Incidental Mutation 'IGL03122:Amph'
ID 410004
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Amph
Ensembl Gene ENSMUSG00000021314
Gene Name amphiphysin
Synonyms
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.284) question?
Stock # IGL03122
Quality Score
Status
Chromosome 13
Chromosomal Location 19132375-19335091 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 19287113 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 274 (T274M)
Ref Sequence ENSEMBL: ENSMUSP00000003345 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003345] [ENSMUST00000200466]
AlphaFold Q7TQF7
Predicted Effect probably damaging
Transcript: ENSMUST00000003345
AA Change: T274M

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000003345
Gene: ENSMUSG00000021314
AA Change: T274M

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: ENSMUST00000200273
Predicted Effect possibly damaging
Transcript: ENSMUST00000200466
AA Change: T274M

PolyPhen 2 Score 0.769 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000142766
Gene: ENSMUSG00000021314
AA Change: T274M

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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg7 G A 16: 56,590,725 (GRCm39) probably benign Het
Afap1l1 T C 18: 61,866,902 (GRCm39) D719G probably benign Het
Atp2c2 T A 8: 120,469,414 (GRCm39) D396E possibly damaging Het
Atpaf1 T C 4: 115,648,475 (GRCm39) I164T probably damaging Het
Avpr1b C A 1: 131,528,257 (GRCm39) P260Q probably damaging Het
Cacna1a T C 8: 85,189,305 (GRCm39) probably benign Het
Cald1 A G 6: 34,741,963 (GRCm39) I449V probably damaging Het
Ccdc24 A G 4: 117,728,942 (GRCm39) probably null Het
Cdcp3 A G 7: 130,798,243 (GRCm39) Q84R possibly damaging Het
Cenpk C A 13: 104,378,885 (GRCm39) Q134K probably damaging Het
Clasp1 A G 1: 118,438,007 (GRCm39) N373D probably damaging Het
Col7a1 T A 9: 108,790,751 (GRCm39) S1042T unknown Het
Cry2 G A 2: 92,243,640 (GRCm39) R439C probably damaging Het
Dip2a G T 10: 76,110,880 (GRCm39) D1138E probably benign Het
Dlgap3 T C 4: 127,089,018 (GRCm39) S205P possibly damaging Het
Echdc2 T A 4: 108,022,777 (GRCm39) S18T probably benign Het
Efcab2 T A 1: 178,265,042 (GRCm39) V36E probably damaging Het
Galk1 A T 11: 115,901,065 (GRCm39) probably null Het
Hoxc11 A T 15: 102,863,390 (GRCm39) N144Y probably damaging Het
Ift140 T A 17: 25,305,884 (GRCm39) C824S probably damaging Het
Inf2 A G 12: 112,570,663 (GRCm39) S401G probably benign Het
Kcnn1 T G 8: 71,307,724 (GRCm39) D106A probably damaging Het
Lama4 A G 10: 38,943,959 (GRCm39) N754S probably benign Het
Marchf6 A G 15: 31,478,439 (GRCm39) probably null Het
Nlrp1b A C 11: 71,072,659 (GRCm39) C395G probably benign Het
Or2n1d T C 17: 38,646,192 (GRCm39) V48A probably benign Het
Or4k2 A T 14: 50,424,461 (GRCm39) M71K probably damaging Het
Or5ac15 T C 16: 58,939,801 (GRCm39) M211V probably benign Het
Or9q1 A G 19: 13,805,014 (GRCm39) S249P possibly damaging Het
Scel A G 14: 103,836,842 (GRCm39) R477G possibly damaging Het
Sdk2 A G 11: 113,732,894 (GRCm39) S984P probably damaging Het
Slc4a7 C T 14: 14,782,040 (GRCm38) probably benign Het
Tas2r103 A G 6: 133,013,872 (GRCm39) S65P probably damaging Het
Tnip2 T C 5: 34,661,095 (GRCm39) E119G possibly damaging Het
Zgrf1 T A 3: 127,381,782 (GRCm39) L310M possibly damaging Het
Other mutations in Amph
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00540:Amph APN 13 19,304,776 (GRCm39) missense probably damaging 1.00
IGL01866:Amph APN 13 19,326,172 (GRCm39) missense probably damaging 1.00
IGL02157:Amph APN 13 19,288,401 (GRCm39) missense possibly damaging 0.60
