Incidental Mutation 'R9755:Amph'
ID 732696
Institutional Source Beutler Lab
Gene Symbol Amph
Ensembl Gene ENSMUSG00000021314
Gene Name amphiphysin
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.284) question?
Stock # R9755 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 19132375-19335091 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 19297325 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 357 (D357V)
Ref Sequence ENSEMBL: ENSMUSP00000142766 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003345] [ENSMUST00000200466]
AlphaFold Q7TQF7
Predicted Effect probably damaging
Transcript: ENSMUST00000003345
AA Change: D357V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000003345
Gene: ENSMUSG00000021314
AA Change: D357V

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 probably damaging
Transcript: ENSMUST00000200466
AA Change: D357V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142766
Gene: ENSMUSG00000021314
AA Change: D357V

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
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 99.1%
  • 20x: 97.8%
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acin1 A T 14: 54,889,292 (GRCm39) M774K probably damaging Het
Adamts9 T C 6: 92,856,922 (GRCm39) R906G probably benign Het
Adgrl4 A T 3: 151,216,418 (GRCm39) T534S probably benign Het
Arhgap33 C T 7: 30,227,926 (GRCm39) V452I possibly damaging Het
B4galnt2 G A 11: 95,774,801 (GRCm39) Q160* probably null Het
C1galt1 T G 6: 7,867,019 (GRCm39) N288K probably benign Het
Cacna1c T C 6: 118,651,559 (GRCm39) D967G probably damaging Het
Cacul1 C T 19: 60,533,955 (GRCm39) E216K probably damaging Het
Cenpq A T 17: 41,243,712 (GRCm39) S45R probably benign Het
Cfap54 T A 10: 92,757,230 (GRCm39) M2216L unknown Het
Cfhr1 A G 1: 139,487,889 (GRCm39) F3S probably benign Het
Csf2rb T G 15: 78,232,824 (GRCm39) Y710* probably null Het
Dhh A G 15: 98,792,939 (GRCm39) V107A possibly damaging Het
Etl4 A T 2: 20,790,048 (GRCm39) T849S probably benign Het
Gnrh1 G A 14: 67,986,699 (GRCm39) E78K possibly damaging Het
Golga3 A G 5: 110,340,847 (GRCm39) T514A probably benign Het
Gramd1c T A 16: 43,803,879 (GRCm39) K393N probably benign Het
Kcp T C 6: 29,492,460 (GRCm39) Y844C probably damaging Het
Lrrc15 T A 16: 30,093,147 (GRCm39) H64L possibly damaging Het
Mak G T 13: 41,199,623 (GRCm39) Q339K probably benign Het
Mdfic G T 6: 15,799,758 (GRCm39) C295F probably damaging Het
Mdfic2 A T 6: 98,225,147 (GRCm39) N45K probably benign Het
Mfsd14b C A 13: 65,221,414 (GRCm39) V293L probably benign Het
Miip A T 4: 147,950,319 (GRCm39) Y92* probably null Het
Mycbp2 A T 14: 103,551,806 (GRCm39) S175T probably benign Het
Nacad A G 11: 6,549,374 (GRCm39) probably null Het
Ndnf T G 6: 65,680,502 (GRCm39) D260E probably benign Het
Nphp1 G A 2: 127,595,951 (GRCm39) Q505* probably null Het
Or12e7 C A 2: 87,287,719 (GRCm39) A70E probably damaging Het
Or8g29-ps1 A G 9: 39,200,970 (GRCm39) V72A possibly damaging Het
Plcg1 G A 2: 160,573,780 (GRCm39) G15D probably benign Het
Ppm1h A G 10: 122,638,165 (GRCm39) Y145C probably damaging Het
Prickle2 C T 6: 92,399,319 (GRCm39) C186Y probably damaging Het
Prmt6 A C 3: 110,157,359 (GRCm39) L310R probably damaging Het
Psg25 A T 7: 18,260,460 (GRCm39) I146N probably benign Het
Sapcd1 A G 17: 35,245,400 (GRCm39) S128P probably benign Het
Scart2 T A 7: 139,841,544 (GRCm39) probably null Het
Sema3b T C 9: 107,478,784 (GRCm39) S331G probably damaging Het
Shank1 G A 7: 43,962,342 (GRCm39) S71N unknown Het
Skil A G 3: 31,151,544 (GRCm39) E22G probably benign Het
Slc13a1 T C 6: 24,134,407 (GRCm39) I159V probably benign Het
Slc44a4 A G 17: 35,136,331 (GRCm39) I41V probably benign Het
Taar2 T C 10: 23,817,038 (GRCm39) F193L probably damaging Het
Taar8a A G 10: 23,952,995 (GRCm39) I200V probably benign Het
Trpc4 A G 3: 54,223,215 (GRCm39) Y717C probably damaging Het
Vmn2r116 A T 17: 23,620,065 (GRCm39) T600S probably damaging Het
Vwa1 G A 4: 155,857,336 (GRCm39) P154L probably damaging Het
Zfp318 A G 17: 46,722,055 (GRCm39) T1353A probably damaging Het
Zfp830 C T 11: 82,655,805 (GRCm39) T203I 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
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
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
Predicted Primers PCR Primer
(F):5'- GTCCAGGGACATGAGTTGTG -3'
(R):5'- TTCTGAGGCAAACAGCTCAGC -3'

Sequencing Primer
(F):5'- GTGTGGCTAGACTCTATCACTGC -3'
(R):5'- CAGCTCAGCGGCAAGAG -3'
Posted On 2022-11-14