Incidental Mutation 'R0362:Adamts6'
ID 36286
Institutional Source Beutler Lab
Gene Symbol Adamts6
Ensembl Gene ENSMUSG00000046169
Gene Name ADAM metallopeptidase with thrombospondin type 1 motif 6
Synonyms b2b2029Clo, b2b2182Clo, b2b2187.1Clo, b2b1879.1Clo, A930019D11Rik, ADAM-TS6, b2b2228Clo
MMRRC Submission 038568-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.831) question?
Stock # R0362 (G1)
Quality Score 214
Status Validated
Chromosome 13
Chromosomal Location 104424343-104633203 bp(+) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) A to G at 104526584 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000153359 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065766] [ENSMUST00000065766] [ENSMUST00000223562] [ENSMUST00000224208] [ENSMUST00000224208] [ENSMUST00000224303] [ENSMUST00000224742] [ENSMUST00000224784]
AlphaFold D3Z1A5
Predicted Effect probably null
Transcript: ENSMUST00000065766
SMART Domains Protein: ENSMUSP00000064570
Gene: ENSMUSG00000046169

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Pfam:Pep_M12B_propep 43 191 4.2e-40 PFAM
Pfam:Reprolysin_5 248 443 3.8e-17 PFAM
Pfam:Reprolysin_4 248 464 4.9e-12 PFAM
Pfam:Reprolysin 250 468 1.6e-27 PFAM
Pfam:Reprolysin_2 268 458 5.6e-15 PFAM
Pfam:Reprolysin_3 272 414 2.6e-14 PFAM
TSP1 561 613 3.98e-13 SMART
Pfam:ADAM_spacer1 717 829 2.9e-41 PFAM
TSP1 843 900 2.49e-5 SMART
TSP1 902 960 2.87e-5 SMART
TSP1 963 1018 1.36e-1 SMART
TSP1 1021 1069 2.36e-6 SMART
Pfam:PLAC 1083 1115 3.9e-12 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000065766
SMART Domains Protein: ENSMUSP00000064570
Gene: ENSMUSG00000046169

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Pfam:Pep_M12B_propep 43 191 4.2e-40 PFAM
Pfam:Reprolysin_5 248 443 3.8e-17 PFAM
Pfam:Reprolysin_4 248 464 4.9e-12 PFAM
Pfam:Reprolysin 250 468 1.6e-27 PFAM
Pfam:Reprolysin_2 268 458 5.6e-15 PFAM
Pfam:Reprolysin_3 272 414 2.6e-14 PFAM
TSP1 561 613 3.98e-13 SMART
Pfam:ADAM_spacer1 717 829 2.9e-41 PFAM
TSP1 843 900 2.49e-5 SMART
TSP1 902 960 2.87e-5 SMART
TSP1 963 1018 1.36e-1 SMART
TSP1 1021 1069 2.36e-6 SMART
Pfam:PLAC 1083 1115 3.9e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000223562
Predicted Effect probably null
Transcript: ENSMUST00000224208
Predicted Effect probably null
Transcript: ENSMUST00000224208
Predicted Effect probably benign
Transcript: ENSMUST00000224303
Predicted Effect probably benign
Transcript: ENSMUST00000224742
Predicted Effect probably benign
Transcript: ENSMUST00000224784
Meta Mutation Damage Score 0.9498 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.6%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency 99% (104/105)
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. The encoded preproprotein is proteolytically processed to generate the mature enzyme. Expression of this gene may be regulated by the cytokine TNF-alpha. [provided by RefSeq, Mar 2016]
