Incidental Mutation 'R1591:Adam6b'
ID 175518
Institutional Source Beutler Lab
Gene Symbol Adam6b
Ensembl Gene ENSMUSG00000051804
Gene Name a disintegrin and metallopeptidase domain 6B
Synonyms 4930523C11Rik
MMRRC Submission 039628-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R1591 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 113453185-113455455 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 113453452 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 90 (I90F)
Ref Sequence ENSEMBL: ENSMUSP00000065529 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063317]
AlphaFold Q6IMH7
Predicted Effect probably benign
Transcript: ENSMUST00000063317
AA Change: I90F

PolyPhen 2 Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000065529
Gene: ENSMUSG00000051804
AA Change: I90F

DomainStartEndE-ValueType
Pfam:Pep_M12B_propep 30 167 1.1e-16 PFAM
Pfam:Reprolysin 223 407 1.1e-14 PFAM
DISIN 427 502 9.2e-33 SMART
ACR 503 640 2.74e-60 SMART
transmembrane domain 704 726 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.5%
  • 20x: 89.7%
Validation Efficiency 100% (80/80)
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abraxas1 G T 5: 100,957,505 (GRCm39) Q201K probably benign Het
Acacb A T 5: 114,341,484 (GRCm39) I829F possibly damaging Het
Acvr1b G T 15: 101,091,905 (GRCm39) V62L probably benign Het
Adgrf1 T C 17: 43,621,872 (GRCm39) L703P probably damaging Het
Arf3 T C 15: 98,640,669 (GRCm39) probably benign Het
Asns T C 6: 7,678,007 (GRCm39) D357G probably damaging Het
Atr T C 9: 95,827,438 (GRCm39) M2461T probably damaging Het
B3galt4 G A 17: 34,169,813 (GRCm39) R142C probably damaging Het
Bod1l T C 5: 41,976,563 (GRCm39) I1584V probably benign Het
Bub3 T C 7: 131,163,337 (GRCm39) probably null Het
Camkk2 A G 5: 122,895,621 (GRCm39) probably null Het
Cand1 G T 10: 119,047,774 (GRCm39) T572K possibly damaging Het
Caprin2 A T 6: 148,774,606 (GRCm39) S235R possibly damaging Het
Cdh24 T C 14: 54,873,799 (GRCm39) T452A probably benign Het
Cdh4 T C 2: 179,528,657 (GRCm39) probably null Het
Cfap61 A G 2: 145,987,378 (GRCm39) R1060G probably benign Het
Chd9 A G 8: 91,710,166 (GRCm39) D314G probably damaging Het
Cplx3 C T 9: 57,523,085 (GRCm39) V125I probably benign Het
Csmd1 T A 8: 15,950,710 (GRCm39) I3500F probably damaging Het
Dnah1 G T 14: 30,994,289 (GRCm39) Q2858K probably benign Het
Dnah6 C T 6: 73,053,583 (GRCm39) E2884K probably benign Het
Ecm1 G A 3: 95,643,275 (GRCm39) R342C probably damaging Het
Exosc10 T A 4: 148,652,840 (GRCm39) I485N probably benign Het
Fap T C 2: 62,384,201 (GRCm39) K2E probably damaging Het
Fgfr1 G A 8: 26,062,736 (GRCm39) G671D probably damaging Het
Fzr1 C T 10: 81,206,201 (GRCm39) R162Q possibly damaging Het
Grap2 A T 15: 80,532,649 (GRCm39) Y272F probably damaging Het
Il11ra1 T A 4: 41,766,200 (GRCm39) W246R probably damaging Het
Kcna3 A T 3: 106,944,345 (GRCm39) I203F probably damaging Het
Kcng1 T C 2: 168,110,630 (GRCm39) E178G possibly damaging Het
Kif19a A C 11: 114,680,057 (GRCm39) H798P probably benign Het
Kif21b T C 1: 136,077,055 (GRCm39) L359P probably damaging Het
Krt6a A T 15: 101,600,792 (GRCm39) probably null Het
Lrp1 C T 10: 127,441,475 (GRCm39) S216N probably benign Het
Lrp3 A G 7: 34,901,790 (GRCm39) V676A probably benign Het
Lrrc63 T A 14: 75,363,332 (GRCm39) K266N possibly damaging Het
Mccc1 C T 3: 36,044,006 (GRCm39) V246M probably damaging Het
Mdn1 T C 4: 32,700,092 (GRCm39) V1395A possibly damaging Het
Mmrn1 A T 6: 60,921,755 (GRCm39) R71* probably null Het
Mrps2 C T 2: 28,359,500 (GRCm39) A119V probably benign Het
Ogdh T C 11: 6,299,384 (GRCm39) F750S probably damaging Het
Or1ak2 C A 2: 36,827,990 (GRCm39) N286K probably damaging Het
