Incidental Mutation 'IGL00229:Adam6b'
ID 2178
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adam6b
Ensembl Gene ENSMUSG00000051804
Gene Name a disintegrin and metallopeptidase domain 6B
Synonyms 4930523C11Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.054) question?
Stock # IGL00229
Quality Score
Status
Chromosome 12
Chromosomal Location 113489511-113492057 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 113491393 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 610 (R610H)
Ref Sequence ENSEMBL: ENSMUSP00000065529 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063317]
AlphaFold Q6IMH7
Predicted Effect probably damaging
Transcript: ENSMUST00000063317
AA Change: R610H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000065529
Gene: ENSMUSG00000051804
AA Change: R610H

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
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010111I01Rik A G 13: 63,199,500 probably benign Het
9030624J02Rik T A 7: 118,804,191 probably benign Het
Abca4 A G 3: 122,170,954 T929A probably damaging Het
Adamts12 T A 15: 11,311,599 M1314K probably benign Het
Alg6 T A 4: 99,753,054 F152I probably damaging Het
Arid5b A G 10: 68,128,975 S289P probably damaging Het
Axin1 T C 17: 26,194,072 F780L probably damaging Het
C87499 A G 4: 88,629,053 I214T probably damaging Het
C9 C T 15: 6,483,231 S278L possibly damaging Het
Calr4 A T 4: 109,244,115 I65F probably damaging Het
Cdh23 A G 10: 60,523,548 V260A probably benign Het
Ddx25 T C 9: 35,543,595 probably benign Het
Dppa4 A G 16: 48,291,083 T92A possibly damaging Het
Ercc5 T C 1: 44,163,898 Y232H probably damaging Het
Exoc4 A G 6: 33,918,399 probably null Het
Fam149a A G 8: 45,351,786 V253A probably damaging Het
Fam209 C T 2: 172,474,182 T159I probably damaging Het
Gcfc2 A T 6: 81,936,015 N265I probably damaging Het
Glud1 T C 14: 34,336,130 V366A probably benign Het
Hdac10 T C 15: 89,128,442 T3A probably damaging Het
Ifnar1 T C 16: 91,489,782 S54P probably damaging Het
Itpr2 T C 6: 146,144,185 Y2561C probably damaging Het
Klhl30 A G 1: 91,354,157 E160G possibly damaging Het
Kmt2d A T 15: 98,862,333 S1015T unknown Het
Lactb2 A G 1: 13,660,374 M26T probably damaging Het
Lactbl1 A T 4: 136,631,051 D111V probably damaging Het
Lig4 T C 8: 9,972,775 Y335C probably damaging Het
Lrrc8e T A 8: 4,235,921 D715E probably benign Het
Med6 A T 12: 81,579,574 V142D possibly damaging Het
Men1 G A 19: 6,337,207 probably null Het
Mettl13 A G 1: 162,535,865 V600A possibly damaging Het
Mpdz A T 4: 81,310,224 C1314* probably null Het
Nbeal2 A G 9: 110,635,869 V1009A probably damaging Het
Nmur2 A G 11: 56,040,777 L36P probably damaging Het
Nudt2 T A 4: 41,480,474 L119Q probably damaging Het
Olfr1472 T C 19: 13,453,840 M226V possibly damaging Het
Osbpl3 C T 6: 50,323,068 E519K probably damaging Het
Pak6 A T 2: 118,689,845 T106S possibly damaging Het
Pggt1b T G 18: 46,280,719 Q34P probably benign Het
Phactr4 T C 4: 132,370,992 T322A possibly damaging Het
Plekhj1 T C 10: 80,796,602 probably null Het
Pnpt1 T C 11: 29,154,217 probably null Het
Prr14l T C 5: 32,830,676 I492V probably benign Het
Ranbp2 C A 10: 58,477,256 A1266E probably damaging Het
Riok3 G A 18: 12,137,020 D140N probably damaging Het
Rsph4a G A 10: 33,914,343 E643K probably damaging Het
Scara3 T G 14: 65,933,121 E103A probably benign Het
Sgk3 T C 1: 9,868,384 V33A probably damaging Het
Slc38a4 A G 15: 96,999,494 F480S probably damaging Het
Slc44a1 G A 4: 53,543,571 V372M probably damaging Het
Slc9a2 A G 1: 40,767,737 Y728C probably benign Het
Sox4 C A 13: 28,952,973 G17W probably damaging Het
Spidr A T 16: 15,895,578 L847Q probably damaging Het
Sptb A G 12: 76,620,753 S857P probably benign Het
Syde1 A G 10: 78,585,809 V636A probably damaging Het
Syna A G 5: 134,559,717 L126P possibly damaging Het
Taar2 A G 10: 23,941,368 T269A possibly damaging Het
Tapbp C T 17: 33,925,704 T258I probably damaging Het
Tcf20 T A 15: 82,857,142 Q36L possibly damaging Het
Tmem131l A T 3: 83,942,500 M260K probably damaging Het
Tnc T A 4: 64,016,824 probably benign Het
Ugp2 T A 11: 21,354,345 E27D probably benign Het
Wdr27 A T 17: 14,928,310 C140* probably null Het
Wnt2b T C 3: 104,953,133 T153A possibly damaging Het
Xirp2 A T 2: 67,513,375 T1987S probably benign Het
Zfp36l1 C A 12: 80,110,464 G48C probably damaging Het
Zfp474 A T 18: 52,638,493 I73F possibly damaging Het