PHENOTYPE: Mice homozygous for induced mutations exhibit cardiovascular defects including double outlet right ventricle, ventricular septal defects and biventricular hypertrophy, and hydrops, thymus hypoplasia short snout and cleft palate. [provided by MGI curators]
Allele List at MGI

All alleles(1) : Targeted(1)

Other mutations in this stock
Total: 103 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik A G 2: 68,563,261 (GRCm39) Q401R probably benign Het
Acp3 A G 9: 104,191,626 (GRCm39) F220S probably damaging Het
Adam7 A G 14: 68,747,105 (GRCm39) probably benign Het
Ascc3 T C 10: 50,625,051 (GRCm39) probably benign Het
Atg10 T C 13: 91,189,109 (GRCm39) probably null Het
Atm T C 9: 53,370,138 (GRCm39) I2325V possibly damaging Het
Btnl9 C T 11: 49,060,443 (GRCm39) R435H possibly damaging Het
Ccdc180 A G 4: 45,923,551 (GRCm39) K1111E probably damaging Het
Ciao2b T C 8: 105,368,222 (GRCm39) D34G probably null Het
Col11a2 T A 17: 34,281,420 (GRCm39) probably null Het
Ctcfl A G 2: 172,960,236 (GRCm39) W116R probably damaging Het
Ctsk A T 3: 95,408,255 (GRCm39) Y37F probably damaging Het
Daam2 G C 17: 49,787,813 (GRCm39) probably null Het
Dcdc2b T C 4: 129,504,031 (GRCm39) probably null Het
Ddx28 C T 8: 106,737,926 (GRCm39) R44Q probably damaging Het
Dhx29 T A 13: 113,099,393 (GRCm39) N1139K probably benign Het
Dnah17 A T 11: 117,989,365 (GRCm39) M1281K probably benign Het
Dnah6 T C 6: 73,185,592 (GRCm39) S110G probably benign Het
Drc7 T C 8: 95,799,483 (GRCm39) Y553H probably benign Het
Dync2h1 T C 9: 7,005,487 (GRCm39) probably null Het
Ecm1 A G 3: 95,644,369 (GRCm39) I152T possibly damaging Het
Edc4 C G 8: 106,613,407 (GRCm39) P307R probably damaging Het
Eeig2 C T 3: 108,887,497 (GRCm39) E256K probably benign Het
Egr1 A G 18: 34,996,366 (GRCm39) T383A possibly damaging Het
Eml2 A G 7: 18,924,731 (GRCm39) probably null Het
Eno4 A G 19: 58,932,056 (GRCm39) probably benign Het
Erbb4 A T 1: 68,369,429 (GRCm39) I404K probably damaging Het
Exoc7 G T 11: 116,186,488 (GRCm39) T310K probably benign Het
Fam83e G T 7: 45,376,393 (GRCm39) V369L probably benign Het
Fancc A T 13: 63,545,970 (GRCm39) I91K possibly damaging Het
Fbn1 T C 2: 125,151,697 (GRCm39) Q2519R probably damaging Het
Fhod3 T A 18: 25,223,133 (GRCm39) C826* probably null Het
Foxi3 A G 6: 70,933,612 (GRCm39) D33G probably benign Het
Gcn1 T C 5: 115,714,167 (GRCm39) probably benign Het
Gm14221 T C 2: 160,410,310 (GRCm39) noncoding transcript Het
Golga4 T A 9: 118,384,853 (GRCm39) H630Q probably benign Het
Gpat4 T C 8: 23,670,949 (GRCm39) S88G probably benign Het
Gucy2d A T 7: 98,092,892 (GRCm39) S90C probably damaging Het
Has2 A C 15: 56,545,057 (GRCm39) C182G probably damaging Het
Heatr5a A T 12: 51,935,644 (GRCm39) S1647R probably damaging Het
Ifi35 T C 11: 101,348,038 (GRCm39) V48A probably benign Het
Lig1 T A 7: 13,030,730 (GRCm39) probably benign Het
Magi2 A G 5: 19,432,573 (GRCm39) K96R probably damaging Het