Or51aa2 T G 7: 103,188,274 (GRCm39) T56P probably benign Het
Or5p60 T A 7: 107,723,571 (GRCm39) I300F possibly damaging Het
Or8b3 A G 9: 38,314,232 (GRCm39) T18A probably damaging Het
Or8b42 A T 9: 38,341,707 (GRCm39) N43I probably damaging Het
Osbpl11 A C 16: 33,030,353 (GRCm39) I194L probably benign Het
Pacsin2 T C 15: 83,269,252 (GRCm39) E14G probably damaging Het
Pate7 T C 9: 35,687,952 (GRCm39) D96G probably damaging Het
Pcdh7 A G 5: 57,877,764 (GRCm39) T440A probably damaging Het
Pcdhb17 T C 18: 37,618,878 (GRCm39) S223P probably damaging Het
Pik3c2g G A 6: 139,693,904 (GRCm39) R109K probably benign Het
Ppp2ca T C 11: 51,989,916 (GRCm39) I14T possibly damaging Het
Rdh12 A T 12: 79,258,278 (GRCm39) T102S probably damaging Het
Rsf1 T A 7: 97,288,520 (GRCm39) C132* probably null Het
Rufy1 G A 11: 50,285,755 (GRCm39) L621F probably damaging Het
Ruvbl2 C T 7: 45,074,135 (GRCm39) R253H possibly damaging Het
Sdf2 A G 11: 78,145,819 (GRCm39) E172G probably damaging Het
Skint5 C T 4: 113,856,651 (GRCm39) probably null Het
Slc25a27 A G 17: 43,964,315 (GRCm39) I185T probably benign Het
Slc41a3 A C 6: 90,610,677 (GRCm39) K180Q probably benign Het
Slc7a14 A C 3: 31,291,598 (GRCm39) F227V probably damaging Het
Smg1 T C 7: 117,756,142 (GRCm39) probably benign Het
St6galnac1 A T 11: 116,656,689 (GRCm39) D483E probably damaging Het
Tes A G 6: 17,097,441 (GRCm39) K183R probably damaging Het
Tgfbr1 G T 4: 47,403,471 (GRCm39) D290Y probably damaging Het
Tifab T A 13: 56,324,164 (GRCm39) Y93F probably benign Het
Tmem131l A G 3: 83,848,196 (GRCm39) probably null Het
Tnfrsf21 T A 17: 43,396,265 (GRCm39) S516R probably benign Het
Ttn T C 2: 76,606,389 (GRCm39) Y18140C probably damaging Het
Unc13b T A 4: 43,244,747 (GRCm39) S3692T probably damaging Het
Vwa8 C T 14: 79,145,670 (GRCm39) R116C probably damaging Het
Zfp113 T C 5: 138,149,459 (GRCm39) probably benign Het
Zfp26 T C 9: 20,348,921 (GRCm39) T548A probably benign Het
Zfp870 C T 17: 33,102,990 (GRCm39) G114D probably damaging Het
Other mutations in Adam6b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00229:Adam6b APN 12 113,455,013 (GRCm39) missense probably damaging 1.00
IGL00800:Adam6b APN 12 113,454,062 (GRCm39) missense probably benign 0.24
IGL01456:Adam6b APN 12 113,455,083 (GRCm39) missense probably benign 0.30
IGL02232:Adam6b APN 12 113,454,764 (GRCm39) missense probably benign 0.06
IGL03039:Adam6b APN 12 113,454,502 (GRCm39) missense probably damaging 1.00
IGL03399:Adam6b APN 12 113,454,728 (GRCm39) missense probably damaging 0.97
IGL03412:Adam6b APN 12 113,455,390 (GRCm39) nonsense probably null
R0234:Adam6b UTSW 12 113,454,230 (GRCm39) missense probably damaging 0.98
R0234:Adam6b UTSW 12 113,454,230 (GRCm39) missense probably damaging 0.98
R0373:Adam6b UTSW 12 113,454,275 (GRCm39) missense probably benign 0.15
R0402:Adam6b UTSW 12 113,453,615 (GRCm39) missense probably damaging 0.96
R0420:Adam6b UTSW 12 113,453,614 (GRCm39) missense probably benign 0.02
R0573:Adam6b UTSW 12 113,455,278 (GRCm39) missense possibly damaging 0.90
R0884:Adam6b UTSW 12 113,454,615 (GRCm39) missense probably damaging 1.00
R1489:Adam6b UTSW 12 113,455,071 (GRCm39) missense probably benign 0.15
R1542:Adam6b UTSW 12 113,454,559 (GRCm39) missense possibly damaging 0.53
R1596:Adam6b UTSW 12 113,454,646 (GRCm39) missense probably damaging 1.00
R1675:Adam6b UTSW 12 113,454,664 (GRCm39) missense probably benign 0.00
R1699:Adam6b UTSW 12 113,454,205 (GRCm39) missense probably benign 0.02
R1818:Adam6b UTSW 12 113,454,876 (GRCm39) missense probably benign 0.15
R1829:Adam6b UTSW 12 113,453,545 (GRCm39) missense probably damaging 1.00
R1851:Adam6b UTSW 12 113,455,442 (GRCm39) missense probably benign 0.44
