Mutagenetix > Incidental Mutation

Incidental Mutation 'R7255:Asic1'

564226

Institutional Source

Beutler Lab

Gene Symbol

Asic1

Ensembl Gene

ENSMUSG00000023017

Gene Name

acid-sensing (proton-gated) ion channel 1

Synonyms

ASIC1a, ASICalpha, B530003N02Rik, ASIC, Accn2, BNaC2, ASIC1 beta

MMRRC Submission

045316-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.167) question?

Stock #

R7255 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

99670368-99701130 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 99697457 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 355 (D355G)

Ref Sequence

ENSEMBL: ENSMUSP00000023758 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023758] [ENSMUST00000023759] [ENSMUST00000163472] [ENSMUST00000228185] [ENSMUST00000229236]

AlphaFold

Q6NXK8

Predicted Effect

probably damaging
Transcript: ENSMUST00000023758
AA Change: D355G

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000023758
Gene: ENSMUSG00000023017
AA Change: D355G

Domain	Start	End	E-Value	Type
Pfam:ASC	21	454	9.9e-95	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000023759

SMART Domains

Protein: ENSMUSP00000023759
Gene: ENSMUSG00000023018

Domain	Start	End	E-Value	Type
low complexity region	9	38	N/A	INTRINSIC
low complexity region	103	117	N/A	INTRINSIC
Blast:KISc	124	271	2e-43	BLAST
SWIB	291	370	1.97e-35	SMART
Blast:MYSc	452	498	2e-17	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000163472

SMART Domains

Protein: ENSMUSP00000128823
Gene: ENSMUSG00000091604

Domain	Start	End	E-Value	Type
low complexity region	18	42	N/A	INTRINSIC
low complexity region	44	78	N/A	INTRINSIC
low complexity region	85	93	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000228185
AA Change: D388G

