Mutagenetix > Incidental Mutation

Incidental Mutation 'R5590:Slc9a1'

437416

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

043143-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5590 (G1)

Quality Score

133

Status

Validated

Chromosome

Chromosomal Location

133097022-133151013 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 133148874 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 704 (R704H)

Ref Sequence

ENSEMBL: ENSMUSP00000030669 (fasta)

Gene Model

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

AlphaFold

Q61165

Predicted Effect

probably damaging
Transcript: ENSMUST00000030669
AA Change: R704H

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000030669
Gene: ENSMUSG00000028854
AA Change: R704H

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: ENSMUST00000132864

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141658

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156079

Meta Mutation Damage Score

0.0855

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.2%

Validation Efficiency

100% (108/108)

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: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3100002H09Rik	T	G	4: 124,504,280 (GRCm39)	M91L	unknown	Het
A2m	C	T	6: 121,653,891 (GRCm39)	T1408M	probably damaging	Het
Abca16	C	T	7: 120,143,995 (GRCm39)	T1671M	probably damaging	Het
Adamts8	A	T	9: 30,862,632 (GRCm39)	N279I	probably damaging	Het
Adgre1	T	A	17: 57,752,034 (GRCm39)	I594N	probably damaging	Het
Aldh4a1	T	A	4: 139,369,415 (GRCm39)	V322E	probably damaging	Het
Atp12a	A	T	14: 56,610,837 (GRCm39)	Y327F	probably benign	Het
C4b	T	C	17: 34,959,309 (GRCm39)	T422A	probably damaging	Het
Cacna1c	A	T	6: 118,664,143 (GRCm39)	S668T	probably damaging	Het
Cchcr1	A	T	17: 35,837,577 (GRCm39)	E426D	probably damaging	Het
Ccr3	G	A	9: 123,828,830 (GRCm39)	G55D	probably damaging	Het
Cdipt	T	A	7: 126,578,704 (GRCm39)		probably null	Het
Cep19	A	G	16: 31,922,716 (GRCm39)		probably benign	Het
Cts6	T	A	13: 61,349,626 (GRCm39)	M56L	probably benign	Het
Cyp3a11	C	A	5: 145,802,787 (GRCm39)	M235I	probably benign	Het
Dnajc21	A	T	15: 10,462,363 (GRCm39)	D87E	possibly damaging	Het
Ell	A	C	8: 70,992,357 (GRCm39)	M1L	possibly damaging	Het
Esyt3	T	C	9: 99,240,466 (GRCm39)		probably benign	Het
Ets1	T	C	9: 32,640,094 (GRCm39)		probably benign	Het
Fam222b	T	A	11: 78,045,858 (GRCm39)	M473K	probably benign	Het
Fanca	T	C	8: 124,030,702 (GRCm39)		probably benign	Het
Fbrsl1	G	T	5: 110,529,484 (GRCm39)	A67D	probably damaging	Het
Fchsd1	G	A	18: 38,094,380 (GRCm39)	P622L	probably damaging	Het
Gal3st2c	T	G	1: 93,936,023 (GRCm39)		probably null	Het
Gins2	T	G	8: 121,308,486 (GRCm39)	H166P	possibly damaging	Het
Gm10118	A	T	10: 63,762,845 (GRCm39)		probably benign	Het
Gm9979	A	T	13: 40,859,289 (GRCm39)		noncoding transcript	Het
Hspbap1	A	G	16: 35,622,033 (GRCm39)	Y126C	probably damaging	Het
Hspd1	A	T	1: 55,123,928 (GRCm39)	I64N	probably damaging	Het
Igkv3-4	A	T	6: 70,649,267 (GRCm39)	S89C	probably damaging	Het
Il10ra	T	A	9: 45,176,924 (GRCm39)	K134*	probably null	Het
Il12rb1	G	A	8: 71,266,411 (GRCm39)	C252Y	possibly damaging	Het
Il24	A	T	1: 130,810,253 (GRCm39)	V201E	possibly damaging	Het
Inpp1	A	G	1: 52,833,820 (GRCm39)	I92T	probably damaging	Het
Kcnh5	T	C	12: 75,023,463 (GRCm39)	D535G	probably benign	Het
Kcnq4	T	A	4: 120,573,082 (GRCm39)	I240F	probably damaging	Het
Kctd17	G	A	15: 78,321,502 (GRCm39)		probably benign	Het
Leo1	T	A	9: 75,364,423 (GRCm39)	I521N	possibly damaging	Het
Mdga1	A	G	17: 30,058,841 (GRCm39)	L722P	probably damaging	Het
Met	G	T	6: 17,548,781 (GRCm39)	V942L	probably benign	Het
Mfn1	A	T	3: 32,617,996 (GRCm39)	T110S	probably benign	Het
Mrps15	T	C	4: 125,942,488 (GRCm39)	I79T	probably benign	Het
Mycbp2	A	C	14: 103,360,791 (GRCm39)	M4497R	probably damaging	Het
Mylk	T	A	16: 34,699,722 (GRCm39)	S362T	probably benign	Het
Mypn	A	G	10: 62,955,827 (GRCm39)	F1209L	probably benign	Het
