Incidental Mutation 'R4027:Adam26b'
ID 313037
Institutional Source Beutler Lab
Gene Symbol Adam26b
Ensembl Gene ENSMUSG00000063900
Gene Name a disintegrin and metallopeptidase domain 26B
Synonyms
MMRRC Submission 040850-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # R4027 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 43972901-43981174 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 43973409 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 531 (N531S)
Ref Sequence ENSEMBL: ENSMUSP00000079032 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080135]
AlphaFold Q6IMH6
Predicted Effect probably benign
Transcript: ENSMUST00000080135
AA Change: N531S

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000079032
Gene: ENSMUSG00000063900
AA Change: N531S

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:Pep_M12B_propep 29 147 4.9e-18 PFAM
Pfam:Reprolysin_5 193 364 4.8e-15 PFAM
Pfam:Reprolysin_4 194 380 1.3e-8 PFAM
Pfam:Reprolysin 195 385 9.9e-50 PFAM
Pfam:Reprolysin_2 215 377 3.9e-15 PFAM
Pfam:Reprolysin_3 219 340 2e-15 PFAM
DISIN 401 476 5.88e-40 SMART
ACR 477 613 7.69e-64 SMART
low complexity region 631 642 N/A INTRINSIC
transmembrane domain 670 692 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.2%
Validation Efficiency 97% (60/62)
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402F06Rik A G 2: 35,270,408 (GRCm39) F98L probably damaging Het
Ahdc1 T C 4: 132,791,476 (GRCm39) S906P possibly damaging Het
Ank A G 15: 27,544,343 (GRCm39) N35D probably damaging Het
Ano10 A G 9: 122,081,994 (GRCm39) probably benign Het
Atp4a T C 7: 30,424,377 (GRCm39) probably null Het
C030005K15Rik T C 10: 97,561,404 (GRCm39) Y109C unknown Het
Carmil1 T A 13: 24,251,206 (GRCm39) probably benign Het
Ccl2 A G 11: 81,927,885 (GRCm39) R110G probably benign Het
Cntnap2 C A 6: 46,833,062 (GRCm39) F758L probably benign Het
Cog6 A C 3: 52,909,950 (GRCm39) D267E possibly damaging Het
Cyp4f37 G T 17: 32,850,646 (GRCm39) E366D probably benign Het
Dcun1d4 A G 5: 73,691,980 (GRCm39) D89G probably damaging Het
Dpep1 T C 8: 123,920,892 (GRCm39) V24A probably benign Het
Eefsec T C 6: 88,353,232 (GRCm39) I48V probably benign Het
Elmo2 G A 2: 165,136,169 (GRCm39) Q195* probably null Het
Ephb3 A G 16: 21,040,447 (GRCm39) D561G probably damaging Het
Erich2 C A 2: 70,343,134 (GRCm39) probably benign Het
Gatm A G 2: 122,427,927 (GRCm39) V362A probably damaging Het
Gdf10 A G 14: 33,654,572 (GRCm39) M360V probably damaging Het
Gpr141 T C 13: 19,935,995 (GRCm39) N260S probably benign Het
Hectd1 T A 12: 51,849,219 (GRCm39) probably null Het
Insrr A G 3: 87,716,906 (GRCm39) E682G probably benign Het
Itgax A G 7: 127,740,438 (GRCm39) I742V possibly damaging Het
Kcnh1 T C 1: 191,959,007 (GRCm39) V187A probably benign Het
Kdm6b G T 11: 69,297,094 (GRCm39) S419R possibly damaging Het
Kmt2a A T 9: 44,747,990 (GRCm39) probably benign Het
Krt10 A G 11: 99,277,019 (GRCm39) probably benign Het
