Incidental Mutation 'R1822:Amph'
ID 206506
Institutional Source Beutler Lab
Gene Symbol Amph
Ensembl Gene ENSMUSG00000021314
Gene Name amphiphysin
Synonyms
MMRRC Submission 039850-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.284) question?
Stock # R1822 (G1)
Quality Score 99
Status Validated
Chromosome 13
Chromosomal Location 19132375-19335091 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 19132625 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 8 (I8N)
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: I8N

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000003345
Gene: ENSMUSG00000021314
AA Change: I8N

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: I8N

PolyPhen 2 Score 0.839 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000142766
Gene: ENSMUSG00000021314
AA Change: I8N

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
Meta Mutation Damage Score 0.2009 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.4%
  • 20x: 92.7%
Validation Efficiency 97% (105/108)
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: 100 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b G T 11: 109,847,901 (GRCm39) T798K possibly damaging Het
Abtb1 T C 6: 88,813,536 (GRCm39) T401A probably benign Het
Adsl G T 15: 80,846,943 (GRCm39) E70* probably null Het
Ahcyl2 A G 6: 29,768,583 (GRCm39) probably benign Het
Akr1a1 A G 4: 116,493,850 (GRCm39) V310A probably benign Het
Alpk3 T A 7: 80,726,679 (GRCm39) C121* probably null Het
Ano2 G A 6: 125,840,420 (GRCm39) A364T probably damaging Het
Apbb2 T C 5: 66,557,520 (GRCm39) T314A probably benign Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Atf7ip A G 6: 136,564,258 (GRCm39) T834A probably benign Het
Brca2 T G 5: 150,463,663 (GRCm39) D1142E probably benign Het
Brd10 T C 19: 29,693,814 (GRCm39) N1960S probably damaging Het
Cap2 A G 13: 46,768,823 (GRCm39) S210G probably benign Het
Capn2 C A 1: 182,300,525 (GRCm39) E596D possibly damaging Het
Cdc27 A T 11: 104,413,648 (GRCm39) S358R probably benign Het
Cdhr3 C T 12: 33,095,204 (GRCm39) G622S probably null Het
Clip2 A G 5: 134,532,081 (GRCm39) Y540H probably benign Het
Crhr1 A T 11: 104,023,898 (GRCm39) M1L probably benign Het
Csmd1 T C 8: 16,273,340 (GRCm39) T831A probably damaging Het
Cwc22 T C 2: 77,755,003 (GRCm39) probably benign Het
Cyp3a25 T A 5: 145,921,763 (GRCm39) K390N probably damaging Het
Cyp4a31 T C 4: 115,423,810 (GRCm39) probably null Het
Cytip A C 2: 58,024,158 (GRCm39) S221A probably benign Het
Dagla G A 19: 10,240,550 (GRCm39) R227C possibly damaging Het
Dhx57 A G 17: 80,560,514 (GRCm39) probably null Het
Dnah2 A T 11: 69,405,630 (GRCm39) D627E probably damaging Het
Dock8 A G 19: 25,138,422 (GRCm39) E1249G probably benign Het
Dpysl3 A G 18: 43,475,393 (GRCm39) V31A probably benign Het
Ecpas A G 4: 58,805,539 (GRCm39) probably null Het
Fan1 T C 7: 64,022,554 (GRCm39) N233S probably benign Het
Fras1 A T 5: 96,918,547 (GRCm39) I3528F probably damaging Het
Glipr1 T A 10: 111,832,765 (GRCm39) M58L possibly damaging Het
Gm10509 C T 17: 21,909,765 (GRCm39) P31S possibly damaging Het
Gm5070 T C 3: 95,318,355 (GRCm39) noncoding transcript Het
Gramd1a T C 7: 30,841,998 (GRCm39) N138S probably damaging Het
Grk5 T C 19: 61,078,410 (GRCm39) V489A probably damaging Het
Hmcn2 C T 2: 31,273,704 (GRCm39) S1352L probably damaging Het
Hoxa5 G A 6: 52,179,712 (GRCm39) T221I probably damaging Het
Hsd17b2 C A 8: 118,485,488 (GRCm39) P317Q possibly damaging Het
Ifi213 T A 1: 173,417,408 (GRCm39) S335C probably damaging Het
Izumo4 A T 10: 80,539,729 (GRCm39) D156V probably damaging Het
Khnyn A T 14: 56,123,309 (GRCm39) E21V probably damaging Het
Kmt2d C T 15: 98,759,661 (GRCm39) G1199E unknown Het
