Mutagenetix > Incidental Mutation

Incidental Mutation 'R0646:Amph'

57199

Institutional Source

Beutler Lab

Gene Symbol

Amph

Ensembl Gene

ENSMUSG00000021314

Gene Name

amphiphysin

Synonyms

MMRRC Submission

038831-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.284) question?

Stock #

R0646 (G1)

Quality Score

170

Status

Validated

Chromosome

Chromosomal Location

19132375-19335091 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 19297286 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 344 (E344V)

Ref Sequence

ENSEMBL: ENSMUSP00000142766 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003345] [ENSMUST00000200466]

AlphaFold

Q7TQF7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000003345
AA Change: E344V

PolyPhen 2 Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000003345
Gene: ENSMUSG00000021314
AA Change: E344V

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

possibly damaging
Transcript: ENSMUST00000200466
AA Change: E344V

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000142766
Gene: ENSMUSG00000021314
AA Change: E344V

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

Meta Mutation Damage Score

0.0726

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

95% (123/130)

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: 125 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432E11Rik	C	T	7: 29,260,710 (GRCm39)		noncoding transcript	Het
Abcb11	A	G	2: 69,115,627 (GRCm39)	I579T	probably damaging	Het
Abcc9	T	C	6: 142,627,830 (GRCm39)	N400S	probably benign	Het
Adarb2	T	C	13: 8,781,855 (GRCm39)	L577P	probably damaging	Het
Agt	A	C	8: 125,283,852 (GRCm39)	N422K	probably damaging	Het
Ahnak	A	T	19: 8,990,766 (GRCm39)	K4017*	probably null	Het
Akap13	C	A	7: 75,397,494 (GRCm39)	Q2575K	probably damaging	Het
Aldh3a2	A	T	11: 61,144,541 (GRCm39)	I339K	probably damaging	Het
Alox15	G	T	11: 70,236,450 (GRCm39)	Y483*	probably null	Het
Ampd1	A	T	3: 103,006,913 (GRCm39)	I713F	probably damaging	Het
Arhgef18	T	C	8: 3,436,959 (GRCm39)	Y250H	probably damaging	Het
Arid5b	A	G	10: 67,932,807 (GRCm39)	S1032P	probably damaging	Het
Armc8	C	A	9: 99,387,741 (GRCm39)	L393F	probably damaging	Het
Bpnt1	A	G	1: 185,077,623 (GRCm39)		probably null	Het
Cachd1	G	A	4: 100,845,418 (GRCm39)	R970H	probably damaging	Het
Cd207	T	C	6: 83,652,738 (GRCm39)	T131A	probably benign	Het
Cd83	G	A	13: 43,951,009 (GRCm39)	V54I	probably benign	Het
Cfap43	T	C	19: 47,752,115 (GRCm39)	K1086E	probably benign	Het
Cfap65	A	T	1: 74,941,328 (GRCm39)	V1837E	probably benign	Het
Clcnka	T	A	4: 141,123,917 (GRCm39)	H89L	probably benign	Het
Cnga4	T	C	7: 105,054,182 (GRCm39)	I50T	possibly damaging	Het
Cog5	A	G	12: 31,887,358 (GRCm39)		probably benign	Het
Col11a2	T	A	17: 34,278,322 (GRCm39)		probably null	Het
Col28a1	T	G	6: 8,175,291 (GRCm39)	I186L	possibly damaging	Het
Col4a2	T	A	8: 11,481,252 (GRCm39)	M808K	probably benign	Het
Copb2	A	G	9: 98,445,528 (GRCm39)		probably benign	Het
Dbnl	G	A	11: 5,745,441 (GRCm39)		probably benign	Het
Dbx2	T	C	15: 95,552,493 (GRCm39)	T51A	possibly damaging	Het
