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

Apnh, Nhe1, antiporter

MMRRC Submission

042557-MU

Accession Numbers

Genbank: NM_016981; MGI: 102462

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4960 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

133369706-133423702 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 133370656 bp (GRCm38)

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
4931428F04Rik	G	T	8: 105,283,211	R369S	probably damaging	Het
Abcc9	A	T	6: 142,620,783		probably null	Het
Adamts20	T	C	15: 94,379,774	H269R	probably benign	Het
Adamtsl1	C	T	4: 86,424,173	Q1642*	probably null	Het
Adamtsl3	A	C	7: 82,566,977	T863P	probably damaging	Het
Adcy3	G	T	12: 4,134,896	V191L	probably benign	Het
Akap9	G	T	5: 3,957,664	R244L	probably benign	Het
Als2cr12	T	A	1: 58,667,806	E234V	probably damaging	Het
Anapc1	C	T	2: 128,684,594	V95M	probably benign	Het
Arhgap17	G	T	7: 123,286,926		probably benign	Het
Arntl	T	A	7: 113,299,435		probably null	Het
Art2b	T	A	7: 101,580,230	Y154F	probably damaging	Het
Atrn	C	T	2: 130,995,047	R1144*	probably null	Het
Atxn3	T	C	12: 101,948,379	S29G	possibly damaging	Het
Batf3	C	T	1: 191,098,510	P18S	probably benign	Het
Bmpr1b	A	T	3: 141,870,785	C96S	probably damaging	Het
Bola1	A	G	3: 96,197,054	S75P	probably benign	Het
Btbd11	A	C	10: 85,651,662	N998T	probably benign	Het
Cela3a	G	A	4: 137,402,648	R221*	probably null	Het
Chat	A	G	14: 32,420,814	V406A	possibly damaging	Het
Chd1	T	A	17: 15,742,231	M750K	probably damaging	Het
Clip1	T	A	5: 123,654,003	K35*	probably null	Het
Cnr2	G	A	4: 135,917,607	G332D	probably benign	Het
Cnrip1	A	G	11: 17,052,228	D20G	probably damaging	Het
Col2a1	T	C	15: 97,976,149	Y1384C	unknown	Het
Col6a3	T	A	1: 90,804,218	I831F	probably damaging	Het
Cp	G	A	3: 19,973,797	V456I	probably damaging	Het
Cspp1	T	A	1: 10,126,463	N900K	probably damaging	Het
Ctbp2	T	C	7: 133,014,238	I323V	probably benign	Het
Ctnna2	C	T	6: 77,653,111	R120H	probably damaging	Het
Cyp2a12	A	G	7: 27,034,150	H318R	probably benign	Het
Cyp2c66	A	T	19: 39,163,322		probably null	Het
Cyp2j8	T	C	4: 96,507,377	T4A	probably benign	Het
Cyp4v3	A	G	8: 45,320,637	V165A	possibly damaging	Het
D5Ertd579e	G	A	5: 36,616,227	R275*	probably null	Het
Deup1	G	T	9: 15,600,968	Q160K	possibly damaging	Het
Dhx36	A	T	3: 62,496,859	I221K	probably damaging	Het
Dnah7b	T	A	1: 46,233,726	M2338K	probably benign	Het
Dync2li1	T	G	17: 84,633,541	L62V	probably benign	Het
Ephb3	A	G	16: 21,220,495	K367R	probably benign	Het
Etv3	A	G	3: 87,528,061	K80E	probably damaging	Het
Gdap1l1	T	C	2: 163,453,859	F346L	probably benign	Het
Gm12794	T	C	4: 101,941,464	Y211H	probably benign	Het
Gm4787	C	T	12: 81,379,316	V23M	probably damaging	Het
Greb1l	T	A	18: 10,547,306	I1508N	probably damaging	Het
Heatr5b	G	A	17: 78,831,584	T43I	probably benign	Het
Hephl1	T	C	9: 15,086,290	Y360C	probably damaging	Het
Itgam	A	C	7: 128,115,840	T865P	possibly damaging	Het
Kcnma1	T	C	14: 24,004,118		probably benign	Het
Kidins220	T	A	12: 24,992,260	C185*	probably null	Het
Klhl35	G	T	7: 99,469,068	G273V	probably damaging	Het
Lama5	A	G	2: 180,208,252		probably null	Het
Lamc3	A	G	2: 31,915,954	Q689R	probably benign	Het
Lnx2	C	T	5: 147,019,040	V649I	probably benign	Het
Lrrc43	A	G	5: 123,499,612	I281V	probably benign	Het
Ly6g6d	C	A	17: 35,071,754	A67S	probably benign	Het
Map1b	A	G	13: 99,432,212	S1334P	probably benign	Het
Marc2	T	A	1: 184,833,919	M186L	probably benign	Het
Mast1	T	A	8: 84,917,871	T810S	probably benign	Het
Mbnl1	A	G	3: 60,595,696	M1V	probably null	Het
Mc5r	T	G	18: 68,338,819	M83R	possibly damaging	Het
Mkln1	T	C	6: 31,459,006	F300S	probably damaging	Het
Mrgpre	A	T	7: 143,781,351	C138*	probably null	Het
Ncbp1	C	T	4: 46,165,273	Q529*	probably null	Het
Nrcam	A	G	12: 44,566,299	D591G	probably benign	Het
Nrxn3	A	T	12: 88,795,201	H6L	possibly damaging	Het
Nsmaf	T	A	4: 6,423,342	D342V	probably damaging	Het
Oip5	TGAGAAA	T	2: 119,617,861		probably benign	Het
Olfr1318	A	G	2: 112,156,352	T134A	probably benign	Het
Olfr202	A	G	16: 59,283,985	S171P	probably benign	Het
Olfr459	C	A	6: 41,772,069	V77F	probably damaging	Het
Olfr667	A	G	7: 104,916,708	I196T	probably benign	Het
Olfr794	A	C	10: 129,571,026	I124L	probably damaging	Het
Omt2a	T	A	9: 78,313,023	E31D	possibly damaging	Het
Phyhipl	A	G	10: 70,568,985	V131A	probably benign	Het
Pik3r5	A	G	11: 68,493,638	M619V	probably benign	Het
Ptprg	A	T	14: 12,237,837	E1431D	probably benign	Het
Rnf20	A	G	4: 49,638,029	T85A	probably damaging	Het
Rtn3	A	T	19: 7,456,521	I683K	probably damaging	Het
Rwdd3	A	G	3: 121,158,821	F174L	probably damaging	Het
Ryr1	T	C	7: 29,078,783	Q2096R	possibly damaging	Het
Scrn1	T	C	6: 54,534,422	D111G	probably damaging	Het
Sema3e	A	G	5: 14,252,632	R724G	possibly damaging	Het
She	A	G	3: 89,834,237	M232V	possibly damaging	Het
Slc25a54	A	T	3: 109,112,816	N382I	possibly damaging	Het
Slc26a2	T	C	18: 61,198,803	M519V	probably damaging	Het
Slc9a3r1	A	G	11: 115,176,463	D180G	probably benign	Het
Snap47	A	T	11: 59,428,543	D256E	probably damaging	Het
Tacc3	A	G	5: 33,671,982	T610A	probably benign	Het
Tbc1d30	G	A	10: 121,267,216	T637M	probably benign	Het
Tbcd	T	A	11: 121,573,855	M572K	probably benign	Het
Thoc7	A	T	14: 13,953,460	D68E	probably benign	Het
Tmpo	G	A	10: 91,153,309	T250M	probably damaging	Het
Tmtc1	TGTCCGCCAGGCCCTTGCCCCAGAAGTC	TGTC	6: 148,443,947		probably benign	Het
Tnfaip1	A	T	11: 78,527,570	C224S	possibly damaging	Het
Tshz1	T	C	18: 84,014,862	T474A	probably benign	Het
Tspoap1	C	T	11: 87,766,396	Q345*	probably null	Het
Ttc21a	A	G	9: 119,945,001	E258G	possibly damaging	Het
Ttc37	T	A	13: 76,185,156	V1508E	possibly damaging	Het
Ttyh1	T	C	7: 4,128,226	L232P	probably damaging	Het
Usp2	T	A	9: 44,075,813	L136Q	probably damaging	Het
Usp31	T	C	7: 121,648,645	S1192G	probably damaging	Het

