	A	T	1: 188,697,043 (GRCm39)	D5167V	probably damaging	Het
Vmn2r93	A	T	17: 18,546,672 (GRCm39)	H848L	probably benign	Het
Wdfy4	G	A	14: 32,884,708 (GRCm39)	R65C	probably null	Het
Zcchc9	T	C	13: 91,945,368 (GRCm39)	I72V	probably benign	Het
Zfc3h1	G	T	10: 115,259,379 (GRCm39)	L1650F	possibly damaging	Het
Zzz3	A	G	3: 152,134,040 (GRCm39)	D366G	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
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
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

Predicted Primers

PCR Primer
(F):5'- GTCAATCACTCTGTCTCGGAGCTG -3'
(R):5'- TCACAAGTGAAGCCATGATGAGTGC -3'

Sequencing Primer
(F):5'- TGCAGAACAACTTGCACCG -3'
(R):5'- GATGAGTGCAGACATCATTTCC -3'

Posted On

2013-07-11