Incidental Mutation 'R7095:Adamts9'
ID 550412
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 045243-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7095 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 92749680-92920473 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 92864672 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 763 (H763L)
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: H763L

PolyPhen 2 Score 0.386 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000109065
Gene: ENSMUSG00000030022
AA Change: H763L

DomainStartEndE-ValueType
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: H182L

PolyPhen 2 Score 0.386 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000126498
Gene: ENSMUSG00000030022
AA Change: H182L

DomainStartEndE-ValueType
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: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 99% (71/72)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf1 A G 17: 36,268,403 (GRCm39) V809A possibly damaging Het
Adam32 T A 8: 25,404,086 (GRCm39) D242V probably damaging Het
Aff1 A G 5: 103,990,951 (GRCm39) D967G probably damaging Het
Anpep A T 7: 79,491,950 (GRCm39) L17Q possibly damaging Het
Appbp2 G T 11: 85,125,553 (GRCm39) S28* probably null Het
Bach1 G A 16: 87,516,179 (GRCm39) R240Q probably benign Het
Bod1l A G 5: 41,952,411 (GRCm39) probably null Het
Capn5 G A 7: 97,775,038 (GRCm39) T534I probably benign Het
Cbx2 T C 11: 118,918,885 (GRCm39) I150T probably damaging Het
Cdh11 A G 8: 103,384,899 (GRCm39) V392A probably damaging Het
Cenpf A T 1: 189,391,373 (GRCm39) C803S probably benign Het
Cep135 A G 5: 76,741,905 (GRCm39) T114A probably benign Het
Chd2 A T 7: 73,121,629 (GRCm39) D994E probably damaging Het
Chtf18 C A 17: 25,941,652 (GRCm39) W584C probably damaging Het
Dclk2 C T 3: 86,700,566 (GRCm39) R638H probably damaging Het
Dgkh C A 14: 78,865,224 (GRCm39) M172I probably benign Het
Dpy19l2 T G 9: 24,607,110 (GRCm39) H117P probably benign Het
Dzip3 A T 16: 48,748,153 (GRCm39) N908K probably benign Het
Erc2 A T 14: 27,620,550 (GRCm39) N393Y probably damaging Het
Fam118b T C 9: 35,132,786 (GRCm39) E291G possibly damaging Het
Fam193a C T 5: 34,615,378 (GRCm39) L816F probably damaging Het
Fat2 A G 11: 55,202,157 (GRCm39) Y306H probably damaging Het
Fndc10 C T 4: 155,779,574 (GRCm39) T206I probably damaging Het
Fzd1 GGGACTCCTCCACCTCCCTGGA GGGA 5: 4,805,824 (GRCm39) probably benign Het
Gsk3a A T 7: 24,933,279 (GRCm39) Y177N probably damaging Het
Haus5 T C 7: 30,358,997 (GRCm39) T222A probably benign Het
Igfbp7 G T 5: 77,549,337 (GRCm39) Q189K probably benign Het
Inppl1 A T 7: 101,476,663 (GRCm39) Y771* probably null Het
Iqck A T 7: 118,514,814 (GRCm39) Y234F probably damaging Het
Irs1 G T 1: 82,267,819 (GRCm39) C132* probably null Het
Jmjd1c T G 10: 67,055,411 (GRCm39) V277G probably benign Het
Klhl22 G A 16: 17,610,614 (GRCm39) V622M probably damaging Het
Kri1 C T 9: 21,190,728 (GRCm39) E378K Het
Lilra6 C T 7: 3,916,196 (GRCm39) G221D probably damaging Het
Mecom T C 3: 30,035,103 (GRCm39) E191G probably damaging Het
Mgrn1 T A 16: 4,745,528 (GRCm39) probably null Het
Mical1 C T 10: 41,355,206 (GRCm39) probably null Het
Mlxipl T C 5: 135,162,884 (GRCm39) Y711H possibly damaging Het
Mpl T A 4: 118,301,260 (GRCm39) H535L Het
Mtarc1 A G 1: 184,527,437 (GRCm39) L297P probably damaging Het
Mtfr2 C A 10: 20,228,666 (GRCm39) H71N probably benign Het
Mtrf1 GCCTTC GC 14: 79,660,931 (GRCm39) probably null Het
Myh15 A G 16: 48,992,272 (GRCm39) Q1582R possibly damaging Het
Neb C T 2: 52,067,635 (GRCm39) E6062K possibly damaging Het
Nlrp4c G A 7: 6,063,792 (GRCm39) A67T probably damaging Het
Noc3l T A 19: 38,800,789 (GRCm39) H231L probably benign Het
Odf1 T C 15: 38,219,803 (GRCm39) Y44H possibly damaging Het
Or52e2 G A 7: 102,804,537 (GRCm39) T139I probably damaging Het
Or52s1b C T 7: 102,822,253 (GRCm39) R197H probably benign Het
Or5j3 C T 2: 86,129,021 (GRCm39) P287L probably benign Het
Otol1 G T 3: 69,926,027 (GRCm39) E67D probably benign Het
Otud7b A G 3: 96,062,554 (GRCm39) S598G probably benign Het
Ppwd1 T A 13: 104,342,134 (GRCm39) T607S probably benign Het
Prag1 A G 8: 36,569,714 (GRCm39) N99S probably benign Het
Ralgds C A 2: 28,439,320 (GRCm39) Q737K possibly damaging Het
Scyl2 T C 10: 89,505,549 (GRCm39) H98R probably damaging Het
Secisbp2 A C 13: 51,831,290 (GRCm39) Q575H probably benign Het
Slc9a5 A T 8: 106,084,268 (GRCm39) H497L probably benign Het
Sufu T A 19: 46,464,027 (GRCm39) V414E probably damaging Het
Tbc1d22b A T 17: 29,818,843 (GRCm39) E399V probably damaging Het
Tcp10c G A 17: 13,576,196 (GRCm39) V59I probably benign Het
Tdpoz3 T C 3: 93,734,368 (GRCm39) S348P probably benign Het
Tmem219 A T 7: 126,490,928 (GRCm39) F176L probably damaging Het
Trav6-2 A G 14: 52,905,291 (GRCm39) D104G probably damaging Het
Uba7 A G 9: 107,860,538 (GRCm39) K927R probably benign Het
Vps54 T G 11: 21,221,720 (GRCm39) D158E probably benign Het
Xpnpep1 C T 19: 53,000,196 (GRCm39) probably null Het
Xpo7 G A 14: 70,942,146 (GRCm39) R73W probably damaging Het
Zfp532 A T 18: 65,815,969 (GRCm39) M781L probably benign Het
Zfp930 T A 8: 69,681,193 (GRCm39) I295K probably benign Het
Other mutations in Adamts9
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- CTGCTGAGCATTACACATTCTC -3'
(R):5'- TGACAGGAATGTATGACTTGCC -3'

Sequencing Primer
(F):5'- GCTGAGCATTACACATTCTCTAAGG -3'
(R):5'- GGAATGTATGACTTGCCATTTTATG -3'
Posted On 2019-05-15