Mutagenetix > Incidental Mutation

Incidental Mutation 'R9755:Adamts9'

732680

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 #

R9755 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

92749680-92920473 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 92856922 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 906 (R906G)

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: R906G

PolyPhen 2 Score 0.154 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000109065
Gene: ENSMUSG00000030022
AA Change: R906G

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: R325G

PolyPhen 2 Score 0.154 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000126498
Gene: ENSMUSG00000030022
AA Change: R325G

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: 99.8%
3x: 99.7%
10x: 99.1%
20x: 97.8%

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acin1	A	T	14: 54,889,292 (GRCm39)	M774K	probably damaging	Het
Adgrl4	A	T	3: 151,216,418 (GRCm39)	T534S	probably benign	Het
Amph	A	T	13: 19,297,325 (GRCm39)	D357V	probably damaging	Het
Arhgap33	C	T	7: 30,227,926 (GRCm39)	V452I	possibly damaging	Het
B4galnt2	G	A	11: 95,774,801 (GRCm39)	Q160*	probably null	Het
C1galt1	T	G	6: 7,867,019 (GRCm39)	N288K	probably benign	Het
Cacna1c	T	C	6: 118,651,559 (GRCm39)	D967G	probably damaging	Het
Cacul1	C	T	19: 60,533,955 (GRCm39)	E216K	probably damaging	Het
Cenpq	A	T	17: 41,243,712 (GRCm39)	S45R	probably benign	Het
Cfap54	T	A	10: 92,757,230 (GRCm39)	M2216L	unknown	Het
Cfhr1	A	G	1: 139,487,889 (GRCm39)	F3S	probably benign	Het
Csf2rb	T	G	15: 78,232,824 (GRCm39)	Y710*	probably null	Het
Dhh	A	G	15: 98,792,939 (GRCm39)	V107A	possibly damaging	Het
Etl4	A	T	2: 20,790,048 (GRCm39)	T849S	probably benign	Het
Gnrh1	G	A	14: 67,986,699 (GRCm39)	E78K	possibly damaging	Het
Golga3	A	G	5: 110,340,847 (GRCm39)	T514A	probably benign	Het
Gramd1c	T	A	16: 43,803,879 (GRCm39)	K393N	probably benign	Het
Kcp	T	C	6: 29,492,460 (GRCm39)	Y844C	probably damaging	Het
Lrrc15	T	A	16: 30,093,147 (GRCm39)	H64L	possibly damaging	Het
Mak	G	T	13: 41,199,623 (GRCm39)	Q339K	probably benign	Het
Mdfic	G	T	6: 15,799,758 (GRCm39)	C295F	probably damaging	Het
Mdfic2	A	T	6: 98,225,147 (GRCm39)	N45K	probably benign	Het
Mfsd14b	C	A	13: 65,221,414 (GRCm39)	V293L	probably benign	Het
Miip	A	T	4: 147,950,319 (GRCm39)	Y92*	probably null	Het
Mycbp2	A	T	14: 103,551,806 (GRCm39)	S175T	probably benign	Het
Nacad	A	G	11: 6,549,374 (GRCm39)		probably null	Het
Ndnf	T	G	6: 65,680,502 (GRCm39)	D260E	probably benign	Het
Nphp1	G	A	2: 127,595,951 (GRCm39)	Q505*	probably null	Het
Or12e7	C	A	2: 87,287,719 (GRCm39)	A70E	probably damaging	Het
Or8g29-ps1	A	G	9: 39,200,970 (GRCm39)	V72A	possibly damaging	Het
Plcg1	G	A	2: 160,573,780 (GRCm39)	G15D	probably benign	Het
Ppm1h	A	G	10: 122,638,165 (GRCm39)	Y145C	probably damaging	Het
Prickle2	C	T	6: 92,399,319 (GRCm39)	C186Y	probably damaging	Het
Prmt6	A	C	3: 110,157,359 (GRCm39)	L310R	probably damaging	Het
Psg25	A	T	7: 18,260,460 (GRCm39)	I146N	probably benign	Het
Sapcd1	A	G	17: 35,245,400 (GRCm39)	S128P	probably benign	Het
Scart2	T	A	7: 139,841,544 (GRCm39)		probably null	Het
Sema3b	T	C	9: 107,478,784 (GRCm39)	S331G	probably damaging	Het
Shank1	G	A	7: 43,962,342 (GRCm39)	S71N	unknown	Het
Skil	A	G	3: 31,151,544 (GRCm39)	E22G	probably benign	Het
Slc13a1	T	C	6: 24,134,407 (GRCm39)	I159V	probably benign	Het
Slc44a4	A	G	17: 35,136,331 (GRCm39)	I41V	probably benign	Het
Taar2	T	C	10: 23,817,038 (GRCm39)	F193L	probably damaging	Het
Taar8a	A	G	10: 23,952,995 (GRCm39)	I200V	probably benign	Het
Trpc4	A	G	3: 54,223,215 (GRCm39)	Y717C	probably damaging	Het
Vmn2r116	A	T	17: 23,620,065 (GRCm39)	T600S	probably damaging	Het
Vwa1	G	A	4: 155,857,336 (GRCm39)	P154L	probably damaging	Het
Zfp318	A	G	17: 46,722,055 (GRCm39)	T1353A	probably damaging	Het
Zfp830	C	T	11: 82,655,805 (GRCm39)	T203I	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
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
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'- AAGACTGGCAACTCTTGTCTC -3'
(R):5'- ATCATGTGGCTTTACGGGTC -3'

Sequencing Primer
(F):5'- GGCAACTCTTGTCTCCATCG -3'
(R):5'- TAGCAGTCTGTCTATGGCCAGC -3'

Posted On

2022-11-14