Mutagenetix > Incidental Mutation

Incidental Mutation 'R9266:Slc9b1'

702532

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

Accession Numbers

Essential gene?

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

Stock #

R9266 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

135053790-135103588 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 135054468 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000124452 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051849] [ENSMUST00000078568] [ENSMUST00000159658]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000051849

SMART Domains

Protein: ENSMUSP00000060640
Gene: ENSMUSG00000037994

Domain	Start	End	E-Value	Type
transmembrane domain	83	102	N/A	INTRINSIC
Pfam:Na_H_Exchanger	116	515	4.4e-32	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000078568

SMART Domains

Protein: ENSMUSP00000077644
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	148	542	4.7e-31	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000159658

SMART Domains

Protein: ENSMUSP00000124452
Gene: ENSMUSG00000050150

Domain	Start	End	E-Value	Type
low complexity region	10	83	N/A	INTRINSIC
low complexity region	101	114	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf1	C	A	17: 36,270,178 (GRCm39)	E627*	probably null	Het
Aoc1l2	A	G	6: 48,907,171 (GRCm39)	N57S	probably benign	Het
Arhgap42	A	G	9: 9,006,386 (GRCm39)	V670A	probably benign	Het
Arhgef16	C	A	4: 154,375,922 (GRCm39)	R24L	probably benign	Het
Atad2	A	T	15: 57,985,967 (GRCm39)	D251E	probably benign	Het
Atf2	T	C	2: 73,649,271 (GRCm39)	S447G	probably benign	Het
Atp8b1	T	C	18: 64,704,108 (GRCm39)	M337V	probably benign	Het
Atp8b1	C	T	18: 64,710,528 (GRCm39)	D170N	possibly damaging	Het
Azin2	C	A	4: 128,856,230 (GRCm39)		probably benign	Het
Btbd16	C	T	7: 130,417,516 (GRCm39)	R344C	probably damaging	Het
Cdh19	A	G	1: 110,817,771 (GRCm39)	L657P	probably damaging	Het
Crybg3	A	T	16: 59,372,544 (GRCm39)	V598E	probably damaging	Het
Cwc22	A	G	2: 77,754,952 (GRCm39)	I208T	probably benign	Het
Cyp4a32	T	A	4: 115,468,307 (GRCm39)	D292E	probably damaging	Het
Dnah10	G	A	5: 124,845,990 (GRCm39)	V1510I	probably benign	Het
Dpp3	G	T	19: 4,964,686 (GRCm39)	Y540*	probably null	Het
Efcab8	G	C	2: 153,646,861 (GRCm39)	V397L	unknown	Het
Elf1	A	G	14: 79,798,290 (GRCm39)	D59G	probably benign	Het
Epc1	A	T	18: 6,449,219 (GRCm39)	M476K	probably benign	Het
Espnl	C	A	1: 91,272,771 (GRCm39)	S710R	probably benign	Het
Fam171b	T	C	2: 83,683,926 (GRCm39)	W148R	probably damaging	Het
Fhod1	A	G	8: 106,065,531 (GRCm39)	L88P	unknown	Het
Frmd4a	A	G	2: 4,610,846 (GRCm39)	S999G	probably damaging	Het
Glmp	T	C	3: 88,233,036 (GRCm39)	I58T	probably damaging	Het
Gm45861	T	A	8: 28,074,674 (GRCm39)	D1341E	unknown	Het
Gpr179	A	G	11: 97,227,766 (GRCm39)	I1463T	probably benign	Het
