Incidental Mutation 'IGL02157:Amph'
ID 282272
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 # IGL02157
Quality Score
Status
Chromosome 13
Chromosomal Location 19132375-19335091 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 19288401 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 297 (T297S)
Ref Sequence ENSEMBL: ENSMUSP00000142766 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003345] [ENSMUST00000200466]
AlphaFold Q7TQF7
Predicted Effect probably benign
Transcript: ENSMUST00000003345
AA Change: T297S

PolyPhen 2 Score 0.223 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000003345
Gene: ENSMUSG00000021314
AA Change: T297S

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: T297S

PolyPhen 2 Score 0.596 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000142766
Gene: ENSMUSG00000021314
AA Change: T297S

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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b T C 5: 8,855,487 (GRCm39) probably benign Het
Amotl1 A T 9: 14,483,011 (GRCm39) probably benign Het
Arhgap31 A G 16: 38,444,263 (GRCm39) V198A probably damaging Het
Bop1 T C 15: 76,339,772 (GRCm39) D216G possibly damaging Het
Cdh13 T C 8: 119,232,410 (GRCm39) I38T possibly damaging Het
Clmn T C 12: 104,748,177 (GRCm39) T457A probably benign Het
Clstn2 A C 9: 97,423,928 (GRCm39) M279R probably benign Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Fam83h A T 15: 75,876,904 (GRCm39) V208E probably damaging Het
Fer A G 17: 64,445,894 (GRCm39) N785S probably benign Het
Fnip1 T C 11: 54,378,589 (GRCm39) L225P probably damaging Het
Gbp11 C T 5: 105,475,374 (GRCm39) V325M possibly damaging Het
Glis1 A G 4: 107,484,758 (GRCm39) T418A probably benign Het
Hook2 C T 8: 85,727,779 (GRCm39) probably benign Het
Hoxa6 C A 6: 52,185,171 (GRCm39) C145F possibly damaging Het
Lyst G A 13: 13,835,541 (GRCm39) C1741Y probably benign Het
Mbd5 T C 2: 49,168,987 (GRCm39) V1156A probably benign Het
Mon2 G A 10: 122,849,377 (GRCm39) P1308S probably damaging Het
Mta2 T A 19: 8,924,613 (GRCm39) probably benign Het
Nup188 T A 2: 30,219,385 (GRCm39) L867* probably null Het
Oca2 G A 7: 55,974,545 (GRCm39) probably null Het
Or13a22 T A 7: 140,072,847 (GRCm39) C99S probably damaging Het
Or6c88 A G 10: 129,407,019 (GRCm39) E165G probably damaging Het
Or7e166 T A 9: 19,624,585 (GRCm39) V154E probably benign Het
Plekhh2 A G 17: 84,874,370 (GRCm39) probably benign Het
Pramel22 A T 4: 143,380,947 (GRCm39) C359S probably damaging Het
Rhbdd3 T C 11: 5,055,424 (GRCm39) probably benign Het
Timeless T A 10: 128,078,255 (GRCm39) V255E probably benign Het
Tmt1b T G 10: 128,796,486 (GRCm39) T108P possibly damaging Het
Trh A T 6: 92,219,948 (GRCm39) S123T probably benign Het
Ugdh C T 5: 65,580,035 (GRCm39) A252T probably damaging Het
Zfp619 A G 7: 39,184,288 (GRCm39) Y106C probably damaging Het
Zic5 G A 14: 122,696,924 (GRCm39) P564S unknown 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
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
IGL03122:Amph APN 13 19,287,113 (GRCm39) missense probably damaging 0.98
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 2015-04-16