Incidental Mutation 'R7419:Adamts12'
ID 575567
Institutional Source Beutler Lab
Gene Symbol Adamts12
Ensembl Gene ENSMUSG00000047497
Gene Name ADAM metallopeptidase with thrombospondin type 1 motif 12
Synonyms
MMRRC Submission 045497-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # R7419 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 11064876-11349317 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 11317365 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 1355 (T1355I)
Ref Sequence ENSEMBL: ENSMUSP00000057796 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061318]
AlphaFold Q811B3
Predicted Effect probably benign
Transcript: ENSMUST00000061318
AA Change: T1355I

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000057796
Gene: ENSMUSG00000047497
AA Change: T1355I

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Pfam:Pep_M12B_propep 53 197 5.5e-30 PFAM
low complexity region 236 245 N/A INTRINSIC
Pfam:Reprolysin_5 248 438 1.6e-14 PFAM
Pfam:Reprolysin_4 248 453 6.7e-8 PFAM
Pfam:Reprolysin 250 460 1.2e-27 PFAM
Pfam:Reprolysin_2 268 450 5.5e-11 PFAM
Pfam:Reprolysin_3 272 407 3.5e-10 PFAM
TSP1 549 601 9.29e-14 SMART
Pfam:ADAM_spacer1 706 817 4.8e-36 PFAM
TSP1 831 887 4.66e-5 SMART
TSP1 890 949 2.54e-1 SMART
TSP1 951 1001 8.95e-7 SMART
low complexity region 1032 1047 N/A INTRINSIC
low complexity region 1130 1141 N/A INTRINSIC
TSP1 1321 1371 2.22e-2 SMART
TSP1 1372 1431 9.97e-2 SMART
TSP1 1432 1479 1.19e-2 SMART
TSP1 1480 1538 2.63e-4 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 99% (93/94)
MGI Phenotype FUNCTION: This gene encodes a member of "a disintegrin and metalloproteinase with thrombospondin motifs" (ADAMTS) family of multi-domain matrix-associated metalloendopeptidases that have diverse roles in tissue morphogenesis and pathophysiological remodeling, in inflammation and in vascular biology. The encoded preproprotein undergoes proteolytic processing to generate an active protease. Mice lacking the encoded protein exhibit increased angiogenic response and tumor invasion in different models of angiogenesis and, severe inflammation and delayed recovery when subjected to experimental conditions that induce colitis, endotoxic sepsis and pancreatitis. [provided by RefSeq, Jul 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased tumor vascularization, tumor invasion, and angiogenesis. [provided by MGI curators]
Allele List at MGI

All alleles(1) : Targeted, knock-out(1)

Other mutations in this stock
Total: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,226,959 (GRCm39) S572P probably damaging Het
Abca13 T C 11: 9,247,833 (GRCm39) Y2527H probably damaging Het
Abcc5 A G 16: 20,241,173 (GRCm39) I4T possibly damaging Het
Aloxe3 A G 11: 69,018,353 (GRCm39) T117A probably benign Het
Asb15 A G 6: 24,556,555 (GRCm39) I17V probably benign Het
