Incidental Mutation 'R3020:Adam1b'
ID 257725
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
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3020 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 121638161-121641498 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 121639446 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Leucine at position 533 (S533L)
Ref Sequence ENSEMBL: ENSMUSP00000078343 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079368] [ENSMUST00000111795] [ENSMUST00000156080]
AlphaFold Q8R534
Predicted Effect possibly damaging
Transcript: ENSMUST00000079368
AA Change: S533L

PolyPhen 2 Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000078343
Gene: ENSMUSG00000062438
AA Change: S533L

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: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.2%
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: 9 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bahd1 C T 2: 118,746,887 (GRCm39) P169S probably damaging Het
Chrnb3 G A 8: 27,886,812 (GRCm39) R447H probably benign Het
Ephb6 T C 6: 41,591,455 (GRCm39) F204S probably damaging Het
Ifnlr1 AGAGGAGGAGGAGGAGGAGGAGGA AGAGGAGGAGGAGGAGGAGGA 4: 135,433,041 (GRCm39) probably benign Het
Polr1b A G 2: 128,957,601 (GRCm39) D552G probably benign Het
Slc15a4 A G 5: 127,681,600 (GRCm39) probably null Het
Tex15 T C 8: 34,066,698 (GRCm39) F2043L probably damaging Het
Vamp8 A G 6: 72,365,330 (GRCm39) I26T possibly damaging Het
Vmn2r114 ATTT ATT 17: 23,509,906 (GRCm39) probably null 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
R2570:Adam1b UTSW 5 121,639,811 (GRCm39) missense probably damaging 1.00
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'- GGAGGGAATCTCTCATGTCAAAC -3'
(R):5'- CCTGGAAGAATACTGCAATGGG -3'

Sequencing Primer
(F):5'- GGGAATCTCTCATGTCAAACACAGC -3'
(R):5'- GAATACTGCAATGGGACCTCTGC -3'
Posted On 2015-01-11