Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02300:Amph'

290265

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Amph

Ensembl Gene

ENSMUSG00000021314

Gene Name

amphiphysin

Synonyms

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.278) question?

Stock #

IGL02300

Quality Score

Status

Chromosome

Chromosomal Location

19132375-19335091 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 19270774 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 128 (F128L)

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: F128L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000003345
Gene: ENSMUSG00000021314
AA Change: F128L

Domain	Start	End	E-Value	Type
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

probably damaging
Transcript: ENSMUST00000200466
AA Change: F128L

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000142766
Gene: ENSMUSG00000021314
AA Change: F128L

Domain	Start	End	E-Value	Type
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

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: 17 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ccdc65	G	A	15: 98,620,991 (GRCm39)		probably benign	Het
Cul9	T	C	17: 46,831,958 (GRCm39)		probably benign	Het
Efcab14	G	T	4: 115,616,093 (GRCm39)		probably null	Het
Frs2	A	T	10: 116,913,496 (GRCm39)	N111K	possibly damaging	Het
Herc1	T	C	9: 66,383,645 (GRCm39)	I3703T	probably benign	Het
Ktn1	T	A	14: 47,927,517 (GRCm39)	M557K	probably damaging	Het
Mib1	G	A	18: 10,741,016 (GRCm39)	C88Y	probably damaging	Het
Or5b121	A	G	19: 13,507,244 (GRCm39)	D113G	probably damaging	Het
Or8k3b	T	C	2: 86,520,996 (GRCm39)	I108V	probably benign	Het
Pclo	A	T	5: 14,763,755 (GRCm39)	Y4076F	unknown	Het
Pdcd11	T	C	19: 47,115,381 (GRCm39)	F1417L	probably benign	Het
Raph1	G	A	1: 60,565,106 (GRCm39)	T127M	possibly damaging	Het
Slc38a10	C	T	11: 120,001,116 (GRCm39)	G568E	probably benign	Het
Timeless	G	A	10: 128,080,676 (GRCm39)	S519N	probably benign	Het
U2surp	A	G	9: 95,370,823 (GRCm39)	V373A	probably damaging	Het
Vmn2r101	A	T	17: 19,832,199 (GRCm39)	I732F	probably damaging	Het
Zfp28	T	C	7: 6,392,495 (GRCm39)	S122P	probably benign	Het

Other mutations in Amph

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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

Posted On

2015-04-16