Mutagenetix > Incidental Mutation

Incidental Mutation 'R4855:Amph'

373909

Institutional Source

Beutler Lab

Gene Symbol

Amph

Ensembl Gene

ENSMUSG00000021314

Gene Name

amphiphysin

Synonyms

MMRRC Submission

042466-MU

Accession Numbers

Essential gene?

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

Stock #

R4855 (G1)

Quality Score

224

Status

Validated

Chromosome

Chromosomal Location

19132375-19335091 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 19268378 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 70 (M70K)

Ref Sequence

ENSEMBL: ENSMUSP00000142766 (fasta)

Gene Model

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

AlphaFold

Q7TQF7

Predicted Effect

probably damaging
Transcript: ENSMUST00000003345
AA Change: M70K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000003345
Gene: ENSMUSG00000021314
AA Change: M70K

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: M70K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000142766
Gene: ENSMUSG00000021314
AA Change: M70K

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

0.8970

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.5%

Validation Efficiency

98% (93/95)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
Ablim2	C	T	5: 35,959,766 (GRCm39)	R73C	possibly damaging	Het
Adad1	G	T	3: 37,139,260 (GRCm39)	L443F	probably damaging	Het
Ankra2	T	A	13: 98,409,919 (GRCm39)	L306H	probably damaging	Het
Arc	A	C	15: 74,543,592 (GRCm39)	D210E	probably benign	Het
Arhgap10	A	G	8: 78,159,367 (GRCm39)		probably null	Het
Atp8b5	T	A	4: 43,344,449 (GRCm39)	N445K	probably benign	Het
C1qc	G	T	4: 136,617,746 (GRCm39)	Q117K	probably benign	Het
Cadps	T	A	14: 12,822,449 (GRCm38)	E97V	unknown	Het
Capn13	GCA	G	17: 73,658,501 (GRCm39)		probably null	Het
Cdk13	A	T	13: 17,895,868 (GRCm39)	W1014R	probably damaging	Het
Cltb	C	T	13: 54,746,908 (GRCm39)	E23K	probably damaging	Het
Clvs2	A	T	10: 33,498,642 (GRCm39)	I96N	probably damaging	Het
Cwf19l1	A	G	19: 44,103,006 (GRCm39)	V403A	probably damaging	Het
Ddr2	A	T	1: 169,816,066 (GRCm39)	L547Q	possibly damaging	Het
Ebf1	A	T	11: 44,863,735 (GRCm39)	K354*	probably null	Het
Fat4	A	G	3: 38,942,466 (GRCm39)	Q453R	probably benign	Het
Gas2l3	CACTCGTCATACT	CACT	10: 89,266,820 (GRCm39)		probably benign	Het
Gata6	A	G	18: 11,054,497 (GRCm39)	E142G	possibly damaging	Het
Gm14221	T	C	2: 160,416,600 (GRCm39)		noncoding transcript	Het
Gm42791	C	A	5: 148,896,247 (GRCm39)		probably benign	Het
Gm6370	G	T	5: 146,430,621 (GRCm39)	V269L	probably benign	Het
Gphn	G	A	12: 78,673,984 (GRCm39)	V526M	probably damaging	Het
Gpt	A	T	15: 76,583,485 (GRCm39)	E206V	probably damaging	Het
Grm3	G	A	5: 9,620,047 (GRCm39)	A399V	probably damaging	Het
Helq	A	T	5: 100,931,025 (GRCm39)	V575E	possibly damaging	Het
Herc4	A	G	10: 63,151,437 (GRCm39)		probably null	Het
Ifi207	A	T	1: 173,557,381 (GRCm39)	N452K	probably damaging	Het
Ikbke	A	G	1: 131,184,848 (GRCm39)		probably null	Het
Kbtbd2	A	G	6: 56,756,687 (GRCm39)	F350L	probably benign	Het
Kmt2c	A	G	5: 25,519,555 (GRCm39)	V2185A	probably benign	Het
Lgi2	T	C	5: 52,695,849 (GRCm39)	Q362R	probably damaging	Het
Lrit1	G	A	14: 36,783,773 (GRCm39)	G367E	possibly damaging	Het
Lrp1	G	A	10: 127,446,311 (GRCm39)	H78Y	probably benign	Het
