Incidental Mutation 'R4732:Adam1a'
ID 359054
Institutional Source Beutler Lab
Gene Symbol Adam1a
Ensembl Gene ENSMUSG00000072647
Gene Name a disintegrin and metallopeptidase domain 1a
Synonyms fertilin alpha, Ftna, PH-30 alpha
MMRRC Submission 042022-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R4732 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 121656667-121659758 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 121657497 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 599 (T599S)
Ref Sequence ENSEMBL: ENSMUSP00000098320 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100757] [ENSMUST00000111795] [ENSMUST00000125946] [ENSMUST00000156080] [ENSMUST00000200170]
AlphaFold Q60813
Predicted Effect probably benign
Transcript: ENSMUST00000100757
AA Change: T599S

PolyPhen 2 Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000098320
Gene: ENSMUSG00000072647
AA Change: T599S

DomainStartEndE-ValueType
Pfam:Pep_M12B_propep 70 191 1.5e-18 PFAM
Pfam:Reprolysin_5 233 410 2.8e-15 PFAM
Pfam:Reprolysin_4 234 421 6.3e-9 PFAM
Pfam:Reprolysin 235 429 1.3e-70 PFAM
Pfam:Reprolysin_3 255 381 3.8e-14 PFAM
Pfam:Reprolysin_2 255 419 5.6e-9 PFAM
DISIN 447 520 6.45e-37 SMART
ACR 521 660 4.59e-62 SMART
EGF 666 697 1.99e1 SMART
transmembrane domain 741 763 N/A INTRINSIC
low complexity region 764 791 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000111795
SMART Domains Protein: ENSMUSP00000144614
Gene: ENSMUSG00000029452

DomainStartEndE-ValueType
transmembrane domain 50 72 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000125946
SMART Domains Protein: ENSMUSP00000142503
Gene: ENSMUSG00000105340

DomainStartEndE-ValueType
S_TKc 22 304 5.3e-84 SMART
coiled coil region 407 432 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000156080
SMART Domains Protein: ENSMUSP00000121579
Gene: ENSMUSG00000029452

DomainStartEndE-ValueType
transmembrane domain 23 45 N/A INTRINSIC
transmembrane domain 57 79 N/A INTRINSIC
transmembrane domain 94 116 N/A INTRINSIC
transmembrane domain 140 162 N/A INTRINSIC
transmembrane domain 205 227 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000200170
SMART Domains Protein: ENSMUSP00000143668
Gene: ENSMUSG00000072647

DomainStartEndE-ValueType
S_TKc 22 304 8.22e-84 SMART
coiled coil region 407 432 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 99% (110/111)
MGI Phenotype PHENOTYPE: Homozygous null mice display male infertility with asthenozoospermia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 192 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700128F08Rik T A 9: 8,222,174 (GRCm39) noncoding transcript Het
4933409G03Rik A G 2: 68,445,065 (GRCm39) probably benign Het
Acan T C 7: 78,748,357 (GRCm39) S1043P probably damaging Het
Ackr2 A G 9: 121,738,249 (GRCm39) Y208C probably damaging Het
Actg1 C T 11: 120,238,305 (GRCm39) probably benign Het
Actmap T A 7: 26,900,468 (GRCm39) M149K probably damaging Het
Adamts12 A T 15: 11,270,748 (GRCm39) S668C probably damaging Het
Adcy8 A G 15: 64,626,711 (GRCm39) V709A possibly damaging Het
Adgrf2 A C 17: 43,021,645 (GRCm39) I393S probably damaging Het
Ahnak G T 19: 8,984,665 (GRCm39) G1983V probably damaging Het
Aim2 T A 1: 173,291,442 (GRCm39) D282E possibly damaging Het