Zfp790 T A 7: 29,828,563 F224L probably benign Het
Other mutations in Adam6b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00800:Adam6b APN 12 113490442 missense probably benign 0.24
IGL01456:Adam6b APN 12 113491463 missense probably benign 0.30
IGL02232:Adam6b APN 12 113491144 missense probably benign 0.06
IGL03039:Adam6b APN 12 113490882 missense probably damaging 1.00
IGL03399:Adam6b APN 12 113491108 missense probably damaging 0.97
IGL03412:Adam6b APN 12 113491770 nonsense probably null
R0234:Adam6b UTSW 12 113490610 missense probably damaging 0.98
R0234:Adam6b UTSW 12 113490610 missense probably damaging 0.98
R0373:Adam6b UTSW 12 113490655 missense probably benign 0.15
R0402:Adam6b UTSW 12 113489995 missense probably damaging 0.96
R0420:Adam6b UTSW 12 113489994 missense probably benign 0.02
R0573:Adam6b UTSW 12 113491658 missense possibly damaging 0.90
R0884:Adam6b UTSW 12 113490995 missense probably damaging 1.00
R1489:Adam6b UTSW 12 113491451 missense probably benign 0.15
R1542:Adam6b UTSW 12 113490939 missense possibly damaging 0.53
R1591:Adam6b UTSW 12 113489832 missense probably benign 0.07
R1596:Adam6b UTSW 12 113491026 missense probably damaging 1.00
R1675:Adam6b UTSW 12 113491044 missense probably benign 0.00
R1699:Adam6b UTSW 12 113490585 missense probably benign 0.02
R1818:Adam6b UTSW 12 113491256 missense probably benign 0.15
R1829:Adam6b UTSW 12 113489925 missense probably damaging 1.00
R1851:Adam6b UTSW 12 113491822 missense probably benign 0.44
R1955:Adam6b UTSW 12 113491816 missense probably benign 0.16
R2040:Adam6b UTSW 12 113490744 missense probably benign 0.34
R3820:Adam6b UTSW 12 113490364 missense probably benign 0.38
R4112:Adam6b UTSW 12 113489636 missense possibly damaging 0.85
R4434:Adam6b UTSW 12 113490661 missense probably damaging 1.00
R4435:Adam6b UTSW 12 113490661 missense probably damaging 1.00
R4437:Adam6b UTSW 12 113490661 missense probably damaging 1.00
R4438:Adam6b UTSW 12 113490661 missense probably damaging 1.00
R4509:Adam6b UTSW 12 113490352 missense probably benign 0.02
R5034:Adam6b UTSW 12 113490927 missense probably damaging 1.00
R5316:Adam6b UTSW 12 113491393 missense probably damaging 1.00
R5330:Adam6b UTSW 12 113490580 missense possibly damaging 0.45
R5331:Adam6b UTSW 12 113490580 missense possibly damaging 0.45
R5604:Adam6b UTSW 12 113490800 nonsense probably null
R5698:Adam6b UTSW 12 113491463 missense probably benign 0.30
R5877:Adam6b UTSW 12 113490202 missense probably damaging 1.00
R6235:Adam6b UTSW 12 113491710 missense probably benign
R6254:Adam6b UTSW 12 113489570 missense probably damaging 0.99
R6371:Adam6b UTSW 12 113490274 missense probably damaging 0.99
R6617:Adam6b UTSW 12 113490532 missense possibly damaging 0.78
R6768:Adam6b UTSW 12 113490243 missense probably benign 0.01
R7002:Adam6b UTSW 12 113489707 nonsense probably null
R7003:Adam6b UTSW 12 113490042 nonsense probably null
R7049:Adam6b UTSW 12 113490502 missense probably damaging 0.99
R7313:Adam6b UTSW 12 113491134 missense probably benign 0.00
R7372:Adam6b UTSW 12 113490164 missense probably benign 0.24
R7684:Adam6b UTSW 12 113491576 nonsense probably null
R7777:Adam6b UTSW 12 113490138 missense possibly damaging 0.93
R7781:Adam6b UTSW 12 113491342 missense probably damaging 1.00
R7857:Adam6b UTSW 12 113490484 missense probably benign 0.09
R8196:Adam6b UTSW 12 113490467 missense probably benign 0.19
R8423:Adam6b UTSW 12 113490910 missense possibly damaging 0.77
R8680:Adam6b UTSW 12 113490751 missense probably benign 0.05
R8762:Adam6b UTSW 12 113489607 missense probably damaging 0.98
R8792:Adam6b UTSW 12 113491690 missense possibly damaging 0.75
R8806:Adam6b UTSW 12 113491798 missense possibly damaging 0.90
R8880:Adam6b UTSW 12 113491144 missense probably benign
R8977:Adam6b UTSW 12 113490376 missense probably benign 0.02
R8987:Adam6b UTSW 12 113491128 missense probably damaging 1.00
R9101:Adam6b UTSW 12 113491756 missense probably benign 0.22
R9103:Adam6b UTSW 12 113490938 nonsense probably null
R9334:Adam6b UTSW 12 113491148 missense probably damaging 1.00
RF012:Adam6b UTSW 12 113489932 missense probably damaging 1.00
RF022:Adam6b UTSW 12 113491669 missense possibly damaging 0.90
T0722:Adam6b UTSW 12 113489577 missense possibly damaging 0.91
T0722:Adam6b UTSW 12 113491268 missense probably benign 0.11
Posted On 2011-12-09