Incidental Mutation 'R6706:Adam6a'
ID 528955
Institutional Source Beutler Lab
Gene Symbol Adam6a
Ensembl Gene ENSMUSG00000043945
Gene Name a disintegrin and metallopeptidase domain 6A
Synonyms Adam6
MMRRC Submission 044824-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # R6706 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 113507528-113510034 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 113508886 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Valine at position 420 (F420V)
Ref Sequence ENSEMBL: ENSMUSP00000059315 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053086]
AlphaFold B2RSY5
Predicted Effect probably benign
Transcript: ENSMUST00000053086
AA Change: F420V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000059315
Gene: ENSMUSG00000043945
AA Change: F420V

DomainStartEndE-ValueType
Pfam:Pep_M12B_propep 30 167 6.9e-17 PFAM
Pfam:Reprolysin 222 407 4e-15 PFAM
DISIN 427 502 1.63e-33 SMART
ACR 503 640 7.46e-62 SMART
transmembrane domain 704 726 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.2%
Validation Efficiency 97% (36/37)
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34 T A 8: 44,104,479 (GRCm39) K389* probably null Het
Alpl T C 4: 137,473,740 (GRCm39) T321A probably benign Het
Asxl3 A G 18: 22,586,666 (GRCm39) D152G probably damaging Het
B4galt4 A G 16: 38,578,173 (GRCm39) T207A probably benign Het
Bsph2 A T 7: 13,304,972 (GRCm39) M1K probably null Het
Cacna2d1 T A 5: 16,531,338 (GRCm39) L535Q probably damaging Het
Cacna2d3 T C 14: 28,846,642 (GRCm39) probably null Het
Chrdl2 T C 7: 99,659,328 (GRCm39) probably null Het
Ctdnep1 A G 11: 69,875,138 (GRCm39) N54S probably benign Het
Dclre1a A T 19: 56,533,501 (GRCm39) D364E probably benign Het
Dock1 A G 7: 134,735,615 (GRCm39) I1328V possibly damaging Het
Eno4 A T 19: 58,959,112 (GRCm39) E411D probably benign Het
Fbxl14 A G 6: 119,457,716 (GRCm39) Y299C probably benign Het
Fhdc1 T C 3: 84,353,729 (GRCm39) S499G probably damaging Het
Hectd4 C T 5: 121,458,147 (GRCm39) T771I possibly damaging Het
Kansl3 A G 1: 36,383,995 (GRCm39) probably null Het
Letm2 G A 8: 26,083,977 (GRCm39) H85Y probably benign Het
Map3k6 A T 4: 132,978,250 (GRCm39) K1031* probably null Het
Mfsd4b5 T A 10: 39,862,413 (GRCm39) T37S probably benign Het
Mgam T A 6: 40,721,720 (GRCm39) V346D probably benign Het
Myrip C T 9: 120,217,359 (GRCm39) H98Y possibly damaging Het
Nos2 A G 11: 78,835,549 (GRCm39) N443D possibly damaging Het
Notch2 A T 3: 98,045,746 (GRCm39) D1637V possibly damaging Het
Or4c35 T A 2: 89,808,929 (GRCm39) V269E probably damaging Het
Or6z6 G A 7: 6,491,049 (GRCm39) R275C probably damaging Het
Pank1 C T 19: 34,789,786 (GRCm39) G530D probably damaging Het
Pde4dip G T 3: 97,648,709 (GRCm39) R1036S probably damaging Het
Peg10 GC GCTCC 6: 4,756,452 (GRCm39) probably benign Het
Plin2 T C 4: 86,578,357 (GRCm39) T247A probably benign Het
Rp1 T A 1: 4,212,887 (GRCm39) I1067F unknown Het
Serpinb9d T A 13: 33,380,541 (GRCm39) N142K probably benign Het
Slc12a5 A G 2: 164,830,509 (GRCm39) Y639C probably damaging Het
Tfap2c A G 2: 172,399,276 (GRCm39) M508V probably benign Het
Tmprss11d T C 5: 86,478,962 (GRCm39) N147S probably benign Het
Togaram1 T A 12: 65,049,383 (GRCm39) N1273K probably benign Het
Ttn G A 2: 76,709,687 (GRCm39) R1581* probably null Het
Uggt2 T A 14: 119,308,293 (GRCm39) I363F probably damaging Het
Vmn2r63 T A 7: 42,578,001 (GRCm39) D179V probably damaging Het
Other mutations in Adam6a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00580:Adam6a APN 12 113,508,845 (GRCm39) missense probably benign 0.00
IGL00896:Adam6a APN 12 113,509,030 (GRCm39) missense possibly damaging 0.56
IGL01146:Adam6a APN 12 113,507,840 (GRCm39) missense probably damaging 1.00
IGL01285:Adam6a APN 12 113,509,893 (GRCm39) makesense probably null
IGL01839:Adam6a APN 12 113,508,242 (GRCm39) missense probably benign 0.03
IGL01906:Adam6a APN 12 113,507,951 (GRCm39) missense probably benign 0.19
IGL02306:Adam6a APN 12 113,509,343 (GRCm39) missense possibly damaging 0.93