Atf2 A G 2: 73,672,777 (GRCm39) V194A probably benign Het
Capn7 T C 14: 31,071,779 (GRCm39) V221A probably benign Het
Ccdc107 A T 4: 43,493,512 (GRCm39) S28C probably benign Het
Cct4 C T 11: 22,946,420 (GRCm39) T162I probably benign Het
Cdc40 A T 10: 40,717,439 (GRCm39) H417Q probably damaging Het
Celf1 A G 2: 90,833,588 (GRCm39) I115V probably benign Het
Ces3a A G 8: 105,783,056 (GRCm39) Y395C probably damaging Het
Cfh C A 1: 140,033,204 (GRCm39) C798F probably damaging Het
Clstn3 T C 6: 124,435,088 (GRCm39) T313A probably benign Het
Crmp1 T A 5: 37,436,229 (GRCm39) M329K probably benign Het
Csf2ra C T 19: 61,215,491 (GRCm39) A76T possibly damaging Het
Cspg4 T A 9: 56,795,727 (GRCm39) V1154E possibly damaging Het
Cyp2a4 A T 7: 26,014,188 (GRCm39) N455I probably benign Het
Cyp4a32 T G 4: 115,468,234 (GRCm39) M268R probably benign Het
Dcaf13 T A 15: 38,993,615 (GRCm39) I236N probably damaging Het
Dennd2a A G 6: 39,500,397 (GRCm39) I56T probably damaging Het
Eif2d T A 1: 131,098,793 (GRCm39) S530R probably benign Het
Ep300 T A 15: 81,532,715 (GRCm39) M1651K unknown Het
Epha3 G A 16: 63,418,657 (GRCm39) T596I probably damaging Het
Fam171a2 C T 11: 102,329,628 (GRCm39) C377Y possibly damaging Het
Fat4 T A 3: 39,054,385 (GRCm39) N4142K probably damaging Het
Galnt5 C A 2: 57,904,937 (GRCm39) S500Y probably damaging Het
Gas6 A G 8: 13,521,456 (GRCm39) V431A probably benign Het
Gm7544 C T 1: 82,933,502 (GRCm39) C56Y unknown Het
Golgb1 T A 16: 36,733,281 (GRCm39) L884I possibly damaging Het
Gpatch2l T G 12: 86,312,025 (GRCm39) probably null Het
Gpr33 T C 12: 52,070,050 (GRCm39) T330A probably benign Het
H2bw2 G A X: 135,828,471 (GRCm39) R120K unknown Het
Ifi205 A G 1: 173,855,874 (GRCm39) M52T possibly damaging Het
Ino80 A T 2: 119,210,495 (GRCm39) D1346E probably benign Het
Ino80c T C 18: 24,241,836 (GRCm39) K183R unknown Het
Itgal G T 7: 126,906,047 (GRCm39) R379L probably benign Het
Itih3 T A 14: 30,636,730 (GRCm39) T582S probably benign Het
Kcnb2 T C 1: 15,781,251 (GRCm39) S708P possibly damaging Het
Kcnt1 A T 2: 25,806,011 (GRCm39) Y1200F probably benign Het
L3mbtl4 G A 17: 68,948,537 (GRCm39) D473N probably benign Het
Lama1 T G 17: 68,024,169 (GRCm39) I89R Het
Lama2 A G 10: 27,142,630 (GRCm39) I616T probably benign Het
Lipm A C 19: 34,093,881 (GRCm39) D266A probably benign Het
Lrrc4c A T 2: 97,460,106 (GRCm39) H244L probably benign Het
Lrrtm3 T C 10: 63,923,925 (GRCm39) E414G probably damaging Het
Ltbp4 A G 7: 27,029,192 (GRCm39) V231A unknown Het
Me3 G T 7: 89,385,927 (GRCm39) R92L probably damaging Het
Mroh7 T G 4: 106,541,115 (GRCm39) I1175L probably benign Het
Muc16 A G 9: 18,553,258 (GRCm39) M4345T probably benign Het
Mug2 A G 6: 122,017,529 (GRCm39) Y422C possibly damaging Het
N6amt1 T G 16: 87,164,454 (GRCm39) S214A possibly damaging Het
Ogfrl1 G A 1: 23,422,063 (GRCm39) Q24* probably null Het