Matk	A	G	10: 81,098,720 (GRCm39)		probably benign	Het
Med21	G	A	6: 146,549,690 (GRCm39)	G24S	probably damaging	Het
Met	G	T	6: 17,558,796 (GRCm39)	L1141F	probably damaging	Het
Mroh3	A	T	1: 136,128,677 (GRCm39)		probably null	Het
Mrpl15	T	C	1: 4,844,683 (GRCm39)	I203V	probably benign	Het
Naip1	T	C	13: 100,559,728 (GRCm39)		probably null	Het
Ndufa9	A	C	6: 126,804,505 (GRCm39)	Y298*	probably null	Het
Neb	T	C	2: 52,188,906 (GRCm39)	E808G	probably damaging	Het
Nol4l	C	T	2: 153,253,726 (GRCm39)	G616S	probably benign	Het
Oprm1	T	A	10: 6,788,468 (GRCm39)	C408S	probably benign	Het
Or2ag18	T	C	7: 106,405,463 (GRCm39)	M69V	probably benign	Het
Or4f14	A	G	2: 111,742,444 (GRCm39)	V277A	probably benign	Het
Or4k42	T	G	2: 111,320,293 (GRCm39)	D70A	probably damaging	Het
Or52e7	T	A	7: 104,684,858 (GRCm39)	I151N	probably damaging	Het
Or5ak20	T	C	2: 85,183,793 (GRCm39)	N159S	possibly damaging	Het
Paqr3	A	G	5: 97,256,053 (GRCm39)	I107T	possibly damaging	Het
Pex5l	G	A	3: 33,196,989 (GRCm39)		probably benign	Het
Phf8-ps	C	T	17: 33,285,713 (GRCm39)	S363N	probably benign	Het
Pik3ap1	T	C	19: 41,316,284 (GRCm39)	D326G	probably benign	Het
Plaa	G	T	4: 94,474,645 (GRCm39)	D252E	probably damaging	Het
Plxna2	G	A	1: 194,480,040 (GRCm39)	V1404I	probably benign	Het
Ppargc1a	G	A	5: 51,631,564 (GRCm39)	A355V	possibly damaging	Het
Primpol	A	G	8: 47,039,726 (GRCm39)	S350P	probably benign	Het
Prlr	T	C	15: 10,328,883 (GRCm39)	S453P	probably benign	Het
Psmd5	T	C	2: 34,742,564 (GRCm39)		probably benign	Het
Robo2	A	T	16: 73,768,079 (GRCm39)	V571E	probably damaging	Het
Sbspon	A	T	1: 15,929,264 (GRCm39)	S176T	possibly damaging	Het
Scyl2	G	A	10: 89,476,325 (GRCm39)		probably benign	Het
Sema3e	T	A	5: 14,280,144 (GRCm39)	V341E	probably damaging	Het
Serpinb3b	A	T	1: 107,082,270 (GRCm39)	F331L	possibly damaging	Het
Setd2	A	G	9: 110,401,022 (GRCm39)	H1736R	probably benign	Het
Sidt2	A	T	9: 45,863,327 (GRCm39)	D180E	probably benign	Het
Skint9	A	T	4: 112,248,208 (GRCm39)	Y179N	probably benign	Het
Slc27a5	T	C	7: 12,722,560 (GRCm39)	N638S	probably benign	Het
Slc6a4	T	A	11: 76,904,135 (GRCm39)	W197R	probably damaging	Het
Spag17	A	T	3: 99,970,649 (GRCm39)	M1278L	probably benign	Het
Sptbn1	T	A	11: 30,092,353 (GRCm39)	I471F	probably damaging	Het
Tasor2	A	T	13: 3,616,680 (GRCm39)		probably null	Het
Teddm1a	A	G	1: 153,768,382 (GRCm39)	Q282R	probably benign	Het
Tex35	A	G	1: 156,927,295 (GRCm39)	L160P	probably damaging	Het
Tfap2c	T	C	2: 172,393,438 (GRCm39)	Y118H	probably damaging	Het
Tpp1	T	C	7: 105,395,930 (GRCm39)	Q533R	probably benign	Het
Ttc13	C	T	8: 125,401,174 (GRCm39)	D730N	probably damaging	Het
Ufc1	A	G	1: 171,122,375 (GRCm39)		probably benign	Het
Vcpip1	A	G	1: 9,817,589 (GRCm39)	W265R	probably damaging	Het
Wdr11	C	G	7: 129,202,158 (GRCm39)		probably null	Het
Xirp2	A	G	2: 67,341,408 (GRCm39)	I1216M	possibly damaging	Het
Zswim2	A	G	2: 83,747,187 (GRCm39)		probably null	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
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
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'- TTAACGTTTCCTGAGACCCAGTG -3'
(R):5'- TTGCGATTCATGCTCTGAGG -3'

Sequencing Primer
(F):5'- GGTTTGCTGCCATCCTGTAAGTAAC -3'
(R):5'- ATTCATGCTCTGAGGTGGAGAAG -3'

Posted On

2016-03-01