Mutagenetix > Incidental Mutations

Incidental Mutation 'R7325:Slc9a9'

568825

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 #

R7325 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

94669909-95230445 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 94712898 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 154 (H154Y)

Ref Sequence

ENSEMBL: ENSMUSP00000033463 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000033463
AA Change: H154Y

PolyPhen 2 Score 0.243 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000033463
Gene: ENSMUSG00000031129
AA Change: H154Y

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

Coding Region Coverage

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

Validation Efficiency

100% (62/62)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb3	T	A	1: 25,532,630	Q402L	probably benign	Het
Afap1l1	T	C	18: 61,736,846	T638A	probably benign	Het
Agtr1a	A	C	13: 30,381,907	K318N	possibly damaging	Het
Anks1b	A	G	10: 90,941,432	T1095A	probably damaging	Het
Ap3d1	A	T	10: 80,723,803	I207N	probably damaging	Het
Arhgef11	T	C	3: 87,713,292	L484P	possibly damaging	Het
Astn2	C	T	4: 65,542,669	S1076N	probably benign	Het
Baat	C	A	4: 49,490,213	L290F	probably benign	Het
Boll	T	C	1: 55,304,598	Y222C	probably damaging	Het
Bphl	A	T	13: 34,050,341	I147F	possibly damaging	Het
C330027C09Rik	T	A	16: 49,005,821	M417K	probably benign	Het
Cadps2	T	G	6: 23,409,935	D766A	unknown	Het
Cd300lb	T	A	11: 114,925,032	K210M	probably damaging	Het
Cdan1	T	C	2: 120,724,704	Q797R	probably benign	Het
Celsr1	T	A	15: 86,033,008	S255C	probably damaging	Het
Csmd1	G	A	8: 16,058,707	S1894L	probably damaging	Het
Dennd5b	T	A	6: 149,020,570	K815N	probably benign	Het
Exd1	A	G	2: 119,520,139	V547A	probably benign	Het
Fbxo15	C	T	18: 84,959,118	R52C	probably damaging	Het
Fip1l1	A	G	5: 74,536,799		probably null	Het
Flg2	T	A	3: 93,203,372	N902K	unknown	Het
Fyttd1	T	A	16: 32,884,248	N76K	probably benign	Het
Gins1	T	A	2: 150,916,166	D57E	probably benign	Het
Gm5565	G	C	5: 146,158,361		probably null	Het
Gm6614	T	C	6: 141,989,225	K379E	probably damaging	Het
Gpsm2	T	C	3: 108,702,928	Y72C	probably damaging	Het
Hace1	C	A	10: 45,589,507	S53*	probably null	Het
Insig2	A	G	1: 121,306,937	V188A	possibly damaging	Het
Ism1	T	C	2: 139,757,043	V312A	probably damaging	Het
Jmy	A	T	13: 93,472,743	Y353N	probably damaging	Het
Maats1	T	A	16: 38,321,601		probably null	Het
Maz	A	C	7: 127,025,553	V265G	probably benign	Het
Mtmr14	T	A	6: 113,269,548	I426N	probably damaging	Het
Olfr1054	A	G	2: 86,333,000	S119P	possibly damaging	Het
Olfr1467	A	G	19: 13,364,637	E3G	probably benign	Het
Olfr394	C	T	11: 73,888,275	M32I	probably benign	Het
Pcdhac2	T	A	18: 37,145,360	N464K	probably damaging	Het
Pcdhb7	T	A	18: 37,343,387	H525Q	probably benign	Het
Pcp4l1	G	A	1: 171,174,465	A42V	possibly damaging	Het
Podn	C	T	4: 108,017,702		probably null	Het
Prim1	A	G	10: 128,022,919	D232G	probably null	Het
Prrt1	T	A	17: 34,632,187	M283K	possibly damaging	Het
Rgs9	A	T	11: 109,276,581	I65N	probably damaging	Het
Scgb2b26	C	A	7: 33,944,357	V53L	probably benign	Het
Shank2	C	A	7: 144,411,685	P1010Q	probably benign	Het
Slc12a4	C	T	8: 105,955,715	G121S	probably damaging	Het
Slc17a6	G	T	7: 51,645,018	A158S	probably damaging	Het
Slco2a1	T	A	9: 103,085,749		probably null	Het
Snapc3	T	C	4: 83,435,270	I182T	probably benign	Het
Taok2	A	G	7: 126,871,088	V856A	probably benign	Het
Tep1	T	A	14: 50,866,038	N265I	probably damaging	Het
Tespa1	A	T	10: 130,362,041	N311Y	probably damaging	Het
Tpmt	G	A	13: 47,041,484	Q14*	probably null	Het
Trim33	T	C	3: 103,321,636	F353L	possibly damaging	Het
Upp1	T	C	11: 9,134,743	V154A	probably damaging	Het
Usp34	T	C	11: 23,419,052	I1747T		Het
Vmn1r47	T	C	6: 90,022,272	S129P	probably benign	Het
Vmn2r93	A	G	17: 18,303,987	Y81C	probably benign	Het
Ybx2	A	T	11: 69,940,355	T259S	probably benign	Het
Zfp536	T	C	7: 37,479,860	T1107A	probably benign	Het
Zfp583	C	T	7: 6,316,586	A476T	probably damaging	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
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
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'- AGCTGCATCTGTGGGTTATCTC -3'
(R):5'- CTCACAGACACATACTTGGTCC -3'

Sequencing Primer
(F):5'- GCATCTGTGGGTTATCTCTCCCTTG -3'
(R):5'- CTTGGTCCAAAGAGTAAGCATC -3'

Posted On

2019-09-13