Incidental Mutation 'R2570:Adam1b'
ID 252353
Institutional Source Beutler Lab
Gene Symbol Adam1b
Ensembl Gene ENSMUSG00000062438
Gene Name a disintegrin and metallopeptidase domain 1b
Synonyms PH-30 alpha, fertilin alpha, Ftna
MMRRC Submission 040428-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2570 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 121638161-121641498 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 121639811 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 411 (N411K)
Ref Sequence ENSEMBL: ENSMUSP00000078343 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079368] [ENSMUST00000111795] [ENSMUST00000156080]
AlphaFold Q8R534
Predicted Effect probably damaging
Transcript: ENSMUST00000079368
AA Change: N411K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000078343
Gene: ENSMUSG00000062438
AA Change: N411K

DomainStartEndE-ValueType
transmembrane domain 13 32 N/A INTRINSIC
Pfam:Pep_M12B_propep 38 159 1.6e-18 PFAM
Pfam:Reprolysin_5 201 378 2.9e-15 PFAM
Pfam:Reprolysin_4 202 386 6.8e-9 PFAM
Pfam:Reprolysin 203 397 2.4e-70 PFAM
Pfam:Reprolysin_3 223 349 3.9e-14 PFAM
Pfam:Reprolysin_2 223 387 5.8e-9 PFAM
DISIN 415 488 8.08e-29 SMART
ACR 489 628 3.41e-47 SMART
EGF 634 665 2.34e1 SMART
transmembrane domain 705 727 N/A INTRINSIC
coiled coil region 763 801 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: 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 noncoding transcript
Transcript: ENSMUST00000196484
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 94.9%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele are viable, healthy and fertile with no significant defects in sperm function. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad10 T A 5: 121,768,267 (GRCm39) N763I probably damaging Het
Actr8 T C 14: 29,709,239 (GRCm39) V281A probably damaging Het
Adamdec1 T A 14: 68,816,657 (GRCm39) Q77L probably damaging Het
Adgre4 T A 17: 56,085,878 (GRCm39) F59Y possibly damaging Het
Akr1c18 T C 13: 4,192,163 (GRCm39) N178S probably benign Het
Aldh1a7 T A 19: 20,677,320 (GRCm39) T434S probably benign Het
Bcl10 T A 3: 145,638,785 (GRCm39) N142K probably benign Het
C1qc T C 4: 136,617,402 (GRCm39) I231M probably benign Het
Cacna1b A T 2: 24,496,649 (GRCm39) L2307* probably null Het
Cadm2 G A 16: 66,612,271 (GRCm39) S106L probably damaging Het
Cdc42bpa G A 1: 179,977,742 (GRCm39) R1518Q possibly damaging Het
Cdk12 T G 11: 98,094,618 (GRCm39) M142R possibly damaging Het
Csmd3 CCTTTGCGCTT CCTT 15: 47,604,632 (GRCm39) probably null Het
Cspg4b C T 13: 113,455,121 (GRCm39) T389I probably benign Het
Cyp2c50 C G 19: 40,078,764 (GRCm39) H90D probably benign Het
Dach1 A G 14: 98,138,847 (GRCm39) M480T probably benign Het
Dennd1a A T 2: 37,734,795 (GRCm39) F57L probably damaging Het
Dhcr24 T C 4: 106,443,029 (GRCm39) F355L probably benign Het
Drc1 A G 5: 30,512,609 (GRCm39) R339G probably damaging Het
Efcab3 T A 11: 104,624,490 (GRCm39) S840R probably damaging Het
Efna5 A T 17: 63,188,023 (GRCm39) Y35N probably benign Het
Ehmt1 A G 2: 24,705,753 (GRCm39) V811A probably damaging Het
Fam135a A T 1: 24,061,045 (GRCm39) V1114E probably damaging Het
Frmd8 C A 19: 5,924,740 (GRCm39) R28L probably damaging Het
Gm9936 A G 5: 114,995,605 (GRCm39) probably benign Het
Hgsnat C T 8: 26,435,280 (GRCm39) W618* probably null Het
Itgal T C 7: 126,913,268 (GRCm39) F622L probably damaging Het
Kalrn C T 16: 34,130,865 (GRCm39) E451K probably damaging Het
Kat2a A T 11: 100,601,648 (GRCm39) F256I probably damaging Het
Lama4 A T 10: 38,951,354 (GRCm39) D1033V possibly damaging Het
Lama4 T A 10: 38,982,043 (GRCm39) D1757E probably damaging Het
Laptm5 T C 4: 130,659,358 (GRCm39) Y212H probably damaging Het
Lsm10 T C 4: 125,991,716 (GRCm39) L24P probably damaging Het
Mtcl3 A T 10: 29,022,761 (GRCm39) Q36L possibly damaging Het
Mtfp1 T C 11: 4,044,504 (GRCm39) E27G probably damaging Het
Ncaph2 C A 15: 89,254,678 (GRCm39) D399E probably benign Het
Ncor2 T C 5: 125,105,864 (GRCm39) probably null Het
Nek9 A C 12: 85,379,320 (GRCm39) Y195* probably null Het
Npas1 T C 7: 16,208,628 (GRCm39) D83G probably damaging Het
Nrsn2 A T 2: 152,211,741 (GRCm39) F97I possibly damaging Het
Oas1c T C 5: 120,943,503 (GRCm39) N10S probably benign Het
