Mutagenetix > Incidental Mutation

Incidental Mutation 'R0893:Slc9b1'

83571

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

039056-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R0893 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

135053790-135103588 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 135100651 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 465 (L465F)

Ref Sequence

ENSEMBL: ENSMUSP00000077644 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000078568
AA Change: L465F

PolyPhen 2 Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000077644
Gene: ENSMUSG00000050150
AA Change: L465F

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

noncoding transcript
Transcript: ENSMUST00000159276

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160460

SMART Domains

Protein: ENSMUSP00000124902
Gene: ENSMUSG00000050150

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	149	363	1.8e-19	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

Meta Mutation Damage Score

0.2780

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.4%
20x: 95.1%

Validation Efficiency

99% (77/78)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	A	12: 71,266,082 (GRCm39)		probably benign	Het
Adnp	A	T	2: 168,025,647 (GRCm39)	F549L	possibly damaging	Het
Agl	A	G	3: 116,546,935 (GRCm39)	I1305T	probably benign	Het
Aldh8a1	T	A	10: 21,267,593 (GRCm39)	M326K	probably benign	Het
Amdhd1	A	T	10: 93,363,513 (GRCm39)	M295K	probably damaging	Het
Arhgef4	T	A	1: 34,846,191 (GRCm39)	C324S	probably damaging	Het
Car8	A	T	4: 8,238,119 (GRCm39)		probably null	Het
Cc2d1a	T	C	8: 84,867,468 (GRCm39)		probably benign	Het
Cd81	G	A	7: 142,616,242 (GRCm39)	V27M	possibly damaging	Het
Ces1b	A	T	8: 93,806,056 (GRCm39)	S62T	probably benign	Het
Cfb	A	G	17: 35,077,031 (GRCm39)	S30P	probably damaging	Het
Cmtm3	A	G	8: 105,070,543 (GRCm39)	M101V	possibly damaging	Het
Cul7	T	A	17: 46,974,116 (GRCm39)	L1467H	probably damaging	Het
Ddb1	C	T	19: 10,590,280 (GRCm39)	S269L	probably benign	Het
Ddx25	G	A	9: 35,465,686 (GRCm39)	Q143*	probably null	Het
Dis3l2	T	A	1: 86,971,928 (GRCm39)		probably null	Het
Dlgap4	G	T	2: 156,587,898 (GRCm39)	E598*	probably null	Het
Dus1l	C	T	11: 120,680,262 (GRCm39)	G471D	possibly damaging	Het
Elp4	C	A	2: 105,727,290 (GRCm39)		probably benign	Het
Eya3	A	G	4: 132,417,097 (GRCm39)	N194S	probably benign	Het
Golgb1	G	T	16: 36,732,639 (GRCm39)	V629L	possibly damaging	Het
Hars2	G	A	18: 36,920,648 (GRCm39)	A164T	possibly damaging	Het
Hexb	T	A	13: 97,322,135 (GRCm39)	I217L	probably benign	Het
Hgh1	A	G	15: 76,253,848 (GRCm39)		probably null	Het
Hsd3b3	A	T	3: 98,649,757 (GRCm39)		probably null	Het
Ighg2c	T	A	12: 113,251,053 (GRCm39)	N321Y	unknown	Het
Il5	A	G	11: 53,611,763 (GRCm39)	T34A	probably benign	Het
Jph1	C	A	1: 17,074,507 (GRCm39)	E504*	probably null	Het
Kif2b	G	T	11: 91,466,420 (GRCm39)	T621K	probably benign	Het
Kmt2c	A	T	5: 25,556,268 (GRCm39)		probably benign	Het
Leprotl1	A	G	8: 34,606,006 (GRCm39)		probably null	Het
Lpar3	C	T	3: 145,946,348 (GRCm39)	R9C	possibly damaging	Het
