Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01301:Slc9a9'

73221

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc9a9

Ensembl Gene

ENSMUSG00000031129

Gene Name

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

Synonyms

5730527A11Rik, Nhe9

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01301

Quality Score

Status

Chromosome

Chromosomal Location

94669909-95230445 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 95055459 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 455 (S455T)

Ref Sequence

ENSEMBL: ENSMUSP00000033463 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000033463
AA Change: S455T

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000033463
Gene: ENSMUSG00000031129
AA Change: S455T

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

Validation Efficiency

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012H06Rik	C	T	17: 14,943,919		probably null	Het
Acacb	A	T	5: 114,246,498	I2238L	probably benign	Het
Aldh1l2	T	C	10: 83,522,846	Y95C	probably damaging	Het
Asxl2	A	G	12: 3,501,425	T1056A	probably damaging	Het
B4galnt1	A	G	10: 127,169,779	T250A	possibly damaging	Het
Cela3b	A	T	4: 137,423,843		probably null	Het
Chst3	T	C	10: 60,185,832	T398A	probably damaging	Het
Cngb3	A	G	4: 19,425,625	T478A	probably damaging	Het
Cyp4a10	T	C	4: 115,518,455	L45P	probably damaging	Het
Defb21	A	G	2: 152,574,751	E49G	possibly damaging	Het
Dnajc1	T	C	2: 18,308,834	T159A	probably damaging	Het
Dnmbp	A	G	19: 43,902,354	S325P	probably benign	Het
Fam91a1	T	C	15: 58,442,871	F534L	probably damaging	Het
Fermt2	T	C	14: 45,464,863	E488G	probably damaging	Het
Filip1	T	C	9: 79,819,180	D719G	possibly damaging	Het
Gad1-ps	A	G	10: 99,445,151		noncoding transcript	Het
Glra3	C	A	8: 55,940,962	A36E	probably benign	Het
Gm9884	T	A	1: 25,830,648		probably benign	Het
Hectd2	T	C	19: 36,569,370		probably benign	Het
Hnrnpm	C	T	17: 33,669,168		probably null	Het
Lrrk2	T	A	15: 91,767,339	Y1733N	probably damaging	Het
Mindy1	T	C	3: 95,288,390	L148P	probably damaging	Het
Mkrn2	C	A	6: 115,611,789	Y164*	probably null	Het
Msra	T	C	14: 64,210,435	Y135C	probably damaging	Het
Ndst3	C	T	3: 123,548,916	A749T	probably damaging	Het
Ngdn	G	T	14: 55,017,114	A41S	probably benign	Het
Nlrp12	A	T	7: 3,240,092	S597T	probably damaging	Het
Olfr1451	A	T	19: 12,999,417	I144F	probably damaging	Het
Pabpc6	A	G	17: 9,667,970	S551P	probably benign	Het
Plekhg5	C	T	4: 152,112,553	A752V	probably benign	Het
Prpf4b	T	C	13: 34,884,291	S368P	probably benign	Het
Pus7	A	G	5: 23,746,424		probably null	Het
Rad23b	T	C	4: 55,366,774		probably benign	Het
Rgs13	T	C	1: 144,171,414		probably benign	Het
Sfpq	T	C	4: 127,026,760		probably benign	Het
Slco1a1	A	G	6: 141,932,530		probably benign	Het
Tmem26	A	T	10: 68,778,606	N284Y	probably damaging	Het
Tmem87a	T	C	2: 120,380,769	I232V	probably benign	Het
Trpm2	A	G	10: 77,923,984	L1106P	probably damaging	Het
Vmn1r18	T	C	6: 57,389,667		probably benign	Het
Zfp213	G	T	17: 23,561,417	A43D	probably benign	Het
Zfp365	A	G	10: 67,909,354	V198A	probably damaging	Het
Zfp395	T	A	14: 65,394,751		probably null	Het
Zfp618	G	A	4: 63,132,826	V615M	probably damaging	Het

Other mutations in Slc9a9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2013-10-07