Lct G A 1: 128,212,918 (GRCm39) R1912C probably benign Het
Lefty1 T C 1: 180,765,346 (GRCm39) S305P probably benign Het
Mast3 A G 8: 71,240,552 (GRCm39) L279P probably damaging Het
Mfsd4b3-ps T C 10: 39,823,343 (GRCm39) T306A probably benign Het
Mgam G A 6: 40,731,836 (GRCm39) R1351Q probably damaging Het
Mknk1 T A 4: 115,721,758 (GRCm39) F101I probably damaging Het
Mlc1 T C 15: 88,850,697 (GRCm39) I154V probably benign Het
Myo5b T C 18: 74,892,311 (GRCm39) I1685T possibly damaging Het
Nacc2 T A 2: 25,950,348 (GRCm39) M463L probably benign Het
Nek11 A C 9: 105,121,589 (GRCm39) Y443* probably null Het
Nme4 T C 17: 26,313,196 (GRCm39) probably null Het
Nova1 A G 12: 46,863,801 (GRCm39) probably benign Het
Or52h9 A T 7: 104,202,530 (GRCm39) I135F possibly damaging Het
Parp10 A G 15: 76,125,354 (GRCm39) probably null Het
Pkd1l3 T A 8: 110,350,603 (GRCm39) S483T possibly damaging Het
Plce1 T C 19: 38,512,709 (GRCm39) S3P probably damaging Het
Pnldc1 T C 17: 13,109,666 (GRCm39) D400G probably benign Het
Polr2b G A 5: 77,496,252 (GRCm39) R1141H possibly damaging Het
Prmt6 A G 3: 110,157,257 (GRCm39) I344T probably damaging Het
Psmd2 G A 16: 20,481,955 (GRCm39) G896D probably damaging Het
Ranbp17 C T 11: 33,450,718 (GRCm39) R73Q possibly damaging Het
Rcn1 G T 2: 105,229,395 (GRCm39) Y52* probably null Het
Reck T C 4: 43,922,931 (GRCm39) I402T probably damaging Het
Tecpr1 C A 5: 144,143,077 (GRCm39) A735S probably benign Het
Tshz1 T C 18: 84,032,954 (GRCm39) K485E possibly damaging Het
Ube4a G A 9: 44,861,198 (GRCm39) probably benign Het
Vldlr A G 19: 27,215,713 (GRCm39) T237A probably benign Het
Vmn1r74 C A 7: 11,580,898 (GRCm39) T66K probably damaging Het
Wdr49 C A 3: 75,230,972 (GRCm39) L563F probably benign Het
Zmym1 C T 4: 126,943,672 (GRCm39) V239I probably benign Het
Zmym5 T A 14: 57,035,268 (GRCm39) T267S probably benign Het
Other mutations in Adam26b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00703:Adam26b APN 8 43,973,216 (GRCm39) missense probably damaging 1.00
IGL00806:Adam26b APN 8 43,974,379 (GRCm39) missense probably damaging 1.00
IGL00984:Adam26b APN 8 43,973,410 (GRCm39) missense possibly damaging 0.86
IGL01081:Adam26b APN 8 43,972,975 (GRCm39) missense probably benign 0.00
IGL01783:Adam26b APN 8 43,974,798 (GRCm39) missense probably benign 0.30
IGL02021:Adam26b APN 8 43,972,909 (GRCm39) missense probably benign
IGL02707:Adam26b APN 8 43,972,895 (GRCm39) utr 3 prime probably benign
IGL03112:Adam26b APN 8 43,974,549 (GRCm39) missense probably benign
R0195:Adam26b UTSW 8 43,973,307 (GRCm39) missense probably damaging 0.99
R0453:Adam26b UTSW 8 43,973,387 (GRCm39) missense probably benign 0.00
R0562:Adam26b UTSW 8 43,973,408 (GRCm39) missense probably benign 0.36
R0645:Adam26b UTSW 8 43,973,524 (GRCm39) missense probably damaging 1.00
R0763:Adam26b UTSW 8 43,973,601 (GRCm39) missense probably damaging 1.00
R1697:Adam26b UTSW 8 43,974,000 (GRCm39) missense probably damaging 0.98
R1739:Adam26b UTSW 8 43,974,714 (GRCm39) missense probably damaging 1.00
