Mutagenetix > Incidental Mutation

Incidental Mutation 'R2111:Amph'

232583

Institutional Source

Beutler Lab

Gene Symbol

Amph

Ensembl Gene

ENSMUSG00000021314

Gene Name

amphiphysin

Synonyms

MMRRC Submission

040115-MU

Accession Numbers

Essential gene?

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

Stock #

R2111 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

19132375-19335091 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 19300436 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000142766 (fasta)

Gene Model

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

AlphaFold

Q7TQF7

Predicted Effect

probably benign
Transcript: ENSMUST00000003345

SMART Domains

Protein: ENSMUSP00000003345
Gene: ENSMUSG00000021314

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: ENSMUST00000197545

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198668

Predicted Effect

probably benign
Transcript: ENSMUST00000200466

SMART Domains

Protein: ENSMUSP00000142766
Gene: ENSMUSG00000021314

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

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

100% (86/86)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330161L09Rik	T	C	12: 103,373,848 (GRCm39)		probably benign	Het
Abca2	A	T	2: 25,327,517 (GRCm39)	I669F	possibly damaging	Het
Adam9	C	T	8: 25,472,142 (GRCm39)		probably benign	Het
Adprhl1	A	G	8: 13,298,694 (GRCm39)	Y79H	probably damaging	Het
Akp3	A	T	1: 87,054,607 (GRCm39)		probably null	Het
Alpk2	T	C	18: 65,482,845 (GRCm39)	S388G	probably benign	Het
Arr3	T	A	X: 99,658,247 (GRCm39)	F269L	possibly damaging	Het
Atp2a2	A	G	5: 122,597,609 (GRCm39)	F808S	probably damaging	Het
Baz1a	T	A	12: 54,958,170 (GRCm39)	N1027I	probably damaging	Het
C2cd4c	G	T	10: 79,448,255 (GRCm39)	H297Q	probably damaging	Het
Calr3	T	A	8: 73,181,112 (GRCm39)	D160V	probably damaging	Het
Cdc42ep1	C	T	15: 78,731,692 (GRCm39)	R46C	probably damaging	Het
Cdh23	G	T	10: 60,141,362 (GRCm39)	F3127L	probably damaging	Het
Cfhr4	T	A	1: 139,702,417 (GRCm39)		probably benign	Het
Cps1	T	A	1: 67,216,139 (GRCm39)	D821E	probably benign	Het
Cyp2e1	C	A	7: 140,353,547 (GRCm39)	T328K	probably damaging	Het
Dcp1a	T	C	14: 30,241,327 (GRCm39)	V379A	probably benign	Het
Dst	T	C	1: 34,208,259 (GRCm39)	S737P	probably damaging	Het
Dtx2	C	T	5: 136,059,431 (GRCm39)	S493F	probably damaging	Het
Eci2	A	G	13: 35,174,699 (GRCm39)		probably null	Het
Ercc6l2	A	G	13: 63,982,563 (GRCm39)	T126A	probably damaging	Het
Fgf6	T	C	6: 126,992,723 (GRCm39)	S59P	probably damaging	Het
Fmnl2	A	G	2: 52,995,549 (GRCm39)	E424G	probably damaging	Het
Gapvd1	G	T	2: 34,574,329 (GRCm39)	A1256D	probably benign	Het
Gcfc2	C	A	6: 81,900,759 (GRCm39)	D24E	probably benign	Het
Gigyf2	A	G	1: 87,368,452 (GRCm39)	H1044R	probably damaging	Het
Gk2	T	C	5: 97,604,164 (GRCm39)	I225V	probably benign	Het
Gm3944	C	A	12: 18,903,895 (GRCm39)	S8*	probably null	Het
Gnl3l	A	G	X: 149,780,290 (GRCm39)	S217P	probably damaging	Het
Gpr156	A	G	16: 37,799,113 (GRCm39)	D109G	probably benign	Het
Hoxd1	A	T	2: 74,593,710 (GRCm39)	T89S	probably benign	Het
Ift172	G	A	5: 31,443,423 (GRCm39)	T112M	probably benign	Het
Igkv1-115	C	A	6: 68,138,613 (GRCm39)	S72*	probably null	Het
Ildr1	A	G	16: 36,542,341 (GRCm39)	E247G	probably damaging	Het
Insr	A	G	8: 3,219,748 (GRCm39)	S925P	probably benign	Het
Itpr1	T	G	6: 108,355,270 (GRCm39)		probably benign	Het
Khdrbs3	C	T	15: 68,896,673 (GRCm39)	T111I	probably benign	Het
