Mutagenetix > Incidental Mutations

Incidental Mutation 'R0382:Slc9a9'

31022

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

038588-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0382 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

94669909-95230445 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 94685217 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 113 (H113L)

Ref Sequence

ENSEMBL: ENSMUSP00000033463 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000033463
AA Change: H113L

PolyPhen 2 Score 0.180 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000033463
Gene: ENSMUSG00000031129
AA Change: H113L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162870

Meta Mutation Damage Score

0.0943

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.5%
20x: 90.1%

Validation Efficiency

98% (58/59)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	A	T	6: 86,946,919	Q266L	probably benign	Het
Abca13	T	C	11: 9,636,650		probably benign	Het
Adap2	T	C	11: 80,178,385		probably benign	Het
Adgrb2	C	G	4: 130,007,831	P416R	probably damaging	Het
Brinp1	T	C	4: 68,762,308	R662G	possibly damaging	Het
Celsr3	C	A	9: 108,829,218	P967T	probably damaging	Het
Ces1b	T	C	8: 93,076,052		probably benign	Het
Ckm	T	C	7: 19,421,384	*382Q	probably null	Het
Clec14a	A	G	12: 58,268,617	V73A	probably damaging	Het
Cmya5	A	T	13: 93,092,748	V1944E	probably benign	Het
Col6a6	T	A	9: 105,755,555	D1473V	probably damaging	Het
Cttnbp2	A	G	6: 18,435,343	M172T	probably benign	Het
Dcaf12	T	C	4: 41,302,672	N161S	probably damaging	Het
Dnah17	T	C	11: 118,128,996	Y75C	probably damaging	Het
Efcab7	T	C	4: 99,901,769	V388A	possibly damaging	Het
Fat3	A	G	9: 15,959,756	C3780R	probably damaging	Het
Fbxl14	T	C	6: 119,481,060	*401R	probably null	Het
Fbxo5	G	T	10: 5,801,176	Y270*	probably null	Het
Fnbp1l	A	T	3: 122,570,953		probably benign	Het
Fstl3	T	C	10: 79,777,307	S3P	probably benign	Het
Gpatch1	T	C	7: 35,301,655	D309G	probably damaging	Het
Gstcd	A	T	3: 132,986,408	L582H	probably damaging	Het
Klk6	A	G	7: 43,829,245	D192G	probably benign	Het
Lrp6	A	G	6: 134,467,668	S1080P	probably damaging	Het
Lztfl1	T	C	9: 123,707,906		probably null	Het
Mov10l1	A	G	15: 88,985,593	Y59C	possibly damaging	Het
Natd1	C	T	11: 60,906,913	R62H	probably damaging	Het
Obscn	T	C	11: 59,040,306	T5835A	probably damaging	Het
Olfr1052	A	G	2: 86,298,593	Y259C	probably damaging	Het
Olfr1183	A	T	2: 88,461,725	R147S	possibly damaging	Het
Olfr1354	T	A	10: 78,917,126	Y95*	probably null	Het
Olfr792	T	C	10: 129,541,014	I159T	probably benign	Het
P2rx2	T	A	5: 110,341,179	E289V	probably benign	Het
Patl1	T	A	19: 11,925,232		probably null	Het
Ptprf	A	G	4: 118,223,394		probably benign	Het
Qrfpr	C	T	3: 36,180,969	C253Y	possibly damaging	Het
Rad21l	A	T	2: 151,645,443	D540E	probably damaging	Het
Rbm45	T	A	2: 76,370,211	I28N	possibly damaging	Het
Rnf170	A	T	8: 26,125,899		probably benign	Het
Sgsm3	G	A	15: 81,008,314	W280*	probably null	Het
Slc9b2	G	T	3: 135,318,422	C78F	probably damaging	Het
Slfn10-ps	T	A	11: 83,029,534		noncoding transcript	Het
Slfn8	T	A	11: 83,004,556	I475F	probably damaging	Het
Stox2	A	G	8: 47,203,284		probably benign	Het
Strbp	A	T	2: 37,600,826	N472K	probably benign	Het
Tcam1	G	A	11: 106,284,078	E120K	probably benign	Het
Tmem39a	A	G	16: 38,591,398		probably benign	Het
Trpc4ap	A	G	2: 155,636,230	L664P	probably damaging	Het
Uap1	T	A	1: 170,161,482	M124L	probably benign	Het
Usp48	A	G	4: 137,621,218	N536S	probably benign	Het
Usp50	T	A	2: 126,777,928	I155F	probably damaging	Het
Utp4	T	C	8: 106,922,935	I672T	probably benign	Het
Vmn1r94	A	T	7: 20,167,653	M242K	possibly damaging	Het
Vmn2r45	T	G	7: 8,483,099	N397H	probably benign	Het
Vmn2r9	T	C	5: 108,847,597	Y395C	probably damaging	Het
Vps41	C	A	13: 18,827,727	H335N	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
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
R6501:Slc9a9	UTSW	9	94936371	missense	probably benign	0.01
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
X0010:Slc9a9	UTSW	9	94685208	missense	possibly damaging	0.46

Predicted Primers

PCR Primer
(F):5'- TCCAAGTCAAACGTGTGCTTCAGTC -3'
(R):5'- TGCCCCAGTGTGACAATGTGAAAG -3'

Sequencing Primer
(F):5'- TGCTTCAGTCAACTATGGGAGAC -3'
(R):5'- CAATGTGAAAGCAACTGGTGTTTAG -3'

Posted On

2013-04-24