Incidental Mutation 'R1528:Amph'
ID 166391
Institutional Source Beutler Lab
Gene Symbol Amph
Ensembl Gene ENSMUSG00000021314
Gene Name amphiphysin
Synonyms
MMRRC Submission 039568-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.284) question?
Stock # R1528 (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: 99.4%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.4%
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610008E11Rik T A 10: 78,903,530 (GRCm39) Q262L possibly damaging Het
Abcg4 T C 9: 44,186,020 (GRCm39) Y617C probably damaging Het
Ano1 T G 7: 144,149,303 (GRCm39) S853R probably damaging Het
Ap4e1 T A 2: 126,853,743 (GRCm39) S60R possibly damaging Het
Atp4b C A 8: 13,439,693 (GRCm39) K176N possibly damaging Het
Atxn2 A T 5: 121,940,171 (GRCm39) D982V probably damaging Het
Atxn2 T C 5: 121,951,593 (GRCm39) F646S probably damaging Het
Bcl2l13 T C 6: 120,847,755 (GRCm39) C136R possibly damaging Het
Bltp1 C T 3: 37,106,684 (GRCm39) H5005Y unknown Het
Cacna1i A G 15: 80,275,975 (GRCm39) probably null Het
Ccdc122 T A 14: 77,305,379 (GRCm39) V11D possibly damaging Het
Cdnf A G 2: 3,522,078 (GRCm39) D90G probably damaging Het
Cep104 T G 4: 154,078,965 (GRCm39) V323G probably benign Het
Chmp6 A G 11: 119,807,541 (GRCm39) D128G probably benign Het
Clec18a A T 8: 111,805,498 (GRCm39) M201K probably benign Het
Col11a1 A T 3: 114,010,644 (GRCm39) probably benign Het
Col6a4 A T 9: 105,952,419 (GRCm39) M493K probably damaging Het
Crygd A C 1: 65,102,216 (GRCm39) probably null Het
Dennd1c T C 17: 57,373,935 (GRCm39) T543A probably benign Het
Erbb4 A T 1: 68,117,741 (GRCm39) C891* probably null Het
Ercc5 A T 1: 44,217,401 (GRCm39) K915* probably null Het
Ercc6 A T 14: 32,240,979 (GRCm39) N168Y probably damaging Het
Esrp2 G T 8: 106,863,384 (GRCm39) P6T unknown Het
Exoc1 A G 5: 76,697,411 (GRCm39) K396R possibly damaging Het
Fat3 T A 9: 15,836,387 (GRCm39) Y4039F probably benign Het
Fcsk A T 8: 111,609,873 (GRCm39) L1047Q probably damaging Het
Fgf7 T A 2: 125,877,738 (GRCm39) M35K probably damaging Het
Fras1 G A 5: 96,784,678 (GRCm39) G887D probably damaging Het
Gbp4 A T 5: 105,269,658 (GRCm39) probably null Het
Homez A T 14: 55,095,162 (GRCm39) M182K probably benign Het
Hrnr G A 3: 93,230,101 (GRCm39) S113N possibly damaging Het
Ifit3b T G 19: 34,589,072 (GRCm39) S83A probably benign Het
Ildr2 A G 1: 166,098,064 (GRCm39) probably null Het
Klhdc1 A T 12: 69,309,972 (GRCm39) R291S probably benign Het
Krt77 T A 15: 101,769,523 (GRCm39) I413F probably damaging Het
Lipn A G 19: 34,046,070 (GRCm39) I14M probably damaging Het
Macf1 T G 4: 123,369,807 (GRCm39) R86S probably benign Het
Mroh8 C A 2: 157,071,975 (GRCm39) G510V probably damaging Het
Mycbp2 A T 14: 103,470,033 (GRCm39) D1255E possibly damaging Het
Nckap5 C T 1: 125,952,659 (GRCm39) V1234I possibly damaging Het
Nlrp9c T C 7: 26,081,723 (GRCm39) K668E probably damaging Het
