Incidental Mutation 'IGL02030:Adam26a'
ID 184322
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adam26a
Ensembl Gene ENSMUSG00000048516
Gene Name ADAM metallopeptidase domain 26A
Synonyms Dtgn4, Adam26
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02030
Quality Score
Status
Chromosome 8
Chromosomal Location 44021315-44029744 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 44021894 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 532 (D532G)
Ref Sequence ENSEMBL: ENSMUSP00000058256 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049577]
AlphaFold Q9R158
Predicted Effect probably benign
Transcript: ENSMUST00000049577
AA Change: D532G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000058256
Gene: ENSMUSG00000048516
AA Change: D532G

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:Pep_M12B_propep 29 147 2.1e-18 PFAM
Pfam:Reprolysin_5 193 364 4.8e-15 PFAM
Pfam:Reprolysin_4 194 380 2.2e-9 PFAM
Pfam:Reprolysin 195 385 2.7e-48 PFAM
Pfam:Reprolysin_2 215 377 2.4e-16 PFAM
Pfam:Reprolysin_3 219 340 1.2e-15 PFAM
DISIN 401 476 2.98e-41 SMART
ACR 477 613 2.06e-64 SMART
transmembrane domain 671 693 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of a disintegrin and metalloprotease (ADAM) family of endoproteases that play important roles in various biological processes including cell signaling, adhesion and migration. This gene is expressed in a regulated fashion during the late stages of spermatogenesis. The encoded preproprotein undergoes proteolytic processing to generate a mature, functional metalloprotease enzyme. This gene is located adjacent to two other ADAM genes on chromosome 8. [provided by RefSeq, May 2016]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam29 C T 8: 56,325,157 (GRCm39) M432I probably benign Het
Cbs A G 17: 31,844,463 (GRCm39) probably null Het
Ccer1 A G 10: 97,529,472 (GRCm39) Y45C unknown Het
Clu G A 14: 66,213,240 (GRCm39) G209S probably benign Het
Ddx17 T C 15: 79,414,577 (GRCm39) D530G probably benign Het
Ddx4 T C 13: 112,761,311 (GRCm39) probably benign Het
Fry C T 5: 150,395,083 (GRCm39) probably benign Het
Fut10 C T 8: 31,726,006 (GRCm39) Q254* probably null Het
Gucy2e A G 11: 69,114,642 (GRCm39) F1002S probably damaging Het
Hsd3b6 T C 3: 98,713,489 (GRCm39) Y270C probably benign Het
Jup A G 11: 100,267,817 (GRCm39) I502T probably damaging Het
Lrrc71 T A 3: 87,652,531 (GRCm39) probably null Het
Mei1 T C 15: 81,999,944 (GRCm39) V1127A probably benign Het
Ncstn A T 1: 171,900,024 (GRCm39) probably benign Het
Nin T C 12: 70,092,042 (GRCm39) R756G probably damaging Het
Notch2 C A 3: 98,006,737 (GRCm39) probably null Het
Oacyl T C 18: 65,870,981 (GRCm39) V394A probably damaging Het
Or1j19 A G 2: 36,677,410 (GRCm39) Y291C probably damaging Het
Or5b21 T C 19: 12,839,799 (GRCm39) F220S probably benign Het
Or6b13 A G 7: 139,782,545 (GRCm39) I46T probably damaging Het
Parn A G 16: 13,482,514 (GRCm39) probably null Het
Rspo3 T G 10: 29,376,044 (GRCm39) E173A probably damaging Het
Rusc2 T A 4: 43,416,095 (GRCm39) V467E possibly damaging Het
Sema7a G A 9: 57,862,423 (GRCm39) E209K possibly damaging Het
Uchl4 T C 9: 64,142,911 (GRCm39) S131P probably benign Het
Usp54 T C 14: 20,616,014 (GRCm39) I769V probably benign Het
Xirp2 T C 2: 67,339,325 (GRCm39) M522T probably benign Het
Other mutations in Adam26a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00499:Adam26a APN 8 44,021,896 (GRCm39) missense possibly damaging 0.75
IGL00519:Adam26a APN 8 44,022,562 (GRCm39) missense probably damaging 1.00
IGL00658:Adam26a APN 8 44,021,940 (GRCm39) missense probably benign 0.00
