Mutagenetix > Incidental Mutation

Incidental Mutation 'R4960:Slc9a1'

382254

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

042557-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4960 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

133097022-133151013 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 133097967 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 38 (L38H)

Ref Sequence

ENSEMBL: ENSMUSP00000030669 (fasta)

Gene Model

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

AlphaFold

Q61165

Predicted Effect

probably damaging
Transcript: ENSMUST00000030669
AA Change: L38H

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

SMART Domains

Protein: ENSMUSP00000030669
Gene: ENSMUSG00000028854
AA Change: L38H

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

Coding Region Coverage

1x: 99.3%
3x: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	A	T	6: 142,566,509 (GRCm39)		probably null	Het
Abtb3	A	C	10: 85,487,526 (GRCm39)	N998T	probably benign	Het
Adamts20	T	C	15: 94,277,655 (GRCm39)	H269R	probably benign	Het
Adamtsl1	C	T	4: 86,342,410 (GRCm39)	Q1642*	probably null	Het
Adamtsl3	A	C	7: 82,216,185 (GRCm39)	T863P	probably damaging	Het
Adcy3	G	T	12: 4,184,896 (GRCm39)	V191L	probably benign	Het
Akap9	G	T	5: 4,007,664 (GRCm39)	R244L	probably benign	Het
Anapc1	C	T	2: 128,526,514 (GRCm39)	V95M	probably benign	Het
Arhgap17	G	T	7: 122,886,149 (GRCm39)		probably benign	Het
Art2b	T	A	7: 101,229,437 (GRCm39)	Y154F	probably damaging	Het
Atrn	C	T	2: 130,836,967 (GRCm39)	R1144*	probably null	Het
Atxn3	T	C	12: 101,914,638 (GRCm39)	S29G	possibly damaging	Het
Batf3	C	T	1: 190,830,707 (GRCm39)	P18S	probably benign	Het
Bmal1	T	A	7: 112,898,642 (GRCm39)		probably null	Het
Bmpr1b	A	T	3: 141,576,546 (GRCm39)	C96S	probably damaging	Het
Bola1	A	G	3: 96,104,370 (GRCm39)	S75P	probably benign	Het
Cela3a	G	A	4: 137,129,959 (GRCm39)	R221*	probably null	Het
Chat	A	G	14: 32,142,771 (GRCm39)	V406A	possibly damaging	Het
Chd1	T	A	17: 15,962,493 (GRCm39)	M750K	probably damaging	Het
Clip1	T	A	5: 123,792,066 (GRCm39)	K35*	probably null	Het
Cnr2	G	A	4: 135,644,918 (GRCm39)	G332D	probably benign	Het
Cnrip1	A	G	11: 17,002,228 (GRCm39)	D20G	probably damaging	Het
Col2a1	T	C	15: 97,874,030 (GRCm39)	Y1384C	unknown	Het
Col6a3	T	A	1: 90,731,940 (GRCm39)	I831F	probably damaging	Het
Cp	G	A	3: 20,027,961 (GRCm39)	V456I	probably damaging	Het
Cspp1	T	A	1: 10,196,688 (GRCm39)	N900K	probably damaging	Het
Ctbp2	T	C	7: 132,615,967 (GRCm39)	I323V	probably benign	Het
Ctnna2	C	T	6: 77,630,094 (GRCm39)	R120H	probably damaging	Het
Cyp2a12	A	G	7: 26,733,575 (GRCm39)	H318R	probably benign	Het
Cyp2c66	A	T	19: 39,151,766 (GRCm39)		probably null	Het
Cyp2j8	T	C	4: 96,395,614 (GRCm39)	T4A	probably benign	Het
Cyp4v3	A	G	8: 45,773,674 (GRCm39)	V165A	possibly damaging	Het
D5Ertd579e	G	A	5: 36,773,571 (GRCm39)	R275*	probably null	Het
Deup1	G	T	9: 15,512,264 (GRCm39)	Q160K	possibly damaging	Het
Dhx36	A	T	3: 62,404,280 (GRCm39)	I221K	probably damaging	Het
Dnah7b	T	A	1: 46,272,886 (GRCm39)	M2338K	probably benign	Het
Dync2li1	T	G	17: 84,940,969 (GRCm39)	L62V	probably benign	Het
Ephb3	A	G	16: 21,039,245 (GRCm39)	K367R	probably benign	Het
Etv3	A	G	3: 87,435,368 (GRCm39)	K80E	probably damaging	Het
Flacc1	T	A	1: 58,706,965 (GRCm39)	E234V	probably damaging	Het
Gdap1l1	T	C	2: 163,295,779 (GRCm39)	F346L	probably benign	Het
Gm4787	C	T	12: 81,426,090 (GRCm39)	V23M	probably damaging	Het
Greb1l	T	A	18: 10,547,306 (GRCm39)	I1508N	probably damaging	Het
Heatr5b	G	A	17: 79,139,013 (GRCm39)	T43I	probably benign	Het
Hephl1	T	C	9: 14,997,586 (GRCm39)	Y360C	probably damaging	Het
Itgam	A	C	7: 127,715,012 (GRCm39)	T865P	possibly damaging	Het
