Mutagenetix > Incidental Mutation

Incidental Mutation 'R9102:Slc9b1'

691739

Institutional Source

Beutler Lab

Gene Symbol

Slc9b1

Ensembl Gene

ENSMUSG00000050150

Gene Name

solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1

Synonyms

1700094G20Rik, 4933425K02Rik, 4933424B12Rik, Nhedc1

MMRRC Submission

068916-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R9102 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

135053790-135103588 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 135100725 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 490 (P490L)

Ref Sequence

ENSEMBL: ENSMUSP00000077644 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078568] [ENSMUST00000161417]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000078568
AA Change: P490L

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

SMART Domains

Protein: ENSMUSP00000077644
Gene: ENSMUSG00000050150
AA Change: P490L

Domain	Start	End	E-Value	Type
low complexity region	32	105	N/A	INTRINSIC
low complexity region	123	136	N/A	INTRINSIC
Pfam:Na_H_Exchanger	148	542	4.7e-31	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000161417

SMART Domains

Protein: ENSMUSP00000125203
Gene: ENSMUSG00000050150

Domain	Start	End	E-Value	Type
Pfam:Na_H_Exchanger	2	75	1.1e-7	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

97% (62/64)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a sodium/hydrogen exchanger and transmembrane protein. Highly conserved orthologs of this gene have been found in other mammalian species. The expression of this gene may be limited to testis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	T	C	5: 124,228,176 (GRCm39)	T22A	possibly damaging	Het
Adam33	T	C	2: 130,897,737 (GRCm39)	Q227R	probably benign	Het
Adgrb2	G	A	4: 129,912,802 (GRCm39)	G1276D	probably benign	Het
Adra1b	A	G	11: 43,667,056 (GRCm39)	S394P	possibly damaging	Het
Arap2	T	A	5: 62,906,341 (GRCm39)	H226L	probably benign	Het
Bckdk	A	G	7: 127,506,658 (GRCm39)	D297G	probably null	Het
Brwd1	T	C	16: 95,869,725 (GRCm39)	T101A	probably benign	Het
Ciita	A	G	16: 10,324,565 (GRCm39)	R166G	probably benign	Het
Cnksr1	A	G	4: 133,956,323 (GRCm39)	F587S	probably damaging	Het
Col4a1	A	T	8: 11,253,007 (GRCm39)	C1548S	possibly damaging	Het
Cxcl15	G	T	5: 90,949,154 (GRCm39)	M106I		Het
Dennd6a	T	C	14: 26,350,689 (GRCm39)	I598T	probably damaging	Het
Dlg5	G	A	14: 24,199,567 (GRCm39)	P1446S	probably damaging	Het
Dnah6	A	T	6: 73,044,469 (GRCm39)	I3214N	probably benign	Het
Dnmt3b	T	C	2: 153,518,703 (GRCm39)	V622A	probably damaging	Het
Fam170b	T	A	14: 32,557,404 (GRCm39)	S80T	probably damaging	Het
Fbxl13	G	T	5: 21,837,801 (GRCm39)	H45Q	probably benign	Het