Dcp1a	A	T	14: 30,224,842 (GRCm39)	M123L	probably damaging	Het
Ddx42	T	A	11: 106,123,659 (GRCm39)	F217I	probably benign	Het
Dlc1	T	C	8: 37,325,205 (GRCm39)	T367A	probably benign	Het
Dmgdh	A	T	13: 93,888,863 (GRCm39)	T834S	probably benign	Het
Dnah8	T	C	17: 30,903,147 (GRCm39)	S929P	probably damaging	Het
Dnase1l2	C	A	17: 24,660,056 (GRCm39)	V271L	possibly damaging	Het
Dsc1	T	C	18: 20,229,114 (GRCm39)	Y392C	probably damaging	Het
Edn1	T	C	13: 42,458,718 (GRCm39)		probably benign	Het
Efcab3	G	A	11: 104,611,327 (GRCm39)	D390N	probably benign	Het
Eps8l3	T	C	3: 107,792,126 (GRCm39)	L351P	probably damaging	Het
F12	G	A	13: 55,570,296 (GRCm39)		probably benign	Het
Fam47e	T	C	5: 92,726,317 (GRCm39)		probably benign	Het
Fcrl5	C	A	3: 87,349,320 (GRCm39)	Q32K	probably benign	Het
Fndc1	C	T	17: 7,960,505 (GRCm39)	V1637I	possibly damaging	Het
Foxg1	G	T	12: 49,431,350 (GRCm39)		probably benign	Het
Frrs1	A	T	3: 116,696,070 (GRCm39)	I530F	possibly damaging	Het
Galnt5	A	T	2: 57,889,097 (GRCm39)	K232N	probably benign	Het
Ggt5	G	A	10: 75,438,482 (GRCm39)	V68M	probably damaging	Het
Gm16519	T	C	17: 71,236,101 (GRCm39)	C17R	probably benign	Het
Gm17535	A	G	9: 3,035,804 (GRCm39)	Y224C	probably null	Het
Gm9631	T	G	11: 121,836,455 (GRCm39)	D28A	probably damaging	Het
Gpx2	T	C	12: 76,842,087 (GRCm39)	I21M	probably benign	Het
H2-Q2	T	G	17: 35,564,661 (GRCm39)	D354E	probably damaging	Het
Icam2	A	T	11: 106,271,717 (GRCm39)	I71K	probably damaging	Het
Il12a	T	C	3: 68,605,223 (GRCm39)		probably benign	Het
Insm2	C	G	12: 55,647,225 (GRCm39)	A323G	probably benign	Het
Itga1	T	C	13: 115,104,835 (GRCm39)	T1064A	probably benign	Het
Itgad	T	A	7: 127,773,176 (GRCm39)	V11E	possibly damaging	Het
Kctd15	C	T	7: 34,344,306 (GRCm39)	S115N	probably damaging	Het
Klra5	A	G	6: 129,880,527 (GRCm39)	W124R	probably damaging	Het
Kng2	T	A	16: 22,806,486 (GRCm39)	D571V	probably benign	Het
Kpna6	A	T	4: 129,544,583 (GRCm39)	F380I	probably benign	Het
Lipo3	A	T	19: 33,762,169 (GRCm39)	Y109*	probably null	Het
Lrrc37	T	A	11: 103,503,986 (GRCm39)	K485*	probably null	Het
Man2a2	T	C	7: 80,012,945 (GRCm39)	H540R	possibly damaging	Het
Map2k4	T	C	11: 65,603,101 (GRCm39)	E188G	probably damaging	Het
Mast4	T	C	13: 102,895,252 (GRCm39)		probably benign	Het
Mbtd1	A	G	11: 93,796,038 (GRCm39)	D25G	probably damaging	Het
Med13	T	A	11: 86,221,915 (GRCm39)	Q238L	possibly damaging	Het
Mmachc	A	G	4: 116,560,851 (GRCm39)	Y215H	probably damaging	Het
Mtor	T	A	4: 148,568,811 (GRCm39)	Y1110*	probably null	Het
Nek2	A	G	1: 191,554,331 (GRCm39)	N57D	probably damaging	Het
Nek7	ACCCC	ACCC	1: 138,443,431 (GRCm39)		probably null	Het
Neo1	G	T	9: 58,838,317 (GRCm39)	T489K	probably damaging	Het
Neu1	T	A	17: 35,153,736 (GRCm39)	Y387N	probably damaging	Het
Nfasc	A	T	1: 132,536,176 (GRCm39)	C586*	probably null	Het
Nle1	G	A	11: 82,795,671 (GRCm39)	L259F	probably damaging	Het
Nrde2	G	A	12: 100,110,105 (GRCm39)	Q309*	probably null	Het
Nufip2	C	T	11: 77,577,279 (GRCm39)	H76Y	probably benign	Het
Or10ak16	A	C	4: 118,750,687 (GRCm39)	T136P	probably damaging	Het
