Mutagenetix > Incidental Mutation

Incidental Mutation 'R8210:Slc9b1'

636105

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

067633-MU

Accession Numbers

Essential gene?

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

Stock #

R8210 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

135053790-135103588 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 135097948 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 393 (S393P)

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: S393P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000077644
Gene: ENSMUSG00000050150
AA Change: S393P

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

silent
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: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (63/63)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg1	G	A	9: 54,517,083 (GRCm39)	P577S	probably damaging	Het
Adal	T	C	2: 120,985,236 (GRCm39)	V269A	possibly damaging	Het
Adam33	T	C	2: 130,898,250 (GRCm39)	T155A	probably benign	Het
Adgre1	A	T	17: 57,752,061 (GRCm39)	E603V	possibly damaging	Het
Adgrf4	T	C	17: 42,978,441 (GRCm39)	T301A	probably damaging	Het
Agtpbp1	G	T	13: 59,630,385 (GRCm39)	A782E	possibly damaging	Het
Ank3	A	T	10: 69,811,925 (GRCm39)	K1197N	possibly damaging	Het
Anxa9	A	T	3: 95,213,207 (GRCm39)	D46E	probably damaging	Het
Atg9a	T	C	1: 75,161,927 (GRCm39)	T540A	probably damaging	Het
Atg9a	A	G	1: 75,163,009 (GRCm39)	Y364H	probably damaging	Het
Bltp1	A	C	3: 37,067,030 (GRCm39)	E73A		Het
Cd300c2	C	T	11: 114,891,634 (GRCm39)	G80D	possibly damaging	Het
Cebpz	T	C	17: 79,230,685 (GRCm39)	E844G	probably benign	Het
Celsr1	T	C	15: 85,863,436 (GRCm39)	I1199V	probably benign	Het
Cftr	A	G	6: 18,220,696 (GRCm39)	N189S	probably damaging	Het
Dhrs13	G	T	11: 77,924,302 (GRCm39)	R116I	unknown	Het
Dnah10	A	G	5: 124,827,858 (GRCm39)	M735V	probably benign	Het
Dnajb8	C	T	6: 88,199,940 (GRCm39)	R159C	possibly damaging	Het
E130208F15Rik	C	A	7: 30,021,619 (GRCm39)	S93*	probably null	Het
E330034G19Rik	T	C	14: 24,346,104 (GRCm39)	I92T		Het
Eef1d	A	T	15: 75,768,309 (GRCm39)	V511D	probably damaging	Het
Efna1	T	G	3: 89,183,520 (GRCm39)	E102A	probably damaging	Het
H2-M11	C	A	17: 36,858,860 (GRCm39)	F133L	probably damaging	Het
Htr3b	G	T	9: 48,847,343 (GRCm39)		probably null	Het
Kcns3	A	G	12: 11,142,253 (GRCm39)	S149P	probably damaging	Het
Lhx4	T	A	1: 155,586,214 (GRCm39)		probably null	Het
Lrp1	C	T	10: 127,412,354 (GRCm39)	V1317M	probably damaging	Het
Mphosph9	A	G	5: 124,405,174 (GRCm39)	I799T	probably damaging	Het
Muc1	C	T	3: 89,138,906 (GRCm39)	A505V	probably damaging	Het
Muc6	C	A	7: 141,235,673 (GRCm39)		probably null	Het
Mylk	A	G	16: 34,820,721 (GRCm39)	D1891G	probably damaging	Het
Nfe2l3	A	T	6: 51,428,065 (GRCm39)	H209L	probably benign	Het
Nprl2	A	C	9: 107,421,947 (GRCm39)	Y241S	probably damaging	Het
Oprm1	A	T	10: 6,780,442 (GRCm39)	Q368L	probably benign	Het
Or4g7	T	A	2: 111,309,753 (GRCm39)	M208K	possibly damaging	Het
Pcm1	C	T	8: 41,766,974 (GRCm39)	R1593C	probably damaging	Het
Pitpnm1	T	C	19: 4,162,878 (GRCm39)		probably null	Het
Pnoc	A	G	14: 65,642,521 (GRCm39)	S81P	probably benign	Het
Prkg2	T	A	5: 99,114,393 (GRCm39)	D585V	probably damaging	Het
Prpf38b	A	T	3: 108,815,148 (GRCm39)		probably benign	Het
Ranbp3l	G	T	15: 9,065,059 (GRCm39)	S482I	probably benign	Het
Rapgef4	T	C	2: 72,056,364 (GRCm39)	F651L	probably benign	Het
Rasgrf1	A	G	9: 89,793,675 (GRCm39)	T151A	unknown	Het
Rnf215	T	C	11: 4,085,544 (GRCm39)	L91P	possibly damaging	Het
Rph3a	T	C	5: 121,099,312 (GRCm39)	H193R	probably benign	Het
Rps17	C	T	7: 80,994,750 (GRCm39)	V4I	probably benign	Het
Sec61a2	A	T	2: 5,881,728 (GRCm39)	F234Y	possibly damaging	Het
Serpinb8	T	C	1: 107,526,736 (GRCm39)	L92P	probably damaging	Het
Slc1a6	A	T	10: 78,632,091 (GRCm39)	I306F	possibly damaging	Het
Slc26a11	T	C	11: 119,270,692 (GRCm39)	V538A	possibly damaging	Het
Slc27a1	G	A	8: 72,032,566 (GRCm39)	S193N	probably benign	Het
Slfn3	T	A	11: 83,105,332 (GRCm39)	I320K	possibly damaging	Het
Spata31f1a	T	A	4: 42,848,542 (GRCm39)	M1205L	probably benign	Het
Tgfbr1	A	T	4: 47,406,924 (GRCm39)	I420F	probably benign	Het
Tnik	A	T	3: 28,658,482 (GRCm39)	D589V	possibly damaging	Het
Trappc8	A	C	18: 21,006,938 (GRCm39)		probably null	Het
Ttbk1	A	G	17: 46,791,087 (GRCm39)	S66P	possibly damaging	Het
Unc13c	A	G	9: 73,392,220 (GRCm39)	V2044A	probably benign	Het
Usp53	T	C	3: 122,741,045 (GRCm39)	E735G	probably benign	Het
Vmn2r-ps158	T	A	7: 42,673,462 (GRCm39)	N180K	probably benign	Het
Zfyve26	A	T	12: 79,302,037 (GRCm39)	V1853D	probably damaging	Het
Zkscan17	A	G	11: 59,394,574 (GRCm39)	V9A	probably damaging	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
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
R9102:Slc9b1	UTSW	3	135,100,725 (GRCm39)	missense	probably damaging	1.00
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'- GGTTCTGTGTCTGCCAGAAG -3'
(R):5'- CTGGAGGAATTGGAACACCCTC -3'

Sequencing Primer
(F):5'- CTGCCAGAAGTTTTGATGGAAAATC -3'
(R):5'- TCCAACCAGATGGAGGTGACTTC -3'

Posted On

2020-07-13