Or12e14 A T 2: 87,677,406 (GRCm39) T264S probably benign Het
Or1ad6 T A 11: 50,860,152 (GRCm39) Y102* probably null Het
Or2ag2b T C 7: 106,417,551 (GRCm39) L87P possibly damaging Het
Or4f14 G A 2: 111,742,435 (GRCm39) P280L probably damaging Het
Or4k6 A C 14: 50,475,448 (GRCm39) V298G possibly damaging Het
Or4x13 A G 2: 90,231,803 (GRCm39) D266G probably damaging Het
Or6b6 A G 7: 106,571,353 (GRCm39) M66T probably benign Het
Or7g23 A C 9: 19,086,642 (GRCm39) M110R possibly damaging Het
Or8g23 T A 9: 38,971,465 (GRCm39) I166L probably benign Het
Or8k3 C T 2: 86,058,557 (GRCm39) G253R probably damaging Het
Oser1 A T 2: 163,253,364 (GRCm39) D48E probably benign Het
Piwil4 G A 9: 14,613,691 (GRCm39) P867L probably damaging Het
Pla2g6 C T 15: 79,189,898 (GRCm39) probably null Het
Plxna1 A G 6: 89,334,584 (GRCm39) L15P unknown Het
Ppan C T 9: 20,803,140 (GRCm39) T404I probably benign Het
Pros1 C A 16: 62,748,433 (GRCm39) Y635* probably null Het
Rabep2 G A 7: 126,043,342 (GRCm39) R414Q probably benign Het
Rbms3 T A 9: 116,651,894 (GRCm39) E201V probably damaging Het
Robo4 A C 9: 37,314,105 (GRCm39) I119L probably benign Het
S100b A T 10: 76,095,820 (GRCm39) D66V probably damaging Het
Serpina1f A G 12: 103,656,101 (GRCm39) S376P probably damaging Het
Slc24a4 T C 12: 102,193,350 (GRCm39) probably null Het
Slc30a6 T C 17: 74,730,424 (GRCm39) V438A probably benign Het
Sobp A G 10: 42,897,804 (GRCm39) S594P probably benign Het
Tcstv1b A G 13: 120,634,994 (GRCm39) E92G probably damaging Het
Tmem45b T C 9: 31,339,334 (GRCm39) D213G probably benign Het
Topbp1 T A 9: 103,200,543 (GRCm39) D525E probably benign Het
Trim30c G T 7: 104,037,472 (GRCm39) L165I probably benign Het
Unc13b A T 4: 43,174,023 (GRCm39) D1617V unknown Het
Ush1c A G 7: 45,878,679 (GRCm39) L112P probably damaging Het
Vipr1 T A 9: 121,490,539 (GRCm39) I195N probably damaging Het
Vmn2r38 A C 7: 9,078,354 (GRCm39) V676G probably damaging Het
Vmn2r87 A T 10: 130,307,992 (GRCm39) Y749N probably damaging Het
Vps13d A T 4: 144,842,073 (GRCm39) S2615R Het
Whrn A G 4: 63,334,330 (GRCm39) V828A possibly damaging Het
Zbp1 A G 2: 173,050,958 (GRCm39) V304A probably benign Het
Zeb2 A T 2: 44,886,359 (GRCm39) N899K probably benign Het
Zfp148 T C 16: 33,317,511 (GRCm39) S728P possibly damaging Het
Zfp518a T A 19: 40,902,207 (GRCm39) I712N possibly damaging Het
Zfp683 T C 4: 133,786,211 (GRCm39) V446A probably benign Het
Zranb3 A T 1: 127,891,588 (GRCm39) V796D possibly damaging Het
Other mutations in Adamts12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00229:Adamts12 APN 15 11,311,685 (GRCm39) missense probably benign 0.00
IGL00513:Adamts12 APN 15 11,257,047 (GRCm39) missense probably benign 0.28
IGL00579:Adamts12 APN 15 11,152,100 (GRCm39) missense probably benign 0.20
IGL00984:Adamts12 APN 15 11,215,696 (GRCm39) missense probably benign 0.01
