Incidental Mutation 'R1675:Adam6b'
ID 188017
Institutional Source Beutler Lab
Gene Symbol Adam6b
Ensembl Gene ENSMUSG00000051804
Gene Name a disintegrin and metallopeptidase domain 6B
Synonyms 4930523C11Rik
MMRRC Submission 039711-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R1675 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 113453185-113455455 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 113454664 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 494 (Y494H)
Ref Sequence ENSEMBL: ENSMUSP00000065529 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063317]
AlphaFold Q6IMH7
Predicted Effect probably benign
Transcript: ENSMUST00000063317
AA Change: Y494H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000065529
Gene: ENSMUSG00000051804
AA Change: Y494H

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: 99.2%
  • 3x: 98.5%
  • 10x: 96.5%
  • 20x: 93.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 C T 1: 71,302,570 (GRCm39) probably null Het
Adamtsl2 GC G 2: 26,972,497 (GRCm39) probably null Het
Anapc2 G A 2: 25,162,651 (GRCm39) V42M possibly damaging Het
Aph1a T A 3: 95,802,211 (GRCm39) D64E possibly damaging Het
Arhgef11 C T 3: 87,638,518 (GRCm39) A1111V possibly damaging Het
Atoh1 T C 6: 64,707,141 (GRCm39) S279P probably benign Het
Atp10b A G 11: 43,116,475 (GRCm39) T941A probably damaging Het
Barhl1 C T 2: 28,805,423 (GRCm39) R90Q possibly damaging Het
Calr3 T C 8: 73,185,302 (GRCm39) D91G probably damaging Het
Ccdc148 T C 2: 58,870,566 (GRCm39) D317G probably damaging Het
Cnn3 C T 3: 121,250,818 (GRCm39) Q19* probably null Het
Cul5 T C 9: 53,557,983 (GRCm39) D207G probably benign Het
Cyp4x1 T C 4: 114,984,757 (GRCm39) E41G possibly damaging Het
Dagla T A 19: 10,246,687 (GRCm39) M138L probably benign Het
Dnah6 A T 6: 73,106,523 (GRCm39) M1738K probably damaging Het
Eif4enif1 T A 11: 3,165,686 (GRCm39) S88T probably benign Het
Eno3 T C 11: 70,549,492 (GRCm39) probably null Het
Erbb3 C A 10: 128,407,073 (GRCm39) S1029I probably damaging Het
Erbin C A 13: 103,977,686 (GRCm39) V624L probably damaging Het
Fam170b C T 14: 32,557,359 (GRCm39) Q65* probably null Het
Gin1 T A 1: 97,713,780 (GRCm39) L360* probably null Het
Gldc A T 19: 30,120,853 (GRCm39) D359E probably damaging Het
Gpr107 A T 2: 31,057,063 (GRCm39) T52S possibly damaging Het
Hip1r A G 5: 124,132,883 (GRCm39) Y227C probably damaging Het
Hmgxb3 A G 18: 61,268,631 (GRCm39) L1004P probably damaging Het
Hspa1l A G 17: 35,196,419 (GRCm39) N153D probably damaging Het
Itga8 C A 2: 12,204,974 (GRCm39) V488L probably damaging Het
Kcnk10 G A 12: 98,462,547 (GRCm39) A134V probably benign Het
Kif18a T A 2: 109,128,748 (GRCm39) C406S probably benign Het
Klhl28 A T 12: 64,998,593 (GRCm39) S300R probably damaging Het
Kmt2e C T 5: 23,687,451 (GRCm39) Q434* probably null Het
Lilrb4a A G 10: 51,372,281 (GRCm39) T222A probably benign Het
Lipn G A 19: 34,058,110 (GRCm39) R277Q probably damaging Het
Lrrc61 G A 6: 48,545,708 (GRCm39) R177Q possibly damaging Het
Lrrc74a G A 12: 86,787,800 (GRCm39) E144K probably damaging Het
Mal T C 2: 127,476,964 (GRCm39) Y77C probably benign Het
Map1a T A 2: 121,133,136 (GRCm39) C1079* probably null Het
Mbd5 T A 2: 49,146,230 (GRCm39) S147T possibly damaging Het
Nsd2 T A 5: 34,018,493 (GRCm39) M509K probably benign Het
Or13p4 C T 4: 118,547,145 (GRCm39) R168H probably benign Het
Or1ad8 T C 11: 50,898,464 (GRCm39) F222L probably benign Het
Or5an1c C T 19: 12,218,195 (GRCm39) V277I probably benign Het
Or6p1 T C 1: 174,258,663 (GRCm39) V223A probably benign Het
Rcor2 C T 19: 7,247,546 (GRCm39) L45F probably damaging Het
Rpl12 T A 2: 32,853,537 (GRCm39) D107E probably benign Het
Rpl7l1 A T 17: 47,089,117 (GRCm39) F205I probably damaging Het
Samd4b C T 7: 28,113,435 (GRCm39) G177R probably damaging Het
Sema4a A T 3: 88,362,073 (GRCm39) F18I possibly damaging Het
Slc37a1 A T 17: 31,557,048 (GRCm39) T405S probably damaging Het
Snrnp40 C G 4: 130,271,836 (GRCm39) probably null Het
Syt14 T C 1: 192,579,790 (GRCm39) D781G probably damaging Het
Tasor2 T C 13: 3,619,507 (GRCm39) I2241M possibly damaging Het
Tprn T G 2: 25,154,421 (GRCm39) D574E probably benign Het
Trim75 T A 8: 65,435,163 (GRCm39) E429V probably damaging Het
Trit1 C T 4: 122,948,029 (GRCm39) R450C possibly damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Unc13c A G 9: 73,546,332 (GRCm39) probably null Het
Usp49 C A 17: 47,984,335 (GRCm39) L447I probably damaging Het
Vmn1r20 T C 6: 57,408,937 (GRCm39) C88R probably benign Het
Zfp94 T A 7: 24,002,259 (GRCm39) K394N 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
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'- AGATCCCTGCTGTGGAAATGATTGC -3'
(R):5'- TGTCCCACGATGTTCATCAAGCC -3'

Sequencing Primer
(F):5'- TGCAGGTTAACACCTGGTAGC -3'
(R):5'- GTGACATTGGTACACTGCAAC -3'
Posted On 2014-05-09