Incidental Mutation 'IGL01467:Adam1a'
ID88140
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: 0.064) question?
Stock #IGL01467
Quality Score
Status
Chromosome5
Chromosomal Location121518576-121545482 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 121519728 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Arginine at position 501 (C501R)
Ref Sequence ENSEMBL: ENSMUSP00000098320 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100757] [ENSMUST00000111795] [ENSMUST00000125946] [ENSMUST00000156080] [ENSMUST00000200170]
Predicted Effect probably damaging
Transcript: ENSMUST00000100757
AA Change: C501R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000098320
Gene: ENSMUSG00000072647
AA Change: C501R

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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atxn1 C T 13: 45,567,193 V409I probably damaging Het
Cdkn2aip T C 8: 47,711,212 R489G probably damaging Het
Cgn A G 3: 94,779,588 S135P probably damaging Het
Cpne3 C A 4: 19,553,737 C98F probably benign Het
Cyp2c23 T C 19: 44,015,073 N221S possibly damaging Het
Dnah8 A G 17: 30,779,916 N3525S probably damaging Het
Efr3b T C 12: 3,969,597 E560G probably damaging Het
Eif2b5 C A 16: 20,508,964 C154* probably null Het
Eps8l2 A G 7: 141,361,601 E595G probably damaging Het
Gm8394 A G 10: 85,314,122 noncoding transcript Het
Gm9839 A T 1: 32,519,951 I350N probably damaging Het
Hdlbp A T 1: 93,417,698 probably benign Het
Il18rap A T 1: 40,548,639 I466F probably damaging Het
Itpr1 T A 6: 108,488,496 I2123N probably damaging Het
Jakmip2 A G 18: 43,582,287 I58T probably benign Het
Kdm2a A G 19: 4,324,407 S899P probably damaging Het
Mmp15 T A 8: 95,366,331 F113I probably benign Het
Neb T C 2: 52,159,487 H6448R possibly damaging Het
Olfr165 T C 16: 19,407,789 T77A probably benign Het
Olfr340 C T 2: 36,452,644 R20* probably null Het
Pdgfc A G 3: 81,209,091 T251A probably damaging Het
Pdgfra T C 5: 75,185,631 probably null Het
Pdpk1 A G 17: 24,088,170 S269P probably damaging Het
Pip4k2c A T 10: 127,199,629 F347L probably benign Het
Platr26 T C 2: 71,723,312 noncoding transcript Het
Pnisr C T 4: 21,874,650 probably benign Het
Rab3gap1 T A 1: 127,930,384 probably null Het
Scn10a C T 9: 119,658,412 V619I probably benign Het
Slc38a11 T A 2: 65,316,856 T426S probably benign Het
Son T C 16: 91,657,277 S971P possibly damaging Het
Stk33 T A 7: 109,329,589 I239L probably damaging Het
Tiparp G T 3: 65,552,609 G442* probably null Het
Tmem270 G T 5: 134,901,961 probably benign Het
Vmn2r4 A T 3: 64,406,395 N388K probably damaging Het
Zfp750 A T 11: 121,512,941 C369* probably null Het
Other mutations in Adam1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01451:Adam1a APN 5 121519376 missense probably benign 0.09
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
R7501:Adam1a UTSW 5 121518948 missense possibly damaging 0.85
R7641:Adam1a UTSW 5 121519307 missense probably benign 0.00
Posted On2013-11-18