Incidental Mutation 'IGL02438:Adam1b'
ID293356
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adam1b
Ensembl Gene ENSMUSG00000062438
Gene Namea disintegrin and metallopeptidase domain 1b
SynonymsPH-30 alpha, Ftna, fertilin alpha
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02438
Quality Score
Status
Chromosome5
Chromosomal Location121500098-121503435 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 121501038 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 648 (N648S)
Ref Sequence ENSEMBL: ENSMUSP00000078343 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079368] [ENSMUST00000111795] [ENSMUST00000156080]
Predicted Effect probably damaging
Transcript: ENSMUST00000079368
AA Change: N648S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000078343
Gene: ENSMUSG00000062438
AA Change: N648S

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
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: 15 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Dna2 A G 10: 62,957,062 I285M possibly damaging Het
Fbxw8 A G 5: 118,095,693 F291S probably benign Het
Gm6619 T C 6: 131,490,435 S88P possibly damaging Het
Ist1 A G 8: 109,675,370 probably benign Het
Muc13 T A 16: 33,807,980 S367T possibly damaging Het
Necab3 T A 2: 154,546,044 D284V probably damaging Het
Nit2 G A 16: 57,161,148 Q83* probably null Het
Ppcs A G 4: 119,421,692 probably benign Het
Slc26a2 G T 18: 61,202,217 H55N possibly damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Trmt2b C A X: 134,243,083 V219L probably benign Het
Ugt3a1 A G 15: 9,291,976 D27G possibly damaging Het
Vmn2r74 A G 7: 85,952,616 F605L probably damaging Het
Vmn2r79 T C 7: 87,002,536 L381P probably damaging Het
Other mutations in Adam1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00566:Adam1b APN 5 121500993 missense probably damaging 0.96
IGL01696:Adam1b APN 5 121500793 missense possibly damaging 0.73
IGL01906:Adam1b APN 5 121501475 missense probably benign 0.00
IGL02003:Adam1b APN 5 121501291 missense probably damaging 1.00
IGL02479:Adam1b APN 5 121501398 missense probably damaging 1.00
IGL03258:Adam1b APN 5 121501384 missense possibly damaging 0.94
PIT4519001:Adam1b UTSW 5 121501947 missense probably damaging 1.00
R1695:Adam1b UTSW 5 121500907 missense probably benign 0.02
R1816:Adam1b UTSW 5 121501725 missense probably damaging 0.99
R1831:Adam1b UTSW 5 121502937 missense possibly damaging 0.67
R1833:Adam1b UTSW 5 121502937 missense possibly damaging 0.67
R1839:Adam1b UTSW 5 121501041 missense probably damaging 1.00
R2031:Adam1b UTSW 5 121501055 missense possibly damaging 0.73
R2110:Adam1b UTSW 5 121500714 intron probably benign
R2112:Adam1b UTSW 5 121500714 intron probably benign
R2570:Adam1b UTSW 5 121501748 missense probably damaging 1.00
R3020:Adam1b UTSW 5 121501383 missense possibly damaging 0.67
R4573:Adam1b UTSW 5 121500793 missense probably benign 0.18
R4574:Adam1b UTSW 5 121500793 missense probably benign 0.18
R5023:Adam1b UTSW 5 121501159 missense probably damaging 1.00
R5364:Adam1b UTSW 5 121500883 missense possibly damaging 0.75
R6553:Adam1b UTSW 5 121501187 missense probably benign 0.05
R6585:Adam1b UTSW 5 121501187 missense probably benign 0.05
R6600:Adam1b UTSW 5 121501467 missense probably damaging 1.00
R7285:Adam1b UTSW 5 121500993 missense probably damaging 0.96
Posted On2015-04-16