Map7d1 G T 4: 126,128,787 (GRCm39) P462Q probably damaging Het
Mdn1 A T 4: 32,746,439 (GRCm39) probably null Het
Mfsd4a A T 1: 131,987,013 (GRCm39) V105E probably damaging Het
Mrpl53 C T 6: 83,086,526 (GRCm39) R77C probably damaging Het
Mtnr1b C T 9: 15,785,600 (GRCm39) V53M probably damaging Het
Myo9b T C 8: 71,800,414 (GRCm39) W990R probably damaging Het
Myt1 A T 2: 181,405,186 (GRCm39) probably benign Het
Nf1 C T 11: 79,427,704 (GRCm39) A1766V probably damaging Het
Nlrp3 T C 11: 59,439,623 (GRCm39) V400A possibly damaging Het
Nup205 T A 6: 35,173,649 (GRCm39) probably null Het
Nxf1 T C 19: 8,741,515 (GRCm39) probably null Het
Or7a36 A T 10: 78,820,220 (GRCm39) M199L probably benign Het
P4hb T C 11: 120,454,162 (GRCm39) K311E probably benign Het
Pafah1b1 T C 11: 74,574,457 (GRCm39) N243S probably benign Het
Parp8 G A 13: 117,061,504 (GRCm39) Q141* probably null Het
Pkd2l2 A C 18: 34,568,380 (GRCm39) D543A probably benign Het
Pld5 A T 1: 175,803,146 (GRCm39) L311* probably null Het
Plekha5 G A 6: 140,537,473 (GRCm39) R646K possibly damaging Het
Plpp5 A T 8: 26,214,219 (GRCm39) T144S probably benign Het
Ppp6r3 A G 19: 3,528,285 (GRCm39) L542S probably damaging Het
Prkar2b A T 12: 32,037,973 (GRCm39) probably null Het
Psmg1 A T 16: 95,789,171 (GRCm39) S129T possibly damaging Het
Radil T C 5: 142,529,582 (GRCm39) D38G probably benign Het
Ric1 T C 19: 29,578,411 (GRCm39) probably null Het
Rp1l1 T A 14: 64,268,515 (GRCm39) L1367* probably null Het
Rxfp1 A T 3: 79,645,100 (GRCm39) M1K probably null Het
Serpina6 G T 12: 103,618,208 (GRCm39) L202I probably damaging Het
Simc1 T C 13: 54,676,280 (GRCm39) I98T probably damaging Het
Slc17a6 A G 7: 51,308,519 (GRCm39) Y281C probably damaging Het
Slc26a11 T A 11: 119,270,767 (GRCm39) probably benign Het
Slc34a1 T A 13: 55,550,711 (GRCm39) probably null Het
Slfn10-ps T A 11: 82,926,600 (GRCm39) noncoding transcript Het
Sohlh2 A G 3: 55,115,163 (GRCm39) N383D probably damaging Het
Spag6 T A 2: 18,715,302 (GRCm39) L27H probably damaging Het
Sptlc3 A G 2: 139,388,475 (GRCm39) probably benign Het
St3gal4 T A 9: 34,964,469 (GRCm39) K199* probably null Het
Stat5a T A 11: 100,772,909 (GRCm39) D712E probably benign Het
Stmn2 A T 3: 8,610,750 (GRCm39) D78V probably damaging Het
Stpg1 C T 4: 135,233,777 (GRCm39) P20S possibly damaging Het
Taf2 A T 15: 54,909,325 (GRCm39) V640E probably damaging Het
Tbce T C 13: 14,172,747 (GRCm39) E501G probably benign Het
Tecpr2 A G 12: 110,935,374 (GRCm39) S1398G probably damaging Het
Tenm4 T A 7: 96,421,242 (GRCm39) Y598* probably null Het
Ticrr A G 7: 79,327,088 (GRCm39) S599G probably damaging Het
Tnc A C 4: 63,935,679 (GRCm39) V419G probably damaging Het
Trappc1 C A 11: 69,216,402 (GRCm39) P110T probably benign Het
Trbv12-2 C T 6: 41,095,993 (GRCm39) probably benign Het
Ttbk2 A T 2: 120,576,264 (GRCm39) N835K possibly damaging Het
Tubgcp5 A G 7: 55,450,432 (GRCm39) D181G probably damaging Het
