Mutagenetix > Incidental Mutation

Incidental Mutation 'R6700:Slc9a9'

528222

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

044818-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6700 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

94551962-95112498 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 94818364 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 253 (S253P)

Ref Sequence

ENSEMBL: ENSMUSP00000033463 (fasta)

Gene Model

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

AlphaFold

Q8BZ00

Predicted Effect

possibly damaging
Transcript: ENSMUST00000033463
AA Change: S253P

PolyPhen 2 Score 0.661 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000033463
Gene: ENSMUSG00000031129
AA Change: S253P

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

0.7275

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.0%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	T	C	9: 55,881,140 (GRCm39)	E504G	unknown	Het
Aak1	G	A	6: 86,941,185 (GRCm39)	E660K	unknown	Het
Abcc9	A	G	6: 142,633,013 (GRCm39)	I243T	possibly damaging	Het
Baiap3	A	G	17: 25,463,000 (GRCm39)	S1013P	probably damaging	Het
Bdp1	A	T	13: 100,162,036 (GRCm39)	D2295E	probably benign	Het
Blm	A	G	7: 80,113,598 (GRCm39)	V1233A	possibly damaging	Het
Brsk1	G	T	7: 4,695,700 (GRCm39)	V62F	probably damaging	Het
Cacna2d1	A	G	5: 16,570,458 (GRCm39)	E1011G	probably damaging	Het
Cdh18	A	G	15: 23,474,191 (GRCm39)	Y687C	probably benign	Het
Cfap221	T	C	1: 119,883,421 (GRCm39)	E250G	possibly damaging	Het
Col5a3	C	T	9: 20,690,329 (GRCm39)	G1162R	probably damaging	Het
Cps1	G	T	1: 67,268,682 (GRCm39)		probably null	Het
Cyp4v3	A	G	8: 45,760,130 (GRCm39)	V34A	probably damaging	Het
Dnah9	C	T	11: 65,846,192 (GRCm39)	V2949M	probably damaging	Het
Dst	A	C	1: 34,295,404 (GRCm39)	Q3454P	probably damaging	Het
Filip1l	T	C	16: 57,391,611 (GRCm39)	L495P	possibly damaging	Het
Flnb	C	A	14: 7,892,189 (GRCm38)	H619Q	probably damaging	Het
Fst	G	C	13: 114,595,043 (GRCm39)	A27G	probably benign	Het
Ggnbp2	C	A	11: 84,730,931 (GRCm39)	R364L	probably damaging	Het
Gins1	C	T	2: 150,758,148 (GRCm39)	A78V	probably damaging	Het
Gm19410	T	A	8: 36,274,664 (GRCm39)	L1495H	possibly damaging	Het
Golgb1	C	T	16: 36,695,946 (GRCm39)		probably benign	Het
Lin7a	A	G	10: 107,216,167 (GRCm39)		probably null	Het
Lrp6	A	T	6: 134,456,523 (GRCm39)	C914S	probably damaging	Het
Lrrc8e	G	A	8: 4,286,034 (GRCm39)	G753D	probably damaging	Het
Mapk4	A	G	18: 74,063,882 (GRCm39)	Y447H	probably damaging	Het
Mbl1	A	G	14: 40,880,511 (GRCm39)	N133S	probably damaging	Het
Mrps30	A	T	13: 118,517,134 (GRCm39)	S362T	probably damaging	Het
Myo1c	C	T	11: 75,562,461 (GRCm39)	P918S	probably benign	Het
Nbea	T	C	3: 55,989,869 (GRCm39)	N329S	possibly damaging	Het
Or13p10	A	T	4: 118,523,609 (GRCm39)	K298N	probably benign	Het
Or51k2	G	A	7: 103,596,531 (GRCm39)	V253M	probably damaging	Het
Or5b120	A	T	19: 13,480,177 (GRCm39)	I157F	probably damaging	Het
Or6k14	G	A	1: 173,927,405 (GRCm39)	C127Y	probably damaging	Het
Pik3c3	A	G	18: 30,449,954 (GRCm39)	E589G	probably benign	Het
Plb1	A	T	5: 32,490,808 (GRCm39)	D1035V	probably damaging	Het
Plekhg1	G	T	10: 3,907,373 (GRCm39)	M763I	probably benign	Het
Poc5	A	G	13: 96,531,003 (GRCm39)	N67S	probably benign	Het
Psmd13	T	A	7: 140,470,522 (GRCm39)	W255R	probably damaging	Het
Rbm27	A	G	18: 42,459,004 (GRCm39)	Y735C	probably damaging	Het
Rhpn2	A	T	7: 35,075,594 (GRCm39)	N257I	possibly damaging	Het
Rilpl2	C	T	5: 124,607,843 (GRCm39)	E126K	probably damaging	Het
Rp1	G	A	1: 4,420,119 (GRCm39)	T331M	probably damaging	Het
Sh3pxd2a	A	G	19: 47,353,146 (GRCm39)	V105A	possibly damaging	Het
St8sia3	C	T	18: 64,398,452 (GRCm39)		probably benign	Het
Strbp	T	C	2: 37,493,975 (GRCm39)	D366G	probably null	Het
Tbx5	A	G	5: 120,009,462 (GRCm39)	T324A	probably benign	Het
Tex15	T	A	8: 34,064,917 (GRCm39)	I1449N	possibly damaging	Het
Tmtc3	C	T	10: 100,307,339 (GRCm39)	V222I	probably benign	Het
Top3b	T	C	16: 16,710,533 (GRCm39)	S788P	possibly damaging	Het
Tsc22d4	A	G	5: 137,756,785 (GRCm39)	D71G	probably benign	Het
Tubgcp4	T	A	2: 121,020,329 (GRCm39)	V434E	probably benign	Het
Ufsp1	A	G	5: 137,293,158 (GRCm39)	Y36C	possibly damaging	Het
Unc79	T	A	12: 103,091,962 (GRCm39)	H1956Q	possibly damaging	Het
Usp34	A	T	11: 23,389,011 (GRCm39)	N2217I	probably damaging	Het
Vmn2r112	A	T	17: 22,822,462 (GRCm39)	D380V	possibly damaging	Het
Vmn2r13	A	G	5: 109,322,938 (GRCm39)	I117T	probably benign	Het
Vmn2r53	A	G	7: 12,315,633 (GRCm39)	Y729H	probably damaging	Het
Wnt3a	A	T	11: 59,140,587 (GRCm39)	L310M	probably damaging	Het
Zc3h7a	T	C	16: 10,976,831 (GRCm39)	Q155R	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
IGL03211:Slc9a9	APN	9	95,020,043 (GRCm39)	splice site	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- ACTATATGGATACCATGGGATTGGG -3'
(R):5'- GGGGTCATTCAGCTTAAGCAC -3'

Sequencing Primer
(F):5'- ATACCATGGGATTGGGGCTGG -3'
(R):5'- GGGGTCATTCAGCTTAAGCACATTTC -3'

Posted On

2018-07-24