Incidental Mutation 'R2004:Amph'
ID 223465
Institutional Source Beutler Lab
Gene Symbol Amph
Ensembl Gene ENSMUSG00000021314
Gene Name amphiphysin
Synonyms
MMRRC Submission 040013-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.284) question?
Stock # R2004 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 19132375-19335091 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 19326198 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 643 (V643M)
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: V639M

PolyPhen 2 Score 0.231 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000003345
Gene: ENSMUSG00000021314
AA Change: V639M

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 probably damaging
Transcript: ENSMUST00000200466
AA Change: V643M

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000142766
Gene: ENSMUSG00000021314
AA Change: V643M

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
Meta Mutation Damage Score 0.2469 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
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: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass A T 6: 23,092,561 (GRCm39) Y146* probably null Het
Adcy2 A G 13: 68,944,722 (GRCm39) L220P probably damaging Het
Agl T C 3: 116,574,914 (GRCm39) Y660C probably damaging Het
Ak1 A G 2: 32,519,622 (GRCm39) T17A probably benign Het
Ankrd11 A T 8: 123,629,161 (GRCm39) probably null Het
Ap5b1 T C 19: 5,620,502 (GRCm39) S641P possibly damaging Het
Apoc4 A G 7: 19,415,304 (GRCm39) M1T probably null Het
Arhgap5 T C 12: 52,564,817 (GRCm39) V596A probably benign Het
Ascc3 A G 10: 50,493,838 (GRCm39) E91G probably damaging Het
Bach2 T A 4: 32,580,055 (GRCm39) V637E probably benign Het
Bicd2 T G 13: 49,532,881 (GRCm39) L489R possibly damaging Het
Bltp1 C T 3: 36,949,527 (GRCm39) T2I possibly damaging Het
Boc A T 16: 44,322,007 (GRCm39) probably null Het
Cbln2 T A 18: 86,734,791 (GRCm39) V188D probably damaging Het
Ccl11 A C 11: 81,953,123 (GRCm39) T94P probably damaging Het
Cd109 A T 9: 78,611,044 (GRCm39) H1220L probably benign Het
Cd226 A G 18: 89,265,435 (GRCm39) I125V probably benign Het
Cep135 T A 5: 76,780,176 (GRCm39) probably null Het
Cgnl1 T G 9: 71,537,821 (GRCm39) E1233A probably damaging Het
Ckap5 T A 2: 91,437,891 (GRCm39) D1597E possibly damaging Het
Clptm1 A G 7: 19,380,762 (GRCm39) I63T possibly damaging Het
Cpsf7 C T 19: 10,518,073 (GRCm39) P428S probably damaging Het
Cuedc1 C T 11: 88,068,216 (GRCm39) P155S probably damaging Het
Dgkb T C 12: 38,134,228 (GRCm39) Y45H probably damaging Het
Dglucy T C 12: 100,823,181 (GRCm39) F459L probably damaging Het
Dmp1 T A 5: 104,359,790 (GRCm39) D155E possibly damaging Het
Dnah1 T A 14: 31,023,813 (GRCm39) I960F possibly damaging Het
Drosha G T 15: 12,915,467 (GRCm39) M795I probably damaging Het
Dsg1b A G 18: 20,529,532 (GRCm39) T326A probably damaging Het
Dusp16 T G 6: 134,695,802 (GRCm39) N343T probably benign Het
Faim2 T C 15: 99,398,127 (GRCm39) S274G possibly damaging Het
Fhip2a G T 19: 57,370,324 (GRCm39) V523L probably benign Het
Fndc1 T C 17: 8,023,761 (GRCm39) R65G probably damaging Het
Fnip2 A T 3: 79,419,632 (GRCm39) probably benign Het
Grm3 T C 5: 9,639,793 (GRCm39) Y84C possibly damaging Het
Herc2 T C 7: 55,787,607 (GRCm39) F1755L probably damaging Het
Hivep1 C T 13: 42,313,625 (GRCm39) T1955I possibly damaging Het
Ift20 T C 11: 78,431,797 (GRCm39) I97T probably damaging Het
Il36rn T C 2: 24,171,376 (GRCm39) C155R probably damaging Het