Mageb3	A	G	2: 121,785,306 (GRCm39)		probably null	Het
Mcf2l	A	T	8: 13,051,867 (GRCm39)	K433N	probably damaging	Het
Mdn1	A	G	4: 32,700,409 (GRCm39)	E1456G	probably damaging	Het
Mta1	C	T	12: 113,095,248 (GRCm39)	T467I	probably damaging	Het
Mtr	A	T	13: 12,259,487 (GRCm39)	I196N	possibly damaging	Het
Mtus1	G	T	8: 41,475,608 (GRCm39)	P819T	probably damaging	Het
Myh1	G	A	11: 67,105,446 (GRCm39)	D1079N	possibly damaging	Het
Nav1	C	T	1: 135,376,742 (GRCm39)	R1694Q	probably damaging	Het
Neb	A	G	2: 52,174,275 (GRCm39)	I1528T	probably benign	Het
Nek1	T	A	8: 61,577,360 (GRCm39)		probably null	Het
Nes	A	G	3: 87,884,618 (GRCm39)	E915G	probably benign	Het
Nlrp4f	T	C	13: 65,347,167 (GRCm39)	I30M	probably benign	Het
Nup153	A	G	13: 46,837,404 (GRCm39)	S1273P	probably benign	Het
Nup155	A	G	15: 8,150,951 (GRCm39)	I334V	probably benign	Het
Or10j2	A	T	1: 173,097,879 (GRCm39)	M46L	probably benign	Het
Or1e1f	A	G	11: 73,855,740 (GRCm39)	Y102C	probably damaging	Het
Or5b3	G	A	19: 13,388,307 (GRCm39)	A125T	probably damaging	Het
Or5d41	A	G	2: 88,054,818 (GRCm39)	V186A	possibly damaging	Het
Or6d13	T	C	6: 116,517,611 (GRCm39)	Y66H	possibly damaging	Het
Or8b46	T	A	9: 38,450,576 (GRCm39)	N128K	probably benign	Het
Or8k38	G	T	2: 86,488,781 (GRCm39)	T7K	probably damaging	Het
Parn	G	A	16: 13,420,933 (GRCm39)	S473L	probably damaging	Het
Pcnt	T	C	10: 76,256,360 (GRCm39)	K627E	probably damaging	Het
Pja2	T	A	17: 64,597,031 (GRCm39)	D553V	probably damaging	Het
Prune2	T	C	19: 17,185,602 (GRCm39)	F3004L	probably damaging	Het
Rasgrp3	T	C	17: 75,807,753 (GRCm39)		probably null	Het
Rdh13	A	G	7: 4,448,482 (GRCm39)	V10A	probably benign	Het
Rimbp2	T	C	5: 128,850,565 (GRCm39)	Y906C	probably damaging	Het
Ripor1	T	C	8: 106,341,344 (GRCm39)	F59S	probably damaging	Het
Rnf185	T	C	11: 3,382,393 (GRCm39)		probably benign	Het
Runx3	T	C	4: 134,882,627 (GRCm39)	V107A	probably damaging	Het
Scn3b	T	C	9: 40,193,741 (GRCm39)	V156A	probably benign	Het
Serpina3a	G	A	12: 104,082,481 (GRCm39)	A85T	probably damaging	Het
Slc12a7	C	T	13: 73,933,274 (GRCm39)	R111*	probably null	Het
Slc5a5	A	T	8: 71,342,395 (GRCm39)		probably null	Het
Snx13	A	T	12: 35,188,084 (GRCm39)	L787F	probably damaging	Het
Spef2	A	T	15: 9,589,659 (GRCm39)	M1535K	probably damaging	Het
Sphkap	T	G	1: 83,253,602 (GRCm39)	K1382N	probably benign	Het
Tagap1	A	G	17: 7,224,259 (GRCm39)	S146P	probably benign	Het
Tagln3	A	G	16: 45,531,957 (GRCm39)	Y192H	probably damaging	Het
Tbc1d15	A	C	10: 115,076,819 (GRCm39)	S22A	possibly damaging	Het
Tbc1d31	A	G	15: 57,796,040 (GRCm39)	E211G	probably benign	Het
Tmod3	A	G	9: 75,416,645 (GRCm39)	V229A	probably damaging	Het
Ubr2	A	G	17: 47,274,071 (GRCm39)		probably null	Het
Ugt2b36	T	C	5: 87,240,100 (GRCm39)	E95G	probably benign	Het
Unc45b	G	A	11: 82,802,515 (GRCm39)	A4T	probably benign	Het
Usp40	A	G	1: 87,877,936 (GRCm39)	I1117T	probably benign	Het
Vcan	T	A	13: 89,841,422 (GRCm39)	D414V	probably damaging	Het
Xrn1	C	A	9: 95,921,885 (GRCm39)	H1433N	probably benign	Het
Zfp353-ps	T	A	8: 42,536,005 (GRCm39)		noncoding transcript	Het
Zfp74	G	A	7: 29,634,443 (GRCm39)	Q422*	probably null	Het
Zmym3	A	T	X: 100,450,993 (GRCm39)	V1208D	probably 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
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
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'- GCTCTCACAGTATCTTCATGTGG -3'
(R):5'- TAGTTCAGCAATGTGGGCCAC -3'

Sequencing Primer
(F):5'- AAGTTCTCAGTAGCCACGTG -3'
(R):5'- GTGGGCCACTCACACACATTTC -3'

Posted On

2014-09-18