Mutagenetix > Incidental Mutation

Incidental Mutation 'R1337:Amph'

156915

Institutional Source

Beutler Lab

Gene Symbol

Amph

Ensembl Gene

ENSMUSG00000021314

Gene Name

amphiphysin

Synonyms

MMRRC Submission

039402-MU

Accession Numbers

Essential gene?

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

Stock #

R1337 (G1)

Quality Score

225

Status

Not validated

Chromosome

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

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

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

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

0.2469

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.0%

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730522E02Rik	A	G	11: 25,719,033 (GRCm39)	S37P	unknown	Het
Abca12	T	C	1: 71,333,978 (GRCm39)	I1175V	probably benign	Het
Ager	G	T	17: 34,819,596 (GRCm39)		probably null	Het
Cacna1c	A	G	6: 118,604,416 (GRCm39)	I1278T	probably damaging	Het
Casp8ap2	T	C	4: 32,645,721 (GRCm39)	V1598A	possibly damaging	Het
Cdk12	T	C	11: 98,136,497 (GRCm39)		probably null	Het
Ces2g	A	T	8: 105,690,597 (GRCm39)	Y126F	possibly damaging	Het
Ehbp1l1	A	T	19: 5,768,258 (GRCm39)	M1015K	probably benign	Het
Engase	A	G	11: 118,373,400 (GRCm39)	T248A	possibly damaging	Het
Gsdma	C	T	11: 98,560,533 (GRCm39)	Q162*	probably null	Het
Hapln3	T	C	7: 78,767,824 (GRCm39)	E190G	probably benign	Het
Hdc	T	C	2: 126,458,196 (GRCm39)	Q42R	probably benign	Het
Larp1b	C	T	3: 40,987,837 (GRCm39)	P20S	probably damaging	Het
Macf1	T	G	4: 123,370,068 (GRCm39)	R1564S	probably benign	Het
Muc5b	A	G	7: 141,412,361 (GRCm39)	Y1769C	unknown	Het
Nup88	T	A	11: 70,835,716 (GRCm39)	Q576L	probably damaging	Het
Or51f1	T	C	7: 102,506,078 (GRCm39)	N137S	probably benign	Het
Or7g21	A	G	9: 19,033,099 (GRCm39)	I280V	probably benign	Het
Prune2	C	T	19: 17,096,971 (GRCm39)	S825L	possibly damaging	Het
Ryr3	C	A	2: 112,610,308 (GRCm39)	M2301I	possibly damaging	Het
Sdk2	A	C	11: 113,723,157 (GRCm39)	V1278G	possibly damaging	Het
Sertad3	T	C	7: 27,175,866 (GRCm39)	L100P	probably damaging	Het
Slco5a1	T	C	1: 13,009,366 (GRCm39)	T370A	probably benign	Het
Srrm1	A	G	4: 135,074,044 (GRCm39)		probably null	Het
Stk32a	A	G	18: 43,394,414 (GRCm39)	D121G	probably benign	Het
Ttc7	A	T	17: 87,597,724 (GRCm39)	R99W	probably damaging	Het
Xkr9	C	A	1: 13,771,348 (GRCm39)	S288Y	possibly damaging	Het
Zfp644	A	G	5: 106,785,420 (GRCm39)	S376P	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
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'- CCACTCCCACAAATGAATCTCTGCT -3'
(R):5'- CGGATGGAGTCCTGAATGTGCAA -3'

Sequencing Primer
(F):5'- ccttccttccttccttcctttc -3'
(R):5'- AATCACTTGTCCAGCTGACC -3'

Posted On

2014-02-11