Mutagenetix > Incidental Mutation

Incidental Mutation 'R0610:Asic1'

54657

Institutional Source

Beutler Lab

Gene Symbol

Asic1

Ensembl Gene

ENSMUSG00000023017

Gene Name

acid-sensing ion channel 1

Synonyms

B530003N02Rik, ASIC1 beta, Accn2, ASIC1b, ASIC, ASIC1a, BNaC2, ASICalpha

MMRRC Submission

038799-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.180) question?

Stock #

R0610 (G1)

Quality Score

194

Status

Validated

Chromosome

Chromosomal Location

99568249-99599011 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 99596780 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 525 (H525Q)

Ref Sequence

ENSEMBL: ENSMUSP00000154379 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023758] [ENSMUST00000023759] [ENSMUST00000163472] [ENSMUST00000228185] [ENSMUST00000228984] [ENSMUST00000229845] [ENSMUST00000230530] [ENSMUST00000229236]

AlphaFold

Q6NXK8

Predicted Effect

probably benign
Transcript: ENSMUST00000023758
AA Change: H492Q

PolyPhen 2 Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000023758
Gene: ENSMUSG00000023017
AA Change: H492Q

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

noncoding transcript
Transcript: ENSMUST00000226291

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227670

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228012

Predicted Effect

probably benign
Transcript: ENSMUST00000228185
AA Change: H525Q

PolyPhen 2 Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)

Predicted Effect

probably benign
Transcript: ENSMUST00000228984

Predicted Effect

probably benign
Transcript: ENSMUST00000229845

Predicted Effect

probably benign
Transcript: ENSMUST00000230530

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229686

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229968

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228610

Predicted Effect

probably benign
Transcript: ENSMUST00000229236

Meta Mutation Damage Score

0.0876

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.4%
20x: 94.7%

Validation Efficiency

99% (97/98)

