Mutagenetix > Incidental Mutations

Incidental Mutation 'R6501:Slc9a9'

519734

Institutional Source

Beutler Lab

Gene Symbol

Slc9a9

Ensembl Gene

ENSMUSG00000031129

Gene Name

solute carrier family 9 (sodium/hydrogen exchanger), member 9

Synonyms

5730527A11Rik, Nhe9

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6501 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

94669909-95230445 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 94936371 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 273 (Q273K)

Ref Sequence

ENSEMBL: ENSMUSP00000033463 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033463]

Predicted Effect

probably benign
Transcript: ENSMUST00000033463
AA Change: Q273K

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000033463
Gene: ENSMUSG00000031129
AA Change: Q273K

Domain	Start	End	E-Value	Type
Pfam:Na_H_Exchanger	28	486	2.6e-89	PFAM
low complexity region	594	600	N/A	INTRINSIC
low complexity region	621	635	N/A	INTRINSIC

Meta Mutation Damage Score

0.1039

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.1%

Validation Efficiency

100% (48/48)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a sodium/proton exchanger that is a member of the solute carrier 9 protein family. The encoded protein localizes the to the late recycling endosomes and may play an important role in maintaining cation homeostasis. Mutations in this gene are associated with autism susceptibility 16 and attention-deficit/hyperactivity disorder. [provided by RefSeq, Mar 2012]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd8	A	T	8: 71,461,521	C154*	probably null	Het
Ada	A	G	2: 163,728,188		probably null	Het
Birc6	G	A	17: 74,579,281	V535I	probably damaging	Het
Bptf	T	C	11: 107,077,683	N1058S	probably null	Het
Cdadc1	C	T	14: 59,586,449	C198Y	probably benign	Het
Chrna7	G	A	7: 63,106,115	R228C	probably damaging	Het
Cts6	T	C	13: 61,196,335	N301S	probably damaging	Het
Cts8	T	A	13: 61,250,942	D250V	probably damaging	Het
Cyp26a1	G	T	19: 37,699,070	R235L	possibly damaging	Het
Disc1	A	T	8: 125,218,105	M598L	probably benign	Het
Ear6	T	A	14: 51,854,224	V76D	possibly damaging	Het
Grifin	A	G	5: 140,563,281	*145R	probably null	Het
Htr2b	T	G	1: 86,110,641	E11A	probably damaging	Het
Krtap4-9	T	A	11: 99,785,429		probably benign	Het
Larp4b	A	C	13: 9,168,793	H522P	probably damaging	Het
Macf1	A	T	4: 123,469,632		probably null	Het
Mdfic	T	C	6: 15,770,517	L174P	possibly damaging	Het
Mmp17	A	G	5: 129,606,405	E535G	probably benign	Het
Nfxl1	A	T	5: 72,528,509		probably null	Het
Nynrin	A	T	14: 55,863,532	T260S	probably benign	Het
Olfr1294	C	T	2: 111,537,779	G170D	probably damaging	Het
Olfr859	A	T	9: 19,808,975	Y219F	possibly damaging	Het
Olfr905	A	T	9: 38,473,289	I181F	possibly damaging	Het
Pbx1	G	T	1: 168,209,534	D109E	probably damaging	Het
Pde4d	A	T	13: 109,116,942	H101L	probably benign	Het
Pdlim3	T	C	8: 45,908,602	I155T	possibly damaging	Het
Plekha5	T	A	6: 140,525,929	Y26*	probably null	Het
Prpf6	T	A	2: 181,621,920	L191*	probably null	Het
Rabl6	A	G	2: 25,602,447	V80A	possibly damaging	Het
Rp1	T	C	1: 4,311,280		probably benign	Het
Sec14l1	A	G	11: 117,156,850	S698G	probably damaging	Het
Skiv2l	A	G	17: 34,844,436	S622P	possibly damaging	Het
Slc19a1	G	A	10: 77,049,606	G447S	probably benign	Het
Slc2a6	A	T	2: 27,023,131	Y383*	probably null	Het
Spint2	A	G	7: 29,263,706	Y56H	probably damaging	Het
Sspo	T	A	6: 48,495,212	M123K	possibly damaging	Het
Syne2	A	G	12: 76,027,847		probably null	Het
Trdn	A	C	10: 33,466,454	K619N	probably benign	Het
Ttll13	A	G	7: 80,250,176	T119A	possibly damaging	Het
Ttn	T	C	2: 76,785,646	Y8324C	probably damaging	Het
Ttn	T	C	2: 76,898,258		probably benign	Het
Vav2	A	G	2: 27,296,219	L208P	probably damaging	Het
Vmn1r179	A	G	7: 23,928,917	I178V	probably benign	Het
Vmn1r210	T	C	13: 22,827,535	M194V	possibly damaging	Het
Vmn2r103	A	T	17: 19,811,904	T647S	probably benign	Het
Wdr49	T	A	3: 75,339,458	H289L	probably benign	Het
Wnk2	T	G	13: 49,146,683	K184Q	probably damaging	Het
Zfp758	A	G	17: 22,371,997		probably benign	Het

