Mutagenetix > Incidental Mutation

Incidental Mutation 'R5254:Asic5'

399311

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

042825-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5254 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

81889600-81928540 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 81928294 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 419 (I419K)

Ref Sequence

ENSEMBL: ENSMUSP00000103364 (fasta)

Gene Model

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

AlphaFold

Q9R0Y1

Predicted Effect

probably damaging
Transcript: ENSMUST00000029641
AA Change: I461K

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

SMART Domains

Protein: ENSMUSP00000029641
Gene: ENSMUSG00000028008
AA Change: I461K

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000107736
AA Change: I419K

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

SMART Domains

Protein: ENSMUSP00000103364
Gene: ENSMUSG00000028008
AA Change: I419K

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

Validation Efficiency

98% (82/84)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd8	G	T	8: 71,911,042 (GRCm39)	C296*	probably null	Het
Adam11	T	A	11: 102,665,098 (GRCm39)	Y413*	probably null	Het
Ankhd1	A	G	18: 36,789,768 (GRCm39)	I907V	probably benign	Het
Arrdc5	A	G	17: 56,604,897 (GRCm39)	I130T	probably benign	Het
Atp4a	A	T	7: 30,414,955 (GRCm39)	E248V	probably damaging	Het
Avil	C	A	10: 126,847,630 (GRCm39)	V154L	probably benign	Het
Bclaf1	T	A	10: 20,199,282 (GRCm39)	H226Q	possibly damaging	Het
Cald1	A	G	6: 34,723,351 (GRCm39)		probably benign	Het
Cd200r4	A	C	16: 44,652,453 (GRCm39)	D27A	possibly damaging	Het
Cdsn	T	A	17: 35,863,099 (GRCm39)	M1K	probably null	Het
Cfap46	T	A	7: 139,258,430 (GRCm39)	H281L	possibly damaging	Het
Chaf1a	T	C	17: 56,369,606 (GRCm39)	F533L	probably benign	Het
Chil4	T	A	3: 106,126,768 (GRCm39)	I5F	probably benign	Het
Ctu2	A	T	8: 123,203,327 (GRCm39)	R48W	probably damaging	Het
Daam1	A	T	12: 71,993,350 (GRCm39)	H373L	unknown	Het
Dcaf10	T	A	4: 45,370,415 (GRCm39)	Y328N	possibly damaging	Het
Dst	A	T	1: 34,217,012 (GRCm39)	K1151*	probably null	Het
Ect2	T	C	3: 27,184,219 (GRCm39)	D503G	probably damaging	Het
Epm2a	C	A	10: 11,333,089 (GRCm39)	D307E	probably benign	Het
Exph5	A	T	9: 53,249,230 (GRCm39)	D73V	probably damaging	Het
Fam20b	C	T	1: 156,533,310 (GRCm39)	G102D	probably damaging	Het
Fat2	T	C	11: 55,172,001 (GRCm39)	N2904S	probably damaging	Het
Flt3	T	A	5: 147,312,500 (GRCm39)	Q147L	possibly damaging	Het
Fndc11	A	G	2: 180,863,956 (GRCm39)	T254A	possibly damaging	Het
Galnt15	C	T	14: 31,780,244 (GRCm39)	R514*	probably null	Het
Gbgt1	A	G	2: 28,395,220 (GRCm39)	D286G	probably damaging	Het
Ggt1	T	A	10: 75,415,032 (GRCm39)		probably null	Het
Gm26526	A	T	7: 39,238,658 (GRCm39)		noncoding transcript	Het
H2-K2	T	C	17: 34,216,436 (GRCm39)	T237A	probably damaging	Het
Igf1r	T	A	7: 67,857,067 (GRCm39)	S1010T	probably damaging	Het
Il21	T	C	3: 37,281,884 (GRCm39)	T87A	possibly damaging	Het
Kmt2b	G	A	7: 30,268,600 (GRCm39)	R2010C	probably damaging	Het
