Incidental Mutation 'R6254:Adam6b'
ID 506014
Institutional Source Beutler Lab
Gene Symbol Adam6b
Ensembl Gene ENSMUSG00000051804
Gene Name a disintegrin and metallopeptidase domain 6B
Synonyms 4930523C11Rik
MMRRC Submission 044371-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R6254 (G1)
Quality Score 208.009
Status Validated
Chromosome 12
Chromosomal Location 113453185-113455455 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 113453190 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 2 (L2F)
Ref Sequence ENSEMBL: ENSMUSP00000065529 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063317]
AlphaFold Q6IMH7
Predicted Effect probably damaging
Transcript: ENSMUST00000063317
AA Change: L2F

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000065529
Gene: ENSMUSG00000051804
AA Change: L2F

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.4%
Validation Efficiency 100% (82/82)
Allele List at MGI
Other mutations in this stock
Total: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ank2 T A 3: 126,735,453 (GRCm39) probably benign Het
Anpep T G 7: 79,488,981 (GRCm39) D369A probably damaging Het
App T C 16: 84,775,065 (GRCm39) E599G probably damaging Het
Asphd1 C T 7: 126,548,040 (GRCm39) V88I probably benign Het
Atad5 A T 11: 80,018,215 (GRCm39) I1389F probably damaging Het
Blm T C 7: 80,130,090 (GRCm39) N950S probably benign Het
Bsn A T 9: 107,989,065 (GRCm39) M2229K probably damaging Het
Cacna2d2 A G 9: 107,386,415 (GRCm39) M181V probably benign Het
Cadps2 T A 6: 23,329,162 (GRCm39) probably null Het
Cdh1 T A 8: 107,390,430 (GRCm39) V590D probably damaging Het
Cdk5rap2 G A 4: 70,282,269 (GRCm39) T160M probably damaging Het
Cfap97d2 A G 8: 13,756,043 (GRCm39) D26G possibly damaging Het
Cfhr4 A G 1: 139,682,128 (GRCm39) I156T probably damaging Het
Chrna5 A G 9: 54,913,740 (GRCm39) M325V probably benign Het
Clca3a2 A G 3: 144,507,895 (GRCm39) I116T probably benign Het
Cyp2c23 T C 19: 43,993,902 (GRCm39) K488R probably benign Het
Edil3 T A 13: 89,467,848 (GRCm39) I451N probably damaging Het
Exph5 T G 9: 53,284,010 (GRCm39) S364A possibly damaging Het
Fam98c A G 7: 28,853,942 (GRCm39) S209P probably damaging Het
Fat3 G A 9: 15,907,441 (GRCm39) L2854F probably benign Het
Fbxo38 T C 18: 62,638,571 (GRCm39) probably null Het
Fermt2 T C 14: 45,713,516 (GRCm39) D205G probably damaging Het
Fmnl1 G A 11: 103,087,141 (GRCm39) probably benign Het
Fn3k A G 11: 121,325,894 (GRCm39) E27G probably damaging Het
Foxj2 A G 6: 122,815,098 (GRCm39) H378R probably damaging Het
Fubp1 A G 3: 151,938,045 (GRCm39) K140E possibly damaging Het
Gm7694 A T 1: 170,130,103 (GRCm39) C98* probably null Het
Golgb1 T C 16: 36,734,340 (GRCm39) S1196P probably damaging Het
Gpm6a G A 8: 55,500,431 (GRCm39) probably null Het
Hltf T A 3: 20,117,993 (GRCm39) N80K possibly damaging Het
Il1rap G A 16: 26,514,020 (GRCm39) R251H probably benign Het
Ipo7 T A 7: 109,648,267 (GRCm39) D688E probably benign Het
Itgal T A 7: 126,924,375 (GRCm39) N897K probably damaging Het
Itsn2 A G 12: 4,674,982 (GRCm39) probably null Het
Kcnk13 A G 12: 99,931,631 (GRCm39) probably benign Het
Kdm7a A G 6: 39,147,203 (GRCm39) L248P probably damaging Het