Other mutations in Slc9a9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01301:Slc9a9	APN	9	95055459	missense	probably benign	0.03
IGL01394:Slc9a9	APN	9	95123037	missense	probably benign
IGL01434:Slc9a9	APN	9	95019194	missense	possibly damaging	0.49
IGL01715:Slc9a9	APN	9	94960446	missense	probably damaging	1.00
IGL01821:Slc9a9	APN	9	95228950	missense	probably benign
IGL02963:Slc9a9	APN	9	95020714	critical splice donor site	probably null
IGL03211:Slc9a9	APN	9	95137990	splice site	probably benign
ANU18:Slc9a9	UTSW	9	95055459	missense	probably benign	0.03
R0306:Slc9a9	UTSW	9	95137934	missense	probably benign
R0382:Slc9a9	UTSW	9	94685217	missense	probably benign	0.18
R0388:Slc9a9	UTSW	9	94939563	critical splice donor site	probably null
R1509:Slc9a9	UTSW	9	95228958	missense	probably benign
R1785:Slc9a9	UTSW	9	95019193	missense	possibly damaging	0.95
R4018:Slc9a9	UTSW	9	94685163	missense	probably benign	0.03
R4167:Slc9a9	UTSW	9	95228899	missense	probably damaging	0.98
R4170:Slc9a9	UTSW	9	95228899	missense	probably damaging	0.98
R4695:Slc9a9	UTSW	9	94936449	critical splice donor site	probably benign
R5400:Slc9a9	UTSW	9	94712901	missense	probably damaging	1.00
R5609:Slc9a9	UTSW	9	94809937	missense	probably damaging	1.00
R5684:Slc9a9	UTSW	9	95055508	missense	possibly damaging	0.89
R6015:Slc9a9	UTSW	9	94939549	missense	probably benign	0.29
R6102:Slc9a9	UTSW	9	94936429	missense	probably benign	0.03
R6317:Slc9a9	UTSW	9	94939459	missense	possibly damaging	0.51
R6398:Slc9a9	UTSW	9	94670227	missense	probably benign	0.00
R6476:Slc9a9	UTSW	9	94685138	missense	probably benign	0.00
R6603:Slc9a9	UTSW	9	94939546	missense	probably damaging	0.98
R6611:Slc9a9	UTSW	9	94939478	missense	probably benign	0.18
R6700:Slc9a9	UTSW	9	94936311	missense	possibly damaging	0.66
R6824:Slc9a9	UTSW	9	95227198	missense	probably damaging	1.00
R6931:Slc9a9	UTSW	9	94670086	missense	possibly damaging	0.73
R6975:Slc9a9	UTSW	9	94960446	missense	probably damaging	1.00
R6987:Slc9a9	UTSW	9	94669990	start gained	probably benign
R7325:Slc9a9	UTSW	9	94712898	missense	probably benign	0.24
R7374:Slc9a9	UTSW	9	95055489	missense	possibly damaging	0.90
R7437:Slc9a9	UTSW	9	95228941	missense	probably benign	0.00
R7614:Slc9a9	UTSW	9	94855739	missense	probably damaging	1.00
R8412:Slc9a9	UTSW	9	95229039	missense	probably damaging	1.00
R8501:Slc9a9	UTSW	9	94855739	missense	probably damaging	1.00
R8514:Slc9a9	UTSW	9	94936365	missense	probably benign	0.01
X0010:Slc9a9	UTSW	9	94685208	missense	possibly damaging	0.46

Predicted Primers

PCR Primer
(F):5'- TGGTTTATCTCACCAGCACC -3'
(R):5'- TGCTACTGATCCAGTGCCTC -3'

Sequencing Primer
(F):5'- CCAGCCTCATTGGAAAGTGTG -3'
(R):5'- TACTGATCCAGTGCCTCATGGG -3'

Posted On

2018-06-06