IGL03146:Adam6a APN 12 113,509,144 (GRCm39) missense probably damaging 1.00
IGL03176:Adam6a APN 12 113,509,822 (GRCm39) missense probably benign 0.00
IGL03365:Adam6a APN 12 113,507,765 (GRCm39) missense possibly damaging 0.86
IGL03373:Adam6a APN 12 113,509,172 (GRCm39) missense possibly damaging 0.55
PIT4802001:Adam6a UTSW 12 113,509,078 (GRCm39) missense probably damaging 1.00
R0091:Adam6a UTSW 12 113,507,849 (GRCm39) missense possibly damaging 0.46
R0149:Adam6a UTSW 12 113,509,369 (GRCm39) missense probably damaging 1.00
R0348:Adam6a UTSW 12 113,508,337 (GRCm39) missense probably damaging 0.99
R0376:Adam6a UTSW 12 113,508,310 (GRCm39) missense probably damaging 1.00
R1471:Adam6a UTSW 12 113,508,013 (GRCm39) missense probably damaging 1.00
R1474:Adam6a UTSW 12 113,508,069 (GRCm39) missense possibly damaging 0.66
R1553:Adam6a UTSW 12 113,508,835 (GRCm39) missense probably damaging 1.00
R1679:Adam6a UTSW 12 113,508,376 (GRCm39) missense probably benign 0.00
R1808:Adam6a UTSW 12 113,508,334 (GRCm39) missense probably benign 0.00
R1826:Adam6a UTSW 12 113,509,742 (GRCm39) missense possibly damaging 0.46
R1856:Adam6a UTSW 12 113,508,923 (GRCm39) missense probably damaging 1.00
R1916:Adam6a UTSW 12 113,509,556 (GRCm39) missense probably benign
R2011:Adam6a UTSW 12 113,508,998 (GRCm39) missense probably benign 0.09
R2049:Adam6a UTSW 12 113,508,049 (GRCm39) missense probably benign 0.17
R2364:Adam6a UTSW 12 113,508,250 (GRCm39) missense probably benign 0.05
R3820:Adam6a UTSW 12 113,507,798 (GRCm39) missense probably benign 0.00
R4119:Adam6a UTSW 12 113,508,194 (GRCm39) missense probably benign 0.06
R4540:Adam6a UTSW 12 113,508,119 (GRCm39) missense probably damaging 1.00
R4627:Adam6a UTSW 12 113,508,569 (GRCm39) missense probably benign
R4665:Adam6a UTSW 12 113,507,992 (GRCm39) missense possibly damaging 0.64
R4859:Adam6a UTSW 12 113,509,609 (GRCm39) missense probably damaging 1.00
R4997:Adam6a UTSW 12 113,508,991 (GRCm39) missense probably damaging 1.00
R5270:Adam6a UTSW 12 113,507,747 (GRCm39) missense possibly damaging 0.46
R5751:Adam6a UTSW 12 113,508,447 (GRCm39) missense possibly damaging 0.79
R5775:Adam6a UTSW 12 113,509,886 (GRCm39) missense possibly damaging 0.47
R5863:Adam6a UTSW 12 113,507,987 (GRCm39) missense probably benign 0.01
R6154:Adam6a UTSW 12 113,509,292 (GRCm39) missense probably benign 0.11
R6313:Adam6a UTSW 12 113,508,670 (GRCm39) missense possibly damaging 0.56
R6316:Adam6a UTSW 12 113,509,196 (GRCm39) missense probably benign 0.27
R6845:Adam6a UTSW 12 113,507,717 (GRCm39) missense possibly damaging 0.96
R7134:Adam6a UTSW 12 113,508,655 (GRCm39) missense probably benign 0.04
R7179:Adam6a UTSW 12 113,509,291 (GRCm39) missense probably benign 0.02
R7206:Adam6a UTSW 12 113,509,654 (GRCm39) missense probably damaging 1.00
R7230:Adam6a UTSW 12 113,509,202 (GRCm39) missense probably damaging 1.00
R7296:Adam6a UTSW 12 113,509,192 (GRCm39) missense probably damaging 1.00
R7676:Adam6a UTSW 12 113,508,196 (GRCm39) missense probably benign 0.00
R7730:Adam6a UTSW 12 113,507,660 (GRCm39) missense possibly damaging 0.86
R7743:Adam6a UTSW 12 113,508,152 (GRCm39) missense probably benign
R7841:Adam6a UTSW 12 113,509,078 (GRCm39) missense probably damaging 1.00
R8356:Adam6a UTSW 12 113,509,757 (GRCm39) missense probably benign 0.08
R8531:Adam6a UTSW 12 113,508,917 (GRCm39) missense probably damaging 1.00
R9568:Adam6a UTSW 12 113,508,020 (GRCm39) missense possibly damaging 0.74
R9624:Adam6a UTSW 12 113,509,070 (GRCm39) missense probably damaging 1.00
R9679:Adam6a UTSW 12 113,509,542 (GRCm39) missense probably benign 0.00
R9680:Adam6a UTSW 12 113,509,484 (GRCm39) nonsense probably null
X0027:Adam6a UTSW 12 113,508,863 (GRCm39) missense probably benign 0.01
Z1176:Adam6a UTSW 12 113,508,941 (GRCm39) missense possibly damaging 0.92
Predicted Primers PCR Primer
(F):5'- ATCTGCCAGAGAAGGAACAC -3'
(R):5'- TGGGCAAATGAACTTAGAGCC -3'

Sequencing Primer
(F):5'- GGAACACCTGCATCATGTTC -3'
(R):5'- TTAGAGCCACTACAGTACTCTGG -3'
Posted On 2018-07-24