Incidental Mutation 'IGL00540:Amph'
ID5952
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Amph
Ensembl Gene ENSMUSG00000021314
Gene Nameamphiphysin
Synonyms
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.515) question?
Stock #IGL00540
Quality Score
Status
Chromosome13
Chromosomal Location18948205-19150921 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 19120606 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Valine at position 398 (G398V)
Ref Sequence ENSEMBL: ENSMUSP00000003345 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003345] [ENSMUST00000200466]
Predicted Effect probably damaging
Transcript: ENSMUST00000003345
AA Change: G398V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000003345
Gene: ENSMUSG00000021314
AA Change: G398V

DomainStartEndE-ValueType
BAR 12 233 8.47e-80 SMART
low complexity region 260 277 N/A INTRINSIC
low complexity region 282 295 N/A INTRINSIC
low complexity region 301 315 N/A INTRINSIC
low complexity region 341 362 N/A INTRINSIC
low complexity region 424 445 N/A INTRINSIC
low complexity region 479 499 N/A INTRINSIC
SH3 616 686 7.82e-10 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197545
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198668
Predicted Effect probably damaging
Transcript: ENSMUST00000200466
AA Change: G398V

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000142766
Gene: ENSMUSG00000021314
AA Change: G398V

DomainStartEndE-ValueType
BAR 12 233 2.3e-82 SMART
low complexity region 260 277 N/A INTRINSIC
low complexity region 282 295 N/A INTRINSIC
low complexity region 301 315 N/A INTRINSIC
low complexity region 341 362 N/A INTRINSIC
low complexity region 428 449 N/A INTRINSIC
low complexity region 483 503 N/A INTRINSIC
SH3 620 690 4.9e-12 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222698
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein associated with the cytoplasmic surface of synaptic vesicles. A subset of patients with stiff-man syndrome who were also affected by breast cancer are positive for autoantibodies against this protein. Alternate splicing of this gene results in two transcript variants encoding different isoforms. Additional splice variants have been described, but their full length sequences have not been determined. A pseudogene of this gene is found on chromosome 11.[provided by RefSeq, Nov 2010]
PHENOTYPE: Mice homozygous for a targeted mutation of this gene exhibit learning deficits and synaptic vesicle recycling defects, and die between 2 to 5 months of age from rare irreversible seizures. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931408C20Rik A G 1: 26,684,977 I374T probably benign Het
C2cd3 T G 7: 100,391,128 S301R probably benign Het
Calr G A 8: 84,844,744 P178S possibly damaging Het
Cbll1 G T 12: 31,487,941 P271T probably damaging Het
Ccl7 A T 11: 82,047,062 D89V probably damaging Het
Cd82 T A 2: 93,420,659 I179F probably null Het
Cdh10 A T 15: 18,963,995 D81V probably damaging Het
Cenpo A G 12: 4,216,685 V141A probably benign Het
Dnah11 A G 12: 118,186,922 V367A probably benign Het
Fam161b T C 12: 84,361,751 probably benign Het
Gemin5 G A 11: 58,160,818 P268S probably damaging Het
Gm5965 T A 16: 88,778,340 C134S probably damaging Het
Icam4 C A 9: 21,030,086 R174S possibly damaging Het
Kdm5a T A 6: 120,385,719 probably null Het
Klhl10 A G 11: 100,445,418 K77R probably benign Het
Mrgprb1 A T 7: 48,447,543 V207E probably damaging Het
Myh10 A G 11: 68,790,708 N1067S probably benign Het
Myo1b T C 1: 51,763,954 E856G possibly damaging Het
Nbea T C 3: 55,628,493 Y2890C probably damaging Het
Pcdhb16 T C 18: 37,479,798 S604P probably damaging Het
Pelp1 A T 11: 70,394,812 D743E possibly damaging Het
Pisd T C 5: 32,738,412 I441V probably benign Het
Rab25 A G 3: 88,545,239 S21P probably damaging Het
Sspo G A 6: 48,498,213 probably benign Het
Ssr1 T C 13: 37,983,431 D252G probably damaging Het
Stx1b T C 7: 127,810,698 E19G probably damaging Het
Tbc1d23 T A 16: 57,171,776 E607V probably damaging Het
Tchhl1 A G 3: 93,470,923 I311M probably benign Het
Trpm6 C T 19: 18,783,908 probably benign Het
Other mutations in Amph
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01866:Amph APN 13 19142002 missense probably damaging 1.00
IGL02157:Amph APN 13 19104231 missense possibly damaging 0.60
IGL02300:Amph APN 13 19086604 missense probably damaging 1.00
IGL02435:Amph APN 13 19139163 splice site probably benign
IGL03060:Amph APN 13 19094814 missense probably damaging 0.99
IGL03122:Amph APN 13 19102943 missense probably damaging 0.98
R0037:Amph UTSW 13 19100653 missense possibly damaging 0.90
R0646:Amph UTSW 13 19113116 missense possibly damaging 0.95
R0652:Amph UTSW 13 19086621 splice site probably null
R1005:Amph UTSW 13 19142028 missense probably damaging 0.97
R1006:Amph UTSW 13 19142028 missense probably damaging 0.97
R1199:Amph UTSW 13 19142028 missense probably damaging 0.97
R1200:Amph UTSW 13 19142028 missense probably damaging 0.97
R1201:Amph UTSW 13 19142028 missense probably damaging 0.97
R1333:Amph UTSW 13 19142028 missense probably damaging 0.97
R1334:Amph UTSW 13 19142028 missense probably damaging 0.97
R1335:Amph UTSW 13 19142028 missense probably damaging 0.97
R1337:Amph UTSW 13 19142028 missense probably damaging 0.97
R1338:Amph UTSW 13 19142028 missense probably damaging 0.97
R1384:Amph UTSW 13 19142028 missense probably damaging 0.97
R1397:Amph UTSW 13 19142028 missense probably damaging 0.97
R1501:Amph UTSW 13 19104291 nonsense probably null
R1528:Amph UTSW 13 19142028 missense probably damaging 0.97
R1822:Amph UTSW 13 18948455 missense probably damaging 0.98
R2004:Amph UTSW 13 19142028 missense probably damaging 0.97
R2006:Amph UTSW 13 19142028 missense probably damaging 0.97
R2061:Amph UTSW 13 19125035 nonsense probably null
R2111:Amph UTSW 13 19116266 splice site probably benign
R2329:Amph UTSW 13 19139350 missense probably benign
R2878:Amph UTSW 13 19104267 missense possibly damaging 0.95
R3121:Amph UTSW 13 19113146 nonsense probably null
R3548:Amph UTSW 13 19102959 missense probably damaging 1.00
R4059:Amph UTSW 13 19141998 missense probably damaging 1.00
R4369:Amph UTSW 13 19137700 missense probably benign 0.20
R4492:Amph UTSW 13 19149758 missense possibly damaging 0.76
R4855:Amph UTSW 13 19084208 missense probably damaging 1.00
R4937:Amph UTSW 13 19104345 missense probably damaging 1.00
R4965:Amph UTSW 13 19137699 missense probably benign 0.12
R5777:Amph UTSW 13 19046016 missense probably damaging 1.00
R5787:Amph UTSW 13 18948454 missense possibly damaging 0.75
R6091:Amph UTSW 13 19125123 missense probably benign 0.01
R7100:Amph UTSW 13 19149841 makesense probably null
R7103:Amph UTSW 13 19149738 missense probably benign 0.00
V1662:Amph UTSW 13 19139370 missense probably benign 0.36
Posted On2012-04-20