Mutagenetix > Incidental Mutation

Incidental Mutation 'R1110:Slc9a1'

96587

Institutional Source

Beutler Lab

Gene Symbol

Slc9a1

Ensembl Gene

ENSMUSG00000028854

Gene Name

solute carrier family 9 (sodium/hydrogen exchanger), member 1

Synonyms

Nhe-1, Nhe1, antiporter, Apnh

MMRRC Submission

039183-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1110 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

133097022-133151013 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 133097859 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 2 (M2K)

Ref Sequence

ENSEMBL: ENSMUSP00000030669 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030669]

AlphaFold

Q61165

Predicted Effect

probably benign
Transcript: ENSMUST00000030669
AA Change: M2K

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000030669
Gene: ENSMUSG00000028854
AA Change: M2K

Domain	Start	End	E-Value	Type
transmembrane domain	15	33	N/A	INTRINSIC
Pfam:Na_H_Exchanger	109	509	1.3e-89	PFAM
Pfam:NEXCaM_BD	603	704	1.5e-34	PFAM
low complexity region	757	764	N/A	INTRINSIC
low complexity region	803	814	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140681

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175004

Meta Mutation Damage Score

0.2835

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 94.3%

Validation Efficiency

97% (63/65)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a Na+/H+ antiporter that is a member of the solute carrier family 9. The encoded protein is a plasma membrane transporter that is expressed in the kidney and intestine. This protein plays a central role in regulating pH homeostasis, cell migration and cell volume. This protein may also be involved in tumor growth. [provided by RefSeq, Sep 2011]
PHENOTYPE: Two-thirds of homozygous null mice die before weaning with reduced body weight, ataxia, a relatively mild stomach phenotype, and a postmortem appearance suggestive of death by a convulsive seizure. Homozygotes also display impaired fluid secretion and NaCl absorption in their parotid glands. [provided by MGI curators]

Allele List at MGI

All alleles(10) : Targeted, knock-out(1) Targeted, other(2) Gene trapped(6) Spontaneous(1)