IGL01514:Adam26a APN 8 44,021,485 (GRCm39) missense probably benign
IGL01988:Adam26a APN 8 44,022,207 (GRCm39) missense possibly damaging 0.68
IGL02081:Adam26a APN 8 44,023,233 (GRCm39) missense probably damaging 0.99
IGL02444:Adam26a APN 8 44,022,710 (GRCm39) missense possibly damaging 0.46
IGL02734:Adam26a APN 8 44,022,812 (GRCm39) missense probably benign 0.27
IGL03243:Adam26a APN 8 44,021,733 (GRCm39) missense probably benign 0.14
IGL03350:Adam26a APN 8 44,022,589 (GRCm39) nonsense probably null
R0206:Adam26a UTSW 8 44,023,455 (GRCm39) missense possibly damaging 0.81
R0206:Adam26a UTSW 8 44,023,455 (GRCm39) missense possibly damaging 0.81
R0324:Adam26a UTSW 8 44,021,490 (GRCm39) missense probably benign
R0830:Adam26a UTSW 8 44,021,439 (GRCm39) missense probably benign 0.23
R0960:Adam26a UTSW 8 44,021,800 (GRCm39) missense probably damaging 1.00
R1259:Adam26a UTSW 8 44,021,750 (GRCm39) missense possibly damaging 0.95
R1259:Adam26a UTSW 8 44,021,684 (GRCm39) missense probably benign 0.20
R1403:Adam26a UTSW 8 44,022,229 (GRCm39) nonsense probably null
R1403:Adam26a UTSW 8 44,022,229 (GRCm39) nonsense probably null
R1719:Adam26a UTSW 8 44,023,073 (GRCm39) missense possibly damaging 0.93
R1750:Adam26a UTSW 8 44,023,226 (GRCm39) missense possibly damaging 0.90
R1860:Adam26a UTSW 8 44,022,578 (GRCm39) missense possibly damaging 0.66
R1861:Adam26a UTSW 8 44,022,578 (GRCm39) missense possibly damaging 0.66
R1875:Adam26a UTSW 8 44,022,888 (GRCm39) missense probably benign 0.37
R3959:Adam26a UTSW 8 44,022,908 (GRCm39) missense probably benign 0.00
R4355:Adam26a UTSW 8 44,023,222 (GRCm39) missense probably benign 0.35
R4604:Adam26a UTSW 8 44,023,088 (GRCm39) missense probably benign 0.02
R4612:Adam26a UTSW 8 44,021,830 (GRCm39) missense probably damaging 0.99
R4909:Adam26a UTSW 8 44,023,475 (GRCm39) missense probably benign 0.08
R4937:Adam26a UTSW 8 44,021,918 (GRCm39) missense probably damaging 1.00
R5112:Adam26a UTSW 8 44,021,893 (GRCm39) missense probably benign 0.04
R5276:Adam26a UTSW 8 44,023,457 (GRCm39) missense probably benign 0.30
R5406:Adam26a UTSW 8 44,022,141 (GRCm39) missense probably damaging 1.00
R5501:Adam26a UTSW 8 44,022,941 (GRCm39) nonsense probably null
R5955:Adam26a UTSW 8 44,022,889 (GRCm39) missense probably benign 0.11
R6262:Adam26a UTSW 8 44,022,125 (GRCm39) missense possibly damaging 0.91
R6847:Adam26a UTSW 8 44,021,465 (GRCm39) missense probably benign 0.23
R6957:Adam26a UTSW 8 44,021,940 (GRCm39) missense probably benign 0.00
R7053:Adam26a UTSW 8 44,021,836 (GRCm39) nonsense probably null
R7287:Adam26a UTSW 8 44,023,380 (GRCm39) missense possibly damaging 0.95
R7393:Adam26a UTSW 8 44,022,725 (GRCm39) missense probably benign 0.01
R7477:Adam26a UTSW 8 44,022,107 (GRCm39) missense probably damaging 1.00
R7552:Adam26a UTSW 8 44,023,007 (GRCm39) missense possibly damaging 0.77
R7670:Adam26a UTSW 8 44,023,190 (GRCm39) missense probably benign 0.13
R7918:Adam26a UTSW 8 44,022,566 (GRCm39) missense probably damaging 0.98
R8193:Adam26a UTSW 8 44,022,273 (GRCm39) missense probably damaging 1.00
R8262:Adam26a UTSW 8 44,022,178 (GRCm39) nonsense probably null
R8987:Adam26a UTSW 8 44,022,358 (GRCm39) missense probably benign 0.02
R9104:Adam26a UTSW 8 44,023,108 (GRCm39) missense probably damaging 0.99
R9350:Adam26a UTSW 8 44,022,669 (GRCm39) missense probably benign 0.00
R9487:Adam26a UTSW 8 44,022,456 (GRCm39) missense possibly damaging 0.49
R9550:Adam26a UTSW 8 44,022,120 (GRCm39) missense probably damaging 1.00
R9762:Adam26a UTSW 8 44,021,635 (GRCm39) missense probably benign 0.00
Z1088:Adam26a UTSW 8 44,022,735 (GRCm39) missense probably damaging 1.00
Posted On 2014-05-07