Incidental Mutation 'IGL03146:Adam6a'
ID410896
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 #IGL03146
Quality Score
Status
Chromosome12
Chromosomal Location113543908-113546465 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 113545524 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 506 (T506S)
Ref Sequence ENSEMBL: ENSMUSP00000059315 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053086]
Predicted Effect probably damaging
Transcript: ENSMUST00000053086
AA Change: T506S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000059315
Gene: ENSMUSG00000043945
AA Change: T506S

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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921507P07Rik A T 6: 50,573,873 V532E probably damaging Het
Adam5 T C 8: 24,804,503 D360G probably damaging Het
Adamts15 A G 9: 30,921,567 V224A probably damaging Het
Arhgef12 G T 9: 42,974,570 D1251E possibly damaging Het
Ccdc180 G T 4: 45,903,840 probably benign Het
Ccdc85c G A 12: 108,207,136 R387* probably null Het
Cfap57 T A 4: 118,599,019 I493F probably damaging Het
Chst9 A G 18: 15,452,978 I176T probably damaging Het
Clpx G T 9: 65,326,830 V572L probably benign Het
Csmd3 T A 15: 47,881,477 N1374I probably benign Het
Cyp2e1 T A 7: 140,770,221 M273K probably benign Het
Ehbp1l1 T C 19: 5,720,033 E414G probably benign Het
Ehd1 T C 19: 6,277,338 F122L probably damaging Het
Fcho1 A G 8: 71,717,430 probably benign Het
Fermt3 T C 19: 7,003,263 E312G possibly damaging Het
Fut2 C T 7: 45,650,769 G193E possibly damaging Het
G3bp2 G A 5: 92,066,540 R132C probably damaging Het
Inpp4b A T 8: 81,743,781 I35F possibly damaging Het
Izumo3 T G 4: 92,145,039 I107L probably damaging Het
Lama3 C A 18: 12,527,624 Q484K possibly damaging Het
Lyl1 C T 8: 84,702,671 P3L possibly damaging Het
Mapkbp1 T C 2: 119,998,474 probably benign Het
Mast4 T C 13: 102,737,655 N1735S probably benign Het
Olfr1186 T A 2: 88,526,144 M187K possibly damaging Het
Olfr298 T C 7: 86,489,194 D119G probably damaging Het
Oxct1 T C 15: 4,101,148 L374P probably damaging Het
Parp14 G A 16: 35,858,453 Q382* probably null Het
Pax2 A G 19: 44,833,275 probably benign Het
Prkaa1 T C 15: 5,168,641 V146A probably damaging Het
Ptprb C T 10: 116,328,127 A900V probably benign Het
Rgs6 A T 12: 83,052,538 D130V probably damaging Het
Ryr1 C A 7: 29,094,032 R1344L probably benign Het
Scgb1b12 C A 7: 32,334,544 D76E possibly damaging Het
Sel1l3 T A 5: 53,154,243 E633D probably benign Het
Slc1a7 T A 4: 107,992,992 I100N probably damaging Het
Slc25a35 A G 11: 68,968,852 K64E possibly damaging Het
Stil C A 4: 115,024,415 Q719K probably damaging Het
Stim1 T A 7: 102,421,355 L265Q probably damaging Het
Tcrg-V3 C A 13: 19,243,167 Y73* probably null Het
Tmem191c A G 16: 17,277,382 E169G probably damaging Het
Tmem255b T C 8: 13,454,174 L101P probably damaging Het
Zfyve26 G A 12: 79,284,072 Q458* probably null Het
Other mutations in Adam6a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00580:Adam6a APN 12 113545225 missense probably benign 0.00
IGL00896:Adam6a APN 12 113545410 missense possibly damaging 0.56
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
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 On2016-08-02