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap3	T	A	4: 155,989,856 (GRCm39)		probably null	Het
Acp2	A	G	2: 91,038,767 (GRCm39)		probably null	Het
Akap13	T	G	7: 75,261,125 (GRCm39)	S447A	possibly damaging	Het
Alk	G	A	17: 72,291,740 (GRCm39)		probably benign	Het
Arhgef39	T	C	4: 43,496,834 (GRCm39)	T327A	probably benign	Het
Calhm5	T	G	10: 33,972,013 (GRCm39)	I141L	probably benign	Het
Cdan1	G	A	2: 120,551,083 (GRCm39)	A1103V	probably damaging	Het
Cdh18	A	G	15: 23,474,403 (GRCm39)	T758A	probably benign	Het
Cdk17	T	A	10: 93,074,895 (GRCm39)	Y3*	probably null	Het
Cdon	T	C	9: 35,367,733 (GRCm39)		probably benign	Het
Cntn3	T	A	6: 102,222,119 (GRCm39)	N460I	probably benign	Het
Cntrl	T	A	2: 35,050,639 (GRCm39)	C985S	possibly damaging	Het
Col6a2	T	C	10: 76,443,574 (GRCm39)	E497G	probably benign	Het
Crybg1	A	G	10: 43,875,089 (GRCm39)	M673T	possibly damaging	Het
Cyp2u1	A	G	3: 131,087,258 (GRCm39)	I441T	possibly damaging	Het
Disp2	T	C	2: 118,620,920 (GRCm39)	S551P	probably damaging	Het
Dock2	A	T	11: 34,206,535 (GRCm39)	F1354I	possibly damaging	Het
Dstyk	A	G	1: 132,381,063 (GRCm39)		probably benign	Het
Dzip1	T	C	14: 119,126,717 (GRCm39)	N527S	probably benign	Het
Eomes	A	G	9: 118,313,667 (GRCm39)	I571V	probably benign	Het
Fbxl13	T	C	5: 21,689,034 (GRCm39)	D758G	probably benign	Het
Frem1	T	C	4: 82,868,557 (GRCm39)	S1457G	probably damaging	Het
Gabbr2	C	T	4: 46,718,838 (GRCm39)	C613Y	probably damaging	Het
Gm9755	A	T	8: 67,967,710 (GRCm39)		noncoding transcript	Het
Hnrnpul2	A	G	19: 8,804,110 (GRCm39)	R570G	probably damaging	Het
Ift70a1	A	T	2: 75,810,320 (GRCm39)	C588S	probably damaging	Het
Igdcc4	A	G	9: 65,034,208 (GRCm39)	H674R	possibly damaging	Het
Kdm5d	T	A	Y: 910,539 (GRCm39)	L250H	probably damaging	Het
Kif1a	T	C	1: 92,951,175 (GRCm39)		probably benign	Het
Kmt2c	T	C	5: 25,519,360 (GRCm39)	N2250S	probably benign	Het
Kmt2e	C	T	5: 23,707,653 (GRCm39)	H1739Y	probably damaging	Het
Lmtk3	T	A	7: 45,444,427 (GRCm39)		probably benign	Het
Lpin3	A	G	2: 160,735,999 (GRCm39)	D93G	probably benign	Het
Myh10	T	C	11: 68,682,676 (GRCm39)		probably benign	Het
Myom2	G	A	8: 15,172,413 (GRCm39)	E1171K	probably benign	Het
Ncoa6	A	T	2: 155,253,440 (GRCm39)		probably benign	Het
Nup160	A	G	2: 90,563,563 (GRCm39)		probably benign	Het
Oit3	G	A	10: 59,264,016 (GRCm39)	R373C	probably damaging	Het
Olfml2a	A	T	2: 38,849,765 (GRCm39)	I494L	probably damaging	Het
Or11g27	T	C	14: 50,771,159 (GRCm39)	S97P	possibly damaging	Het
Or9r7	A	G	10: 129,962,522 (GRCm39)	Y135H	probably damaging	Het
Parp6	G	T	9: 59,556,847 (GRCm39)	C584F	probably damaging	Het
Pcgf2	A	G	11: 97,582,676 (GRCm39)		probably benign	Het
Pde3a	T	C	6: 141,405,042 (GRCm39)		probably benign	Het
Pibf1	C	T	14: 99,350,409 (GRCm39)	R186C	probably damaging	Het
Pitrm1	A	G	13: 6,608,280 (GRCm39)	D335G	probably benign	Het
Pkp4	T	C	2: 59,169,109 (GRCm39)	L752P	probably damaging	Het
Plcb3	C	A	19: 6,939,281 (GRCm39)	E566*	probably null	Het
Prune2	T	C	19: 17,102,586 (GRCm39)	S2582P	probably benign	Het
Reln	A	T	5: 22,239,773 (GRCm39)	D831E	probably benign	Het
Samd9l	T	A	6: 3,374,267 (GRCm39)	D998V	probably benign	Het
Sardh	G	A	2: 27,081,931 (GRCm39)	T865I	possibly damaging	Het
Setbp1	G	A	18: 78,901,075 (GRCm39)	T864I	probably damaging	Het
Sorbs2	A	G	8: 46,248,767 (GRCm39)	T593A	probably benign	Het
Spata31e3	A	T	13: 50,402,296 (GRCm39)	D83E	possibly damaging	Het
Svs5	A	T	2: 164,175,507 (GRCm39)	I120L	probably benign	Het
Tcl1b1	G	T	12: 105,126,074 (GRCm39)	V19F	probably damaging	Het
Urgcp	T	C	11: 5,666,004 (GRCm39)	N778S	probably benign	Het
Vnn1	A	T	10: 23,775,499 (GRCm39)	I250F	possibly damaging	Het
Xntrpc	A	G	7: 101,732,181 (GRCm39)	R365G	possibly damaging	Het
Zfp84	T	A	7: 29,470,797 (GRCm39)	M1K	probably null	Het
Zfyve26	G	A	12: 79,326,841 (GRCm39)	R761C	probably damaging	Het
Zp3r	A	G	1: 130,505,621 (GRCm39)		probably null	Het