IGL01307:Adamts12 APN 15 11,237,632 (GRCm39) missense possibly damaging 0.88
IGL01314:Adamts12 APN 15 11,071,939 (GRCm39) missense probably benign 0.30
IGL01353:Adamts12 APN 15 11,292,091 (GRCm39) splice site probably benign
IGL01373:Adamts12 APN 15 11,310,816 (GRCm39) missense probably benign 0.00
IGL01522:Adamts12 APN 15 11,065,245 (GRCm39) critical splice donor site probably null
IGL01589:Adamts12 APN 15 11,311,323 (GRCm39) missense probably benign 0.26
IGL01715:Adamts12 APN 15 11,258,182 (GRCm39) missense possibly damaging 0.47
IGL01966:Adamts12 APN 15 11,258,269 (GRCm39) missense probably damaging 0.98
IGL01994:Adamts12 APN 15 11,345,680 (GRCm39) missense probably damaging 1.00
IGL02058:Adamts12 APN 15 11,215,696 (GRCm39) missense probably benign 0.01
IGL02216:Adamts12 APN 15 11,241,571 (GRCm39) missense possibly damaging 0.63
IGL02252:Adamts12 APN 15 11,311,101 (GRCm39) missense probably benign 0.01
IGL02336:Adamts12 APN 15 11,311,331 (GRCm39) missense probably benign 0.02
IGL02445:Adamts12 APN 15 11,286,798 (GRCm39) missense probably damaging 1.00
IGL03115:Adamts12 APN 15 11,263,422 (GRCm39) missense probably damaging 1.00
IGL03131:Adamts12 APN 15 11,345,650 (GRCm39) missense probably damaging 1.00
IGL03161:Adamts12 APN 15 11,292,168 (GRCm39) missense possibly damaging 0.93
IGL03403:Adamts12 APN 15 11,241,574 (GRCm39) missense probably damaging 1.00
I2289:Adamts12 UTSW 15 11,071,894 (GRCm39) missense probably benign 0.13
PIT4677001:Adamts12 UTSW 15 11,286,896 (GRCm39) missense probably benign 0.33
R0016:Adamts12 UTSW 15 11,217,915 (GRCm39) missense probably damaging 1.00
R0016:Adamts12 UTSW 15 11,217,915 (GRCm39) missense probably damaging 1.00
R0027:Adamts12 UTSW 15 11,285,959 (GRCm39) missense probably damaging 0.99
R0027:Adamts12 UTSW 15 11,285,959 (GRCm39) missense probably damaging 0.99
R0028:Adamts12 UTSW 15 11,215,710 (GRCm39) missense probably damaging 1.00
R0108:Adamts12 UTSW 15 11,311,184 (GRCm39) missense probably benign 0.08
R0108:Adamts12 UTSW 15 11,311,184 (GRCm39) missense probably benign 0.08
R0122:Adamts12 UTSW 15 11,215,710 (GRCm39) missense probably damaging 1.00
R0196:Adamts12 UTSW 15 11,071,594 (GRCm39) missense probably benign 0.11
R0308:Adamts12 UTSW 15 11,311,646 (GRCm39) missense probably damaging 0.98
R0335:Adamts12 UTSW 15 11,311,144 (GRCm39) missense possibly damaging 0.95
R0667:Adamts12 UTSW 15 11,215,710 (GRCm39) missense probably damaging 1.00
R0729:Adamts12 UTSW 15 11,255,769 (GRCm39) missense possibly damaging 0.91
R1162:Adamts12 UTSW 15 11,277,544 (GRCm39) critical splice donor site probably null
R1173:Adamts12 UTSW 15 11,071,843 (GRCm39) missense probably benign
R1174:Adamts12 UTSW 15 11,071,843 (GRCm39) missense probably benign
R1319:Adamts12 UTSW 15 11,286,877 (GRCm39) missense probably benign 0.02