R1751:Adam26b UTSW 8 43,972,948 (GRCm39) missense probably benign 0.00
R1767:Adam26b UTSW 8 43,972,948 (GRCm39) missense probably benign 0.00
R1994:Adam26b UTSW 8 43,973,676 (GRCm39) missense probably benign 0.44
R3747:Adam26b UTSW 8 43,974,234 (GRCm39) missense probably benign 0.07
R3748:Adam26b UTSW 8 43,974,234 (GRCm39) missense probably benign 0.07
R3750:Adam26b UTSW 8 43,974,234 (GRCm39) missense probably benign 0.07
R3771:Adam26b UTSW 8 43,973,751 (GRCm39) missense probably damaging 1.00
R4652:Adam26b UTSW 8 43,974,375 (GRCm39) missense possibly damaging 0.49
R4790:Adam26b UTSW 8 43,973,764 (GRCm39) missense probably benign 0.19
R4859:Adam26b UTSW 8 43,973,296 (GRCm39) missense possibly damaging 0.80
R5059:Adam26b UTSW 8 43,973,637 (GRCm39) missense probably damaging 1.00
R5191:Adam26b UTSW 8 43,973,028 (GRCm39) missense probably damaging 1.00
R5540:Adam26b UTSW 8 43,974,654 (GRCm39) missense probably damaging 1.00
R5568:Adam26b UTSW 8 43,973,529 (GRCm39) missense probably benign 0.00
R5886:Adam26b UTSW 8 43,973,310 (GRCm39) missense possibly damaging 0.72
R5935:Adam26b UTSW 8 43,974,335 (GRCm39) missense probably benign 0.00
R5983:Adam26b UTSW 8 43,974,378 (GRCm39) missense probably damaging 1.00
R6544:Adam26b UTSW 8 43,974,818 (GRCm39) missense probably damaging 0.98
R6610:Adam26b UTSW 8 43,974,190 (GRCm39) missense probably damaging 1.00
R6668:Adam26b UTSW 8 43,973,727 (GRCm39) missense possibly damaging 0.72
R6966:Adam26b UTSW 8 43,974,472 (GRCm39) missense possibly damaging 0.51
R7545:Adam26b UTSW 8 43,974,750 (GRCm39) missense probably damaging 0.98
R7596:Adam26b UTSW 8 43,973,237 (GRCm39) missense probably benign
R7634:Adam26b UTSW 8 43,974,034 (GRCm39) missense probably benign
R7657:Adam26b UTSW 8 43,974,579 (GRCm39) missense possibly damaging 0.95
R7692:Adam26b UTSW 8 43,973,832 (GRCm39) missense probably benign 0.00
R7769:Adam26b UTSW 8 43,974,732 (GRCm39) missense probably benign 0.00
R7912:Adam26b UTSW 8 43,973,245 (GRCm39) missense probably benign 0.13
R7918:Adam26b UTSW 8 43,974,138 (GRCm39) missense probably benign 0.14
R8286:Adam26b UTSW 8 43,972,998 (GRCm39) missense probably benign 0.05
R8897:Adam26b UTSW 8 43,974,009 (GRCm39) missense possibly damaging 0.91
R8922:Adam26b UTSW 8 43,973,216 (GRCm39) missense probably damaging 1.00
R9075:Adam26b UTSW 8 43,973,405 (GRCm39) missense probably benign 0.07
R9225:Adam26b UTSW 8 43,973,453 (GRCm39) nonsense probably null
X0066:Adam26b UTSW 8 43,973,041 (GRCm39) missense probably damaging 0.97
Z1088:Adam26b UTSW 8 43,973,634 (GRCm39) missense probably damaging 0.99
Z1177:Adam26b UTSW 8 43,974,459 (GRCm39) missense probably benign 0.03
Z1177:Adam26b UTSW 8 43,973,735 (GRCm39) missense probably benign 0.24
Predicted Primers PCR Primer
(F):5'- AGCTCCAATATCATCTATGGTGATCC -3'
(R):5'- CTTCCAGAGTGGTGCAATGG -3'

Sequencing Primer
(F):5'- TGGTGATCCCAAAATGATAGTCC -3'
(R):5'- AACTTCAGCTGAGTGTCCAG -3'
Posted On 2015-04-30