Ak8 A G 2: 28,650,083 (GRCm39) Y370C probably damaging Het
Akap9 A G 5: 4,063,901 (GRCm39) D1750G probably damaging Het
Als2cl T A 9: 110,718,204 (GRCm39) V315E probably damaging Het
Ankrd28 A C 14: 31,477,698 (GRCm39) C115G probably benign Het
Ap3b2 C T 7: 81,121,680 (GRCm39) A519T probably damaging Het
Apool C T X: 111,281,897 (GRCm39) T166I probably damaging Het
Arhgef2 A T 3: 88,539,247 (GRCm39) K65* probably null Het
Arhgef38 G T 3: 132,838,030 (GRCm39) Y633* probably null Het
Asah2 T C 19: 31,972,758 (GRCm39) N659S probably benign Het
Atf7ip2 A G 16: 10,059,750 (GRCm39) D430G possibly damaging Het
Atp8a1 G A 5: 67,970,463 (GRCm39) S92L probably benign Het
Bag4 C T 8: 26,259,516 (GRCm39) A228T probably benign Het
C130073F10Rik C A 4: 101,747,907 (GRCm39) S89I probably benign Het
Cacna1g T C 11: 94,334,041 (GRCm39) T867A probably damaging Het
Ccdc88a T G 11: 29,435,906 (GRCm39) N1276K probably benign Het
Cdc42bpg T A 19: 6,361,221 (GRCm39) V282E probably damaging Het
Cdipt T A 7: 126,577,530 (GRCm39) L92H probably damaging Het
Celsr2 T A 3: 108,306,268 (GRCm39) D2012V probably damaging Het
Cenpt A G 8: 106,573,768 (GRCm39) V254A probably benign Het
Cep104 T A 4: 154,072,883 (GRCm39) D380E probably damaging Het
Cers5 C T 15: 99,639,518 (GRCm39) R123Q probably benign Het
Ces2h A G 8: 105,741,236 (GRCm39) E76G probably damaging Het
Cfap77 T A 2: 28,874,400 (GRCm39) E143D probably benign Het
Chmp7 C A 14: 69,969,745 (GRCm39) R65L probably damaging Het
Cldnd2 T A 7: 43,091,613 (GRCm39) C65S possibly damaging Het
Clec2g C A 6: 128,958,842 (GRCm39) Y142* probably null Het
Coch A T 12: 51,651,802 (GRCm39) E549V probably benign Het
Cog7 T C 7: 121,563,467 (GRCm39) D215G probably benign Het
Col4a2 T C 8: 11,464,779 (GRCm39) V348A probably benign Het
Col4a2 A G 8: 11,496,197 (GRCm39) H1606R probably benign Het
Cpd T C 11: 76,702,620 (GRCm39) N583D probably damaging Het
Cyp2d11 T A 15: 82,273,428 (GRCm39) Y481F probably benign Het
D130043K22Rik T C 13: 25,083,648 (GRCm39) S1038P probably damaging Het
Deptor C A 15: 55,044,406 (GRCm39) H191N probably benign Het
Dgkz A T 2: 91,768,684 (GRCm39) I699N probably damaging Het
Dnah12 C T 14: 26,503,741 (GRCm39) T1653I probably damaging Het
Dnah7c T A 1: 46,809,333 (GRCm39) N3550K probably damaging Het
Dnah8 A G 17: 30,994,035 (GRCm39) K3384R probably null Het
Dnajc11 A G 4: 152,055,424 (GRCm39) probably benign Het
Dnajc13 CT C 9: 104,064,004 (GRCm39) probably benign Het
Dnhd1 C A 7: 105,323,056 (GRCm39) N521K probably benign Het
Drg2 T C 11: 60,352,222 (GRCm39) probably null Het
Dync1h1 C T 12: 110,615,941 (GRCm39) Q3030* probably null Het
Efhb G A 17: 53,733,272 (GRCm39) T533I probably damaging Het
Eif2d T C 1: 131,092,464 (GRCm39) V374A probably damaging Het
Etfb T C 7: 43,093,624 (GRCm39) V17A probably damaging Het
F5 C T 1: 164,009,226 (GRCm39) T332M probably damaging Het
Fcho1 T C 8: 72,169,439 (GRCm39) T156A probably benign Het
Fn1 A T 1: 71,641,671 (GRCm39) probably null Het
Fnip2 A T 3: 79,388,959 (GRCm39) S561T probably damaging Het
Frs2 T A 10: 116,909,998 (GRCm39) T455S probably benign Het
Fry G A 5: 150,309,472 (GRCm39) E639K Het
Fto T A 8: 92,136,342 (GRCm39) D205E probably damaging Het
Galnt2l A G 8: 122,997,013 (GRCm39) probably benign Het