Lipk T C 19: 34,016,491 (GRCm39) W240R probably benign Het
Lpar5 A G 6: 125,058,378 (GRCm39) D33G possibly damaging Het
Lrp11 A G 10: 7,471,961 (GRCm39) D219G probably damaging Het
Lrrcc1 T C 3: 14,624,285 (GRCm39) probably benign Het
Man2a1 T C 17: 65,047,837 (GRCm39) C252R probably damaging Het
Map2k5 A G 9: 63,142,585 (GRCm39) F354L possibly damaging Het
Mlh3 T C 12: 85,312,919 (GRCm39) probably benign Het
Mmp28 A G 11: 83,335,045 (GRCm39) I331T probably damaging Het
Muc4 G C 16: 32,753,919 (GRCm38) R1265P probably benign Het
Myo3a A T 2: 22,345,091 (GRCm39) Y509F probably damaging Het
Nckap1 A G 2: 80,348,242 (GRCm39) S898P possibly damaging Het
Nectin1 T A 9: 43,702,374 (GRCm39) Y40* probably null Het
Neurl1a T A 19: 47,245,898 (GRCm39) V493E probably benign Het
Ntf3 A C 6: 126,079,209 (GRCm39) I99S probably benign Het
Or10ag53 T C 2: 87,083,054 (GRCm39) S258P possibly damaging Het
Or1l4 C G 2: 37,091,992 (GRCm39) H246Q probably damaging Het
Or1p1c A G 11: 74,161,066 (GRCm39) T284A probably benign Het
Or2ak5 A T 11: 58,611,133 (GRCm39) V247E probably damaging Het
Or2i1 A G 17: 37,507,722 (GRCm39) probably benign Het
Or2y1c T A 11: 49,361,795 (GRCm39) F272L probably benign Het
Or6k8-ps1 C T 1: 173,979,780 (GRCm39) R233C probably benign Het
Otof G A 5: 30,536,054 (GRCm39) T1343I probably benign Het
Otop2 A T 11: 115,215,454 (GRCm39) Y125F probably benign Het
Pate3 G A 9: 35,557,401 (GRCm39) T85I probably benign Het
Pdpk1 A T 17: 24,317,150 (GRCm39) probably benign Het
Phf11d T C 14: 59,593,778 (GRCm39) H132R probably benign Het
Pik3c3 G A 18: 30,477,130 (GRCm39) probably null Het
Pkhd1 C A 1: 20,417,681 (GRCm39) G2490V probably damaging Het
Prkdc G A 16: 15,577,469 (GRCm39) D2372N probably damaging Het
Ptprq C T 10: 107,554,339 (GRCm39) E129K probably damaging Het
Pym1 G A 10: 128,601,913 (GRCm39) probably benign Het
Ralgapb T A 2: 158,334,372 (GRCm39) V1027E probably damaging Het
Rita1 T C 5: 120,747,645 (GRCm39) T218A possibly damaging Het
Rrh T A 3: 129,606,282 (GRCm39) T218S probably damaging Het
Scaper C T 9: 55,767,184 (GRCm39) A416T probably damaging Het
Scn3a A G 2: 65,314,716 (GRCm39) L1115P probably damaging Het
Serpinb6e A T 13: 34,017,217 (GRCm39) S268T probably damaging Het
Skic3 C A 13: 76,278,407 (GRCm39) H574N probably benign Het
Slc1a6 G A 10: 78,648,765 (GRCm39) W495* probably null Het
Slc32a1 A G 2: 158,453,298 (GRCm39) H46R probably benign Het
Slc37a1 C T 17: 31,519,405 (GRCm39) probably benign Het
Slc6a5 T A 7: 49,606,173 (GRCm39) W694R probably benign Het
Smarcd2 A T 11: 106,158,222 (GRCm39) D113E probably benign Het
Sod3 G T 5: 52,525,504 (GRCm39) V68L probably benign Het
Srpk3 G A X: 72,821,561 (GRCm39) R425Q possibly damaging Het
Sspo A T 6: 48,469,820 (GRCm39) Q4506L possibly damaging Het
Stam2 T A 2: 52,606,539 (GRCm39) E115D probably damaging Het
Sult1c2 A T 17: 54,280,953 (GRCm39) L50H probably damaging Het
Tbc1d22a T C 15: 86,119,770 (GRCm39) V22A possibly damaging Het
Togaram1 T G 12: 65,042,409 (GRCm39) V1156G probably damaging Het
Tpp1 T C 7: 105,398,854 (GRCm39) T192A probably benign Het
Ush1c A G 7: 45,859,325 (GRCm39) L498P probably damaging Het
Vit A C 17: 78,930,265 (GRCm39) Q410P probably benign Het
Vmn2r27 C T 6: 124,208,593 (GRCm39) G51S probably benign Het
Zfp341 A G 2: 154,488,054 (GRCm39) E839G possibly damaging Het
Zhx3 G A 2: 160,622,275 (GRCm39) L631F probably benign Het
Zmpste24 T C 4: 120,944,513 (GRCm39) E95G 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
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
Predicted Primers PCR Primer
(F):5'- TTTAAACCGGTCCTGTCGC -3'
(R):5'- TGCAATCGTTGAGAGCAGAG -3'

Sequencing Primer
(F):5'- ctcctcctccttctcttc -3'
(R):5'- AGAGACAGGGGAGTCCTCC -3'
Posted On 2014-06-23