Incidental Mutation 'R1397:Amph'
ID 160195
Institutional Source Beutler Lab
Gene Symbol Amph
Ensembl Gene ENSMUSG00000021314
Gene Name amphiphysin
Synonyms
MMRRC Submission 039459-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.284) question?
Stock # R1397 (G1)
Quality Score 225
Status 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: 98.8%
  • 3x: 97.8%
  • 10x: 94.6%
  • 20x: 87.0%
Validation Efficiency 98% (59/60)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 T C 17: 24,504,733 (GRCm39) E1222G probably benign Het
Ankmy2 T C 12: 36,220,440 (GRCm39) probably benign Het
Arhgef10l C T 4: 140,271,754 (GRCm39) G827D probably damaging Het
Chrac1 A G 15: 72,962,293 (GRCm39) D3G possibly damaging Het
Dmrtb1 G C 4: 107,534,236 (GRCm39) P349R probably damaging Het
Drd1 A G 13: 54,207,573 (GRCm39) Y207H probably damaging Het
Dync1h1 G A 12: 110,602,943 (GRCm39) E2195K probably benign Het
Epb41l3 T A 17: 69,569,343 (GRCm39) probably null Het
Fam13b C T 18: 34,578,636 (GRCm39) M705I probably benign Het
Gtf3c3 C T 1: 54,456,937 (GRCm39) A488T probably damaging Het
Iqgap2 A G 13: 95,768,673 (GRCm39) I1409T probably benign Het
Itih1 C T 14: 30,651,862 (GRCm39) probably benign Het
Itih5 A T 2: 10,245,618 (GRCm39) D569V probably benign Het
Krt9 A T 11: 100,083,464 (GRCm39) L189Q probably damaging Het
Mfsd11 T C 11: 116,764,123 (GRCm39) F368S probably damaging Het
Neb C A 2: 52,133,955 (GRCm39) V3343F probably damaging Het
Nfe2l3 T C 6: 51,410,274 (GRCm39) S130P probably benign Het
Nid1 G A 13: 13,683,380 (GRCm39) A1153T possibly damaging Het
Nr2c2 T C 6: 92,126,745 (GRCm39) I78T probably benign Het
Nrp1 T G 8: 129,145,197 (GRCm39) Y84* probably null Het
Pate2 T A 9: 35,580,991 (GRCm39) F2I probably damaging Het
Pign A G 1: 105,585,496 (GRCm39) S18P probably damaging Het
Pla2r1 T A 2: 60,365,106 (GRCm39) T155S probably benign Het
Rabl3 C T 16: 37,360,336 (GRCm39) probably benign Het
Rhbg C T 3: 88,155,753 (GRCm39) V66I probably benign Het
Rimkla C T 4: 119,325,308 (GRCm39) G367E probably benign Het
Rnpepl1 C A 1: 92,844,881 (GRCm39) T391N probably damaging Het
Rnps1 C T 17: 24,631,031 (GRCm39) probably benign Het
Rrs1 G A 1: 9,615,992 (GRCm39) E82K probably damaging Het
Slc25a48 A C 13: 56,612,864 (GRCm39) D254A probably damaging Het
Slc28a2 T A 2: 122,291,012 (GRCm39) C659* probably null Het
Sned1 G A 1: 93,209,376 (GRCm39) V830M possibly damaging Het
Spata31d1a C T 13: 59,852,853 (GRCm39) probably benign Het
Srrm1 A C 4: 135,048,742 (GRCm39) probably benign Het
Srrt A G 5: 137,298,523 (GRCm39) V247A possibly damaging Het
Tnks2 T C 19: 36,857,901 (GRCm39) probably benign Het
Trim33 A G 3: 103,217,750 (GRCm39) probably benign Het
Trim42 T A 9: 97,247,674 (GRCm39) I341F probably damaging Het
Trim55 T C 3: 19,698,801 (GRCm39) F10S probably benign Het
Trpm1 T C 7: 63,867,406 (GRCm39) W369R probably damaging Het
Vps13d C T 4: 144,867,904 (GRCm39) R1976H 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
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
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 2014-03-14