Galntl6 G A 8: 58,880,847 (GRCm39) P147L probably damaging Het
Gigyf1 T A 5: 137,523,032 (GRCm39) D844E probably benign Het
Gle1 T C 2: 29,830,244 (GRCm39) S267P probably damaging Het
Glg1 G A 8: 111,914,387 (GRCm39) R466W probably damaging Het
Gm10277 T C 11: 77,676,923 (GRCm39) probably benign Het
Gm6871 T C 7: 41,196,173 (GRCm39) I39V probably benign Het
Gm9970 A G 5: 31,398,410 (GRCm39) probably benign Het
Gpr35 T G 1: 92,911,107 (GRCm39) I57S probably damaging Het
Gprin1 C T 13: 54,887,770 (GRCm39) G168E possibly damaging Het
Gtdc1 A G 2: 44,679,067 (GRCm39) probably benign Het
Gtf3c2 G T 5: 31,317,401 (GRCm39) P586T probably damaging Het
Gucy1a2 A T 9: 3,759,424 (GRCm39) H410L probably benign Het
Gucy2c A G 6: 136,744,150 (GRCm39) S150P probably damaging Het
Ifi214 T C 1: 173,354,157 (GRCm39) Q171R probably benign Het
Ifit1bl1 T C 19: 34,571,721 (GRCm39) I245M probably benign Het
Igkv4-50 T C 6: 69,677,984 (GRCm39) K40R probably benign Het
Igkv8-18 T A 6: 70,333,280 (GRCm39) I74N probably damaging Het
Il2ra T A 2: 11,681,731 (GRCm39) M112K probably benign Het
Itpr2 A G 6: 146,274,671 (GRCm39) F837S probably damaging Het
Kbtbd7 T C 14: 79,666,240 (GRCm39) *691Q probably null Het
Kcnn2 T A 18: 45,693,416 (GRCm39) S331T possibly damaging Het
Khnyn T A 14: 56,123,946 (GRCm39) probably null Het
Kif26a G A 12: 112,142,007 (GRCm39) A754T probably benign Het
Klra3 T A 6: 130,304,095 (GRCm39) Y199F possibly damaging Het
Lhx2 A G 2: 38,250,003 (GRCm39) K274R probably damaging Het
Lrp2 T C 2: 69,363,899 (GRCm39) I313V probably benign Het
Lrrfip1 A T 1: 91,043,369 (GRCm39) E591D probably benign Het
Lrrk2 G A 15: 91,649,950 (GRCm39) E1696K probably damaging Het
Lrrk2 A C 15: 91,573,052 (GRCm39) E200A probably damaging Het
Mast4 A T 13: 102,909,080 (GRCm39) M465K probably damaging Het
Moxd2 T G 6: 40,855,793 (GRCm39) I599L probably benign Het
Mug2 T C 6: 122,048,831 (GRCm39) S866P probably damaging Het
Ncam2 A G 16: 81,231,772 (GRCm39) T79A possibly damaging Het
Ncoa6 C A 2: 155,263,221 (GRCm39) Q404H probably damaging Het
Neb A G 2: 52,169,091 (GRCm39) Y1815H probably damaging Het
Nell1 A G 7: 50,505,965 (GRCm39) D724G probably damaging Het
Nkx3-2 A G 5: 41,919,487 (GRCm39) V167A probably benign Het
Nsun3 C A 16: 62,555,482 (GRCm39) C348F possibly damaging Het
Obox6 A T 7: 15,568,697 (GRCm39) S60T possibly damaging Het
Oog2 T A 4: 143,920,511 (GRCm39) probably benign Het
Or10g9b A T 9: 39,917,564 (GRCm39) I227N probably damaging Het
Or11g2 T A 14: 50,856,026 (GRCm39) C116S probably benign Het
Or1ad6 G A 11: 50,860,093 (GRCm39) V83M possibly damaging Het
Or1e16 T C 11: 73,286,521 (GRCm39) D109G probably benign Het
Or2i1 T C 17: 37,507,915 (GRCm39) T315A probably damaging Het
Or2n1e T A 17: 38,586,438 (GRCm39) Y259N probably damaging Het
Or9s18 T C 13: 65,300,467 (GRCm39) V143A possibly damaging Het
Pabpc1 A T 15: 36,599,528 (GRCm39) V389E probably benign Het
Pank4 A T 4: 155,055,847 (GRCm39) M291L probably benign Het
Pcf11 T C 7: 92,308,041 (GRCm39) D709G probably benign Het
Pcgf1 T A 6: 83,056,938 (GRCm39) probably benign Het
Pcnx1 A G 12: 82,042,525 (GRCm39) I2256V probably benign Het
Pex6 A G 17: 47,033,214 (GRCm39) D579G probably benign Het