Lca5l T A 16: 95,963,849 (GRCm39) K358N probably damaging Het
Lca5l T C 16: 95,977,218 (GRCm39) N196S possibly damaging Het
Maf1 G A 15: 76,237,563 (GRCm39) D175N probably damaging Het
Mical3 T C 6: 120,928,283 (GRCm39) K996E probably damaging Het
Midn A G 10: 79,990,983 (GRCm39) N331S probably benign Het
Mki67 T A 7: 135,300,238 (GRCm39) K1599* probably null Het
Mlx A G 11: 100,979,805 (GRCm39) Q162R possibly damaging Het
Nalf1 A G 8: 9,820,607 (GRCm39) S138P probably benign Het
Ngp T C 9: 110,249,929 (GRCm39) C76R probably damaging Het
Nin C T 12: 70,072,251 (GRCm39) G1210D probably benign Het
Nlgn1 A G 3: 25,488,034 (GRCm39) I738T probably benign Het
Nop53 A C 7: 15,672,153 (GRCm39) F465C probably damaging Het
Npas3 A G 12: 54,114,680 (GRCm39) D503G possibly damaging Het
Npbwr1 T A 1: 5,986,570 (GRCm39) S315C probably damaging Het
Nup42 G T 5: 24,386,989 (GRCm39) G260* probably null Het
Ogdh G C 11: 6,284,626 (GRCm39) R200P possibly damaging Het
Or4b13 T A 2: 90,083,036 (GRCm39) I99L probably benign Het
Or52n20 A G 7: 104,320,808 (GRCm39) T300A possibly damaging Het
Or5m13b T G 2: 85,753,939 (GRCm39) probably null Het
Or6ae1 C T 7: 139,742,729 (GRCm39) V45I probably damaging Het
Or7g16 G A 9: 18,726,801 (GRCm39) S263L probably benign Het
Or7g33 A T 9: 19,448,688 (GRCm39) C179* probably null Het
Ovgp1 T A 3: 105,894,309 (GRCm39) probably benign Het
Papln T A 12: 83,819,992 (GRCm39) C150S probably damaging Het
Pde1c A T 6: 56,135,996 (GRCm39) L316Q probably damaging Het
Pdlim2 C T 14: 70,402,228 (GRCm39) R296H probably damaging Het
Piezo2 G T 18: 63,277,997 (GRCm39) D302E probably damaging Het
Pirb A T 7: 3,720,637 (GRCm39) L287Q probably benign Het
Plin1 A G 7: 79,375,378 (GRCm39) probably benign Het
Plxnc1 A G 10: 94,688,484 (GRCm39) I698T probably damaging Het
Ppp1r12c G T 7: 4,485,974 (GRCm39) C572* probably null Het
Ptgis T C 2: 167,056,769 (GRCm39) M273V possibly damaging Het
Samd14 C A 11: 94,914,110 (GRCm39) T283K probably damaging Het
Scnn1g A T 7: 121,337,411 (GRCm39) K91* probably null Het
Slc24a4 A G 12: 102,180,166 (GRCm39) Q95R probably damaging Het
Slfn9 T G 11: 82,879,027 (GRCm39) D34A probably benign Het
Smarca4 A T 9: 21,588,776 (GRCm39) I1193F probably damaging Het
Spata31e5 A G 1: 28,816,260 (GRCm39) W591R probably damaging Het
Sphkap T C 1: 83,255,632 (GRCm39) M706V probably benign Het
Stard9 C A 2: 120,504,117 (GRCm39) S221R probably damaging Het
Stxbp1 T C 2: 32,688,201 (GRCm39) D488G probably damaging Het
Sugp2 C T 8: 70,695,306 (GRCm39) probably null Het
Tekt5 T C 16: 10,213,070 (GRCm39) I72V probably benign Het
Themis T A 10: 28,658,720 (GRCm39) N582K probably benign Het
Tmed11 C A 5: 108,934,000 (GRCm39) M65I possibly damaging Het
Top3a G T 11: 60,633,315 (GRCm39) P927Q probably damaging Het
Trpa1 A T 1: 14,976,207 (GRCm39) N165K possibly damaging Het
Tsfm A G 10: 126,866,663 (GRCm39) S2P probably damaging Het
Wdr47 C A 3: 108,534,758 (GRCm39) S559* probably null Het
Wnt2b T C 3: 104,860,331 (GRCm39) Y192C probably damaging Het
Zfp280b A G 10: 75,874,370 (GRCm39) D83G probably benign Het
Zfp345 T C 2: 150,314,038 (GRCm39) T500A possibly damaging Het
Zfp78 T A 7: 6,382,074 (GRCm39) C343S probably 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
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
Predicted Primers PCR Primer
(F):5'- CAAGCTGGCTTGCAGTCATG -3'
(R):5'- TTGGGTAGCAGCATGTTAGAAAAC -3'

Sequencing Primer
(F):5'- CAGTCATGGCTAGTGTCCTGC -3'
(R):5'- ACCCTCCAGTCGTTACAT -3'
Posted On 2014-08-25