Incidental Mutation 'R4369:Amph'
ID 325913
Institutional Source Beutler Lab
Gene Symbol Amph
Ensembl Gene ENSMUSG00000021314
Gene Name amphiphysin
Synonyms
MMRRC Submission 041116-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.284) question?
Stock # R4369 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 19132375-19335091 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 19321870 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 516 (S516R)
Ref Sequence ENSEMBL: ENSMUSP00000003345 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003345] [ENSMUST00000200466]
AlphaFold Q7TQF7
Predicted Effect probably benign
Transcript: ENSMUST00000003345
AA Change: S516R

PolyPhen 2 Score 0.197 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000003345
Gene: ENSMUSG00000021314
AA Change: S516R

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 benign
Transcript: ENSMUST00000200466
AA Change: S520R

PolyPhen 2 Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000142766
Gene: ENSMUSG00000021314
AA Change: S520R

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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.7%
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730596B20Rik A T 6: 52,156,042 (GRCm39) probably benign Het
A730018C14Rik T C 12: 112,382,048 (GRCm39) noncoding transcript Het
Abcc1 T G 16: 14,278,857 (GRCm39) S1056A possibly damaging Het
Akr1c19 A T 13: 4,283,779 (GRCm39) K4* probably null Het
Apoh T C 11: 108,288,205 (GRCm39) F108L probably damaging Het
Arg2 T C 12: 79,196,746 (GRCm39) S156P probably damaging Het
AU018091 A T 7: 3,207,815 (GRCm39) L582* probably null Het
Bckdk C T 7: 127,505,591 (GRCm39) A238V probably benign Het
Bean1 T A 8: 104,943,742 (GRCm39) V275D probably damaging Het
Brpf3 C T 17: 29,055,594 (GRCm39) A1181V probably damaging Het
Cfb T C 17: 35,079,290 (GRCm39) K287R probably damaging Het
Cpd T C 11: 76,688,537 (GRCm39) N912D possibly damaging Het
Cyp4f14 T C 17: 33,128,232 (GRCm39) N261S probably benign Het
Dennd3 T C 15: 73,412,658 (GRCm39) I440T probably damaging Het
Dhx38 C T 8: 110,279,763 (GRCm39) V976I probably damaging Het
Dpep2 T G 8: 106,711,707 (GRCm39) L573F probably benign Het
Ebag9 T C 15: 44,491,865 (GRCm39) S86P probably benign Het
Epha1 T C 6: 42,342,391 (GRCm39) Y319C probably damaging Het
Eps8l3 T C 3: 107,798,330 (GRCm39) Y466H possibly damaging Het
Ercc6 A G 14: 32,239,164 (GRCm39) E84G probably damaging Het
Ffar1 A G 7: 30,560,033 (GRCm39) I288T probably benign Het
Flnb C T 14: 7,942,216 (GRCm38) T2398I probably benign Het
Galnt15 T C 14: 31,751,496 (GRCm39) F16S possibly damaging Het
Golgb1 A G 16: 36,737,269 (GRCm39) E2172G probably damaging Het
Lhx4 T A 1: 155,580,560 (GRCm39) H161L probably benign Het
Lrp1 T C 10: 127,386,155 (GRCm39) N3457S possibly damaging Het
Map7d1 A T 4: 126,128,866 (GRCm39) S436T probably damaging Het
Nmral1 T C 16: 4,532,394 (GRCm39) Y139C probably damaging Het
Noc2l A G 4: 156,321,853 (GRCm39) D84G possibly damaging Het
Or2a25 T A 6: 42,889,211 (GRCm39) Y251* probably null Het
Or5p79 C T 7: 108,221,096 (GRCm39) L26F probably benign Het
Osbpl11 T C 16: 33,045,018 (GRCm39) S386P probably damaging Het
Papss2 A G 19: 32,618,791 (GRCm39) H283R probably damaging Het
Pcdha11 T C 18: 37,139,796 (GRCm39) V475A possibly damaging Het
Pglyrp3 T C 3: 91,935,386 (GRCm39) I212T probably damaging Het
Pkhd1l1 C T 15: 44,368,949 (GRCm39) R865W probably benign Het
Prdm9 T C 17: 15,764,708 (GRCm39) T691A probably benign Het
Rnf121 T C 7: 101,673,313 (GRCm39) D206G probably benign Het
Rnf122 T A 8: 31,602,177 (GRCm39) M1K probably null Het
Shank2 T C 7: 143,733,518 (GRCm39) S22P probably damaging Het
Smg6 C T 11: 74,823,269 (GRCm39) R175* probably null Het
Speer3 C G 5: 13,846,394 (GRCm39) A238G possibly damaging Het
Thsd7a C T 6: 12,468,907 (GRCm39) C557Y probably damaging Het
Tiam2 A G 17: 3,464,242 (GRCm39) probably benign Het
Trgv4 T C 13: 19,369,567 (GRCm39) Y104H probably benign Het
Ttn C T 2: 76,594,345 (GRCm39) W18788* probably null Het
Vmn2r82 A T 10: 79,231,914 (GRCm39) I638F probably benign Het
Zswim6 A G 13: 107,863,229 (GRCm39) noncoding transcript 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
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'- CTCGTGAAGGTTGTGGAGAC -3'
(R):5'- ATTCCCTCTATCATGACTGAAGC -3'

Sequencing Primer
(F):5'- GAGACACAGGCATAGTGACTTCC -3'
(R):5'- ATCATGACTGAAGCTTCTTTCTCC -3'
Posted On 2015-07-06