Fbxo39	T	C	11: 72,208,316 (GRCm39)	F223L	possibly damaging	Het
Fndc3b	C	A	3: 27,523,014 (GRCm39)		probably null	Het
Gbp3	G	C	3: 142,273,586 (GRCm39)	V378L	probably benign	Het
Gc	C	T	5: 89,591,444 (GRCm39)	S98N	probably benign	Het
Gck	A	G	11: 5,856,516 (GRCm39)	Y214H	probably damaging	Het
Gpr158	A	T	2: 21,830,078 (GRCm39)	S708C	probably damaging	Het
Hmcn1	A	T	1: 150,573,331 (GRCm39)	M2106K	probably benign	Het
Hoxd11	T	A	2: 74,513,274 (GRCm39)	Y180N	possibly damaging	Het
Hydin	A	G	8: 111,235,546 (GRCm39)	I1844V	probably benign	Het
Knl1	T	C	2: 118,917,973 (GRCm39)	I1777T	probably benign	Het
Krt33b	A	C	11: 99,915,846 (GRCm39)	L300R	probably damaging	Het
Madd	C	T	2: 90,988,404 (GRCm39)	A1208T	probably benign	Het
Meis2	T	A	2: 115,694,760 (GRCm39)	N461I	probably benign	Het
Mgat1	T	A	11: 49,152,165 (GRCm39)	V216E	probably damaging	Het
Nox4	G	A	7: 87,025,448 (GRCm39)	R525Q	probably benign	Het
Npc1l1	C	T	11: 6,164,684 (GRCm39)	V1122M	possibly damaging	Het
Nrsn1	A	G	13: 25,437,517 (GRCm39)	M137T	probably benign	Het
Nrxn3	T	C	12: 90,298,924 (GRCm39)	S1015P	probably benign	Het
Nudt22	T	A	19: 6,972,119 (GRCm39)	I166F	probably benign	Het
Or10d1b	A	C	9: 39,613,984 (GRCm39)	V27G	probably benign	Het
Or5j1	C	T	2: 86,879,171 (GRCm39)	M136I	possibly damaging	Het
Or6k4	A	T	1: 173,964,322 (GRCm39)	N4I		Het
Or6n2	T	A	1: 173,897,176 (GRCm39)	F104Y	probably damaging	Het
Or8b4	T	A	9: 37,829,992 (GRCm39)	I13N	probably damaging	Het
Or8g31-ps1	C	T	9: 39,276,388 (GRCm39)	P178S	unknown	Het
Pcdha4	T	A	18: 37,087,630 (GRCm39)	N604K	probably damaging	Het
Plxnc1	C	T	10: 94,663,107 (GRCm39)	V1181M	probably damaging	Het
Pms1	G	C	1: 53,307,021 (GRCm39)	H128Q	probably benign	Het
Prkar2b	G	A	12: 32,013,025 (GRCm39)	H364Y	probably benign	Het
Pus7	A	T	5: 23,957,380 (GRCm39)	I357K	possibly damaging	Het
Rsf1	GCGGC	GCGGCGGCGCCGGC	7: 97,229,138 (GRCm39)		probably benign	Het
Ryr3	T	C	2: 112,508,906 (GRCm39)		probably benign	Het
Siglec1	T	C	2: 130,915,389 (GRCm39)	I1401V	probably benign	Het
Slc6a6	G	T	6: 91,731,940 (GRCm39)	V590L	probably benign	Het
Sprn	T	C	7: 139,733,278 (GRCm39)	D98G	possibly damaging	Het
Srrm4	T	C	5: 116,620,563 (GRCm39)	D55G	unknown	Het
Sugct	A	G	13: 17,497,833 (GRCm39)	V280A	probably benign	Het
Tbx6	A	G	7: 126,381,014 (GRCm39)	E83G	possibly damaging	Het
Tmem120a	T	C	5: 135,765,455 (GRCm39)	T209A	probably benign	Het
Top3a	T	C	11: 60,647,155 (GRCm39)	R255G	probably damaging	Het
Trav6-1	T	A	14: 52,876,008 (GRCm39)	F13I	probably benign	Het
Tsnaxip1	A	G	8: 106,568,622 (GRCm39)	E410G	probably benign	Het
Ubr5	A	G	15: 38,018,596 (GRCm39)	V842A		Het
Ubtf	A	G	11: 102,201,015 (GRCm39)		probably null	Het
Vwa3b	G	A	1: 37,174,593 (GRCm39)	M1I	probably null	Het
Zfp518b	T	C	5: 38,831,181 (GRCm39)	T275A	probably benign	Het