Nod2 T C 8: 89,391,217 (GRCm39) M508T possibly damaging Het
Npffr1 A G 10: 61,450,016 (GRCm39) M97V possibly damaging Het
Nsd3 G A 8: 26,188,795 (GRCm39) V43M probably damaging Het
Nubp2 A G 17: 25,103,388 (GRCm39) V163A probably damaging Het
Oas1e A T 5: 120,926,054 (GRCm39) F338Y probably damaging Het
Oat C A 7: 132,165,998 (GRCm39) G196C probably damaging Het
Or4a69 C T 2: 89,312,897 (GRCm39) G194D probably damaging Het
Or52e8b A T 7: 104,673,971 (GRCm39) L72Q probably damaging Het
Or7a41 T C 10: 78,871,398 (GRCm39) L256P probably damaging Het
P2ry13 T C 3: 59,117,710 (GRCm39) T23A probably benign Het
Phf8-ps A G 17: 33,286,215 (GRCm39) S196P probably damaging Het
Pja2 C A 17: 64,616,217 (GRCm39) S226I possibly damaging Het
Pkhd1l1 T C 15: 44,390,120 (GRCm39) V1412A probably damaging Het
Plekhs1 T C 19: 56,468,427 (GRCm39) S332P probably damaging Het
Polr3e T A 7: 120,539,820 (GRCm39) N522K probably damaging Het
Prdm10 A G 9: 31,268,582 (GRCm39) T844A probably damaging Het
Ripk1 C T 13: 34,212,130 (GRCm39) P480L probably benign Het
Rnf139 T C 15: 58,771,064 (GRCm39) V363A probably damaging Het
Rnf19a A T 15: 36,265,801 (GRCm39) S99T possibly damaging Het
Rnf224 G A 2: 25,126,110 (GRCm39) T81I probably benign Het
Rpgrip1 T C 14: 52,349,681 (GRCm39) L23S probably benign Het
Setd5 T A 6: 113,098,699 (GRCm39) F758L probably damaging Het
Smlr1 C A 10: 25,411,976 (GRCm39) V4L possibly damaging Het
Snx1 T C 9: 66,016,825 (GRCm39) D34G probably damaging Het
Spaca5 A T X: 20,942,892 (GRCm39) T92S probably benign Het
Speer4f2 A G 5: 17,581,540 (GRCm39) T161A Het
Swi5 C A 2: 32,170,716 (GRCm39) probably null Het
Syne2 T A 12: 76,012,874 (GRCm39) D2689E probably benign Het
Tcof1 T A 18: 60,948,071 (GRCm39) K1299* probably null Het
Tmprss11e G A 5: 86,872,069 (GRCm39) T49I probably damaging Het
Tmx3 T A 18: 90,555,210 (GRCm39) V309D possibly damaging Het
Trim30b C G 7: 104,006,506 (GRCm39) V117L possibly damaging Het
Tsen2 C A 6: 115,536,989 (GRCm39) H248Q probably benign Het
Ttn T C 2: 76,567,412 (GRCm39) Y19500C probably damaging Het
Tubgcp2 A G 7: 139,613,696 (GRCm39) probably benign Het
Vwf A C 6: 125,585,254 (GRCm39) D712A possibly damaging Het
Wfdc2 A G 2: 164,407,828 (GRCm39) K166E probably damaging Het
Xrcc2 T C 5: 25,897,292 (GRCm39) D219G probably benign Het
Zc3h6 C T 2: 128,858,989 (GRCm39) P1007S probably benign Het
Zdhhc17 A T 10: 110,784,050 (GRCm39) probably null Het
Zfp369 T A 13: 65,439,979 (GRCm39) I221N probably damaging Het
Zfp655 A T 5: 145,181,411 (GRCm39) N423I 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
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
Predicted Primers PCR Primer
(F):5'- CCACTCCCACAAATGAATCTCTGCT -3'
(R):5'- CGGATGGAGTCCTGAATGTGCAA -3'

Sequencing Primer
(F):5'- ccttccttccttccttcctttc -3'
(R):5'- AATCACTTGTCCAGCTGACC -3'
Posted On 2014-04-13