Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03211:Slc9a9'

413318

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03211

Quality Score

Status

Chromosome

Chromosomal Location

94551962-95112498 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 95020043 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000033463 (fasta)

Gene Model

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

AlphaFold

Q8BZ00

Predicted Effect

probably benign
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

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bmp7	C	T	2: 172,714,676 (GRCm39)	V378I	possibly damaging	Het
Cd209b	G	T	8: 3,968,830 (GRCm39)		probably benign	Het
Cilp	A	T	9: 65,187,457 (GRCm39)	Q1184L	probably benign	Het
Cysltr2	A	T	14: 73,267,155 (GRCm39)	M185K	possibly damaging	Het
Dcaf6	A	G	1: 165,250,502 (GRCm39)	F121L	possibly damaging	Het
Dnajc8	T	A	4: 132,272,048 (GRCm39)	Y95N	possibly damaging	Het
Ebf3	A	G	7: 136,833,033 (GRCm39)	V214A	probably benign	Het
Elavl3	A	G	9: 21,929,974 (GRCm39)	V310A	probably damaging	Het
Emc2	C	T	15: 43,371,068 (GRCm39)	R131*	probably null	Het
Hcn4	G	A	9: 58,765,434 (GRCm39)	V639M	unknown	Het
Kif21a	T	G	15: 90,882,166 (GRCm39)	D46A	possibly damaging	Het
Kitl	T	C	10: 99,916,721 (GRCm39)	S175P	probably benign	Het
Klhl32	C	T	4: 24,792,616 (GRCm39)		probably null	Het
Plcg1	C	T	2: 160,601,611 (GRCm39)	T972I	possibly damaging	Het
Prdm13	T	C	4: 21,678,492 (GRCm39)	H666R	probably damaging	Het
Rap1gap	G	A	4: 137,443,157 (GRCm39)		probably null	Het
Rdh7	T	C	10: 127,723,492 (GRCm39)	N121S	probably benign	Het
Ric8b	T	A	10: 84,837,657 (GRCm39)	I488N	probably damaging	Het
Slc38a2	A	T	15: 96,596,153 (GRCm39)		probably null	Het
Tk2	T	A	8: 104,970,073 (GRCm39)	I64F	probably damaging	Het
Virma	G	A	4: 11,548,770 (GRCm39)	W1776*	probably null	Het
Vrk1	C	T	12: 106,002,847 (GRCm39)	A15V	probably benign	Het
Wdfy3	T	C	5: 101,992,778 (GRCm39)		probably benign	Het
Wfdc10	T	C	2: 164,499,172 (GRCm39)	V94A	probably benign	Het
Zfp780b	A	T	7: 27,662,600 (GRCm39)	C652S	possibly damaging	Het

Other mutations in Slc9a9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01301:Slc9a9	APN	9	94,937,512 (GRCm39)	missense	probably benign	0.03
IGL01394:Slc9a9	APN	9	95,005,090 (GRCm39)	missense	probably benign
IGL01434:Slc9a9	APN	9	94,901,247 (GRCm39)	missense	possibly damaging	0.49
IGL01715:Slc9a9	APN	9	94,842,499 (GRCm39)	missense	probably damaging	1.00
IGL01821:Slc9a9	APN	9	95,111,003 (GRCm39)	missense	probably benign
IGL02963:Slc9a9	APN	9	94,902,767 (GRCm39)	critical splice donor site	probably null
ANU18:Slc9a9	UTSW	9	94,937,512 (GRCm39)	missense	probably benign	0.03
R0306:Slc9a9	UTSW	9	95,019,987 (GRCm39)	missense	probably benign
R0382:Slc9a9	UTSW	9	94,567,270 (GRCm39)	missense	probably benign	0.18
R0388:Slc9a9	UTSW	9	94,821,616 (GRCm39)	critical splice donor site	probably null
R1509:Slc9a9	UTSW	9	95,111,011 (GRCm39)	missense	probably benign
R1785:Slc9a9	UTSW	9	94,901,246 (GRCm39)	missense	possibly damaging	0.95
R4018:Slc9a9	UTSW	9	94,567,216 (GRCm39)	missense	probably benign	0.03
R4167:Slc9a9	UTSW	9	95,110,952 (GRCm39)	missense	probably damaging	0.98
R4170:Slc9a9	UTSW	9	95,110,952 (GRCm39)	missense	probably damaging	0.98
R4695:Slc9a9	UTSW	9	94,818,502 (GRCm39)	critical splice donor site	probably benign
R5400:Slc9a9	UTSW	9	94,594,954 (GRCm39)	missense	probably damaging	1.00
R5609:Slc9a9	UTSW	9	94,691,990 (GRCm39)	missense	probably damaging	1.00
R5684:Slc9a9	UTSW	9	94,937,561 (GRCm39)	missense	possibly damaging	0.89
R6015:Slc9a9	UTSW	9	94,821,602 (GRCm39)	missense	probably benign	0.29
R6102:Slc9a9	UTSW	9	94,818,482 (GRCm39)	missense	probably benign	0.03
R6317:Slc9a9	UTSW	9	94,821,512 (GRCm39)	missense	possibly damaging	0.51
R6398:Slc9a9	UTSW	9	94,552,280 (GRCm39)	missense	probably benign	0.00
R6476:Slc9a9	UTSW	9	94,567,191 (GRCm39)	missense	probably benign	0.00
R6501:Slc9a9	UTSW	9	94,818,424 (GRCm39)	missense	probably benign	0.01
R6603:Slc9a9	UTSW	9	94,821,599 (GRCm39)	missense	probably damaging	0.98
R6611:Slc9a9	UTSW	9	94,821,531 (GRCm39)	missense	probably benign	0.18
R6700:Slc9a9	UTSW	9	94,818,364 (GRCm39)	missense	possibly damaging	0.66
R6824:Slc9a9	UTSW	9	95,109,251 (GRCm39)	missense	probably damaging	1.00
R6931:Slc9a9	UTSW	9	94,552,139 (GRCm39)	missense	possibly damaging	0.73
R6975:Slc9a9	UTSW	9	94,842,499 (GRCm39)	missense	probably damaging	1.00
R6987:Slc9a9	UTSW	9	94,552,043 (GRCm39)	start gained	probably benign
R7325:Slc9a9	UTSW	9	94,594,951 (GRCm39)	missense	probably benign	0.24
R7374:Slc9a9	UTSW	9	94,937,542 (GRCm39)	missense	possibly damaging	0.90
R7437:Slc9a9	UTSW	9	95,110,994 (GRCm39)	missense	probably benign	0.00
R7614:Slc9a9	UTSW	9	94,737,792 (GRCm39)	missense	probably damaging	1.00
R8412:Slc9a9	UTSW	9	95,111,092 (GRCm39)	missense	probably damaging	1.00
R8501:Slc9a9	UTSW	9	94,737,792 (GRCm39)	missense	probably damaging	1.00
R8514:Slc9a9	UTSW	9	94,818,418 (GRCm39)	missense	probably benign	0.01
R9011:Slc9a9	UTSW	9	94,818,493 (GRCm39)	missense	probably benign	0.01
R9168:Slc9a9	UTSW	9	94,595,000 (GRCm39)	missense	probably damaging	1.00
R9683:Slc9a9	UTSW	9	94,552,235 (GRCm39)	missense	probably damaging	1.00
R9688:Slc9a9	UTSW	9	95,111,107 (GRCm39)	missense	probably benign	0.06
X0010:Slc9a9	UTSW	9	94,567,261 (GRCm39)	missense	possibly damaging	0.46

Posted On

2016-08-02