Other mutations in Slc9a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00905:Slc9a1	APN	4	133370548	missense	probably benign	0.03
IGL00949:Slc9a1	APN	4	133416451	missense	probably benign	0.03
IGL00952:Slc9a1	APN	4	133416382	missense	probably damaging	0.99
IGL01023:Slc9a1	APN	4	133422143	missense	probably benign	0.04
IGL01151:Slc9a1	APN	4	133411989	missense	probably damaging	1.00
IGL01796:Slc9a1	APN	4	133420093	splice site	probably benign
IGL01896:Slc9a1	APN	4	133418059	missense	probably damaging	1.00
IGL02621:Slc9a1	APN	4	133370568	missense	probably benign
F6893:Slc9a1	UTSW	4	133422146	missense	probably benign	0.06
R0123:Slc9a1	UTSW	4	133420605	missense	probably benign	0.34
R0134:Slc9a1	UTSW	4	133420605	missense	probably benign	0.34
R0225:Slc9a1	UTSW	4	133420605	missense	probably benign	0.34
R0658:Slc9a1	UTSW	4	133420499	splice site	probably benign
R0759:Slc9a1	UTSW	4	133416403	missense	probably damaging	1.00
R0781:Slc9a1	UTSW	4	133370548	missense	probably benign	0.03
R1110:Slc9a1	UTSW	4	133370548	missense	probably benign	0.03
R1316:Slc9a1	UTSW	4	133422247	missense	possibly damaging	0.95
R1637:Slc9a1	UTSW	4	133422223	missense	probably benign
R1680:Slc9a1	UTSW	4	133418080	missense	probably damaging	1.00
R2050:Slc9a1	UTSW	4	133416334	missense	probably benign	0.02
R4279:Slc9a1	UTSW	4	133412089	missense	probably benign	0.31
R5381:Slc9a1	UTSW	4	133422071	missense	probably damaging	0.96
R5590:Slc9a1	UTSW	4	133421563	missense	probably damaging	0.99
R5638:Slc9a1	UTSW	4	133412260	missense	probably damaging	1.00
R5935:Slc9a1	UTSW	4	133419865	intron	probably benign
R6334:Slc9a1	UTSW	4	133422208	missense	possibly damaging	0.64
R6402:Slc9a1	UTSW	4	133370651	missense	probably benign	0.37
R7553:Slc9a1	UTSW	4	133412269	missense	probably damaging	1.00
R7772:Slc9a1	UTSW	4	133411965	missense	probably damaging	1.00
R7843:Slc9a1	UTSW	4	133370442	start gained	probably benign
R8268:Slc9a1	UTSW	4	133370623	missense	probably benign	0.08
R8359:Slc9a1	UTSW	4	133420616	missense	probably damaging	1.00
R8398:Slc9a1	UTSW	4	133419503	missense	probably benign	0.05
R8887:Slc9a1	UTSW	4	133411947	missense	probably benign
R9310:Slc9a1	UTSW	4	133416370	missense	probably damaging	1.00
X0018:Slc9a1	UTSW	4	133418071	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