R1344:Adamts12 UTSW 15 11,286,890 (GRCm39) missense probably damaging 1.00
R1367:Adamts12 UTSW 15 11,256,980 (GRCm39) splice site probably benign
R1396:Adamts12 UTSW 15 11,311,558 (GRCm39) missense probably benign 0.01
R1418:Adamts12 UTSW 15 11,286,890 (GRCm39) missense probably damaging 1.00
R1447:Adamts12 UTSW 15 11,263,447 (GRCm39) missense probably benign 0.42
R1466:Adamts12 UTSW 15 11,311,445 (GRCm39) missense probably benign
R1466:Adamts12 UTSW 15 11,311,445 (GRCm39) missense probably benign
R1599:Adamts12 UTSW 15 11,071,797 (GRCm39) missense probably damaging 0.99
R1700:Adamts12 UTSW 15 11,152,143 (GRCm39) missense probably benign 0.00
R1748:Adamts12 UTSW 15 11,241,548 (GRCm39) missense probably damaging 0.99
R1826:Adamts12 UTSW 15 11,071,606 (GRCm39) missense probably benign 0.06
R1870:Adamts12 UTSW 15 11,311,240 (GRCm39) missense probably benign 0.06
R1871:Adamts12 UTSW 15 11,311,240 (GRCm39) missense probably benign 0.06
R1872:Adamts12 UTSW 15 11,217,966 (GRCm39) nonsense probably null
R1931:Adamts12 UTSW 15 11,270,685 (GRCm39) missense probably benign 0.00
R2041:Adamts12 UTSW 15 11,215,821 (GRCm39) missense probably damaging 1.00
R2119:Adamts12 UTSW 15 11,310,665 (GRCm39) missense probably damaging 1.00
R2120:Adamts12 UTSW 15 11,310,665 (GRCm39) missense probably damaging 1.00
R2122:Adamts12 UTSW 15 11,310,665 (GRCm39) missense probably damaging 1.00
R2161:Adamts12 UTSW 15 11,215,821 (GRCm39) missense probably damaging 0.99
R2655:Adamts12 UTSW 15 11,065,174 (GRCm39) missense possibly damaging 0.50
R4010:Adamts12 UTSW 15 11,286,169 (GRCm39) missense possibly damaging 0.69
R4208:Adamts12 UTSW 15 11,071,840 (GRCm39) missense probably benign
R4666:Adamts12 UTSW 15 11,311,578 (GRCm39) missense probably benign 0.08
R4731:Adamts12 UTSW 15 11,270,748 (GRCm39) missense probably damaging 1.00
R4732:Adamts12 UTSW 15 11,270,748 (GRCm39) missense probably damaging 1.00
R4733:Adamts12 UTSW 15 11,270,748 (GRCm39) missense probably damaging 1.00
R4766:Adamts12 UTSW 15 11,285,987 (GRCm39) missense probably benign 0.03
R4877:Adamts12 UTSW 15 11,327,787 (GRCm39) missense probably damaging 1.00
R4929:Adamts12 UTSW 15 11,259,108 (GRCm39) missense probably damaging 0.96
R5060:Adamts12 UTSW 15 11,300,054 (GRCm39) missense probably damaging 1.00
R5145:Adamts12 UTSW 15 11,285,962 (GRCm39) missense probably damaging 1.00
R5191:Adamts12 UTSW 15 11,327,843 (GRCm39) missense probably benign 0.18
R5492:Adamts12 UTSW 15 11,336,384 (GRCm39) missense probably benign 0.05
R5580:Adamts12 UTSW 15 11,152,086 (GRCm39) missense probably benign 0.14
R5645:Adamts12 UTSW 15 11,277,506 (GRCm39) missense possibly damaging 0.92
R5724:Adamts12 UTSW 15 11,286,836 (GRCm39) missense probably benign 0.15
R6240:Adamts12 UTSW 15 11,286,044 (GRCm39) missense probably benign 0.44
R6331:Adamts12 UTSW 15 11,241,519 (GRCm39) missense probably damaging 1.00