Gsdmc2	T	C	15: 63,698,088 (GRCm39)	E339G	probably damaging	Het
Insm1	A	T	2: 146,064,933 (GRCm39)	I250F	probably damaging	Het
Insm1	G	A	2: 146,064,943 (GRCm39)	G253D	possibly damaging	Het
Itih1	A	T	14: 30,652,222 (GRCm39)	S824T	probably damaging	Het
Lactb	A	G	9: 66,878,499 (GRCm39)	Y190H	possibly damaging	Het
Lrba	T	C	3: 86,198,774 (GRCm39)	M197T	probably benign	Het
Lrrc4c	A	G	2: 97,459,853 (GRCm39)	I160V	probably benign	Het
Lrrc59	A	T	11: 94,532,044 (GRCm39)		probably null	Het
Ltk	A	T	2: 119,585,121 (GRCm39)	M425K	possibly damaging	Het
Map9	T	C	3: 82,278,594 (GRCm39)	V198A	possibly damaging	Het
Mms22l	T	C	4: 24,578,878 (GRCm39)	Y746H	probably damaging	Het
Ms4a4b	A	G	19: 11,432,060 (GRCm39)	I60M	probably benign	Het
Mtif2	T	C	11: 29,480,065 (GRCm39)	W44R	probably benign	Het
Nadsyn1	A	T	7: 143,369,348 (GRCm39)	W128R	probably damaging	Het
Nrcam	G	A	12: 44,636,917 (GRCm39)	A1117T	probably damaging	Het
Ntng1	G	A	3: 110,050,923 (GRCm39)		probably benign	Het
Ntng1	A	G	3: 110,051,162 (GRCm39)	F56L	unknown	Het
Oas2	A	T	5: 120,887,637 (GRCm39)	Y68N	probably damaging	Het
Or4c119	A	T	2: 88,986,854 (GRCm39)	F222I	possibly damaging	Het
Or5b101	A	C	19: 13,005,648 (GRCm39)	L15R	probably damaging	Het
Or6c6c	T	C	10: 129,541,547 (GRCm39)	S267P	probably benign	Het
Pals2	T	C	6: 50,140,463 (GRCm39)	M161T	probably benign	Het
Paqr8	C	T	1: 21,005,863 (GRCm39)	T339I	probably benign	Het
Pcdhga10	A	G	18: 37,881,814 (GRCm39)	E525G	probably benign	Het
Psg28	T	G	7: 18,161,752 (GRCm39)	L250F	probably benign	Het
S100a13	G	T	3: 90,423,170 (GRCm39)	D54Y	unknown	Het
Slc16a4	A	T	3: 107,199,788 (GRCm39)	T12S	probably benign	Het
Slit3	T	C	11: 35,598,808 (GRCm39)	S1471P	probably damaging	Het
Smpdl3a	T	C	10: 57,678,596 (GRCm39)	V133A	possibly damaging	Het
Snap23	C	T	2: 120,414,781 (GRCm39)		probably benign	Het
Spp2	A	G	1: 88,344,975 (GRCm39)	M146V	probably benign	Het
Syf2	C	A	4: 134,663,321 (GRCm39)	N164K	possibly damaging	Het
Sync	T	G	4: 129,187,179 (GRCm39)	Y70*	probably null	Het
Tex56	A	G	13: 35,116,569 (GRCm39)	K106R	possibly damaging	Het
Tmigd3	T	C	3: 105,824,216 (GRCm39)	F62L	probably benign	Het
Trpa1	C	T	1: 14,980,953 (GRCm39)		probably null	Het
U2surp	A	T	9: 95,366,468 (GRCm39)	I480N	probably damaging	Het
Usf3	C	T	16: 44,040,095 (GRCm39)	T1525I	probably damaging	Het
Vmn2r2	T	C	3: 64,024,057 (GRCm39)	I841M	probably damaging	Het
Zfp335	T	A	2: 164,738,007 (GRCm39)	Q868L	probably benign	Het
Zscan10	A	G	17: 23,828,385 (GRCm39)	E309G	possibly 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
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
RF006:Slc9b1	UTSW	3	135,063,303 (GRCm39)	small deletion	probably benign

Predicted Primers

PCR Primer
(F):5'- TCTTGGCTTTATCGCAGCGG -3'
(R):5'- GCTAAGTGCATATCTCCATCAACC -3'

Sequencing Primer
(F):5'- TTTATCGCAGCGGACAAGC -3'
(R):5'- ACCAATCTGATCTTTCACAGGG -3'

Posted On

2022-03-25