Or2ag12 A G 7: 106,276,874 (GRCm39) I273T probably benign Het
Or55b10 T C 7: 102,143,106 (GRCm39) N292S probably damaging Het
Or7e165 T A 9: 19,695,305 (GRCm39) L292Q probably damaging Het
Pcdha4 A T 18: 37,086,665 (GRCm39) T283S probably benign Het
Pdk1 A C 2: 71,703,904 (GRCm39) D64A possibly damaging Het
Pramel17 T C 4: 101,694,443 (GRCm39) T147A probably benign Het
Ptpdc1 C T 13: 48,739,539 (GRCm39) A631T probably benign Het
Rasal2 G T 1: 156,988,870 (GRCm39) A660E possibly damaging Het
Sgpp2 T A 1: 78,336,787 (GRCm39) V55E possibly damaging Het
Shank2 A T 7: 143,622,507 (GRCm39) I214F probably damaging Het
Slfn14 T C 11: 83,174,433 (GRCm39) N186S probably benign Het
Sptbn5 A T 2: 119,879,121 (GRCm39) noncoding transcript Het
Stradb C T 1: 59,027,743 (GRCm39) T91I probably damaging Het
Sulf2 T C 2: 165,927,721 (GRCm39) I359V probably benign Het
Tbl3 A T 17: 24,922,290 (GRCm39) M405K possibly damaging Het
Tecta G T 9: 42,243,848 (GRCm39) D2001E probably damaging Het
Tectb C G 19: 55,169,431 (GRCm39) probably benign Het
Tgfbi T A 13: 56,786,521 (GRCm39) probably null Het
Tmem132a A T 19: 10,837,106 (GRCm39) L612Q probably null Het
Tnf T C 17: 35,419,476 (GRCm39) N102S probably damaging Het
Trib3 A T 2: 152,185,156 (GRCm39) V31D probably benign Het
Ube2q2 T A 9: 55,099,140 (GRCm39) F248L probably benign Het
Usf3 T C 16: 44,036,744 (GRCm39) V408A probably benign Het
Vmn1r159 T C 7: 22,542,307 (GRCm39) M242V probably benign Het
Vmn2r105 A T 17: 20,447,585 (GRCm39) L413H probably damaging Het
Zbtb2 T G 10: 4,318,673 (GRCm39) N451T probably damaging Het
Zfp593 C A 4: 133,972,869 (GRCm39) probably benign Het
Other mutations in Adam1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00566:Adam1b APN 5 121,639,056 (GRCm39) missense probably damaging 0.96
IGL01696:Adam1b APN 5 121,638,856 (GRCm39) missense possibly damaging 0.73
IGL01906:Adam1b APN 5 121,639,538 (GRCm39) missense probably benign 0.00
IGL02003:Adam1b APN 5 121,639,354 (GRCm39) missense probably damaging 1.00
IGL02438:Adam1b APN 5 121,639,101 (GRCm39) missense probably damaging 1.00
IGL02479:Adam1b APN 5 121,639,461 (GRCm39) missense probably damaging 1.00
IGL03258:Adam1b APN 5 121,639,447 (GRCm39) missense possibly damaging 0.94
PIT4519001:Adam1b UTSW 5 121,640,010 (GRCm39) missense probably damaging 1.00
R1695:Adam1b UTSW 5 121,638,970 (GRCm39) missense probably benign 0.02
R1816:Adam1b UTSW 5 121,639,788 (GRCm39) missense probably damaging 0.99
R1831:Adam1b UTSW 5 121,641,000 (GRCm39) missense possibly damaging 0.67
R1833:Adam1b UTSW 5 121,641,000 (GRCm39) missense possibly damaging 0.67
R1839:Adam1b UTSW 5 121,639,104 (GRCm39) missense probably damaging 1.00
R2031:Adam1b UTSW 5 121,639,118 (GRCm39) missense possibly damaging 0.73
R2110:Adam1b UTSW 5 121,638,777 (GRCm39) intron probably benign
R2112:Adam1b UTSW 5 121,638,777 (GRCm39) intron probably benign
R3020:Adam1b UTSW 5 121,639,446 (GRCm39) missense possibly damaging 0.67
R4573:Adam1b UTSW 5 121,638,856 (GRCm39) missense probably benign 0.18
R4574:Adam1b UTSW 5 121,638,856 (GRCm39) missense probably benign 0.18
R5023:Adam1b UTSW 5 121,639,222 (GRCm39) missense probably damaging 1.00
R5364:Adam1b UTSW 5 121,638,946 (GRCm39) missense possibly damaging 0.75
R6553:Adam1b UTSW 5 121,639,250 (GRCm39) missense probably benign 0.05
R6585:Adam1b UTSW 5 121,639,250 (GRCm39) missense probably benign 0.05
R6600:Adam1b UTSW 5 121,639,530 (GRCm39) missense probably damaging 1.00
R7285:Adam1b UTSW 5 121,639,056 (GRCm39) missense probably damaging 0.96
R7549:Adam1b UTSW 5 121,639,981 (GRCm39) missense probably damaging 1.00
R7843:Adam1b UTSW 5 121,639,500 (GRCm39) missense probably damaging 0.99
R8024:Adam1b UTSW 5 121,638,986 (GRCm39) missense probably benign 0.39
R8306:Adam1b UTSW 5 121,641,212 (GRCm39) intron probably benign
R8409:Adam1b UTSW 5 121,639,540 (GRCm39) missense probably benign 0.00
R8552:Adam1b UTSW 5 121,639,504 (GRCm39) missense probably benign 0.02
R9027:Adam1b UTSW 5 121,640,788 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TCTTCCAGGTCACATGGTCC -3'
(R):5'- GAAGATGTCCTCCTGTTCGC -3'

Sequencing Primer
(F):5'- TCACATGGTCCGTCAGCAG -3'
(R):5'- TGGGTATCCAGCACGACCAC -3'
Posted On 2014-12-04