R1955:Adam6b UTSW 12 113,455,436 (GRCm39) missense probably benign 0.16
R2040:Adam6b UTSW 12 113,454,364 (GRCm39) missense probably benign 0.34
R3820:Adam6b UTSW 12 113,453,984 (GRCm39) missense probably benign 0.38
R4112:Adam6b UTSW 12 113,453,256 (GRCm39) missense possibly damaging 0.85
R4434:Adam6b UTSW 12 113,454,281 (GRCm39) missense probably damaging 1.00
R4435:Adam6b UTSW 12 113,454,281 (GRCm39) missense probably damaging 1.00
R4437:Adam6b UTSW 12 113,454,281 (GRCm39) missense probably damaging 1.00
R4438:Adam6b UTSW 12 113,454,281 (GRCm39) missense probably damaging 1.00
R4509:Adam6b UTSW 12 113,453,972 (GRCm39) missense probably benign 0.02
R5034:Adam6b UTSW 12 113,454,547 (GRCm39) missense probably damaging 1.00
R5316:Adam6b UTSW 12 113,455,013 (GRCm39) missense probably damaging 1.00
R5330:Adam6b UTSW 12 113,454,200 (GRCm39) missense possibly damaging 0.45
R5331:Adam6b UTSW 12 113,454,200 (GRCm39) missense possibly damaging 0.45
R5604:Adam6b UTSW 12 113,454,420 (GRCm39) nonsense probably null
R5698:Adam6b UTSW 12 113,455,083 (GRCm39) missense probably benign 0.30
R5877:Adam6b UTSW 12 113,453,822 (GRCm39) missense probably damaging 1.00
R6235:Adam6b UTSW 12 113,455,330 (GRCm39) missense probably benign
R6254:Adam6b UTSW 12 113,453,190 (GRCm39) missense probably damaging 0.99
R6371:Adam6b UTSW 12 113,453,894 (GRCm39) missense probably damaging 0.99
R6617:Adam6b UTSW 12 113,454,152 (GRCm39) missense possibly damaging 0.78
R6768:Adam6b UTSW 12 113,453,863 (GRCm39) missense probably benign 0.01
R7002:Adam6b UTSW 12 113,453,327 (GRCm39) nonsense probably null
R7003:Adam6b UTSW 12 113,453,662 (GRCm39) nonsense probably null
R7049:Adam6b UTSW 12 113,454,122 (GRCm39) missense probably damaging 0.99
R7313:Adam6b UTSW 12 113,454,754 (GRCm39) missense probably benign 0.00
R7372:Adam6b UTSW 12 113,453,784 (GRCm39) missense probably benign 0.24
R7684:Adam6b UTSW 12 113,455,196 (GRCm39) nonsense probably null
R7777:Adam6b UTSW 12 113,453,758 (GRCm39) missense possibly damaging 0.93
R7781:Adam6b UTSW 12 113,454,962 (GRCm39) missense probably damaging 1.00
R7857:Adam6b UTSW 12 113,454,104 (GRCm39) missense probably benign 0.09
R8196:Adam6b UTSW 12 113,454,087 (GRCm39) missense probably benign 0.19
R8423:Adam6b UTSW 12 113,454,530 (GRCm39) missense possibly damaging 0.77
R8680:Adam6b UTSW 12 113,454,371 (GRCm39) missense probably benign 0.05
R8762:Adam6b UTSW 12 113,453,227 (GRCm39) missense probably damaging 0.98
R8792:Adam6b UTSW 12 113,455,310 (GRCm39) missense possibly damaging 0.75
R8806:Adam6b UTSW 12 113,455,418 (GRCm39) missense possibly damaging 0.90
R8880:Adam6b UTSW 12 113,454,764 (GRCm39) missense probably benign
R8977:Adam6b UTSW 12 113,453,996 (GRCm39) missense probably benign 0.02
R8987:Adam6b UTSW 12 113,454,748 (GRCm39) missense probably damaging 1.00
R9101:Adam6b UTSW 12 113,455,376 (GRCm39) missense probably benign 0.22
R9103:Adam6b UTSW 12 113,454,558 (GRCm39) nonsense probably null
R9334:Adam6b UTSW 12 113,454,768 (GRCm39) missense probably damaging 1.00
R9641:Adam6b UTSW 12 113,454,176 (GRCm39) missense probably benign
R9683:Adam6b UTSW 12 113,454,176 (GRCm39) missense probably benign
R9796:Adam6b UTSW 12 113,454,272 (GRCm39) missense probably damaging 1.00
RF012:Adam6b UTSW 12 113,453,552 (GRCm39) missense probably damaging 1.00
RF022:Adam6b UTSW 12 113,455,289 (GRCm39) missense possibly damaging 0.90
T0722:Adam6b UTSW 12 113,454,888 (GRCm39) missense probably benign 0.11
T0722:Adam6b UTSW 12 113,453,197 (GRCm39) missense possibly damaging 0.91
Predicted Primers PCR Primer
(F):5'- GGCCATCCTACTTGGCGTTACATC -3'
(R):5'- TGCATTCATAGGCCCTGTGTCATC -3'

Sequencing Primer
(F):5'- GGCGTTACATCTCATCGGAG -3'
(R):5'- ACAAGGTGTTCAAAGCTCTGTG -3'
Posted On 2014-04-24