Incidental Mutation 'IGL00566:Adam1b'
ID8568
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 #IGL00566
Quality Score
Status
Chromosome5
Chromosomal Location121500098-121503435 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 121500993 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 663 (D663G)
Ref Sequence ENSEMBL: ENSMUSP00000078343 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079368] [ENSMUST00000111795] [ENSMUST00000156080]
Predicted Effect probably damaging
Transcript: ENSMUST00000079368
AA Change: D663G

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000078343
Gene: ENSMUSG00000062438
AA Change: D663G

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: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik A G 7: 41,625,391 T173A possibly damaging Het
Acaa2 G A 18: 74,793,378 G135E probably damaging Het
Actr2 C A 11: 20,072,487 R328L possibly damaging Het
Adcy10 A T 1: 165,551,914 E915V probably benign Het
Antxr2 G A 5: 97,886,607 probably benign Het
Ckap5 T A 2: 91,568,627 probably benign Het
Clec4g T C 8: 3,716,410 probably benign Het
Cramp1l A G 17: 24,983,951 V368A probably benign Het
Diaph3 C T 14: 87,002,871 R248K probably benign Het
Fut10 T C 8: 31,235,684 Y156H probably damaging Het
Ice2 T C 9: 69,416,113 V630A probably benign Het
Ints13 A T 6: 146,565,676 V179D probably damaging Het
Kcnj2 A C 11: 111,071,827 E15A probably damaging Het
Kif1bp G T 10: 62,559,339 S508* probably null Het
Lpcat2b T A 5: 107,433,804 L333Q probably damaging Het
Lrguk A C 6: 34,056,174 L258F probably damaging Het
M6pr A T 6: 122,313,378 K100M probably damaging Het
Nop14 T C 5: 34,641,313 probably benign Het
Pcdh20 A G 14: 88,467,881 V661A possibly damaging Het
Vcan A T 13: 89,688,979 H2815Q probably benign Het
Other mutations in Adam1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL02438:Adam1b APN 5 121501038 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 On2012-12-06