Pex6 A G 17: 47,035,633 (GRCm39) probably null Het
Piezo2 C T 18: 63,163,472 (GRCm39) A2149T probably damaging Het
Pik3c2g A G 6: 139,881,711 (GRCm39) E781G probably benign Het
Pik3r4 G A 9: 105,555,375 (GRCm39) V1111I possibly damaging Het
Pkd1l2 T A 8: 117,722,581 (GRCm39) probably null Het
Plekhg1 T A 10: 3,907,506 (GRCm39) S808T probably benign Het
Pnkp T A 7: 44,509,878 (GRCm39) probably benign Het
Polr3c A T 3: 96,630,977 (GRCm39) F148I probably damaging Het
Ppard A T 17: 28,505,417 (GRCm39) T35S probably benign Het
Ptov1 T C 7: 44,516,533 (GRCm39) D134G probably benign Het
Ptprz1 T A 6: 23,002,609 (GRCm39) S1566R probably benign Het
Pum1 T C 4: 130,445,504 (GRCm39) S158P probably benign Het
Qki T C 17: 10,435,217 (GRCm39) H269R probably damaging Het
Qrsl1 T C 10: 43,752,659 (GRCm39) Y388C probably damaging Het
Rapgef1 T G 2: 29,579,172 (GRCm39) I182S probably damaging Het
Ret T C 6: 118,140,154 (GRCm39) S1013G possibly damaging Het
Rimbp3 A G 16: 17,028,465 (GRCm39) R630G possibly damaging Het
Rnmt A T 18: 68,451,031 (GRCm39) probably benign Het
Ryr2 A T 13: 11,592,795 (GRCm39) M4653K possibly damaging Het
Sacm1l G A 9: 123,419,895 (GRCm39) V553I probably benign Het
Sec31b A T 19: 44,521,116 (GRCm39) S110T probably damaging Het
Serpina3k G A 12: 104,307,119 (GRCm39) G117D probably damaging Het
Sesn2 T C 4: 132,221,902 (GRCm39) Y410C probably damaging Het
Slc24a1 G A 9: 64,856,836 (GRCm39) R24C probably benign Het
Slc35g2 A C 9: 100,434,555 (GRCm39) V372G probably benign Het
Slc7a7 T C 14: 54,646,190 (GRCm39) Y91C probably damaging Het
Slc7a9 T A 7: 35,152,988 (GRCm39) Y135* probably null Het
Slco1a7 A T 6: 141,668,905 (GRCm39) M509K probably benign Het
Slco4a1 A G 2: 180,115,408 (GRCm39) N662D probably damaging Het
Slfn4 T A 11: 83,080,108 (GRCm39) probably benign Het
Slmap T C 14: 26,189,690 (GRCm39) N156S probably damaging Het
Smim29 A G 17: 27,784,244 (GRCm39) probably benign Het
Snx18 A G 13: 113,754,310 (GRCm39) S208P probably benign Het
Sorbs1 T A 19: 40,303,133 (GRCm39) R485S probably benign Het
Spib A G 7: 44,178,309 (GRCm39) S154P probably damaging Het
Spty2d1 T C 7: 46,645,858 (GRCm39) D595G probably damaging Het
St7 T A 6: 17,906,515 (GRCm39) probably null Het
Susd1 T C 4: 59,428,029 (GRCm39) T52A possibly damaging Het
Svs5 T A 2: 164,079,043 (GRCm39) D288V possibly damaging Het
Syt7 T A 19: 10,420,288 (GRCm39) I355N probably damaging Het
Tarm1 G A 7: 3,545,416 (GRCm39) Q145* probably null Het
Teddm2 T A 1: 153,726,487 (GRCm39) E76V probably damaging Het
Thsd7b T C 1: 129,540,923 (GRCm39) S343P probably damaging Het
Tigd2 T A 6: 59,188,400 (GRCm39) H422Q probably benign Het
Tle1 T C 4: 72,043,256 (GRCm39) N538D possibly damaging Het
Tmc2 A G 2: 130,103,317 (GRCm39) probably null Het
Tmtc1 A C 6: 148,186,478 (GRCm39) probably null Het
Tns3 C T 11: 8,400,986 (GRCm39) R1104H probably benign Het
Trim6 T C 7: 103,881,855 (GRCm39) Y369H probably damaging Het
Triobp G A 15: 78,851,313 (GRCm39) R489K probably damaging Het
Trpv4 T C 5: 114,760,814 (GRCm39) D732G possibly damaging Het
Trrap G A 5: 144,753,380 (GRCm39) V1883I probably damaging Het
Tsc2 C A 17: 24,822,249 (GRCm39) V1141F possibly damaging Het
Ttn A G 2: 76,730,171 (GRCm39) probably benign Het