IGL02300:Amph APN 13 19,270,774 (GRCm39) missense probably damaging 1.00
IGL02435:Amph APN 13 19,323,333 (GRCm39) splice site probably benign
IGL03060:Amph APN 13 19,278,984 (GRCm39) missense probably damaging 0.99
R0037:Amph UTSW 13 19,284,823 (GRCm39) missense possibly damaging 0.90
R0646:Amph UTSW 13 19,297,286 (GRCm39) missense possibly damaging 0.95
R0652:Amph UTSW 13 19,270,791 (GRCm39) splice site probably null
R1005:Amph UTSW 13 19,326,198 (GRCm39) missense probably damaging 0.97
R1006:Amph UTSW 13 19,326,198 (GRCm39) missense probably damaging 0.97
R1199:Amph UTSW 13 19,326,198 (GRCm39) missense probably damaging 0.97
R1200:Amph UTSW 13 19,326,198 (GRCm39) missense probably damaging 0.97
R1201:Amph UTSW 13 19,326,198 (GRCm39) missense probably damaging 0.97
R1333:Amph UTSW 13 19,326,198 (GRCm39) missense probably damaging 0.97
R1334:Amph UTSW 13 19,326,198 (GRCm39) missense probably damaging 0.97
R1335:Amph UTSW 13 19,326,198 (GRCm39) missense probably damaging 0.97
R1337:Amph UTSW 13 19,326,198 (GRCm39) missense probably damaging 0.97
R1338:Amph UTSW 13 19,326,198 (GRCm39) missense probably damaging 0.97
R1384:Amph UTSW 13 19,326,198 (GRCm39) missense probably damaging 0.97
R1397:Amph UTSW 13 19,326,198 (GRCm39) missense probably damaging 0.97
R1501:Amph UTSW 13 19,288,461 (GRCm39) nonsense probably null
R1528:Amph UTSW 13 19,326,198 (GRCm39) missense probably damaging 0.97
R1822:Amph UTSW 13 19,132,625 (GRCm39) missense probably damaging 0.98
R2004:Amph UTSW 13 19,326,198 (GRCm39) missense probably damaging 0.97
R2006:Amph UTSW 13 19,326,198 (GRCm39) missense probably damaging 0.97
R2061:Amph UTSW 13 19,309,205 (GRCm39) nonsense probably null
R2111:Amph UTSW 13 19,300,436 (GRCm39) splice site probably benign
R2329:Amph UTSW 13 19,323,520 (GRCm39) missense probably benign
R2878:Amph UTSW 13 19,288,437 (GRCm39) missense possibly damaging 0.95
R3121:Amph UTSW 13 19,297,316 (GRCm39) nonsense probably null
R3548:Amph UTSW 13 19,287,129 (GRCm39) missense probably damaging 1.00
R4059:Amph UTSW 13 19,326,168 (GRCm39) missense probably damaging 1.00
R4369:Amph UTSW 13 19,321,870 (GRCm39) missense probably benign 0.20
R4492:Amph UTSW 13 19,333,928 (GRCm39) missense possibly damaging 0.76
R4855:Amph UTSW 13 19,268,378 (GRCm39) missense probably damaging 1.00
R4937:Amph UTSW 13 19,288,515 (GRCm39) missense probably damaging 1.00
R4965:Amph UTSW 13 19,321,869 (GRCm39) missense probably benign 0.12
R5777:Amph UTSW 13 19,230,186 (GRCm39) missense probably damaging 1.00
R5787:Amph UTSW 13 19,132,624 (GRCm39) missense possibly damaging 0.75
R6091:Amph UTSW 13 19,309,293 (GRCm39) missense probably benign 0.01
R7100:Amph UTSW 13 19,334,011 (GRCm39) makesense probably null
R7103:Amph UTSW 13 19,333,908 (GRCm39) missense probably benign 0.00
R7451:Amph UTSW 13 19,261,538 (GRCm39) missense probably damaging 1.00
R7522:Amph UTSW 13 19,270,715 (GRCm39) missense probably damaging 0.96
R8165:Amph UTSW 13 19,279,007 (GRCm39) missense probably benign 0.05
R8166:Amph UTSW 13 19,132,660 (GRCm39) missense possibly damaging 0.91
R8214:Amph UTSW 13 19,288,468 (GRCm39) missense possibly damaging 0.81
R9021:Amph UTSW 13 19,284,071 (GRCm39) missense probably benign 0.35
R9241:Amph UTSW 13 19,278,972 (GRCm39) missense probably damaging 1.00
R9469:Amph UTSW 13 19,270,769 (GRCm39) missense probably damaging 1.00
R9717:Amph UTSW 13 19,309,253 (GRCm39) missense probably benign 0.07
R9755:Amph UTSW 13 19,297,325 (GRCm39) missense probably damaging 1.00
V1662:Amph UTSW 13 19,323,540 (GRCm39) missense probably benign 0.36
Z1177:Amph UTSW 13 19,323,504 (GRCm39) missense possibly damaging 0.74
Posted On 2016-08-02