Mutagenetix > Incidental Mutation

Incidental Mutation 'R0498:Asic5'

40588

Institutional Source

Beutler Lab

Gene Symbol

Asic5

Ensembl Gene

ENSMUSG00000028008

Gene Name

acid-sensing ion channel family member 5

Synonyms

brain-liver-intestine amiloride-sensitive sodium channel, BLINaC, Accn5

MMRRC Submission

038694-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0498 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

81889600-81928540 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 81913778 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000103364 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029641] [ENSMUST00000107736]

AlphaFold

Q9R0Y1

Predicted Effect

probably benign
Transcript: ENSMUST00000029641

SMART Domains

Protein: ENSMUSP00000029641
Gene: ENSMUSG00000028008

Domain	Start	End	E-Value	Type
Pfam:ASC	41	466	3.5e-94	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107736

SMART Domains

Protein: ENSMUSP00000103364
Gene: ENSMUSG00000028008

Domain	Start	End	E-Value	Type
Pfam:ASC	1	425	5.5e-110	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 96.9%
20x: 94.4%

Validation Efficiency

100% (68/68)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the amiloride-sensitive Na+ channel and degenerin (NaC/DEG) family, members of which have been identified in many animal species ranging from the nematode to human. The amiloride-sensitive Na(+) channel encoded by this gene is primarily expressed in the small intestine, however, its exact function is not known. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	A	T	7: 40,642,718 (GRCm39)	D220V	probably benign	Het
Adgrf2	A	G	17: 43,025,206 (GRCm39)		probably benign	Het
Aldh18a1	A	G	19: 40,562,716 (GRCm39)	V219A	probably benign	Het
Anapc10	A	G	8: 80,501,610 (GRCm39)	D126G	probably benign	Het
Ap1m2	T	C	9: 21,207,129 (GRCm39)	*426W	probably null	Het
Arhgap21	A	G	2: 20,867,928 (GRCm39)	I865T	probably damaging	Het
Armc8	A	G	9: 99,379,345 (GRCm39)	V527A	probably damaging	Het
Baz2b	A	C	2: 59,732,340 (GRCm39)		probably benign	Het
Bpifa5	T	C	2: 154,009,169 (GRCm39)	V237A	probably damaging	Het
Brip1	T	A	11: 86,088,745 (GRCm39)	K52I	possibly damaging	Het
Cacna1g	T	C	11: 94,350,685 (GRCm39)	I387V	probably damaging	Het
Cbr4	A	G	8: 61,948,107 (GRCm39)	I135V	probably benign	Het
Ccdc66	C	T	14: 27,222,197 (GRCm39)		probably null	Het
Cubn	G	A	2: 13,449,078 (GRCm39)	T999M	probably damaging	Het
Dnai3	G	T	3: 145,787,119 (GRCm39)	D305E	possibly damaging	Het
Dpp8	C	T	9: 64,953,077 (GRCm39)		probably benign	Het
Dsg1b	T	C	18: 20,542,390 (GRCm39)	S966P	possibly damaging	Het
Erp27	T	C	6: 136,896,862 (GRCm39)		probably benign	Het
Fat4	A	T	3: 39,034,786 (GRCm39)	I2813L	probably benign	Het
Fhod1	G	A	8: 106,056,488 (GRCm39)	R1101C	probably damaging	Het
Hoxc9	T	C	15: 102,892,359 (GRCm39)	S191P	probably damaging	Het