Ttn A T 2: 76,773,355 (GRCm39) M2395K unknown Het
Tyrp1 A T 4: 80,763,172 (GRCm39) D353V possibly damaging Het
Ubd A C 17: 37,506,593 (GRCm39) T160P probably benign Het
Ugt2b36 G T 5: 87,229,397 (GRCm39) Y156* probably null Het
Ulk4 G A 9: 121,092,704 (GRCm39) R178* probably null Het
Unc13d A G 11: 115,964,408 (GRCm39) V312A possibly damaging Het
Urb2 G T 8: 124,755,636 (GRCm39) A448S probably damaging Het
Urod G A 4: 116,848,870 (GRCm39) A92V possibly damaging Het
Vmn1r33 T A 6: 66,588,803 (GRCm39) R250S probably benign Het
Vmn1r87 A T 7: 12,866,254 (GRCm39) M11K possibly damaging Het
Vmn2r77 C T 7: 86,450,195 (GRCm39) T147I probably benign Het
Vstm4 A G 14: 32,639,859 (GRCm39) K96E possibly damaging Het
Vxn T C 1: 9,677,201 (GRCm39) S24P probably benign Het
Washc4 A T 10: 83,410,343 (GRCm39) M644L probably benign Het
Wwp1 T C 4: 19,661,990 (GRCm39) D172G probably benign Het
Zbtb38 A T 9: 96,569,737 (GRCm39) V449E probably damaging Het
Zfhx4 T C 3: 5,279,867 (GRCm39) probably benign Het
Zfp229 C T 17: 21,964,267 (GRCm39) H166Y possibly damaging Het
Zfp512b A G 2: 181,230,532 (GRCm39) S453P probably benign Het
Zp2 C A 7: 119,737,343 (GRCm39) V282L probably damaging Het
Other mutations in Adam1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01451:Adam1a APN 5 121,657,439 (GRCm39) missense probably benign 0.09
IGL01467:Adam1a APN 5 121,657,791 (GRCm39) missense probably damaging 1.00
IGL02158:Adam1a APN 5 121,657,034 (GRCm39) nonsense probably null
R1468:Adam1a UTSW 5 121,657,839 (GRCm39) splice site probably null
R1468:Adam1a UTSW 5 121,657,839 (GRCm39) splice site probably null
R1593:Adam1a UTSW 5 121,657,706 (GRCm39) missense probably benign 0.02
R1848:Adam1a UTSW 5 121,657,683 (GRCm39) missense probably damaging 1.00
R1925:Adam1a UTSW 5 121,657,513 (GRCm39) nonsense probably null
R2176:Adam1a UTSW 5 121,657,649 (GRCm39) missense probably benign 0.01
R2232:Adam1a UTSW 5 121,657,795 (GRCm39) missense possibly damaging 0.93
R3692:Adam1a UTSW 5 121,657,385 (GRCm39) missense probably damaging 1.00
R4733:Adam1a UTSW 5 121,657,497 (GRCm39) missense probably benign 0.34
R4835:Adam1a UTSW 5 121,657,752 (GRCm39) missense probably damaging 1.00
R5199:Adam1a UTSW 5 121,659,215 (GRCm39) missense probably benign 0.23
R6026:Adam1a UTSW 5 121,657,425 (GRCm39) missense probably damaging 1.00
R6936:Adam1a UTSW 5 121,657,425 (GRCm39) missense probably damaging 1.00
R7016:Adam1a UTSW 5 121,659,101 (GRCm39) missense probably benign 0.01
R7124:Adam1a UTSW 5 121,657,397 (GRCm39) missense probably benign 0.15
R7294:Adam1a UTSW 5 121,658,068 (GRCm39) nonsense probably null
R7501:Adam1a UTSW 5 121,657,011 (GRCm39) missense possibly damaging 0.85
R7641:Adam1a UTSW 5 121,657,370 (GRCm39) missense probably benign 0.00
R8548:Adam1a UTSW 5 121,658,165 (GRCm39) missense probably damaging 1.00
R8917:Adam1a UTSW 5 121,657,145 (GRCm39) missense probably benign 0.43
R9151:Adam1a UTSW 5 121,657,411 (GRCm39) missense probably damaging 0.97
R9400:Adam1a UTSW 5 121,657,893 (GRCm39) missense probably benign 0.07
Predicted Primers PCR Primer
(F):5'- ACTCCATGCAGACTTTGTTTG -3'
(R):5'- AACAGCTACATGCAGGATGGC -3'

Sequencing Primer
(F):5'- CAGACTTTGTTTGGGGCACAGAAG -3'
(R):5'- GTTGGTGTAAGAACCCTGATAAAC -3'
Posted On 2015-11-11