Other mutations in Slc9a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00905:Slc9a1	APN	4	133,097,859 (GRCm39)	missense	probably benign	0.03
IGL00949:Slc9a1	APN	4	133,143,762 (GRCm39)	missense	probably benign	0.03
IGL00952:Slc9a1	APN	4	133,143,693 (GRCm39)	missense	probably damaging	0.99
IGL01023:Slc9a1	APN	4	133,149,454 (GRCm39)	missense	probably benign	0.04
IGL01151:Slc9a1	APN	4	133,139,300 (GRCm39)	missense	probably damaging	1.00
IGL01796:Slc9a1	APN	4	133,147,404 (GRCm39)	splice site	probably benign
IGL01896:Slc9a1	APN	4	133,145,370 (GRCm39)	missense	probably damaging	1.00
IGL02621:Slc9a1	APN	4	133,097,879 (GRCm39)	missense	probably benign
F6893:Slc9a1	UTSW	4	133,149,457 (GRCm39)	missense	probably benign	0.06
R0123:Slc9a1	UTSW	4	133,147,916 (GRCm39)	missense	probably benign	0.34
R0134:Slc9a1	UTSW	4	133,147,916 (GRCm39)	missense	probably benign	0.34
R0225:Slc9a1	UTSW	4	133,147,916 (GRCm39)	missense	probably benign	0.34
R0658:Slc9a1	UTSW	4	133,147,810 (GRCm39)	splice site	probably benign
R0759:Slc9a1	UTSW	4	133,143,714 (GRCm39)	missense	probably damaging	1.00
R0781:Slc9a1	UTSW	4	133,097,859 (GRCm39)	missense	probably benign	0.03
R1316:Slc9a1	UTSW	4	133,149,558 (GRCm39)	missense	possibly damaging	0.95
R1637:Slc9a1	UTSW	4	133,149,534 (GRCm39)	missense	probably benign
R1680:Slc9a1	UTSW	4	133,145,391 (GRCm39)	missense	probably damaging	1.00
R2050:Slc9a1	UTSW	4	133,143,645 (GRCm39)	missense	probably benign	0.02
R4279:Slc9a1	UTSW	4	133,139,400 (GRCm39)	missense	probably benign	0.31
R4960:Slc9a1	UTSW	4	133,097,967 (GRCm39)	missense	probably damaging	1.00
R5381:Slc9a1	UTSW	4	133,149,382 (GRCm39)	missense	probably damaging	0.96
R5590:Slc9a1	UTSW	4	133,148,874 (GRCm39)	missense	probably damaging	0.99
R5638:Slc9a1	UTSW	4	133,139,571 (GRCm39)	missense	probably damaging	1.00
R5935:Slc9a1	UTSW	4	133,147,176 (GRCm39)	intron	probably benign
R6334:Slc9a1	UTSW	4	133,149,519 (GRCm39)	missense	possibly damaging	0.64
R6402:Slc9a1	UTSW	4	133,097,962 (GRCm39)	missense	probably benign	0.37
R7553:Slc9a1	UTSW	4	133,139,580 (GRCm39)	missense	probably damaging	1.00
R7772:Slc9a1	UTSW	4	133,139,276 (GRCm39)	missense	probably damaging	1.00
R7843:Slc9a1	UTSW	4	133,097,753 (GRCm39)	start gained	probably benign
R8268:Slc9a1	UTSW	4	133,097,934 (GRCm39)	missense	probably benign	0.08
R8359:Slc9a1	UTSW	4	133,147,927 (GRCm39)	missense	probably damaging	1.00
R8398:Slc9a1	UTSW	4	133,146,814 (GRCm39)	missense	probably benign	0.05
R8887:Slc9a1	UTSW	4	133,139,258 (GRCm39)	missense	probably benign
R9310:Slc9a1	UTSW	4	133,143,681 (GRCm39)	missense	probably damaging	1.00
X0018:Slc9a1	UTSW	4	133,145,382 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AGGACGCAGTTTCCCCGATTTC -3'
(R):5'- AGATGGCTTACCGCCATGTTCAATG -3'

Sequencing Primer
(F):5'- CTCAGCCTGAAGTTCTAGATCC -3'
(R):5'- TGGTGACATCCCCAATTGAG -3'

Posted On

2014-01-05