Izumo4	T	C	10: 80,540,030 (GRCm39)		probably null	Het
Kalrn	C	T	16: 33,875,261 (GRCm39)	D104N	possibly damaging	Het
Kank4	A	T	4: 98,667,873 (GRCm39)	D191E	probably benign	Het
Kbtbd11	A	G	8: 15,077,605 (GRCm39)	E68G	probably benign	Het
Kdr	C	T	5: 76,119,798 (GRCm39)	V654I	probably benign	Het
Klra1	A	T	6: 130,349,782 (GRCm39)		probably null	Het
Kmt2e	T	A	5: 23,683,970 (GRCm39)	Y373*	probably null	Het
Lepr	A	T	4: 101,602,889 (GRCm39)	M226L	probably benign	Het
Lrp1b	T	A	2: 41,348,417 (GRCm39)	I800F	probably benign	Het
Lta4h	T	C	10: 93,307,833 (GRCm39)		probably benign	Het
Map3k7	T	C	4: 31,974,814 (GRCm39)		probably benign	Het
Map4k4	G	A	1: 40,029,338 (GRCm39)	R371Q	probably benign	Het
Mgat4f	A	G	1: 134,318,610 (GRCm39)	I461V	possibly damaging	Het
Mme	A	G	3: 63,253,487 (GRCm39)	I444V	probably damaging	Het
Mms19	C	T	19: 41,938,212 (GRCm39)	R582Q	possibly damaging	Het
Mtss1	A	G	15: 58,817,286 (GRCm39)	S502P	probably damaging	Het
Myo3a	G	T	2: 22,467,441 (GRCm39)	A232S	possibly damaging	Het
Nwd2	G	T	5: 63,963,686 (GRCm39)	W1090L	probably damaging	Het
Or4k15	A	C	14: 50,364,750 (GRCm39)	T239P	probably damaging	Het
Or8b12	G	A	9: 37,657,550 (GRCm39)	G40E	probably damaging	Het
Pcm1	G	A	8: 41,746,806 (GRCm39)	S1335N	probably benign	Het
Pdzph1	A	G	17: 59,280,825 (GRCm39)	F486L	probably benign	Het
Piezo2	T	C	18: 63,235,245 (GRCm39)	K552R	possibly damaging	Het
Plekhs1	T	A	19: 56,469,536 (GRCm39)		probably null	Het
Pprc1	C	T	19: 46,060,007 (GRCm39)	Q1514*	probably null	Het
Ralgapa1	T	C	12: 55,736,576 (GRCm39)	T1831A	possibly damaging	Het
Rnpep	G	T	1: 135,193,090 (GRCm39)	D455E	probably damaging	Het
Rpgrip1	T	A	14: 52,368,771 (GRCm39)		probably benign	Het
Saxo1	A	T	4: 86,397,133 (GRCm39)	M135K	possibly damaging	Het
Serpina12	T	C	12: 104,002,048 (GRCm39)	T223A	probably damaging	Het
Serpinb3a	A	G	1: 106,974,880 (GRCm39)	F218L	probably damaging	Het
Serpinb9f	T	G	13: 33,509,990 (GRCm39)		probably benign	Het
Spata33	A	G	8: 123,948,662 (GRCm39)	D98G	probably benign	Het
Stard13	T	A	5: 150,975,942 (GRCm39)	Y742F	probably damaging	Het
Tecta	A	G	9: 42,288,910 (GRCm39)	Y552H	probably damaging	Het
Tie1	A	T	4: 118,336,358 (GRCm39)		probably benign	Het
Tmem161a	A	G	8: 70,633,623 (GRCm39)	T254A	probably benign	Het
Tmem30a	G	T	9: 79,681,376 (GRCm39)	Y264*	probably null	Het
Tmem87a	A	T	2: 120,224,946 (GRCm39)	I105K	probably benign	Het
Tnrc6b	A	T	15: 80,742,920 (GRCm39)	D51V	probably damaging	Het
Trgc3	T	A	13: 19,445,262 (GRCm39)	M70K	probably damaging	Het
Trpc4	T	C	3: 54,198,632 (GRCm39)	F519L	probably damaging	Het
Ttn	T	C	2: 76,539,925 (GRCm39)	T26027A	probably damaging	Het
Vmn1r198	A	C	13: 22,539,144 (GRCm39)	H121P	probably damaging	Het
Vps33a	A	G	5: 123,709,024 (GRCm39)	F64L	probably benign	Het
Zfp1008	T	C	13: 62,755,201 (GRCm39)	N39S	probably damaging	Het
Zfp994	A	T	17: 22,419,882 (GRCm39)	C356S	probably damaging	Het