PolyPhen 2 Score 0.423 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

probably benign
Transcript: ENSMUST00000229236

Meta Mutation Damage Score

0.1596

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

97% (66/68)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the acid-sensing ion channel (ASIC) family of proteins, which are part of the degenerin/epithelial sodium channel (DEG/ENaC) superfamily. Members of the ASIC family are sensitive to amiloride and function in neurotransmission. The encoded proteins function in learning, pain transduction, touch sensation, and development of memory and fear. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2012]
PHENOTYPE: Homozygous mutation of this gene results in absence of H⁺-gated currents in hippocampal neurons, impaired long term potentiation, reduced excitatory postsynaptic potentials, and defective spatial learning and eye blink conditioning. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	G	A	11: 23,620,465	P145L	probably benign	Het
9530003J23Rik	T	C	10: 117,234,422	H150R	probably benign	Het
Aldh1a7	A	G	19: 20,714,728	S234P	probably damaging	Het
Arhgap28	T	C	17: 67,853,004	H650R	probably damaging	Het
Atp8b1	T	A	18: 64,556,868	S598C	probably damaging	Het
Bcat1	C	A	6: 145,032,785	E237*	probably null	Het
Btbd16	A	T	7: 130,785,992	I114F	probably benign	Het
Casp2	A	G	6: 42,268,907	D166G	probably damaging	Het
Cd86	CA	CAA	16: 36,606,555		probably null	Het
Cpsf1	G	A	15: 76,597,543	T1099M	probably damaging	Het
Crisp4	C	A	1: 18,130,231	A116S	probably damaging	Het
Cyb5r3	A	G	15: 83,160,165	I168T	probably damaging	Het
Dip2b	G	A	15: 100,209,627	D1407N	probably benign	Het
Dnajc8	A	G	4: 132,551,573	K201R	probably benign	Het
Dock10	C	T	1: 80,543,099		probably null	Het
Dopey2	C	A	16: 93,770,146	H1272N	probably damaging	Het
Dsc1	C	T	18: 20,097,273	R325Q	probably benign	Het
Enpp1	A	T	10: 24,645,315	I838K	possibly damaging	Het
Fcna	T	G	2: 25,626,028	D159A	probably damaging	Het
Flnc	G	T	6: 29,445,766	G840C	probably damaging	Het
Flt1	C	T	5: 147,580,406	A1024T	probably damaging	Het
Galc	T	C	12: 98,246,255	K207R	probably null	Het
Gbp2b	T	A	3: 142,608,117	L386Q	probably damaging	Het
Gm8297	T	A	14: 4,984,874	N48K	probably damaging	Het
Gm9639	G	A	10: 77,794,538	P180L	unknown	Het
Inpp5a	A	G	7: 139,511,448	N116S	probably damaging	Het
Ipo9	T	C	1: 135,385,988	E984G	probably benign	Het
Klra4	A	G	6: 130,059,642	F145L	probably damaging	Het
Lag3	A	G	6: 124,910,235	L123P	probably benign	Het
Med7	T	A	11: 46,440,995	M139K	probably damaging	Het
Mfsd2a	A	C	4: 122,952,021	L153R	possibly damaging	Het
Mup9	A	G	4: 60,421,337	V71A	probably benign	Het
Myo16	A	T	8: 10,499,169	Q927L	unknown	Het
Myo9b	T	C	8: 71,290,891	Y199H	probably damaging	Het
Nefm	A	G	14: 68,116,000	F406L	probably benign	Het
Olfr1123	T	A	2: 87,418,942	L296Q	probably damaging	Het
Olfr1333	A	T	4: 118,829,952	F162I	probably benign	Het
Pamr1	T	C	2: 102,611,584	F173L	probably damaging	Het
Pds5b	T	A	5: 150,796,667	D1205E	probably benign	Het
Plxna2	T	G	1: 194,752,103	F646V	probably benign	Het
Pnrc1	C	T	4: 33,248,045	G118D	probably benign	Het
Ppp1r16b	T	C	2: 158,761,391	F412S	probably benign	Het
Prcc	A	T	3: 87,870,091	V192E	probably damaging	Het
Psg19	A	G	7: 18,794,048	Y257H	probably benign	Het
Rfx7	T	G	9: 72,619,828	S1433R	possibly damaging	Het
Rgl2	T	C	17: 33,934,990	F457L	possibly damaging	Het
Sbspon	G	T	1: 15,883,797	C86*	probably null	Het
Sdhb	A	G	4: 140,977,418	E230G	possibly damaging	Het
Sema6b	T	C	17: 56,125,336	T581A	probably benign	Het
Shkbp1	G	T	7: 27,342,748	T594K	possibly damaging	Het
Shpk	A	G	11: 73,199,660	S48G	probably benign	Het
Slc1a3	A	G	15: 8,642,999	V332A	possibly damaging	Het
Slc25a25	T	C	2: 32,421,372	E135G	possibly damaging	Het
Slc5a8	A	T	10: 88,909,631	D367V	probably damaging	Het
Slco1c1	A	G	6: 141,569,325	T649A	probably benign	Het
Sorbs1	G	C	19: 40,376,800	R180G	probably benign	Het
Spats1	T	A	17: 45,454,205	D163V	probably damaging	Het
Ssh2	T	A	11: 77,425,593	M304K	probably damaging	Het
Sulf1	T	A	1: 12,859,008	D166E	probably benign	Het
Syne1	A	G	10: 5,333,446	S1540P	probably damaging	Het
Tcf7l1	A	T	6: 72,627,347		probably null	Het
Tet1	A	T	10: 62,822,636	M1477K	probably benign	Het
Tlr5	T	C	1: 182,974,316	F395S	probably damaging	Het
Trrap	T	C	5: 144,858,954	L3847P	probably damaging	Het
Tsks	C	T	7: 44,952,688	S276L	probably benign	Het
Uggt1	T	C	1: 36,146,106	E1519G	probably damaging	Het
Vps13a	A	G	19: 16,654,339		probably null	Het
Wdfy4	A	G	14: 32,974,282	V2768A		Het
Wdr26	A	C	1: 181,181,324	I627R	probably benign	Het
Zfp160	T	A	17: 21,025,487	S100T	probably benign	Het

