Incidental Mutation 'R6192:Adamts9'
ID 502643
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 044332-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6192 (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 C at 92774002 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 1137 (E1137G)
Ref Sequence ENSEMBL: ENSMUSP00000126498 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113438] [ENSMUST00000167391]
AlphaFold E9PUN6
Predicted Effect probably benign
Transcript: ENSMUST00000113438
AA Change: E1718G

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000109065
Gene: ENSMUSG00000030022
AA Change: E1718G

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 noncoding transcript
Transcript: ENSMUST00000125490
Predicted Effect probably damaging
Transcript: ENSMUST00000167391
AA Change: E1137G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126498
Gene: ENSMUSG00000030022
AA Change: E1137G

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: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (75/75)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy9 T C 16: 4,105,818 (GRCm39) I1099V probably benign Het
Angptl4 A T 17: 33,996,015 (GRCm39) N320K probably benign Het
Atp6v0a2 G A 5: 124,767,268 (GRCm39) M10I probably benign Het
Bltp1 C T 3: 37,042,318 (GRCm39) T2768I probably benign Het
Cbfa2t3 A G 8: 123,361,135 (GRCm39) S395P probably benign Het
Cenpe C T 3: 134,954,291 (GRCm39) T1716I possibly damaging Het
Chsy1 T C 7: 65,820,625 (GRCm39) Y287H probably benign Het
Col4a4 G T 1: 82,462,151 (GRCm39) P1075T probably damaging Het
Cryab T A 9: 50,665,813 (GRCm39) M68K probably damaging Het
Cybrd1 T A 2: 70,967,858 (GRCm39) L143Q probably null Het
Dcaf7 T C 11: 105,942,584 (GRCm39) V177A probably damaging Het
Dclk2 T C 3: 86,722,457 (GRCm39) Y392C probably damaging Het
Ddx20 T C 3: 105,586,036 (GRCm39) T770A probably benign Het
Dennd1b T A 1: 139,095,456 (GRCm39) D501E probably benign Het
Dgkh A T 14: 78,865,504 (GRCm39) Y26* probably null Het
Dnajc2 A G 5: 21,973,646 (GRCm39) V196A probably damaging Het
Etl4 A G 2: 20,806,362 (GRCm39) K827E probably damaging Het
Fam8a1 C T 13: 46,823,099 (GRCm39) P13L probably damaging Het
Gfra3 T C 18: 34,837,582 (GRCm39) S139G possibly damaging Het
Ggnbp1 G A 17: 27,248,847 (GRCm39) V139I possibly damaging Het
Gja1 T A 10: 56,264,330 (GRCm39) Y230N probably damaging Het
Gldc A G 19: 30,111,172 (GRCm39) S535P probably damaging Het
Gm45871 A G 18: 90,610,357 (GRCm39) T532A probably benign Het
Gm5431 T A 11: 48,785,220 (GRCm39) D107V probably benign Het
Herc2 C T 7: 55,857,510 (GRCm39) T4031M probably damaging Het
Iffo2 G A 4: 139,333,769 (GRCm39) A282T probably damaging Het
Ifi44 T G 3: 151,451,276 (GRCm39) probably null Het
Igkv4-53 C T 6: 69,625,915 (GRCm39) R62H possibly damaging Het
Lrp11 A C 10: 7,474,454 (GRCm39) probably null Het
Lrp4 A G 2: 91,338,833 (GRCm39) T1755A probably benign Het
Mcm3ap A T 10: 76,336,934 (GRCm39) K1316M probably damaging Het
Mctp1 T G 13: 76,971,082 (GRCm39) probably null Het
Mroh5 A T 15: 73,662,630 (GRCm39) I396N probably damaging Het
Mrps5 T A 2: 127,443,305 (GRCm39) H294Q probably damaging Het
Muc16 A T 9: 18,569,985 (GRCm39) S845T unknown Het
Mycbpap A T 11: 94,398,557 (GRCm39) V474E probably damaging Het
Mzt2 G C 16: 15,666,551 (GRCm39) S122W probably benign Het
Neb T C 2: 52,146,802 (GRCm39) I2821V probably benign Het
Ngef A T 1: 87,415,622 (GRCm39) D347E probably damaging Het
Nlrp14 T C 7: 106,781,646 (GRCm39) V281A probably benign Het
Obscn A T 11: 58,888,864 (GRCm39) Y7597N unknown Het
Or4k47 T C 2: 111,451,520 (GRCm39) R300G possibly damaging Het
Patj G T 4: 98,344,394 (GRCm39) G569W probably damaging Het
Pdzrn4 A T 15: 92,655,562 (GRCm39) E485V probably damaging Het
Phf2 T A 13: 48,973,583 (GRCm39) T361S unknown Het
Pik3r6 A G 11: 68,434,455 (GRCm39) E552G probably damaging Het
Pitx2 A G 3: 129,009,521 (GRCm39) T147A probably benign Het
Pkmyt1 G A 17: 23,953,167 (GRCm39) G241D probably damaging Het
Pola2 A T 19: 6,003,802 (GRCm39) V191D possibly damaging Het
Ralgapb T A 2: 158,291,367 (GRCm39) probably null Het
Rapgef4 T C 2: 71,811,661 (GRCm39) S11P probably benign Het
Rnf10 G A 5: 115,395,136 (GRCm39) R151C probably damaging Het
Rpl34 G A 3: 130,522,716 (GRCm39) P50L probably benign Het
Rptn C G 3: 93,305,437 (GRCm39) H923Q possibly damaging Het
Sbno2 A T 10: 79,895,850 (GRCm39) L977Q probably damaging Het
Sec14l3 G A 11: 4,025,566 (GRCm39) probably null Het
Serping1 A T 2: 84,600,612 (GRCm39) N243K possibly damaging Het
Slco2b1 T A 7: 99,334,779 (GRCm39) I231F probably damaging Het
Spag8 A G 4: 43,652,458 (GRCm39) F294S probably damaging Het
Speer4f1 G A 5: 17,684,493 (GRCm39) A174T probably damaging Het
Spred3 T C 7: 28,862,402 (GRCm39) D147G probably benign Het
Stard9 A G 2: 120,527,241 (GRCm39) D1166G probably damaging Het
Svep1 G T 4: 58,104,536 (GRCm39) T1229K possibly damaging Het
Tanc1 T A 2: 59,669,305 (GRCm39) probably null Het
Tmem232 T C 17: 65,737,800 (GRCm39) Y420C probably damaging Het
Tubd1 A T 11: 86,448,619 (GRCm39) M311L probably benign Het
Tulp3 G A 6: 128,332,703 (GRCm39) probably null Het
Usp42 T C 5: 143,702,942 (GRCm39) T560A possibly damaging Het
Vmn1r170 A T 7: 23,305,934 (GRCm39) Y112F probably damaging Het
Vmn2r4 A T 3: 64,322,699 (GRCm39) C7S probably benign Het
Wrn A G 8: 33,774,682 (GRCm39) M652T probably benign Het
Wsb1 G A 11: 79,139,336 (GRCm39) P120L possibly damaging Het
Zfp142 T C 1: 74,609,667 (GRCm39) E1376G probably damaging Het
Zfp709 TCGACG TCG 8: 72,644,552 (GRCm39) 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
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'- ATACAAGTGCGGGCATCCAC -3'
(R):5'- TACAGTAAGGCCCATGTGTATCAATG -3'

Sequencing Primer
(F):5'- GGGCATCCACCTCCCACATC -3'
(R):5'- CAGGACTCCGAGCTTCATGTC -3'
Posted On 2018-02-27