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	A	T	7: 40,642,480 (GRCm39)	T141S	probably benign	Het
4930578I06Rik	G	A	14: 64,223,714 (GRCm39)	R21*	probably null	Het
Abca15	A	G	7: 119,965,009 (GRCm39)	E757G	possibly damaging	Het
Abca5	T	C	11: 110,192,353 (GRCm39)	T720A	probably benign	Het
Actr5	T	A	2: 158,474,376 (GRCm39)		probably null	Het
Adgrl3	T	C	5: 81,841,563 (GRCm39)		probably benign	Het
Adra1a	A	G	14: 66,875,241 (GRCm39)	D72G	probably damaging	Het
Ahcyl	T	C	16: 45,974,264 (GRCm39)	E371G	probably damaging	Het
Ahnak	G	T	19: 8,985,242 (GRCm39)	L2175F	probably benign	Het
AK157302	A	G	13: 21,679,833 (GRCm39)	T120A	possibly damaging	Het
Apol7a	G	A	15: 77,273,454 (GRCm39)	A336V	probably benign	Het
Atxn7l2	T	C	3: 108,112,090 (GRCm39)	D335G	possibly damaging	Het
Bpgm	G	T	6: 34,481,284 (GRCm39)	R227L	possibly damaging	Het
Calm4	T	A	13: 3,888,320 (GRCm39)	V142E	possibly damaging	Het
Catsperg1	A	T	7: 28,890,044 (GRCm39)	L721Q	probably damaging	Het
Cdh26	A	G	2: 178,091,691 (GRCm39)	I83M	probably damaging	Het
Cep295	A	C	9: 15,234,050 (GRCm39)	S2249A	possibly damaging	Het
Cfhr4	G	A	1: 139,629,584 (GRCm39)	T799I	probably benign	Het
Cln3	A	G	7: 126,179,361 (GRCm39)	F139L	probably damaging	Het
Cmpk2	T	A	12: 26,528,055 (GRCm39)	L424Q	possibly damaging	Het
Col12a1	A	T	9: 79,615,130 (GRCm39)	V53E	probably benign	Het
Csmd1	G	A	8: 15,968,208 (GRCm39)	R3140C	possibly damaging	Het
Dagla	A	G	19: 10,248,922 (GRCm39)	W11R	probably damaging	Het
Dbx2	C	T	15: 95,522,778 (GRCm39)	V310M	probably benign	Het
Disp2	T	A	2: 118,622,717 (GRCm39)	C1150S	probably benign	Het
Dock3	T	C	9: 106,900,987 (GRCm39)	D326G	probably damaging	Het
Dph1	G	T	11: 75,076,783 (GRCm39)		probably benign	Het
Dyrk1b	C	A	7: 27,886,059 (GRCm39)	T594K	probably damaging	Het
Evx2	C	A	2: 74,486,331 (GRCm39)	A353S	probably benign	Het
Garin1b	T	A	6: 29,326,576 (GRCm39)	V231E	probably benign	Het
Greb1	A	C	12: 16,746,443 (GRCm39)	S1276A	probably benign	Het
Hhipl1	T	A	12: 108,285,661 (GRCm39)	C490*	probably null	Het
Hmmr	G	T	11: 40,606,729 (GRCm39)	T231K	probably damaging	Het
Hspa4l	A	C	3: 40,733,832 (GRCm39)	E526D	probably benign	Het
Ibsp	A	G	5: 104,458,000 (GRCm39)	E179G	probably benign	Het
Ift140	C	T	17: 25,254,777 (GRCm39)	A150V	probably benign	Het
Igf2bp2	A	G	16: 21,889,059 (GRCm39)	S416P	probably benign	Het
Ighe	T	C	12: 113,235,363 (GRCm39)	K294E	unknown	Het
Ino80	G	A	2: 119,213,441 (GRCm39)	R1249C	probably damaging	Het
Iqca1	C	A	1: 90,070,453 (GRCm39)	G133V	probably null	Het
Kng2	T	A	16: 22,819,344 (GRCm39)	N231Y	possibly damaging	Het
Lca5	A	T	9: 83,281,792 (GRCm39)	C331S	probably benign	Het
Lrrc1	A	G	9: 77,379,488 (GRCm39)	I101T	possibly damaging	Het
Lrrk2	A	T	15: 91,699,619 (GRCm39)	I2489L	probably benign	Het
Lyz3	A	G	10: 117,073,635 (GRCm39)	F66S	probably benign	Het
Mapk9	A	C	11: 49,754,400 (GRCm39)	N51T	probably benign	Het
Marf1	C	T	16: 13,960,398 (GRCm39)	A549T	probably damaging	Het
