Mutagenetix > Incidental Mutation

Incidental Mutation 'R0388:Slc9a9'

31420

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

038594-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0388 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

94669909-95230445 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 94939563 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000033463 (fasta)

Gene Model

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

AlphaFold

Q8BZ00

Predicted Effect

probably null
Transcript: ENSMUST00000033463

SMART Domains

Protein: ENSMUSP00000033463
Gene: ENSMUSG00000031129

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

probably null
Transcript: ENSMUST00000033463

SMART Domains

Protein: ENSMUSP00000033463
Gene: ENSMUSG00000031129

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

0.9501

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.6%
20x: 90.7%

Validation Efficiency

100% (67/67)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	C	9: 124,295,159		probably benign	Het
Acsbg1	T	C	9: 54,609,063	K678R	probably damaging	Het
Adgrg6	A	G	10: 14,450,658	I410T	probably benign	Het
Afap1l2	A	C	19: 56,917,242		probably benign	Het
Aox2	T	C	1: 58,354,406	Y1242H	probably damaging	Het
Apoo-ps	T	C	13: 107,414,673		noncoding transcript	Het
Camta1	C	A	4: 151,075,140	R1614L	probably damaging	Het
Cdh3	C	A	8: 106,539,129	T268K	probably damaging	Het
Chd5	T	A	4: 152,371,644	H923Q	probably damaging	Het
Chd7	T	C	4: 8,854,560	V1967A	probably benign	Het
Cntn3	T	C	6: 102,277,316	M222V	probably damaging	Het
Dcaf17	A	G	2: 71,078,571	K277R	probably benign	Het
Dmbt1	T	C	7: 131,096,049		probably benign	Het
Dmpk	T	A	7: 19,084,077		probably benign	Het
Dzank1	A	T	2: 144,476,106	L714Q	possibly damaging	Het
Efcab3	A	G	11: 105,109,401	D272G	possibly damaging	Het
Erbb2	G	C	11: 98,427,351	R471P	possibly damaging	Het
Esf1	T	A	2: 140,120,871	Y760F	possibly damaging	Het
Fanci	C	A	7: 79,439,630	T938K	probably benign	Het
Gnai3	A	G	3: 108,115,757		probably benign	Het
Hspg2	T	A	4: 137,511,158	C319S	probably damaging	Het
Il12a	T	A	3: 68,695,187		probably null	Het
Inpp4a	A	G	1: 37,396,160	D837G	probably damaging	Het
Kcnj5	T	A	9: 32,317,863	E13V	probably damaging	Het
Kcnq3	T	A	15: 66,000,038	Y594F	probably benign	Het
Kif16b	T	C	2: 142,740,937	E556G	probably damaging	Het
Kif28	T	C	1: 179,740,089	I39V	possibly damaging	Het
Lgi2	T	C	5: 52,554,549	E143G	probably damaging	Het
Mast1	T	G	8: 84,915,537	I1063L	probably benign	Het
Med12l	T	C	3: 59,093,504		probably benign	Het
Mmp19	G	T	10: 128,798,883	R456L	probably benign	Het
Mon1b	T	A	8: 113,639,078	V346E	probably damaging	Het
Mpv17l	A	T	16: 13,940,999	I96L	probably benign	Het
Mrgpra9	A	T	7: 47,252,794	M1K	probably null	Het
Mycbp2	A	T	14: 103,156,667	H2819Q	probably benign	Het
Nav1	A	C	1: 135,448,917		probably benign	Het
Neurl4	T	C	11: 69,911,733		probably benign	Het
Ntng2	G	C	2: 29,207,426	P341R	probably damaging	Het
Oas1d	A	T	5: 120,917,028	Y221F	probably damaging	Het
Olfr1040	A	G	2: 86,146,630	Y35H	probably damaging	Het
Olfr348	C	A	2: 36,786,862	D112E	probably benign	Het
Olfr365	A	C	2: 37,202,184		probably null	Het
Osbpl8	A	G	10: 111,272,282	M380V	probably benign	Het
Pank1	T	C	19: 34,821,706		probably benign	Het
Parn	T	C	16: 13,654,476	D169G	possibly damaging	Het
Pknox1	T	A	17: 31,603,192	I311N	probably damaging	Het
Pprc1	T	C	19: 46,062,775	V248A	possibly damaging	Het
Prkcq	T	C	2: 11,254,234	C322R	probably benign	Het
Ptpn13	T	A	5: 103,555,062	I1298N	probably benign	Het
Rab11fip3	A	G	17: 26,069,072	S36P	probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Sass6	C	A	3: 116,607,308		probably benign	Het
Shroom3	G	A	5: 92,951,293	G1463D	probably benign	Het
Slc35d1	A	T	4: 103,184,887	Y249*	probably null	Het
Slc9a3	C	T	13: 74,121,536	P8S	unknown	Het
Syne2	T	A	12: 75,986,975	M3666K	probably benign	Het
Synpo2	A	G	3: 123,079,897	V1140A	probably benign	Het
Thada	A	G	17: 84,231,096	F1495L	probably benign	Het
Timeless	A	G	10: 128,241,425		probably null	Het
Tlr6	G	T	5: 64,955,205	H120N	possibly damaging	Het
Tmem173	A	G	18: 35,735,111		probably null	Het
Tns3	T	C	11: 8,445,703	I1234V	probably benign	Het
Ttll9	A	G	2: 153,000,179	S318G	probably benign	Het
Vps13c	T	C	9: 67,922,915		probably benign	Het
Zfp933	T	C	4: 147,826,442	I232M	probably benign	Het
Zfyve27	T	C	19: 42,189,585	S382P	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
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
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
R9011:Slc9a9	UTSW	9	94936440	missense	probably benign	0.01
R9168:Slc9a9	UTSW	9	94712947	missense	probably damaging	1.00
R9683:Slc9a9	UTSW	9	94670182	missense	probably damaging	1.00
R9688:Slc9a9	UTSW	9	95229054	missense	probably benign	0.06
X0010:Slc9a9	UTSW	9	94685208	missense	possibly damaging	0.46

Predicted Primers

PCR Primer
(F):5'- GCCAAGTCCTTTCCTCTTAGGCAAC -3'
(R):5'- TCATCCGTCATAACCATCGGCCAG -3'

Sequencing Primer
(F):5'- TCCTCTTAGGCAACAAGGAGATTG -3'
(R):5'- TCCCCTCCTGTCCAAAAGG -3'

Posted On

2013-04-24