Tut1 T C 19: 8,932,891 (GRCm39) Y75H possibly damaging Het
Ulk2 C A 11: 61,678,412 (GRCm39) C769F probably benign Het
Vdac1 T C 11: 52,265,800 (GRCm39) probably benign Het
Vmn2r124 T C 17: 18,284,486 (GRCm39) probably null Het
Vps8 T C 16: 21,426,977 (GRCm39) probably benign Het
Wdr35 T C 12: 9,045,625 (GRCm39) probably benign Het
Zdhhc7 T A 8: 120,813,386 (GRCm39) E141V probably null Het
Zfp12 C A 5: 143,230,978 (GRCm39) S435Y probably damaging Het
Zfp974 A T 7: 27,626,819 (GRCm39) probably benign Het
Zfyve9 T A 4: 108,538,166 (GRCm39) K1033N probably damaging Het
Zswim8 T A 14: 20,772,013 (GRCm39) S1572T possibly damaging Het
Other mutations in Adamts6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00228:Adamts6 APN 13 104,566,298 (GRCm39) missense possibly damaging 0.79
IGL00583:Adamts6 APN 13 104,433,726 (GRCm39) nonsense probably null
IGL01305:Adamts6 APN 13 104,526,590 (GRCm39) missense probably damaging 1.00
IGL01448:Adamts6 APN 13 104,433,672 (GRCm39) missense probably damaging 1.00
IGL01517:Adamts6 APN 13 104,526,700 (GRCm39) splice site probably benign
IGL01678:Adamts6 APN 13 104,450,196 (GRCm39) missense probably damaging 1.00
IGL01737:Adamts6 APN 13 104,526,643 (GRCm39) missense probably damaging 0.99
IGL02152:Adamts6 APN 13 104,450,168 (GRCm39) missense probably null 1.00
IGL02217:Adamts6 APN 13 104,598,873 (GRCm39) splice site probably benign
IGL02828:Adamts6 APN 13 104,433,978 (GRCm39) missense probably damaging 1.00
IGL03067:Adamts6 APN 13 104,433,783 (GRCm39) missense probably damaging 1.00
IGL03081:Adamts6 APN 13 104,581,464 (GRCm39) utr 3 prime probably benign
IGL03159:Adamts6 APN 13 104,580,723 (GRCm39) missense probably damaging 1.00
IGL03411:Adamts6 APN 13 104,450,842 (GRCm39) missense possibly damaging 0.77
De_vito UTSW 13 104,483,900 (GRCm39) critical splice donor site probably null
festinator UTSW 13 104,616,043 (GRCm39) missense probably damaging 1.00
ANU22:Adamts6 UTSW 13 104,526,590 (GRCm39) missense probably damaging 1.00
P0007:Adamts6 UTSW 13 104,433,999 (GRCm39) missense possibly damaging 0.73
R0504:Adamts6 UTSW 13 104,563,438 (GRCm39) splice site probably benign
R0549:Adamts6 UTSW 13 104,433,763 (GRCm39) missense possibly damaging 0.60
R0566:Adamts6 UTSW 13 104,581,435 (GRCm39) missense probably benign 0.00
R0703:Adamts6 UTSW 13 104,489,355 (GRCm39) missense probably damaging 1.00
R0799:Adamts6 UTSW 13 104,450,779 (GRCm39) missense probably damaging 1.00
R0838:Adamts6 UTSW 13 104,550,297 (GRCm39) missense possibly damaging 0.47
R1500:Adamts6 UTSW 13 104,449,389 (GRCm39) missense probably damaging 1.00
R1502:Adamts6 UTSW 13 104,630,145 (GRCm39) missense probably damaging 1.00
R1547:Adamts6 UTSW 13 104,581,383 (GRCm39) missense probably benign 0.26
R1619:Adamts6 UTSW 13 104,449,285 (GRCm39) missense probably benign 0.14
R1727:Adamts6 UTSW 13 104,565,472 (GRCm39) splice site probably benign