Other mutations in Slc9b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01979:Slc9b1	APN	3	135,077,743 (GRCm39)	splice site	probably null
IGL02793:Slc9b1	APN	3	135,080,167 (GRCm39)	unclassified	probably benign
IGL02875:Slc9b1	APN	3	135,080,167 (GRCm39)	unclassified	probably benign
IGL02977:Slc9b1	APN	3	135,103,484 (GRCm39)	missense	probably damaging	1.00
IGL02990:Slc9b1	APN	3	135,100,744 (GRCm39)	splice site	probably null
IGL03112:Slc9b1	APN	3	135,103,433 (GRCm39)	missense	probably damaging	1.00
IGL03277:Slc9b1	APN	3	135,096,269 (GRCm39)	missense	possibly damaging	0.46
IGL03409:Slc9b1	APN	3	135,100,670 (GRCm39)	missense	probably damaging	0.99
R0190:Slc9b1	UTSW	3	135,063,434 (GRCm39)	missense	unknown
R0329:Slc9b1	UTSW	3	135,078,996 (GRCm39)	nonsense	probably null
R0591:Slc9b1	UTSW	3	135,088,593 (GRCm39)	missense	possibly damaging	0.88
R0592:Slc9b1	UTSW	3	135,099,835 (GRCm39)	splice site	probably benign
R0602:Slc9b1	UTSW	3	135,103,516 (GRCm39)	missense	probably benign	0.00
R0893:Slc9b1	UTSW	3	135,100,651 (GRCm39)	missense	probably benign	0.15
R1250:Slc9b1	UTSW	3	135,054,531 (GRCm39)	start codon destroyed	probably null
R1619:Slc9b1	UTSW	3	135,060,765 (GRCm39)	splice site	probably null
R1840:Slc9b1	UTSW	3	135,063,229 (GRCm39)	missense	unknown
R3157:Slc9b1	UTSW	3	135,077,606 (GRCm39)	missense	probably damaging	1.00
R3159:Slc9b1	UTSW	3	135,077,606 (GRCm39)	missense	probably damaging	1.00
R4565:Slc9b1	UTSW	3	135,088,478 (GRCm39)	missense	probably damaging	1.00
R5138:Slc9b1	UTSW	3	135,063,534 (GRCm39)	intron	probably benign
R5154:Slc9b1	UTSW	3	135,078,940 (GRCm39)	missense	probably damaging	1.00
R5429:Slc9b1	UTSW	3	135,079,024 (GRCm39)	critical splice donor site	probably null
R5677:Slc9b1	UTSW	3	135,063,320 (GRCm39)	missense	unknown
R5903:Slc9b1	UTSW	3	135,098,655 (GRCm39)	intron	probably benign
R5933:Slc9b1	UTSW	3	135,099,756 (GRCm39)	missense	probably benign	0.30
R6593:Slc9b1	UTSW	3	135,063,219 (GRCm39)	start codon destroyed	probably null
R6667:Slc9b1	UTSW	3	135,077,726 (GRCm39)	missense	probably damaging	0.99
R6788:Slc9b1	UTSW	3	135,063,518 (GRCm39)	splice site	probably null
R7974:Slc9b1	UTSW	3	135,099,791 (GRCm39)	missense	possibly damaging	0.57
R8210:Slc9b1	UTSW	3	135,097,948 (GRCm39)	missense	probably damaging	1.00
R8276:Slc9b1	UTSW	3	135,077,658 (GRCm39)	missense	possibly damaging	0.63
R8988:Slc9b1	UTSW	3	135,078,900 (GRCm39)	missense	possibly damaging	0.69
R9266:Slc9b1	UTSW	3	135,054,468 (GRCm39)	intron	probably benign
RF006:Slc9b1	UTSW	3	135,063,303 (GRCm39)	small deletion	probably benign

Predicted Primers

PCR Primer
(F):5'- AGCAACAGCCTCAAAATATTTTCAGA -3'
(R):5'- TTCTTCTCAATTTCAGAGTAATTGCT -3'

Sequencing Primer
(F):5'- CTTGGGTTTGGCACTATC -3'
(R):5'- CTGCCTTATTCCTGGGAAACAAG -3'

Posted On

2021-12-30