Or2y13	A	T	11: 49,415,405 (GRCm39)	N285I	probably damaging	Het
Or4k6	A	T	14: 50,476,096 (GRCm39)	I82N	probably damaging	Het
Or52e18	A	T	7: 104,609,018 (GRCm39)	I307N	probably benign	Het
Or52r1c	T	C	7: 102,735,358 (GRCm39)	F206S	probably damaging	Het
Or9s18	A	T	13: 65,300,877 (GRCm39)	I280F	probably damaging	Het
Pcdhb5	A	G	18: 37,454,675 (GRCm39)	T352A	probably benign	Het
Pcdhb7	A	T	18: 37,476,442 (GRCm39)	D526V	probably damaging	Het
Phkg1	A	T	5: 129,893,394 (GRCm39)		probably null	Het
Plg	C	T	17: 12,637,623 (GRCm39)	T744M	probably damaging	Het
Plxnd1	A	C	6: 115,935,660 (GRCm39)		probably benign	Het
Poglut1	A	T	16: 38,349,837 (GRCm39)	I312N	probably damaging	Het
Ppp1r16a	C	T	15: 76,574,999 (GRCm39)		probably benign	Het
Ppt1	A	G	4: 122,737,892 (GRCm39)	M77V	probably benign	Het
Pramel26	A	C	4: 143,539,155 (GRCm39)	S113A	possibly damaging	Het
Pramel5	G	T	4: 143,998,190 (GRCm39)	T351N	probably damaging	Het
Psmb4	G	A	3: 94,792,275 (GRCm39)	R216C	probably benign	Het
Ptprd	T	C	4: 76,002,640 (GRCm39)	T699A	probably damaging	Het
Retreg3	A	T	11: 100,989,455 (GRCm39)		probably benign	Het
Sanbr	C	T	11: 23,525,491 (GRCm39)	R716H	probably damaging	Het
Scaper	G	A	9: 55,665,340 (GRCm39)	A389V	probably damaging	Het
Serinc5	G	A	13: 92,825,245 (GRCm39)	D225N	possibly damaging	Het
Slco1a1	T	G	6: 141,871,480 (GRCm39)		probably benign	Het
Snapc1	C	T	12: 74,021,806 (GRCm39)	R81C	probably damaging	Het
Sod3	A	T	5: 52,525,421 (GRCm39)	D40V	probably benign	Het
Sorcs3	C	A	19: 48,194,734 (GRCm39)	A39E	probably benign	Het
Spon1	A	T	7: 113,639,056 (GRCm39)	T761S	probably benign	Het
Syde2	A	G	3: 145,720,004 (GRCm39)		probably null	Het
Synm	T	A	7: 67,408,916 (GRCm39)	D154V	probably benign	Het
Synpo2	T	C	3: 122,908,098 (GRCm39)	E406G	probably damaging	Het
Tcea3	T	A	4: 135,975,382 (GRCm39)	L8*	probably null	Het
Tec	G	A	5: 72,980,840 (GRCm39)	L33F	probably damaging	Het
Tex15	T	A	8: 34,072,354 (GRCm39)	S2634T	possibly damaging	Het
Tg	T	A	15: 66,601,475 (GRCm39)	Y162N	probably damaging	Het
Tmem8b	G	A	4: 43,690,123 (GRCm39)	V853I	probably benign	Het
Togaram1	A	G	12: 65,068,240 (GRCm39)	K1748E	probably damaging	Het
Ttn	T	C	2: 76,728,822 (GRCm39)		probably benign	Het
Usp36	C	T	11: 118,163,847 (GRCm39)	D234N	probably damaging	Het
Usp40	G	A	1: 87,906,244 (GRCm39)	P664S	probably benign	Het
Vmn1r54	T	A	6: 90,246,635 (GRCm39)	L183H	probably benign	Het
Vmn1r58	T	G	7: 5,413,676 (GRCm39)	I185L	probably benign	Het
Wnt8a	A	T	18: 34,680,618 (GRCm39)	R328W	probably benign	Het
Yars1	A	G	4: 129,107,732 (GRCm39)		probably benign	Het
Zbtb49	A	C	5: 38,358,018 (GRCm39)	M745R	probably damaging	Het
Zeb1	T	G	18: 5,759,027 (GRCm39)	F162V	probably damaging	Het
Zfp369	A	T	13: 65,445,362 (GRCm39)	H835L	probably damaging	Het
Zic5	A	G	14: 122,701,351 (GRCm39)	V460A	unknown	Het
Zp3	A	G	5: 136,013,210 (GRCm39)	N181D	possibly damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- TCTAACCAAGTGTGTGGTCCAGGG -3'
(R):5'- GGGAAGCCATGAGGTGTGTTATCAG -3'

Sequencing Primer
(F):5'- TGTGGTCCAGGGACATGAG -3'
(R):5'- CCTACACTCTGAGAGCATGTGAG -3'

Posted On

2013-07-11