Nab2	T	C	10: 127,500,526 (GRCm39)	S189G	probably damaging	Het
Naxe	A	C	3: 87,963,840 (GRCm39)		probably null	Het
Ncf1	A	G	5: 134,252,355 (GRCm39)	V232A	probably damaging	Het
Nell1	A	G	7: 49,929,359 (GRCm39)	Y422C	probably damaging	Het
Nmnat2	G	T	1: 152,969,807 (GRCm39)	G176V	probably damaging	Het
Npr1	A	G	3: 90,362,149 (GRCm39)	S999P	probably damaging	Het
Nuak1	T	C	10: 84,211,119 (GRCm39)	D323G	probably benign	Het
Or4d10b	A	G	19: 12,036,642 (GRCm39)	V158A	probably benign	Het
Or5h23	A	G	16: 58,906,360 (GRCm39)	F162S	probably benign	Het
Or8b3b	T	A	9: 38,584,261 (GRCm39)	T160S	probably damaging	Het
Osbpl8	T	C	10: 111,108,029 (GRCm39)	S342P	probably damaging	Het
Pag1	A	T	3: 9,764,482 (GRCm39)	Y224N	probably damaging	Het
Pald1	T	A	10: 61,179,489 (GRCm39)	H460L	probably damaging	Het
Per2	G	A	1: 91,355,578 (GRCm39)	Q727*	probably null	Het
Pex19	T	C	1: 171,960,779 (GRCm39)	V134A	probably benign	Het
Phlpp1	A	T	1: 106,320,657 (GRCm39)	I1551F	possibly damaging	Het
Ppef2	A	T	5: 92,386,998 (GRCm39)	V313D	probably damaging	Het
Prorp	T	C	12: 55,351,257 (GRCm39)	S189P	possibly damaging	Het
Pzp	A	C	6: 128,500,759 (GRCm39)	F153C	probably damaging	Het
Rasl11a	A	G	5: 146,782,052 (GRCm39)	H9R	probably benign	Het
Rfx3	A	T	19: 27,779,780 (GRCm39)		probably null	Het
Rmnd5b	A	T	11: 51,518,789 (GRCm39)	I68N	probably damaging	Het
Senp5	T	A	16: 31,808,331 (GRCm39)	S281C	probably damaging	Het
Sh3rf1	G	A	8: 61,814,766 (GRCm39)	E442K	probably benign	Het
Slc12a3	G	A	8: 95,072,416 (GRCm39)	V645M	probably damaging	Het
Slc22a16	T	C	10: 40,457,337 (GRCm39)	F193L	possibly damaging	Het
Slc35f1	A	T	10: 52,984,274 (GRCm39)	T345S	possibly damaging	Het
Spta1	A	T	1: 174,003,336 (GRCm39)	Y89F	possibly damaging	Het
Sspo	A	G	6: 48,451,425 (GRCm39)	E2741G	probably damaging	Het
Strn4	G	A	7: 16,567,799 (GRCm39)		probably null	Het
Tanc2	A	G	11: 105,814,132 (GRCm39)	T1859A	probably damaging	Het
Tbc1d14	A	T	5: 36,682,389 (GRCm39)	Y3N	probably damaging	Het
Tdrd9	C	A	12: 112,018,414 (GRCm39)	R1278S	probably benign	Het
Tenm4	C	A	7: 96,446,608 (GRCm39)	A826E	possibly damaging	Het
Tenm4	G	T	7: 96,446,607 (GRCm39)	A826S	possibly damaging	Het
Tet2	C	T	3: 133,182,241 (GRCm39)		probably null	Het
Tfec	A	G	6: 16,834,199 (GRCm39)	L236P	probably benign	Het
Tjap1	A	G	17: 46,569,797 (GRCm39)	S388P	probably damaging	Het
Tle1	T	C	4: 72,043,208 (GRCm39)	T554A	possibly damaging	Het
Tmem17	G	A	11: 22,467,450 (GRCm39)	V83I	probably benign	Het
Tnrc6b	C	T	15: 80,760,703 (GRCm39)	H137Y	probably damaging	Het
Tomm5	T	C	4: 45,106,679 (GRCm39)		probably benign	Het
Top3b	T	A	16: 16,709,441 (GRCm39)		probably benign	Het
Tph1	T	C	7: 46,303,216 (GRCm39)	H254R	probably damaging	Het
Tpte	T	C	8: 22,841,468 (GRCm39)	Y487H	probably damaging	Het
Trappc13	T	A	13: 104,284,749 (GRCm39)	D241V	probably damaging	Het
Trrap	A	G	5: 144,719,075 (GRCm39)	I193V	probably benign	Het
Tspear	A	T	10: 77,706,199 (GRCm39)	H323L	probably benign	Het
Ttc39a	A	T	4: 109,290,184 (GRCm39)		probably null	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Tubg1	A	G	11: 101,014,858 (GRCm39)	D200G	probably damaging	Het
Ugdh	C	A	5: 65,580,217 (GRCm39)		probably benign	Het
Uso1	A	G	5: 92,328,467 (GRCm39)	N355D	probably benign	Het
Vamp4	T	C	1: 162,420,248 (GRCm39)		probably null	Het
Vmn2r5	T	C	3: 64,411,497 (GRCm39)	D357G	probably damaging	Het
Vps52	A	G	17: 34,180,195 (GRCm39)	T300A	probably benign	Het
Wt1	A	T	2: 104,957,629 (GRCm39)	H163L	probably damaging	Het
Xirp2	T	C	2: 67,344,379 (GRCm39)	S2207P	probably benign	Het
Xpo6	A	T	7: 125,706,250 (GRCm39)	I30N	probably damaging	Het
Zfp386	T	A	12: 116,023,347 (GRCm39)	I320K	probably benign	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
R1110: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
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'- AAGCTAGCACGGCTTTCTG -3'
(R):5'- GTGTCACAGCTCCATCACAG -3'

Sequencing Primer
(F):5'- CTTTCTGGGAGCCTGGGACAAG -3'
(R):5'- GTCCCCATCCTGAACCCAG -3'

Posted On

2016-10-26