Incidental Mutation 'R4574:Adamts9'
ID 342332
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 041797-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4574 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 92749680-92920473 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 92856940 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 319 (R319*)
Ref Sequence ENSEMBL: ENSMUSP00000126498 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113434] [ENSMUST00000113438] [ENSMUST00000167391]
AlphaFold E9PUN6
Predicted Effect probably benign
Transcript: ENSMUST00000113434
Predicted Effect probably null
Transcript: ENSMUST00000113438
AA Change: R900*
SMART Domains Protein: ENSMUSP00000109065
Gene: ENSMUSG00000030022
AA Change: R900*

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 null
Transcript: ENSMUST00000167391
AA Change: R319*
SMART Domains Protein: ENSMUSP00000126498
Gene: ENSMUSG00000030022
AA Change: R319*

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
Meta Mutation Damage Score 0.9754 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam1b A C 5: 121,638,856 (GRCm39) S730A probably benign Het
Anapc1 G T 2: 128,469,115 (GRCm39) S1575R probably damaging Het
Appbp2 A T 11: 85,100,764 (GRCm39) probably null Het
Bcas2 C T 3: 103,081,666 (GRCm39) P90S probably benign Het
Carmil3 GGACGA GGA 14: 55,736,933 (GRCm39) probably benign Het
Cd101 T C 3: 100,920,469 (GRCm39) N477D probably benign Het
Cdk12 A G 11: 98,111,814 (GRCm39) probably benign Het
Clcn4 T C 7: 7,290,804 (GRCm39) E634G probably benign Het
Cltb C T 13: 54,746,574 (GRCm39) R64H probably damaging Het
Cpt1b G T 15: 89,308,247 (GRCm39) probably null Het
Ctf2 T G 7: 127,318,556 (GRCm39) T148P possibly damaging Het
Ddx23 G A 15: 98,545,505 (GRCm39) T601I probably damaging Het
Dlx6 G T 6: 6,865,305 (GRCm39) probably benign Het
Dmrtb1 A T 4: 107,534,265 (GRCm39) N183K possibly damaging Het
Dnah11 A G 12: 117,975,990 (GRCm39) probably null Het
Dnah5 C T 15: 28,367,909 (GRCm39) P2765S probably benign Het
Dnah6 T A 6: 73,063,164 (GRCm39) N2698I probably damaging Het
Fpr-rs6 T A 17: 20,403,359 (GRCm39) M1L probably damaging Het
Gm4841 T C 18: 60,402,998 (GRCm39) N365S probably benign Het
Gsdmc2 C T 15: 63,699,872 (GRCm39) probably null Het
Irx5 G A 8: 93,084,890 (GRCm39) V27I probably damaging Het
Kmt2e T A 5: 23,697,405 (GRCm39) V101D possibly damaging Het
Maip1 A C 1: 57,452,404 (GRCm39) K219Q possibly damaging Het
Mpp7 G T 18: 7,353,228 (GRCm39) R493S probably benign Het
Ms4a14 T C 19: 11,281,335 (GRCm39) T408A probably benign Het
Mthfr A G 4: 148,127,998 (GRCm39) N117S possibly damaging Het
Mtres1 T A 10: 43,409,006 (GRCm39) S46C probably damaging Het
Myo5c A G 9: 75,176,893 (GRCm39) I613V probably benign Het
Neurl1b A G 17: 26,650,860 (GRCm39) Q44R probably benign Het
Nup54 T A 5: 92,573,641 (GRCm39) N187I probably benign Het
Ofcc1 G A 13: 40,168,864 (GRCm39) T841I probably damaging Het
Or5ak22 C A 2: 85,230,370 (GRCm39) C169F probably damaging Het
Pate2 C A 9: 35,596,969 (GRCm39) probably benign Het
Pccb T C 9: 100,867,252 (GRCm39) S445G probably damaging Het
Pex3 G A 10: 13,411,315 (GRCm39) Q188* probably null Het
Pikfyve T A 1: 65,231,351 (GRCm39) W74R probably damaging Het
Plcl2 T C 17: 50,914,874 (GRCm39) S628P probably damaging Het
Pnldc1 T C 17: 13,111,669 (GRCm39) H346R probably benign Het
Pom121l2 T A 13: 22,168,572 (GRCm39) C948S probably benign Het
Pspc1 A T 14: 56,999,404 (GRCm39) M284K possibly damaging Het
Ralgapa2 A G 2: 146,277,919 (GRCm39) L414S probably damaging Het
Rgs13 T A 1: 144,016,583 (GRCm39) K53N probably damaging Het
Rorc T C 3: 94,296,291 (GRCm39) S163P probably benign Het
Rpl3l A C 17: 24,952,984 (GRCm39) T315P possibly damaging Het
Rsph3b A G 17: 7,172,438 (GRCm39) V487A probably benign Het
Rusc2 A G 4: 43,416,080 (GRCm39) E462G probably damaging Het
Sez6l T C 5: 112,576,344 (GRCm39) T838A probably damaging Het
Slc22a14 A G 9: 119,008,561 (GRCm39) Y236H probably damaging Het
Sspo G A 6: 48,442,457 (GRCm39) R1984H probably damaging Het
Steap3 G T 1: 120,169,186 (GRCm39) D370E probably benign Het
Sumf1 A G 6: 108,085,393 (GRCm39) probably benign Het
Telo2 T C 17: 25,320,647 (GRCm39) E754G probably damaging Het
Tjp1 A G 7: 64,972,353 (GRCm39) F604L probably damaging Het
Trpm7 A T 2: 126,639,131 (GRCm39) D1734E probably benign Het
Tsfm A C 10: 126,864,242 (GRCm39) Y158D probably damaging Het
Ubtf T C 11: 102,197,591 (GRCm39) probably benign Het
Upk3a G T 15: 84,904,752 (GRCm39) V167F possibly damaging Het
Vmn2r19 C T 6: 123,292,939 (GRCm39) S327L probably benign Het
Vps13c T A 9: 67,858,965 (GRCm39) I2805N probably damaging Het
Zfp592 A G 7: 80,673,534 (GRCm39) D166G possibly damaging 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
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'- GACTGGCAACTCTTGTCTCC -3'
(R):5'- CTATCATGTGGCTTTACGGGTC -3'

Sequencing Primer
(F):5'- GGCAACTCTTGTCTCCATCGC -3'
(R):5'- TAGCAGTCTGTCTATGGCCAGC -3'
Posted On 2015-09-24