R1967:Adamts6 UTSW 13 104,563,459 (GRCm39) nonsense probably null
R2013:Adamts6 UTSW 13 104,450,812 (GRCm39) missense probably damaging 0.98
R2079:Adamts6 UTSW 13 104,598,746 (GRCm39) missense probably benign 0.00
R2432:Adamts6 UTSW 13 104,563,485 (GRCm39) missense probably benign 0.01
R3118:Adamts6 UTSW 13 104,450,787 (GRCm39) missense possibly damaging 0.91
R4125:Adamts6 UTSW 13 104,449,412 (GRCm39) missense probably damaging 1.00
R4274:Adamts6 UTSW 13 104,450,787 (GRCm39) missense possibly damaging 0.91
R4795:Adamts6 UTSW 13 104,580,636 (GRCm39) nonsense probably null
R4841:Adamts6 UTSW 13 104,449,295 (GRCm39) missense probably benign 0.00
R4976:Adamts6 UTSW 13 104,433,998 (GRCm39) missense probably damaging 0.98
R5085:Adamts6 UTSW 13 104,443,751 (GRCm39) missense probably damaging 0.99
R5234:Adamts6 UTSW 13 104,630,130 (GRCm39) missense probably damaging 1.00
R5403:Adamts6 UTSW 13 104,489,323 (GRCm39) missense possibly damaging 0.86
R5753:Adamts6 UTSW 13 104,483,858 (GRCm39) missense probably damaging 1.00
R6027:Adamts6 UTSW 13 104,616,043 (GRCm39) missense probably damaging 1.00
R6187:Adamts6 UTSW 13 104,433,933 (GRCm39) missense probably damaging 1.00
R6229:Adamts6 UTSW 13 104,483,900 (GRCm39) critical splice donor site probably null
R6243:Adamts6 UTSW 13 104,450,809 (GRCm39) missense probably damaging 0.99
R6257:Adamts6 UTSW 13 104,598,790 (GRCm39) missense probably benign
R6743:Adamts6 UTSW 13 104,565,436 (GRCm39) missense probably damaging 1.00
R6775:Adamts6 UTSW 13 104,450,160 (GRCm39) missense probably damaging 0.97
R7113:Adamts6 UTSW 13 104,449,267 (GRCm39) missense probably benign
R7351:Adamts6 UTSW 13 104,526,620 (GRCm39) missense possibly damaging 0.63
R7520:Adamts6 UTSW 13 104,433,694 (GRCm39) missense probably benign 0.01
R7866:Adamts6 UTSW 13 104,550,257 (GRCm39) nonsense probably null
R8274:Adamts6 UTSW 13 104,450,181 (GRCm39) missense probably benign 0.02
R8348:Adamts6 UTSW 13 104,616,027 (GRCm39) missense probably damaging 0.99
R8448:Adamts6 UTSW 13 104,616,027 (GRCm39) missense probably damaging 0.99
R8686:Adamts6 UTSW 13 104,450,207 (GRCm39) missense probably damaging 1.00
R8691:Adamts6 UTSW 13 104,450,839 (GRCm39) missense probably benign 0.00
R8962:Adamts6 UTSW 13 104,433,899 (GRCm39) missense probably damaging 0.99
R8978:Adamts6 UTSW 13 104,512,247 (GRCm39) missense probably damaging 1.00
R9075:Adamts6 UTSW 13 104,598,793 (GRCm39) missense probably benign
R9080:Adamts6 UTSW 13 104,449,427 (GRCm39) missense probably damaging 1.00
R9152:Adamts6 UTSW 13 104,613,275 (GRCm39) missense probably benign 0.06
R9213:Adamts6 UTSW 13 104,581,440 (GRCm39) missense probably damaging 1.00
R9536:Adamts6 UTSW 13 104,489,313 (GRCm39) missense probably benign 0.07
R9674:Adamts6 UTSW 13 104,563,448 (GRCm39) missense probably benign 0.17
X0065:Adamts6 UTSW 13 104,630,136 (GRCm39) missense probably damaging 1.00
Predicted Primers
Posted On 2013-05-09