Other mutations in Asic1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01413:Asic1	APN	15	99672117	missense	probably damaging	0.99
IGL01418:Asic1	APN	15	99672117	missense	probably damaging	0.99
IGL01718:Asic1	APN	15	99672002	missense	probably damaging	1.00
IGL01941:Asic1	APN	15	99699101	missense	possibly damaging	0.95
IGL01993:Asic1	APN	15	99697472	missense	probably benign	0.01
IGL02097:Asic1	APN	15	99694686	splice site	probably benign
IGL03028:Asic1	APN	15	99672157	missense	probably benign	0.03
IGL03082:Asic1	APN	15	99696547	missense	probably benign
IGL03183:Asic1	APN	15	99672017	missense	probably benign	0.43
IGL03231:Asic1	APN	15	99699102	missense	probably benign	0.42
R0111:Asic1	UTSW	15	99696983	missense	probably damaging	1.00
R0243:Asic1	UTSW	15	99698617	unclassified	probably benign
R0316:Asic1	UTSW	15	99671938	missense	probably benign	0.03
R0518:Asic1	UTSW	15	99698819	missense	probably damaging	1.00
R0520:Asic1	UTSW	15	99695535	missense	probably damaging	1.00
R0521:Asic1	UTSW	15	99698819	missense	probably damaging	1.00
R0610:Asic1	UTSW	15	99698899	missense	probably benign	0.14
R1034:Asic1	UTSW	15	99698058	missense	probably damaging	1.00
R1666:Asic1	UTSW	15	99699125	missense	probably damaging	1.00
R1796:Asic1	UTSW	15	99696654	missense	probably null	0.99
R1993:Asic1	UTSW	15	99671884	missense	probably damaging	1.00
R2130:Asic1	UTSW	15	99671875	missense	possibly damaging	0.73
R2180:Asic1	UTSW	15	99671965	missense	probably benign
R2895:Asic1	UTSW	15	99696602	missense	probably benign	0.22
R3793:Asic1	UTSW	15	99672025	nonsense	probably null
R3848:Asic1	UTSW	15	99672933	missense	probably benign	0.01
R5115:Asic1	UTSW	15	99672052	missense	probably damaging	0.97
R5186:Asic1	UTSW	15	99698803	unclassified	probably benign
R5187:Asic1	UTSW	15	99698803	unclassified	probably benign
R5409:Asic1	UTSW	15	99698803	unclassified	probably benign
R6011:Asic1	UTSW	15	99699079	missense	probably benign	0.05
R6383:Asic1	UTSW	15	99698880	missense	probably damaging	0.96
R7133:Asic1	UTSW	15	99672087	missense	probably damaging	1.00
R7587:Asic1	UTSW	15	99695590	missense	probably damaging	1.00
R8012:Asic1	UTSW	15	99696651	missense	possibly damaging	0.92
R8030:Asic1	UTSW	15	99694841	missense	possibly damaging	0.56
R8089:Asic1	UTSW	15	99698087	missense	probably damaging	1.00
R8919:Asic1	UTSW	15	99671945	missense	probably benign	0.40
R9417:Asic1	UTSW	15	99692524	missense	probably benign
R9534:Asic1	UTSW	15	99696516	missense	probably benign	0.01
R9646:Asic1	UTSW	15	99695533	missense	probably benign	0.17
R9717:Asic1	UTSW	15	99692776	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGATGGTTGGTCCTTTAGAACC -3'
(R):5'- TCCTCTGCAGTCCTTGTACAAG -3'

Sequencing Primer
(F):5'- GGTCCTTTAGAACCCAGGTTAAATAC -3'
(R):5'- CTTGTACAAGGGCCCTGC -3'

Posted On

2019-06-26