Incidental Mutation 'IGL00896:Adam6a'
ID28691
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adam6a
Ensembl Gene ENSMUSG00000043945
Gene Namea disintegrin and metallopeptidase domain 6A
SynonymsAdam6
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.178) question?
Stock #IGL00896
Quality Score
Status
Chromosome12
Chromosomal Location113543908-113546465 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 113545410 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 468 (T468A)
Ref Sequence ENSEMBL: ENSMUSP00000059315 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053086]
Predicted Effect possibly damaging
Transcript: ENSMUST00000053086
AA Change: T468A

PolyPhen 2 Score 0.560 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000059315
Gene: ENSMUSG00000043945
AA Change: T468A

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
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik A G 3: 37,039,462 T4352A probably benign Het
Ankrd35 A G 3: 96,684,276 E626G probably damaging Het
Arhgef4 A G 1: 34,811,696 Y1812C possibly damaging Het
Aurkc T C 7: 7,002,514 Y260H possibly damaging Het
Cpb1 A G 3: 20,252,029 V329A probably benign Het
Cyp2d11 G T 15: 82,391,074 probably benign Het
Dnase1 G A 16: 4,039,212 S28N probably benign Het
Evpl C A 11: 116,222,584 E1427* probably null Het
Gimap6 T C 6: 48,702,460 N214S probably benign Het
Htr1f A T 16: 64,926,106 H274Q probably benign Het
Ipo9 A T 1: 135,400,059 V538E probably damaging Het
Lmf2 T C 15: 89,353,336 K308E probably benign Het
Mog T A 17: 37,017,485 probably null Het
Myo19 T C 11: 84,909,498 V903A probably benign Het
Myt1l A G 12: 29,826,886 T179A unknown Het
Nckap1 C T 2: 80,580,953 V5M possibly damaging Het
Olfr382 T C 11: 73,516,341 N286S probably damaging Het
Olfr459 A T 6: 41,772,113 L62Q probably damaging Het
Olfr630 T C 7: 103,755,006 D193G probably damaging Het
Pcdhb5 T G 18: 37,322,785 probably null Het
Pcm1 C A 8: 41,276,123 Q711K possibly damaging Het
Pde6a A G 18: 61,220,792 D63G possibly damaging Het
Piezo1 T C 8: 122,497,870 M711V possibly damaging Het
Prrxl1 C T 14: 32,605,214 probably benign Het
Rev1 G A 1: 38,098,940 T88I probably damaging Het
Sntg1 A T 1: 8,595,410 probably null Het
Sult2a1 T A 7: 13,832,640 T137S probably benign Het
Txndc15 G A 13: 55,725,675 A283T probably damaging Het
Zswim8 A G 14: 20,716,001 E785G probably damaging Het
Other mutations in Adam6a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00580:Adam6a APN 12 113545225 missense probably benign 0.00
IGL01146:Adam6a APN 12 113544220 missense probably damaging 1.00
IGL01285:Adam6a APN 12 113546273 makesense probably null
IGL01839:Adam6a APN 12 113544622 missense probably benign 0.03
IGL01906:Adam6a APN 12 113544331 missense probably benign 0.19
IGL02306:Adam6a APN 12 113545723 missense possibly damaging 0.93
IGL03146:Adam6a APN 12 113545524 missense probably damaging 1.00
IGL03176:Adam6a APN 12 113546202 missense probably benign 0.00
IGL03365:Adam6a APN 12 113544145 missense possibly damaging 0.86
IGL03373:Adam6a APN 12 113545552 missense possibly damaging 0.55
PIT4802001:Adam6a UTSW 12 113545458 missense probably damaging 1.00
R0091:Adam6a UTSW 12 113544229 missense possibly damaging 0.46
R0149:Adam6a UTSW 12 113545749 missense probably damaging 1.00
R0348:Adam6a UTSW 12 113544717 missense probably damaging 0.99
R0376:Adam6a UTSW 12 113544690 missense probably damaging 1.00
R1471:Adam6a UTSW 12 113544393 missense probably damaging 1.00
R1474:Adam6a UTSW 12 113544449 missense possibly damaging 0.66
R1553:Adam6a UTSW 12 113545215 missense probably damaging 1.00
R1679:Adam6a UTSW 12 113544756 missense probably benign 0.00
R1808:Adam6a UTSW 12 113544714 missense probably benign 0.00
R1826:Adam6a UTSW 12 113546122 missense possibly damaging 0.46
R1856:Adam6a UTSW 12 113545303 missense probably damaging 1.00
R1916:Adam6a UTSW 12 113545936 missense probably benign
R2011:Adam6a UTSW 12 113545378 missense probably benign 0.09
R2049:Adam6a UTSW 12 113544429 missense probably benign 0.17
R2364:Adam6a UTSW 12 113544630 missense probably benign 0.05
R3820:Adam6a UTSW 12 113544178 missense probably benign 0.00
R4119:Adam6a UTSW 12 113544574 missense probably benign 0.06
R4540:Adam6a UTSW 12 113544499 missense probably damaging 1.00
R4627:Adam6a UTSW 12 113544949 missense probably benign
R4665:Adam6a UTSW 12 113544372 missense possibly damaging 0.64
R4859:Adam6a UTSW 12 113545989 missense probably damaging 1.00
R4997:Adam6a UTSW 12 113545371 missense probably damaging 1.00
R5270:Adam6a UTSW 12 113544127 missense possibly damaging 0.46
R5751:Adam6a UTSW 12 113544827 missense possibly damaging 0.79
R5775:Adam6a UTSW 12 113546266 missense possibly damaging 0.47
R5863:Adam6a UTSW 12 113544367 missense probably benign 0.01
R6154:Adam6a UTSW 12 113545672 missense probably benign 0.11
R6313:Adam6a UTSW 12 113545050 missense possibly damaging 0.56
R6316:Adam6a UTSW 12 113545576 missense probably benign 0.27
R6706:Adam6a UTSW 12 113545266 missense probably benign 0.00
R6845:Adam6a UTSW 12 113544097 missense possibly damaging 0.96
R7134:Adam6a UTSW 12 113545035 missense probably benign 0.04
X0027:Adam6a UTSW 12 113545243 missense probably benign 0.01
Posted On2013-04-17