Mutagenetix > Incidental Mutation

Incidental Mutation 'R9683:Slc9a9'

728692

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9683 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

94551962-95112498 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 94552235 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Valine at position 41 (F41V)

Ref Sequence

ENSEMBL: ENSMUSP00000033463 (fasta)

Gene Model

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

AlphaFold

Q8BZ00

Predicted Effect

probably damaging
Transcript: ENSMUST00000033463
AA Change: F41V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000033463
Gene: ENSMUSG00000031129
AA Change: F41V

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: 99.9%
10x: 99.7%
20x: 99.1%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	C	T	3: 124,200,095 (GRCm39)	G499D	probably benign	Het
Acr	T	A	15: 89,457,440 (GRCm39)	Y229*	probably null	Het
Adam6b	G	T	12: 113,454,176 (GRCm39)	C331F	probably benign	Het
Ahnak	T	C	19: 8,984,719 (GRCm39)	V2001A	possibly damaging	Het
Ankrd11	C	T	8: 123,617,682 (GRCm39)	A2057T	probably benign	Het
Anln	A	T	9: 22,283,536 (GRCm39)	C432*	probably null	Het
Aox4	T	C	1: 58,278,462 (GRCm39)		probably null	Het
Astn1	A	G	1: 158,491,619 (GRCm39)	I1007V	possibly damaging	Het
Bicral	T	C	17: 47,122,944 (GRCm39)	D649G	possibly damaging	Het
C1qbp	G	A	11: 70,873,749 (GRCm39)	R10C	probably damaging	Het
Cass4	C	T	2: 172,268,656 (GRCm39)	P246L	probably damaging	Het
Celsr3	T	A	9: 108,704,522 (GRCm39)	V335E	probably damaging	Het
Cfap52	T	A	11: 67,822,639 (GRCm39)	T411S	probably benign	Het
Cnot6	A	T	11: 49,580,164 (GRCm39)	L43I	possibly damaging	Het
Col9a3	G	A	2: 180,248,322 (GRCm39)		probably null	Het
Dnah14	A	G	1: 181,426,509 (GRCm39)	R210G	probably benign	Het
Fat4	A	G	3: 38,943,332 (GRCm39)	S742G	possibly damaging	Het
Fbn2	C	T	18: 58,186,099 (GRCm39)	V1750M	probably benign	Het
Glrx2	A	G	1: 143,622,292 (GRCm39)	D96G	probably damaging	Het
Gm8369	T	C	19: 11,489,097 (GRCm39)	L128P	probably damaging	Het
Gpr155	A	G	2: 73,192,780 (GRCm39)	I585T	probably benign	Het
Heatr1	T	C	13: 12,449,140 (GRCm39)	S1907P	probably damaging	Het
Hscb	T	C	5: 110,983,881 (GRCm39)	T129A	possibly damaging	Het
Itgb5	T	A	16: 33,740,335 (GRCm39)	Y482N	probably damaging	Het
Kmt5b	T	A	19: 3,865,587 (GRCm39)	*884R	probably null	Het
L3mbtl1	A	T	2: 162,812,228 (GRCm39)	T758S	possibly damaging	Het
Mindy1	A	T	3: 95,202,176 (GRCm39)	H351L	probably benign	Het
Mmel1	A	T	4: 154,977,285 (GRCm39)	I552F	probably damaging	Het
Mos	T	C	4: 3,871,186 (GRCm39)	D210G	probably benign	Het
Npl	A	C	1: 153,421,030 (GRCm39)	I16S	possibly damaging	Het
Nutm2	C	A	13: 50,629,017 (GRCm39)	P694T	possibly damaging	Het
Or1e1c	G	A	11: 73,265,811 (GRCm39)	V82I	probably damaging	Het
Or52ae7	A	G	7: 103,119,157 (GRCm39)		probably benign	Het
Plekhg4	T	C	8: 106,102,923 (GRCm39)	F261L	probably benign	Het
Ppfia3	T	A	7: 45,005,999 (GRCm39)	N331I	probably benign	Het
Ppp1r12a	T	A	10: 108,096,747 (GRCm39)	S712R	possibly damaging	Het
Psg20	T	A	7: 18,416,508 (GRCm39)	K203*	probably null	Het
Recql	C	T	6: 142,305,646 (GRCm39)	R234Q		Het
Rerg	A	G	6: 137,033,252 (GRCm39)	F160S	probably damaging	Het
Rp1l1	A	G	14: 64,269,126 (GRCm39)	K1571E	probably damaging	Het
Rsrc1	T	A	3: 67,257,328 (GRCm39)	S247T	probably damaging	Het
Sacs	T	A	14: 61,450,881 (GRCm39)	I4309N	possibly damaging	Het
Setd7	A	T	3: 51,450,111 (GRCm39)	I105N	possibly damaging	Het
Sgk1	AAGA	AAGAGA	10: 21,868,290 (GRCm39)		probably null	Het
Siglec1	T	A	2: 130,921,236 (GRCm39)	H645L	probably damaging	Het
Slain1	A	T	14: 103,925,621 (GRCm39)	D323V	probably damaging	Het
Slc25a10	A	G	11: 120,386,312 (GRCm39)	N139D	probably damaging	Het
Spag9	A	C	11: 93,988,568 (GRCm39)	E879D	probably damaging	Het
Tdrd7	T	A	4: 46,025,946 (GRCm39)	L922Q	probably damaging	Het
Tiprl	A	G	1: 165,050,147 (GRCm39)	F156S	probably damaging	Het
Tmem185b	G	C	1: 119,454,748 (GRCm39)	V170L	probably damaging	Het
Top2a	G	A	11: 98,887,683 (GRCm39)	T1275I	probably benign	Het
Tpp1	A	G	7: 105,398,104 (GRCm39)	L353P	probably damaging	Het
Twnk	T	A	19: 44,998,622 (GRCm39)	H513Q	probably damaging	Het
Ubr5	C	T	15: 37,978,271 (GRCm39)	V2467I		Het
Vmn2r16	T	A	5: 109,511,677 (GRCm39)	I628N	probably damaging	Het
Zan	T	C	5: 137,462,776 (GRCm39)	E801G	unknown	Het
Zfp810	T	C	9: 22,189,799 (GRCm39)	R370G	possibly damaging	Het
Zfp955a	A	G	17: 33,461,587 (GRCm39)	S182P	probably benign	Het
Znrf3	T	C	11: 5,394,465 (GRCm39)	T72A	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
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
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'- AAATTCTGTGGGCGCCAGTC -3'
(R):5'- TCGCTGAGCTAATGACACTTC -3'

Sequencing Primer
(F):5'- TGGGCGCCAGTCTATCCTAG -3'
(R):5'- GCTGAGCTAATGACACTTCAATCAG -3'

Posted On

2022-10-06