Nek2	T	A	1: 191,554,627 (GRCm39)	V113D	probably damaging	Het
Nr4a3	C	A	4: 48,051,903 (GRCm39)	A248E	probably benign	Het
Nrp1	T	C	8: 129,229,099 (GRCm39)	I859T	probably damaging	Het
Olfm5	A	T	7: 103,803,652 (GRCm39)	Y195*	probably null	Het
Or13j1	T	A	4: 43,706,400 (GRCm39)	H56L	possibly damaging	Het
Or1n2	T	A	2: 36,797,671 (GRCm39)	W238R	probably damaging	Het
Or8g35	A	G	9: 39,381,119 (GRCm39)	L301P	probably damaging	Het
Oxtr	C	T	6: 112,454,138 (GRCm39)	R42Q	probably benign	Het
Pcnx2	A	G	8: 126,566,426 (GRCm39)	W1006R	probably damaging	Het
Pdpk1	T	C	17: 24,317,145 (GRCm39)		probably null	Het
Ryr2	T	A	13: 11,637,838 (GRCm39)	H3731L	probably damaging	Het
Sdr16c5	T	G	4: 4,016,116 (GRCm39)	E103D	possibly damaging	Het
Setdb2	A	C	14: 59,654,919 (GRCm39)	S324A	possibly damaging	Het
Slc17a3	C	T	13: 24,039,841 (GRCm39)	S293F	probably damaging	Het
Slc17a8	A	T	10: 89,412,488 (GRCm39)	I499K	probably damaging	Het
Slc2a9	T	A	5: 38,537,285 (GRCm39)	I389F	probably damaging	Het
Slc30a1	T	C	1: 191,641,536 (GRCm39)	V394A	probably damaging	Het
Slc41a2	A	G	10: 83,119,592 (GRCm39)	I390T	possibly damaging	Het
Slco1a1	A	G	6: 141,864,187 (GRCm39)		probably null	Het
Slit2	A	G	5: 48,433,016 (GRCm39)	K1053E	possibly damaging	Het
Smarca2	T	A	19: 26,668,791 (GRCm39)	L930Q	probably damaging	Het
Snx6	T	C	12: 54,798,574 (GRCm39)	H387R	probably damaging	Het
Sox5	A	T	6: 143,779,165 (GRCm39)	M622K	possibly damaging	Het
Ston1	C	A	17: 88,942,709 (GRCm39)	N38K	possibly damaging	Het
Strbp	C	T	2: 37,474,089 (GRCm39)	V658I	probably damaging	Het
Strn3	T	C	12: 51,657,231 (GRCm39)		probably null	Het
Suco	T	G	1: 161,687,072 (GRCm39)	D96A	probably benign	Het
Suco	A	G	1: 161,691,601 (GRCm39)		probably benign	Het
Sytl2	A	T	7: 90,030,061 (GRCm39)		probably benign	Het
Tmem41b	T	A	7: 109,580,290 (GRCm39)	M25L	probably benign	Het
Tmem41b	T	A	7: 109,580,292 (GRCm39)	D91V	probably damaging	Het
Tmem50b	C	T	16: 91,380,174 (GRCm39)	A68T	probably damaging	Het
Tmprss11e	G	A	5: 86,855,206 (GRCm39)	Q400*	probably null	Het
Tnfsf13b	G	A	8: 10,081,661 (GRCm39)		probably null	Het
Trappc8	A	G	18: 20,970,245 (GRCm39)	V916A	probably damaging	Het
Trdn	G	T	10: 33,350,449 (GRCm39)	V673F	probably damaging	Het
Trim28	G	T	7: 12,759,711 (GRCm39)		probably benign	Het
Txnrd2	T	C	16: 18,291,632 (GRCm39)	V427A	probably damaging	Het
Uggt1	T	C	1: 36,204,587 (GRCm39)		probably benign	Het
Vmn1r36	A	G	6: 66,693,404 (GRCm39)	L51P	probably damaging	Het
Vmn1r63	T	A	7: 5,806,063 (GRCm39)	M190L	possibly damaging	Het
Vmn2r116	T	A	17: 23,606,286 (GRCm39)	N399K	probably damaging	Het
Vmn2r117	T	C	17: 23,694,488 (GRCm39)	N453S	probably benign	Het
Wbp1l	T	A	19: 46,643,109 (GRCm39)	I370N	probably damaging	Het
Zfp445	T	C	9: 122,682,046 (GRCm39)	K632E	probably benign	Het
Zfp850	C	T	7: 27,688,819 (GRCm39)	R463H	probably damaging	Het
Zyg11a	A	G	4: 108,062,054 (GRCm39)	L249P	probably damaging	Het

