Incidental Mutation 'IGL01451:Adam1a'
ID84646
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adam1a
Ensembl Gene ENSMUSG00000072647
Gene Namea disintegrin and metallopeptidase domain 1a
Synonymsfertilin alpha, Ftna, PH-30 alpha
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.073) question?
Stock #IGL01451
Quality Score
Status
Chromosome5
Chromosomal Location121518576-121545482 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 121519376 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 618 (Y618C)
Ref Sequence ENSEMBL: ENSMUSP00000098320 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100757] [ENSMUST00000111795] [ENSMUST00000125946] [ENSMUST00000156080] [ENSMUST00000200170]
Predicted Effect probably benign
Transcript: ENSMUST00000100757
AA Change: Y618C

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000098320
Gene: ENSMUSG00000072647
AA Change: Y618C

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
Coding Region Coverage
Validation Efficiency
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003H04Rik A G 3: 124,579,878 S23P possibly damaging Het
Amigo2 A C 15: 97,245,226 S438R probably benign Het
Atp5k T C 5: 108,434,056 I21V probably benign Het
Dnah2 T C 11: 69,474,191 probably benign Het
Dock2 A G 11: 34,310,390 Y984H probably damaging Het
Dpysl2 T A 14: 66,807,918 I469F possibly damaging Het
Edem3 C T 1: 151,818,628 T886I probably benign Het
Gart T C 16: 91,625,512 T706A probably benign Het
Gfpt2 A T 11: 49,807,690 probably benign Het
Gm11541 T G 11: 94,695,669 D84A unknown Het
Gne T C 4: 44,041,860 probably null Het
Gria4 A T 9: 4,503,652 D321E probably benign Het
Ift122 T G 6: 115,912,604 probably null Het
Lcp2 A T 11: 34,047,345 probably benign Het
Mcm2 C T 6: 88,891,966 probably benign Het
Olfr921 A G 9: 38,775,929 I225V probably benign Het
Ptpru C A 4: 131,769,492 probably benign Het
Rpap2 T C 5: 107,603,626 probably null Het
Slc25a39 T C 11: 102,404,900 T138A probably damaging Het
St6galnac1 A C 11: 116,769,339 S49R probably benign Het
Stat1 T C 1: 52,139,343 L312P probably damaging Het
Tmem198 T C 1: 75,484,370 probably benign Het
Top2a A T 11: 99,011,030 L458Q probably damaging Het
Treml4 T C 17: 48,264,995 probably benign Het
Trpm6 A G 19: 18,809,569 D503G probably damaging Het
Ttn C A 2: 76,945,273 E1854D unknown Het
Ubqln3 A T 7: 104,142,196 M229K possibly damaging Het
Zfyve9 T C 4: 108,682,260 T939A probably damaging Het
Other mutations in Adam1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01467:Adam1a APN 5 121519728 missense probably damaging 1.00
IGL02158:Adam1a APN 5 121518971 nonsense probably null
R1468:Adam1a UTSW 5 121519776 intron probably null
R1468:Adam1a UTSW 5 121519776 intron probably null
R1593:Adam1a UTSW 5 121519643 missense probably benign 0.02
R1848:Adam1a UTSW 5 121519620 missense probably damaging 1.00
R1925:Adam1a UTSW 5 121519450 nonsense probably null
R2176:Adam1a UTSW 5 121519586 missense probably benign 0.01
R2232:Adam1a UTSW 5 121519732 missense possibly damaging 0.93
R3692:Adam1a UTSW 5 121519322 missense probably damaging 1.00
R4732:Adam1a UTSW 5 121519434 missense probably benign 0.34
R4733:Adam1a UTSW 5 121519434 missense probably benign 0.34
R4835:Adam1a UTSW 5 121519689 missense probably damaging 1.00
R5199:Adam1a UTSW 5 121521152 missense probably benign 0.23
R6026:Adam1a UTSW 5 121519362 missense probably damaging 1.00
R6936:Adam1a UTSW 5 121519362 missense probably damaging 1.00
R7016:Adam1a UTSW 5 121521038 missense probably benign 0.01
R7124:Adam1a UTSW 5 121519334 missense probably benign 0.15
R7294:Adam1a UTSW 5 121520005 nonsense probably null
Posted On2013-11-11