Kmt2c	G	A	5: 25,519,592 (GRCm39)	P2173S	probably benign	Het
Krt1	A	T	15: 101,754,803 (GRCm39)	S512T	unknown	Het
Krtap16-1	G	A	11: 99,876,424 (GRCm39)	R327*	probably null	Het
Lama1	T	A	17: 68,063,711 (GRCm39)	I745N	probably benign	Het
Lrrk1	T	A	7: 65,956,855 (GRCm39)	N372I	probably benign	Het
Lyst	A	T	13: 13,857,655 (GRCm39)	E2481D	probably benign	Het
Map2k1	A	T	9: 64,095,027 (GRCm39)		probably benign	Het
Mbip	A	G	12: 56,384,228 (GRCm39)	V215A	probably damaging	Het
Mdc1	T	A	17: 36,158,814 (GRCm39)	V398D	probably benign	Het
Mog	T	G	17: 37,323,264 (GRCm39)	I225L	probably benign	Het
Mrgprx3-ps	T	A	7: 46,959,184 (GRCm39)		noncoding transcript	Het
Muc5b	C	T	7: 141,418,277 (GRCm39)	S3741L	probably benign	Het
Myo5a	A	T	9: 75,037,402 (GRCm39)	I202F	probably damaging	Het
Myo5b	A	T	18: 74,833,677 (GRCm39)	I818F	possibly damaging	Het
Nfia	T	A	4: 97,902,534 (GRCm39)	M262K	probably damaging	Het
Nisch	C	T	14: 30,928,524 (GRCm39)		probably null	Het
Nkd1	A	G	8: 89,315,822 (GRCm39)	D64G	probably damaging	Het
Nt5c2	T	A	19: 46,881,999 (GRCm39)	K284*	probably null	Het
Or14a259	A	T	7: 86,013,398 (GRCm39)	V49E	possibly damaging	Het
Or4k15b	C	A	14: 50,272,135 (GRCm39)	A242S	possibly damaging	Het
Or4l1	A	T	14: 50,166,236 (GRCm39)	I255N	probably damaging	Het
Or52z14	T	G	7: 103,252,996 (GRCm39)	I45R	probably benign	Het
Or5an1c	A	G	19: 12,218,612 (GRCm39)	S138P	probably damaging	Het
Or5j3	A	T	2: 86,128,265 (GRCm39)	Y35F	probably damaging	Het
Or8g55	A	T	9: 39,784,741 (GRCm39)	T57S	possibly damaging	Het
Or8k24	A	T	2: 86,216,484 (GRCm39)	S93T	possibly damaging	Het
Pcdhb17	A	T	18: 37,619,878 (GRCm39)	D556V	probably damaging	Het
Pcdhga8	A	T	18: 37,859,673 (GRCm39)	D243V	probably benign	Het
Polq	A	T	16: 36,909,681 (GRCm39)	Q2355L	probably damaging	Het
Slc22a30	G	A	19: 8,321,757 (GRCm39)	Q436*	probably null	Het
Slc5a4a	C	A	10: 76,018,572 (GRCm39)	Y506*	probably null	Het
Sp110	G	C	1: 85,504,923 (GRCm39)		probably benign	Het
Tarbp1	G	A	8: 127,193,895 (GRCm39)	H336Y	probably damaging	Het
Tas2r134	T	G	2: 51,517,559 (GRCm39)	F13V	probably benign	Het
Tgfb2	A	G	1: 186,436,680 (GRCm39)	Y98H	probably damaging	Het
Tmprss11a	C	A	5: 86,559,665 (GRCm39)	V376L	probably damaging	Het
Tmprss11f	T	A	5: 86,685,892 (GRCm39)	K158N	probably benign	Het
Tnip2	G	T	5: 34,660,922 (GRCm39)	Q177K	probably damaging	Het
Trp53inp1	T	A	4: 11,165,075 (GRCm39)		probably null	Het
Ttc28	C	T	5: 111,419,104 (GRCm39)	P1398S	probably benign	Het
Umodl1	T	G	17: 31,199,333 (GRCm39)	I308S	possibly damaging	Het
Vcan	A	T	13: 89,839,719 (GRCm39)	S1942T	probably damaging	Het
Vmn2r124	T	A	17: 18,283,339 (GRCm39)	N344K	probably benign	Het
Vmn2r25	C	G	6: 123,802,277 (GRCm39)	C542S	probably damaging	Het
Wiz	T	A	17: 32,597,470 (GRCm39)		probably benign	Het
Wrap73	A	G	4: 154,239,803 (GRCm39)	Y343C	probably benign	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
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'- GTACCAATTTCCAGTTCTGCTTAG -3'
(R):5'- GTGTGTACAGAAATGGGAATCTTC -3'

Sequencing Primer
(F):5'- CTGCTTAGCATTTTATGAGTGCAC -3'
(R):5'- CTGTGACATAAAGTCTCATAACAGTG -3'

Posted On

2016-07-06