Mutagenetix > Incidental Mutation

Incidental Mutation 'R7168:Asic5'

558041

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

045263-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7168 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

81889600-81928540 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 81919282 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 342 (C342Y)

Ref Sequence

ENSEMBL: ENSMUSP00000029641 (fasta)

Gene Model

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

AlphaFold

Q9R0Y1

Predicted Effect

probably damaging
Transcript: ENSMUST00000029641
AA Change: C342Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000029641
Gene: ENSMUSG00000028008
AA Change: C342Y

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000107736
AA Change: C300Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000103364
Gene: ENSMUSG00000028008
AA Change: C300Y

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (66/66)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	A	T	12: 71,262,831 (GRCm39)	D1388V	probably damaging	Het
2900026A02Rik	C	A	5: 113,285,659 (GRCm39)	R65L	probably damaging	Het
Abcb10	A	T	8: 124,693,350 (GRCm39)	L318Q		Het
Abhd18	T	A	3: 40,889,371 (GRCm39)	V417D	probably damaging	Het
Actl7a	A	G	4: 56,743,769 (GRCm39)	K99E	probably benign	Het
Adam2	A	T	14: 66,296,241 (GRCm39)	I206N	possibly damaging	Het
Adgrv1	G	T	13: 81,545,328 (GRCm39)	S5652R	possibly damaging	Het
Aebp2	C	T	6: 140,579,426 (GRCm39)	T221M	probably damaging	Het
Ahi1	T	A	10: 20,893,831 (GRCm39)	M854K	probably benign	Het
Alpi	T	A	1: 87,027,155 (GRCm39)	T375S	possibly damaging	Het
Apip	T	A	2: 102,922,813 (GRCm39)	C210*	probably null	Het
Arid3b	A	T	9: 57,712,818 (GRCm39)	D232E	probably benign	Het
BC035947	T	C	1: 78,476,230 (GRCm39)	M101V	probably benign	Het
Brd3	G	A	2: 27,344,411 (GRCm39)	R440C	possibly damaging	Het
Deaf1	C	T	7: 140,904,509 (GRCm39)		probably benign	Het
Eif2ak3	A	G	6: 70,858,610 (GRCm39)	T300A	probably benign	Het
Eml6	T	A	11: 29,788,529 (GRCm39)	I519F	probably benign	Het
Fat4	T	C	3: 39,034,808 (GRCm39)	F2820S	probably damaging	Het
Fcho2	A	G	13: 98,925,971 (GRCm39)	I132T	probably benign	Het
Garnl3	A	G	2: 32,885,090 (GRCm39)	V810A	probably damaging	Het
Gm14403	A	C	2: 177,201,318 (GRCm39)	Q179P	probably damaging	Het
Gm3127	A	G	14: 15,432,250 (GRCm39)	M251V	probably benign	Het
Hook3	A	G	8: 26,561,114 (GRCm39)	S298P	probably benign	Het
Impact	T	A	18: 13,119,370 (GRCm39)		probably null	Het
Itgal	T	C	7: 126,929,385 (GRCm39)	F1101L	probably benign	Het
Itih1	C	T	14: 30,656,064 (GRCm39)	R579Q	probably null	Het
Kansl2	T	C	15: 98,427,425 (GRCm39)		probably null	Het
Kng1	A	G	16: 22,898,391 (GRCm39)	D597G	probably benign	Het
Kpna1	A	G	16: 35,836,332 (GRCm39)		probably benign	Het
Lama2	C	T	10: 27,242,148 (GRCm39)		probably null	Het
Ltbp1	G	T	17: 75,598,361 (GRCm39)	C614F	probably damaging	Het
Luc7l3	T	C	11: 94,190,810 (GRCm39)	E168G	unknown	Het
Lvrn	A	C	18: 47,014,389 (GRCm39)	K525T	probably benign	Het
Mdn1	G	A	4: 32,719,184 (GRCm39)	R2249H	probably damaging	Het
Mmp16	G	T	4: 18,110,550 (GRCm39)	G449C	probably damaging	Het
Mst1r	T	C	9: 107,785,392 (GRCm39)	V350A	probably benign	Het
Muc5b	A	G	7: 141,417,754 (GRCm39)	M3567V	probably benign	Het
Mybl1	A	T	1: 9,748,513 (GRCm39)	L361Q	probably damaging	Het
Myom1	T	A	17: 71,396,942 (GRCm39)	S1063R	probably benign	Het
Notch4	A	C	17: 34,791,667 (GRCm39)	H582P	probably benign	Het
Nwd2	T	A	5: 63,964,837 (GRCm39)	C1474S	probably benign	Het
Or10ak14	A	T	4: 118,611,048 (GRCm39)	I231N	probably damaging	Het
Or4g17	A	T	2: 111,210,224 (GRCm39)	D293V	probably damaging	Het
Or5d36	A	C	2: 87,900,921 (GRCm39)	N268K	probably benign	Het
Or8b40	G	T	9: 38,027,959 (GRCm39)	S294I	probably damaging	Het
Pcmt1	A	T	10: 7,513,946 (GRCm39)	V241D	probably damaging	Het
Plcl1	T	A	1: 55,736,622 (GRCm39)	N654K	probably damaging	Het
Plg	G	A	17: 12,607,446 (GRCm39)	G121D	probably damaging	Het
Ptch1	A	G	13: 63,659,874 (GRCm39)	S1260P	probably benign	Het
Pwp1	G	T	10: 85,720,401 (GRCm39)	R346I	probably damaging	Het
R3hdm1	C	T	1: 128,144,232 (GRCm39)	T800I	probably benign	Het
Rab3gap2	A	G	1: 184,936,494 (GRCm39)	D19G	possibly damaging	Het
Resf1	T	G	6: 149,229,341 (GRCm39)	F796V	probably benign	Het
Slc1a3	G	T	15: 8,675,386 (GRCm39)	N206K	possibly damaging	Het
Slc6a3	T	C	13: 73,719,591 (GRCm39)	V540A	probably benign	Het
Sntb1	G	A	15: 55,654,661 (GRCm39)	P265S	probably benign	Het
Timm29	T	C	9: 21,504,749 (GRCm39)	V139A	probably damaging	Het
Tktl2	A	G	8: 66,965,753 (GRCm39)	E437G	probably damaging	Het
Tm2d3	T	A	7: 65,343,674 (GRCm39)	V56E	probably benign	Het
Trhr2	T	A	8: 123,087,276 (GRCm39)	T55S	probably damaging	Het
Trim17	T	G	11: 58,859,404 (GRCm39)	V206G	probably benign	Het
Trpm1	A	G	7: 63,918,445 (GRCm39)	N1479S	probably benign	Het
Trpv2	T	A	11: 62,473,914 (GRCm39)	C190S	probably benign	Het
Umod	A	T	7: 119,077,549 (GRCm39)		probably benign	Het
Usp34	T	A	11: 23,414,585 (GRCm39)	Y2862N		Het
Vmn1r158	A	G	7: 22,490,101 (GRCm39)	V36A	possibly damaging	Het
Zfp420	A	G	7: 29,574,791 (GRCm39)	Y337C	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
R0498:Asic5	UTSW	3	81,913,778 (GRCm39)	splice site	probably benign
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
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'- TGTACCCTCTTATGTAAAGACTCC -3'
(R):5'- GCGAGCTCTTCCTGGTACTTTG -3'

Sequencing Primer
(F):5'- ATGTAAAGACTCCAATGAAATCAGG -3'
(R):5'- GGTACTTTGTTATCATGACCTCTAAC -3'

Posted On

2019-06-26