Other mutations in Asic1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01413:Asic1	APN	15	99,569,998 (GRCm39)	missense	probably damaging	0.99
IGL01418:Asic1	APN	15	99,569,998 (GRCm39)	missense	probably damaging	0.99
IGL01718:Asic1	APN	15	99,569,883 (GRCm39)	missense	probably damaging	1.00
IGL01941:Asic1	APN	15	99,596,982 (GRCm39)	missense	possibly damaging	0.95
IGL01993:Asic1	APN	15	99,595,353 (GRCm39)	missense	probably benign	0.01
IGL02097:Asic1	APN	15	99,592,567 (GRCm39)	splice site	probably benign
IGL03028:Asic1	APN	15	99,570,038 (GRCm39)	missense	probably benign	0.03
IGL03082:Asic1	APN	15	99,594,428 (GRCm39)	missense	probably benign
IGL03183:Asic1	APN	15	99,569,898 (GRCm39)	missense	probably benign	0.43
IGL03231:Asic1	APN	15	99,596,983 (GRCm39)	missense	probably benign	0.42
R0111:Asic1	UTSW	15	99,594,864 (GRCm39)	missense	probably damaging	1.00
R0243:Asic1	UTSW	15	99,596,498 (GRCm39)	unclassified	probably benign
R0316:Asic1	UTSW	15	99,569,819 (GRCm39)	missense	probably benign	0.03
R0518:Asic1	UTSW	15	99,596,700 (GRCm39)	missense	probably damaging	1.00
R0520:Asic1	UTSW	15	99,593,416 (GRCm39)	missense	probably damaging	1.00
R0521:Asic1	UTSW	15	99,596,700 (GRCm39)	missense	probably damaging	1.00
R1034:Asic1	UTSW	15	99,595,939 (GRCm39)	missense	probably damaging	1.00
R1666:Asic1	UTSW	15	99,597,006 (GRCm39)	missense	probably damaging	1.00
R1796:Asic1	UTSW	15	99,594,535 (GRCm39)	missense	probably null	0.99
R1993:Asic1	UTSW	15	99,569,765 (GRCm39)	missense	probably damaging	1.00
R2130:Asic1	UTSW	15	99,569,756 (GRCm39)	missense	possibly damaging	0.73
R2180:Asic1	UTSW	15	99,569,846 (GRCm39)	missense	probably benign
R2895:Asic1	UTSW	15	99,594,483 (GRCm39)	missense	probably benign	0.22
R3793:Asic1	UTSW	15	99,569,906 (GRCm39)	nonsense	probably null
R3848:Asic1	UTSW	15	99,570,814 (GRCm39)	missense	probably benign	0.01
R5115:Asic1	UTSW	15	99,569,933 (GRCm39)	missense	probably damaging	0.97
R5186:Asic1	UTSW	15	99,596,684 (GRCm39)	unclassified	probably benign
R5187:Asic1	UTSW	15	99,596,684 (GRCm39)	unclassified	probably benign
R5409:Asic1	UTSW	15	99,596,684 (GRCm39)	unclassified	probably benign
R6011:Asic1	UTSW	15	99,596,960 (GRCm39)	missense	probably benign	0.05
R6383:Asic1	UTSW	15	99,596,761 (GRCm39)	missense	probably damaging	0.96
R7133:Asic1	UTSW	15	99,569,968 (GRCm39)	missense	probably damaging	1.00
R7255:Asic1	UTSW	15	99,595,338 (GRCm39)	missense	probably damaging	0.97
R7587:Asic1	UTSW	15	99,593,471 (GRCm39)	missense	probably damaging	1.00
R8012:Asic1	UTSW	15	99,594,532 (GRCm39)	missense	possibly damaging	0.92
R8030:Asic1	UTSW	15	99,592,722 (GRCm39)	missense	possibly damaging	0.56
R8089:Asic1	UTSW	15	99,595,968 (GRCm39)	missense	probably damaging	1.00
R8919:Asic1	UTSW	15	99,569,826 (GRCm39)	missense	probably benign	0.40
R9417:Asic1	UTSW	15	99,590,405 (GRCm39)	missense	probably benign
R9534:Asic1	UTSW	15	99,594,397 (GRCm39)	missense	probably benign	0.01
R9646:Asic1	UTSW	15	99,593,414 (GRCm39)	missense	probably benign	0.17
R9717:Asic1	UTSW	15	99,590,657 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATTGTTCATCGGGGCCAGCATC -3'
(R):5'- GGTCAAGACTCCTTTCTCACCACAG -3'

Sequencing Primer
(F):5'- GGAACTCTTTGACTATGCCTATGAG -3'
(R):5'- ATGCAGTTTAAGTCCCCAGG -3'

Posted On

2013-07-11