Kmt2c T C 5: 25,554,872 (GRCm39) E1254G possibly damaging Het
Ldah G A 12: 8,325,912 (GRCm39) probably benign Het
Lingo1 T A 9: 56,527,371 (GRCm39) D406V possibly damaging Het
Lratd2 A G 15: 60,695,650 (GRCm39) I32T probably damaging Het
Lrriq1 A T 10: 103,051,312 (GRCm39) V480E probably benign Het
Mtcl1 C T 17: 66,665,129 (GRCm39) R1142H probably benign Het
Mtmr3 G A 11: 4,447,381 (GRCm39) Q360* probably null Het
Muc6 T C 7: 141,237,380 (GRCm39) N252S probably benign Het
Naa20 T C 2: 145,745,240 (GRCm39) L4P probably damaging Het
Neb T A 2: 52,112,973 (GRCm39) I4274L probably benign Het
Noa1 A T 5: 77,457,516 (GRCm39) F130I probably benign Het
Nrg4 G T 9: 55,143,796 (GRCm39) H87N possibly damaging Het
Or51ai2 T A 7: 103,586,741 (GRCm39) H51Q probably benign Het
Or5m12 T A 2: 85,734,849 (GRCm39) Y183F probably damaging Het
P3h3 C T 6: 124,822,564 (GRCm39) E536K probably damaging Het
Pcdhb11 T C 18: 37,554,771 (GRCm39) S34P probably damaging Het
Pik3r1 T C 13: 101,825,914 (GRCm39) T71A possibly damaging Het
Plaur T A 7: 24,166,225 (GRCm39) C99S possibly damaging Het
Plekha5 G A 6: 140,532,162 (GRCm39) G501E probably damaging Het
Plxnd1 C T 6: 115,954,921 (GRCm39) V614M probably benign Het
Ppp2r3d T C 9: 101,025,786 (GRCm39) D307G possibly damaging Het
Prl3d3 C T 13: 27,341,453 (GRCm39) S28F possibly damaging Het
Prpf40a T C 2: 53,047,927 (GRCm39) M197V probably benign Het
Ptk7 C A 17: 46,883,568 (GRCm39) Q832H probably damaging Het
Qser1 T C 2: 104,620,435 (GRCm39) S126G probably benign Het
Rab3ip A T 10: 116,751,772 (GRCm39) C332S probably damaging Het
Raly C A 2: 154,699,286 (GRCm39) T30K probably damaging Het
Rbp2 G T 9: 98,372,700 (GRCm39) S13I probably benign Het
Rps6ka1 C T 4: 133,594,535 (GRCm39) M159I possibly damaging Het
Rufy3 C T 5: 88,732,168 (GRCm39) T57I probably benign Het
Samd4 A G 14: 47,254,088 (GRCm39) D184G probably damaging Het
Slc35f3 T C 8: 127,047,833 (GRCm39) C58R possibly damaging Het
Smarca4 T C 9: 21,611,173 (GRCm39) I1467T probably damaging Het
Spag17 T G 3: 99,972,901 (GRCm39) I1371S probably benign Het
Sptan1 T C 2: 29,897,561 (GRCm39) L1228P possibly damaging Het
Stk31 C T 6: 49,398,631 (GRCm39) A344V probably benign Het
Supt16 A G 14: 52,408,291 (GRCm39) W885R probably damaging Het
Tdrd9 T A 12: 111,992,334 (GRCm39) probably null Het
Tmod1 A G 4: 46,078,469 (GRCm39) probably null Het
Tnfsf13 A C 11: 69,575,309 (GRCm39) probably null Het
Trim75 C A 8: 65,436,094 (GRCm39) E119* probably null Het
Wdr6 T C 9: 108,452,110 (GRCm39) Y591C probably damaging Het
Wdr86 C T 5: 24,923,281 (GRCm39) R137H probably benign Het
Ythdf1 T A 2: 180,552,943 (GRCm39) Y424F probably damaging Het
Zfp984 G T 4: 147,840,643 (GRCm39) S69R possibly damaging Het
Zyg11a A G 4: 108,038,991 (GRCm39) F743L 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
R1591:Adam6b UTSW 12 113,453,452 (GRCm39) missense probably benign 0.07
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
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'- AGAGACACTCCTTGCTGCTTC -3'
(R):5'- ATGGTAGATCTCCTTCCGAGG -3'

Sequencing Primer
(F):5'- TGTCCAGGCACATTTATAGACATCC -3'
(R):5'- GGAATAACCACCTCCGATGAGATG -3'
Posted On 2018-02-28