Other mutations in Asic5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00977:Asic5	APN	3	81,911,953 (GRCm39)	missense	possibly damaging	0.48
IGL01155:Asic5	APN	3	81,915,895 (GRCm39)	missense	probably benign	0.02
IGL01908:Asic5	APN	3	81,913,877 (GRCm39)	nonsense	probably null
IGL03049:Asic5	APN	3	81,904,256 (GRCm39)	unclassified	probably benign
IGL03078:Asic5	APN	3	81,921,735 (GRCm39)	missense	possibly damaging	0.65
R0517:Asic5	UTSW	3	81,916,833 (GRCm39)	missense	probably benign	0.01
R0668:Asic5	UTSW	3	81,928,308 (GRCm39)	missense	probably damaging	1.00
R0960:Asic5	UTSW	3	81,913,847 (GRCm39)	missense	probably benign	0.04
R0973:Asic5	UTSW	3	81,915,755 (GRCm39)	splice site	probably benign
R1061:Asic5	UTSW	3	81,928,308 (GRCm39)	missense	probably damaging	1.00
R1106:Asic5	UTSW	3	81,911,897 (GRCm39)	missense	probably damaging	1.00
R1703:Asic5	UTSW	3	81,907,029 (GRCm39)	missense	possibly damaging	0.75
R1864:Asic5	UTSW	3	81,919,294 (GRCm39)	missense	probably benign	0.00
R1892:Asic5	UTSW	3	81,928,293 (GRCm39)	missense	probably damaging	1.00
R4629:Asic5	UTSW	3	81,913,811 (GRCm39)	missense	probably damaging	1.00
R4736:Asic5	UTSW	3	81,907,116 (GRCm39)	missense	possibly damaging	0.56
R5254:Asic5	UTSW	3	81,928,294 (GRCm39)	missense	probably damaging	1.00
R5284:Asic5	UTSW	3	81,915,830 (GRCm39)	missense	probably damaging	1.00
R5573:Asic5	UTSW	3	81,911,791 (GRCm39)	missense	probably benign	0.10
R6163:Asic5	UTSW	3	81,913,833 (GRCm39)	missense	probably damaging	1.00
R6359:Asic5	UTSW	3	81,911,803 (GRCm39)	missense	possibly damaging	0.87
R6553:Asic5	UTSW	3	81,916,773 (GRCm39)	missense	possibly damaging	0.57
R6623:Asic5	UTSW	3	81,915,892 (GRCm39)	missense	probably damaging	1.00
R7084:Asic5	UTSW	3	81,919,318 (GRCm39)	missense	probably benign	0.00
R7168:Asic5	UTSW	3	81,919,282 (GRCm39)	missense	probably damaging	1.00
R7296:Asic5	UTSW	3	81,928,383 (GRCm39)	missense	probably benign	0.03
R7304:Asic5	UTSW	3	81,916,872 (GRCm39)	missense	possibly damaging	0.88
R7885:Asic5	UTSW	3	81,913,812 (GRCm39)	missense	probably benign	0.09
R8941:Asic5	UTSW	3	81,913,915 (GRCm39)	splice site	probably benign
R9391:Asic5	UTSW	3	81,928,366 (GRCm39)	missense	probably benign
R9542:Asic5	UTSW	3	81,911,850 (GRCm39)	missense	probably benign	0.32

Predicted Primers

PCR Primer
(F):5'- TGGAAGCCACTCATCAAAGGCTAAC -3'
(R):5'- AGTAAATGTGGAAACCTGTGCCCTC -3'

Sequencing Primer
(F):5'- AGGCTAACAACATGGTTTTTTGTG -3'
(R):5'- GAAACCTGTGCCCTCTTTCG -3'

Posted On

2013-05-23