R6381:Adamts12 UTSW 15 11,257,080 (GRCm39) missense possibly damaging 0.93
R6393:Adamts12 UTSW 15 11,255,721 (GRCm39) missense probably damaging 0.97
R6419:Adamts12 UTSW 15 11,215,759 (GRCm39) missense possibly damaging 0.72
R6571:Adamts12 UTSW 15 11,065,187 (GRCm39) missense probably benign 0.00
R6821:Adamts12 UTSW 15 11,152,134 (GRCm39) missense probably benign 0.14
R6913:Adamts12 UTSW 15 11,215,778 (GRCm39) missense probably damaging 1.00
R6973:Adamts12 UTSW 15 11,331,866 (GRCm39) nonsense probably null
R7188:Adamts12 UTSW 15 11,336,411 (GRCm39) nonsense probably null
R7290:Adamts12 UTSW 15 11,277,452 (GRCm39) missense probably benign 0.08
R7307:Adamts12 UTSW 15 11,217,899 (GRCm39) missense probably damaging 1.00
R7376:Adamts12 UTSW 15 11,277,425 (GRCm39) missense possibly damaging 0.69
R7484:Adamts12 UTSW 15 11,345,734 (GRCm39) missense probably benign 0.25
R7562:Adamts12 UTSW 15 11,270,697 (GRCm39) missense probably benign 0.01
R7653:Adamts12 UTSW 15 11,257,115 (GRCm39) missense probably benign 0.28
R7696:Adamts12 UTSW 15 11,258,224 (GRCm39) missense probably damaging 1.00
R7957:Adamts12 UTSW 15 11,317,298 (GRCm39) missense possibly damaging 0.96
R7980:Adamts12 UTSW 15 11,263,423 (GRCm39) missense probably damaging 1.00
R7992:Adamts12 UTSW 15 11,310,904 (GRCm39) missense probably benign
R8032:Adamts12 UTSW 15 11,259,189 (GRCm39) critical splice donor site probably null
R8109:Adamts12 UTSW 15 11,331,877 (GRCm39) missense probably benign 0.02
R8402:Adamts12 UTSW 15 11,263,376 (GRCm39) missense probably damaging 0.96
R8751:Adamts12 UTSW 15 11,215,813 (GRCm39) missense probably damaging 1.00
R8782:Adamts12 UTSW 15 11,237,678 (GRCm39) missense probably damaging 1.00
R8934:Adamts12 UTSW 15 11,300,015 (GRCm39) missense probably damaging 0.99
R8952:Adamts12 UTSW 15 11,286,065 (GRCm39) missense probably damaging 1.00
R8963:Adamts12 UTSW 15 11,317,443 (GRCm39) critical splice donor site probably null
R9042:Adamts12 UTSW 15 11,152,134 (GRCm39) missense probably benign 0.08
R9162:Adamts12 UTSW 15 11,311,721 (GRCm39) missense probably benign 0.29
R9190:Adamts12 UTSW 15 11,336,446 (GRCm39) missense probably benign 0.02
R9700:Adamts12 UTSW 15 11,311,442 (GRCm39) missense probably benign 0.04
R9748:Adamts12 UTSW 15 11,310,628 (GRCm39) missense probably damaging 0.99
V1662:Adamts12 UTSW 15 11,071,894 (GRCm39) missense probably benign 0.13
X0022:Adamts12 UTSW 15 11,277,534 (GRCm39) missense probably benign 0.30
Z1176:Adamts12 UTSW 15 11,336,469 (GRCm39) missense not run
Z1177:Adamts12 UTSW 15 11,336,469 (GRCm39) missense not run
Z1177:Adamts12 UTSW 15 11,317,410 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACAGGAAACCTTTGTCTGTGTG -3'
(R):5'- AACGTTCAAGACAGTGATGACAC -3'

Sequencing Primer
(F):5'- GAAACCTTTGTCTGTGTGTGCCC -3'
(R):5'- GTGATGACACACAGGTAAAGTTTTAC -3'
Posted On 2019-10-07