Map1a	A	G	2: 121,131,014 (GRCm39)	E372G	probably damaging	Het
Map2	C	A	1: 66,419,927 (GRCm39)	T86K	probably damaging	Het
Map7	A	G	10: 20,149,629 (GRCm39)		probably null	Het
Mdn1	T	C	4: 32,701,713 (GRCm39)	V1482A	probably benign	Het
Mks1	G	A	11: 87,747,777 (GRCm39)		probably benign	Het
Morf4l1	T	G	9: 89,984,403 (GRCm39)	K102N	probably damaging	Het
Mroh1	T	A	15: 76,293,138 (GRCm39)	V304D	possibly damaging	Het
Mtg1	G	A	7: 139,729,665 (GRCm39)	V252M	probably damaging	Het
Myh13	A	T	11: 67,225,427 (GRCm39)	D264V	probably damaging	Het
Myh2	A	G	11: 67,077,334 (GRCm39)	Y823C	possibly damaging	Het
Myoz1	A	T	14: 20,701,252 (GRCm39)	S112R	probably benign	Het
Ncapd2	A	G	6: 125,150,445 (GRCm39)	V860A	probably benign	Het
Nfix	G	A	8: 85,453,155 (GRCm39)	R300C	probably damaging	Het
Npffr1	T	C	10: 61,450,010 (GRCm39)	F95L	possibly damaging	Het
Or51f1e	G	T	7: 102,747,641 (GRCm39)	R231L	probably benign	Het
Or8b9	T	C	9: 37,766,492 (GRCm39)	I126T	probably damaging	Het
Orc4	A	C	2: 48,822,622 (GRCm39)		probably benign	Het
P3h3	A	C	6: 124,822,476 (GRCm39)	I565R	probably damaging	Het
Pak4	T	C	7: 28,259,202 (GRCm39)	D552G	probably benign	Het
Pcdhb4	G	T	18: 37,442,423 (GRCm39)		probably null	Het
Pdcd4	G	T	19: 53,917,525 (GRCm39)	R454L	probably damaging	Het
Phf8-ps	T	C	17: 33,284,263 (GRCm39)	I846M	probably benign	Het
Pkd1l2	A	G	8: 117,771,231 (GRCm39)	I1116T	probably damaging	Het
Plcb2	A	G	2: 118,555,586 (GRCm39)		probably benign	Het
Pmpca	T	C	2: 26,283,230 (GRCm39)		probably benign	Het
Pnpla7	T	A	2: 24,887,252 (GRCm39)	I32N	probably damaging	Het
Prpf8	A	G	11: 75,384,775 (GRCm39)	K718E	probably damaging	Het
Racgap1	C	T	15: 99,524,411 (GRCm39)	A359T	probably benign	Het
Rgs3	G	A	4: 62,523,798 (GRCm39)		probably null	Het
Rhpn1	A	G	15: 75,583,503 (GRCm39)	E356G	probably damaging	Het
Rps6ka5	T	C	12: 100,540,697 (GRCm39)	H488R	possibly damaging	Het
Scn11a	A	G	9: 119,632,396 (GRCm39)		probably null	Het
Sema4f	A	T	6: 82,912,948 (GRCm39)		probably benign	Het
Serpina1f	A	G	12: 103,660,094 (GRCm39)	S63P	probably damaging	Het
Slc9a3	T	C	13: 74,307,365 (GRCm39)	W386R	probably damaging	Het
Smc5	A	G	19: 23,241,017 (GRCm39)	V165A	possibly damaging	Het
Tex10	C	T	4: 48,456,800 (GRCm39)	R637Q	probably benign	Het
Tinagl1	G	T	4: 130,067,816 (GRCm39)	D59E	probably damaging	Het
Tns3	A	G	11: 8,443,302 (GRCm39)	Y354H	probably damaging	Het
Trappc9	C	T	15: 72,461,956 (GRCm39)	G1103D	probably damaging	Het
Unc79	A	T	12: 102,957,687 (GRCm39)	D34V	probably damaging	Het
Unc80	T	C	1: 66,560,645 (GRCm39)	L791P	probably damaging	Het
Unc93a2	A	G	17: 7,641,926 (GRCm39)	L174P	probably damaging	Het
Xpo7	G	T	14: 70,903,537 (GRCm39)		probably benign	Het
Zbtb1	T	A	12: 76,432,113 (GRCm39)	I33N	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
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
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'- TCCATCGAGTGAACAGAATGGCG -3'
(R):5'- tcGGGGCTTGAAAATGTAAGGAACC -3'

Sequencing Primer
(F):5'- atccatccccagcaccc -3'
(R):5'- TGAAAATGTAAGGAACCAAACATGAC -3'

Posted On

2013-11-08