Incidental Mutation 'R7053:Adam26a'
ID 547715
Institutional Source Beutler Lab
Gene Symbol Adam26a
Ensembl Gene ENSMUSG00000048516
Gene Name ADAM metallopeptidase domain 26A
Synonyms Dtgn4, Adam26
MMRRC Submission 045150-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7053 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 44021315-44029744 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 44021836 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 551 (C551*)
Ref Sequence ENSEMBL: ENSMUSP00000058256 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049577]
AlphaFold Q9R158
Predicted Effect probably null
Transcript: ENSMUST00000049577
AA Change: C551*
SMART Domains Protein: ENSMUSP00000058256
Gene: ENSMUSG00000048516
AA Change: C551*

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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh1l1 C A 6: 90,540,420 (GRCm39) T235K possibly damaging Het
Atp6v0a2 A G 5: 124,783,923 (GRCm39) E257G probably damaging Het
AW146154 A G 7: 41,131,988 (GRCm39) probably null Het
BC048507 T C 13: 68,011,772 (GRCm39) Y50H probably benign Het
Brip1 T C 11: 86,083,791 (GRCm39) N77D possibly damaging Het
Ccdc13 T C 9: 121,662,904 (GRCm39) E37G probably damaging Het
Ccn6 A G 10: 39,034,297 (GRCm39) Y102H probably damaging Het
Col27a1 T A 4: 63,251,404 (GRCm39) probably benign Het
Corin T A 5: 72,458,870 (GRCm39) I960L probably benign Het
Csnk2b A G 17: 35,335,422 (GRCm39) probably benign Het
Cyp2d26 T C 15: 82,676,801 (GRCm39) S182G probably benign Het
Dennd1a A G 2: 37,851,666 (GRCm39) L74P probably damaging Het
Dip2c A G 13: 9,660,740 (GRCm39) D838G probably damaging Het
Dkkl1 G T 7: 44,857,022 (GRCm39) Q182K probably damaging Het
Dnai2 T C 11: 114,629,521 (GRCm39) S183P probably damaging Het
Dnhd1 T C 7: 105,344,161 (GRCm39) L1835P probably damaging Het
Espl1 T C 15: 102,225,328 (GRCm39) probably null Het
Fam174a C T 1: 95,252,953 (GRCm39) A185V probably damaging Het
Fhip1b C T 7: 105,033,779 (GRCm39) G479D probably damaging Het
Gm40460 CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 141,794,554 (GRCm39) probably benign Het
Grid2 G T 6: 64,677,402 (GRCm39) A74S unknown Het
Gsdma3 T A 11: 98,520,621 (GRCm39) M84K possibly damaging Het
Hlcs A T 16: 94,068,874 (GRCm39) S262R possibly damaging Het
Lrp1 A G 10: 127,376,963 (GRCm39) C4205R probably damaging Het
Mdc1 C T 17: 36,157,218 (GRCm39) A181V probably benign Het
Mdga2 T A 12: 66,736,158 (GRCm39) I357F probably benign Het
Mfn1 A G 3: 32,586,114 (GRCm39) I21V probably benign Het
Mgat4b C T 11: 50,124,367 (GRCm39) T409M probably damaging Het
Mgat4d G T 8: 84,098,261 (GRCm39) K341N probably damaging Het
Mpo A T 11: 87,694,336 (GRCm39) N109Y probably damaging Het
Mvp T C 7: 126,586,776 (GRCm39) Q785R possibly damaging Het
Nim1k A G 13: 120,189,145 (GRCm39) V88A probably damaging Het
Oasl2 A T 5: 115,049,291 (GRCm39) I464L possibly damaging Het
Or5m11b G T 2: 85,806,358 (GRCm39) C257F possibly damaging Het
Pkd1l2 A G 8: 117,740,681 (GRCm39) F2139L probably damaging Het
Pop1 T G 15: 34,530,421 (GRCm39) S940A probably benign Het
Ppp1r9a T A 6: 4,905,670 (GRCm39) M75K probably damaging Het
Prdm15 G A 16: 97,595,742 (GRCm39) Q1029* probably null Het
Rffl T C 11: 82,703,497 (GRCm39) K142R probably null Het
Rhou A G 8: 124,380,934 (GRCm39) probably benign Het
Rp1l1 A T 14: 64,268,958 (GRCm39) T1515S possibly damaging Het
Serpina1b T A 12: 103,698,688 (GRCm39) S54C possibly damaging Het
Slc30a2 G A 4: 134,074,726 (GRCm39) R161Q probably damaging Het
Taok3 T A 5: 117,390,627 (GRCm39) D529E probably benign Het
Tmem18 T A 12: 30,634,506 (GRCm39) M1K probably null Het
Tmem269 T A 4: 119,066,464 (GRCm39) H198L probably damaging Het
Tnrc18 A G 5: 142,772,984 (GRCm39) V432A unknown Het
Ttc6 A T 12: 57,707,318 (GRCm39) T742S probably benign Het
Uhrf2 T A 19: 30,069,519 (GRCm39) C749S probably damaging Het
Unc13c G A 9: 73,839,579 (GRCm39) T424I probably damaging Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Vmn2r61 A C 7: 41,916,557 (GRCm39) D390A probably damaging Het
Xpo7 A G 14: 70,922,298 (GRCm39) probably null Het
Zfp948 T A 17: 21,805,121 (GRCm39) L37* probably null 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
IGL02030:Adam26a APN 8 44,021,894 (GRCm39) missense probably benign 0.00
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
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
Predicted Primers PCR Primer
(F):5'- CTGACACACTTTCTGTCAACAC -3'
(R):5'- GAATCCCTTGCAGTGGTGAG -3'

Sequencing Primer
(F):5'- CTGTCAACACATATATGGTCTGGAGC -3'
(R):5'- GGGCTATTGCTATAAAATGGAATGTC -3'
Posted On 2019-05-13