Kcnma1	T	C	14: 24,054,186 (GRCm39)		probably benign	Het
Kidins220	T	A	12: 25,042,259 (GRCm39)	C185*	probably null	Het
Klhl35	G	T	7: 99,118,275 (GRCm39)	G273V	probably damaging	Het
Lama5	A	G	2: 179,850,045 (GRCm39)		probably null	Het
Lamc3	A	G	2: 31,805,966 (GRCm39)	Q689R	probably benign	Het
Lnx2	C	T	5: 146,955,850 (GRCm39)	V649I	probably benign	Het
Lrrc43	A	G	5: 123,637,675 (GRCm39)	I281V	probably benign	Het
Ly6g6d	C	A	17: 35,290,730 (GRCm39)	A67S	probably benign	Het
Map1b	A	G	13: 99,568,720 (GRCm39)	S1334P	probably benign	Het
Mast1	T	A	8: 85,644,500 (GRCm39)	T810S	probably benign	Het
Matcap1	G	T	8: 106,009,843 (GRCm39)	R369S	probably damaging	Het
Mbnl1	A	G	3: 60,503,117 (GRCm39)	M1V	probably null	Het
Mc5r	T	G	18: 68,471,890 (GRCm39)	M83R	possibly damaging	Het
Mkln1	T	C	6: 31,435,941 (GRCm39)	F300S	probably damaging	Het
Mrgpre	A	T	7: 143,335,088 (GRCm39)	C138*	probably null	Het
Mtarc2	T	A	1: 184,566,116 (GRCm39)	M186L	probably benign	Het
Ncbp1	C	T	4: 46,165,273 (GRCm39)	Q529*	probably null	Het
Nherf1	A	G	11: 115,067,289 (GRCm39)	D180G	probably benign	Het
Nrcam	A	G	12: 44,613,082 (GRCm39)	D591G	probably benign	Het
Nrxn3	A	T	12: 88,761,971 (GRCm39)	H6L	possibly damaging	Het
Nsmaf	T	A	4: 6,423,342 (GRCm39)	D342V	probably damaging	Het
Oip5	TGAGAAA	T	2: 119,448,342 (GRCm39)		probably benign	Het
Omt2a	T	A	9: 78,220,305 (GRCm39)	E31D	possibly damaging	Het
Or4f62	A	G	2: 111,986,697 (GRCm39)	T134A	probably benign	Het
Or52n2b	A	G	7: 104,565,915 (GRCm39)	I196T	probably benign	Het
Or5ac20	A	G	16: 59,104,348 (GRCm39)	S171P	probably benign	Het
Or6c88	A	C	10: 129,406,895 (GRCm39)	I124L	probably damaging	Het
Or9a2	C	A	6: 41,749,003 (GRCm39)	V77F	probably damaging	Het
Phyhipl	A	G	10: 70,404,815 (GRCm39)	V131A	probably benign	Het
Pik3r5	A	G	11: 68,384,464 (GRCm39)	M619V	probably benign	Het
Pramel19	T	C	4: 101,798,661 (GRCm39)	Y211H	probably benign	Het
Ptprg	A	T	14: 12,237,837 (GRCm38)	E1431D	probably benign	Het
Rnf20	A	G	4: 49,638,029 (GRCm39)	T85A	probably damaging	Het
Rtn3	A	T	19: 7,433,886 (GRCm39)	I683K	probably damaging	Het
Rwdd3	A	G	3: 120,952,470 (GRCm39)	F174L	probably damaging	Het
Ryr1	T	C	7: 28,778,208 (GRCm39)	Q2096R	possibly damaging	Het
Scrn1	T	C	6: 54,511,407 (GRCm39)	D111G	probably damaging	Het
Sema3e	A	G	5: 14,302,646 (GRCm39)	R724G	possibly damaging	Het
She	A	G	3: 89,741,544 (GRCm39)	M232V	possibly damaging	Het
Skic3	T	A	13: 76,333,275 (GRCm39)	V1508E	possibly damaging	Het
Slc25a54	A	T	3: 109,020,132 (GRCm39)	N382I	possibly damaging	Het
Slc26a2	T	C	18: 61,331,875 (GRCm39)	M519V	probably damaging	Het
Snap47	A	T	11: 59,319,369 (GRCm39)	D256E	probably damaging	Het
Tacc3	A	G	5: 33,829,326 (GRCm39)	T610A	probably benign	Het
Tbc1d30	G	A	10: 121,103,121 (GRCm39)	T637M	probably benign	Het
Tbcd	T	A	11: 121,464,681 (GRCm39)	M572K	probably benign	Het
Thoc7	A	T	14: 13,953,460 (GRCm38)	D68E	probably benign	Het
Tmpo	G	A	10: 90,989,171 (GRCm39)	T250M	probably damaging	Het
Tmtc1	TGTCCGCCAGGCCCTTGCCCCAGAAGTC	TGTC	6: 148,345,445 (GRCm39)		probably benign	Het
Tnfaip1	A	T	11: 78,418,396 (GRCm39)	C224S	possibly damaging	Het
Tshz1	T	C	18: 84,032,987 (GRCm39)	T474A	probably benign	Het
Tspoap1	C	T	11: 87,657,222 (GRCm39)	Q345*	probably null	Het
Ttc21a	A	G	9: 119,774,067 (GRCm39)	E258G	possibly damaging	Het
Ttyh1	T	C	7: 4,131,225 (GRCm39)	L232P	probably damaging	Het
Usp2	T	A	9: 43,987,110 (GRCm39)	L136Q	probably damaging	Het
Usp31	T	C	7: 121,247,868 (GRCm39)	S1192G	probably damaging	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
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'- TAGAGATTGCCCCAGTCTCAC -3'
(R):5'- GGTAGTCAATGTCCAGGACTG -3'

Sequencing Primer
(F):5'- GCAGGACTCCTTGCTACCTATG -3'
(R):5'- AGGACTGGGAAGGCCTTC -3'

Posted On

2016-04-27