Mutagenetix > Incidental Mutation

Incidental Mutation 'R9746:Slc4a8'

732165

Institutional Source

Beutler Lab

Gene Symbol

Slc4a8

Ensembl Gene

ENSMUSG00000023032

Gene Name

solute carrier family 4 (anion exchanger), member 8

Synonyms

NDCBE, KNBC-3, sodium bicarbonate cotransporter isoform 3 kNBC-3

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.262) question?

Stock #

R9746 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

100761747-100823968 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 100783840 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 111 (H111N)

Ref Sequence

ENSEMBL: ENSMUSP00000023776 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023776] [ENSMUST00000162049]

AlphaFold

Q8JZR6

Predicted Effect

probably damaging
Transcript: ENSMUST00000023776
AA Change: H111N

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

SMART Domains

Protein: ENSMUSP00000023776
Gene: ENSMUSG00000023032
AA Change: H111N

Domain	Start	End	E-Value	Type
low complexity region	60	79	N/A	INTRINSIC
Pfam:Band_3_cyto	145	402	1.4e-105	PFAM
Pfam:HCO3_cotransp	443	956	9.6e-247	PFAM
transmembrane domain	964	986	N/A	INTRINSIC
low complexity region	1010	1027	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000162049
AA Change: H59N

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

SMART Domains

Protein: ENSMUSP00000125090
Gene: ENSMUSG00000023032
AA Change: H59N

Domain	Start	End	E-Value	Type
low complexity region	8	27	N/A	INTRINSIC
Pfam:Band_3_cyto	93	350	6.5e-103	PFAM
Pfam:HCO3_cotransp	390	904	1.6e-251	PFAM
transmembrane domain	912	934	N/A	INTRINSIC
low complexity region	958	975	N/A	INTRINSIC

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.2%
20x: 98.2%

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 membrane protein that functions to transport sodium and bicarbonate ions across the cell membrane. The encoded protein is important for pH regulation in neurons. The activity of this protein can be inhibited by 4,4'-Di-isothiocyanatostilbene-2,2'-disulfonic acid (DIDS). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal sodium and chloride ion excretion. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr1	T	A	1: 173,332,031	H307L	probably benign	Het
Acnat1	A	T	4: 49,450,652	L153H	probably damaging	Het
Actn4	A	T	7: 28,919,006	D76E	probably benign	Het
Afdn	A	C	17: 13,846,520	M640L	probably benign	Het
Angpt1	A	T	15: 42,676,441	F7L	probably benign	Het
Ap3b2	A	G	7: 81,476,344	F373S	probably damaging	Het
Armc2	T	A	10: 41,924,461	Y650F	probably damaging	Het
Atg2b	G	T	12: 105,663,938	T398K	possibly damaging	Het
Baz1a	CCATT	CCATTCATT	12: 54,975,110		probably null	Het
Capn8	G	A	1: 182,611,105		probably null	Het
Cdr1	AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC	AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC	X: 61,184,524		probably benign	Het
Cfap54	T	C	10: 92,801,219	N3103D	probably benign	Het
Chd9	G	A	8: 91,011,435	R1565Q	unknown	Het
Cir1	G	A	2: 73,303,808	T139I	probably damaging	Het
Cmah	T	C	13: 24,435,690		probably null	Het
Cnpy1	T	C	5: 28,245,802	D2G	probably damaging	Het
Dennd4a	A	T	9: 64,894,511	T979S	probably benign	Het
Dnah11	T	A	12: 117,878,576	K4423*	probably null	Het
Dnajb4	A	G	3: 152,186,683	I171T	possibly damaging	Het
Dpm1	A	T	2: 168,230,387		probably null	Het
Dtwd1	A	G	2: 126,154,675	T27A	probably benign	Het
Ep400	C	T	5: 110,742,006	D464N	unknown	Het
Epb42	A	T	2: 121,024,610	I498N	probably benign	Het
Fhod1	A	G	8: 105,337,416	V219A	unknown	Het
Gabrb2	A	T	11: 42,626,609	E419D	probably benign	Het
Galnt18	A	T	7: 111,471,961	N615K	possibly damaging	Het
Gm13084	T	C	4: 143,810,316	T482A	probably benign	Het
Gm29106	T	A	1: 118,199,524	H315Q	possibly damaging	Het
Gprin2	G	T	14: 34,195,658	Q52K	probably benign	Het
Grm4	A	T	17: 27,438,791	Y414N	probably damaging	Het
Gulo	C	A	14: 65,988,181		probably null	Het
H2-M1	A	C	17: 36,670,105	V313G	possibly damaging	Het
Hectd3	T	C	4: 116,995,754	W118R	probably damaging	Het
Hs6st3	G	A	14: 119,869,080	C300Y	probably damaging	Het
Il1rl2	T	A	1: 40,365,359	S547T	possibly damaging	Het
Kank1	G	T	19: 25,409,508	V182F	probably damaging	Het
Kif20b	T	A	19: 34,950,749	L1137*	probably null	Het
Klhl7	A	G	5: 24,126,820		probably null	Het
Krt13	T	A	11: 100,121,161	D112V	possibly damaging	Het
Ltbr	A	G	6: 125,313,101	V71A	probably benign	Het
Ly6g	T	C	15: 75,158,609	V92A	probably benign	Het
Map2k3	G	A	11: 60,932,103		probably benign	Het
Mast2	A	C	4: 116,311,730	D842E	probably benign	Het
Mpo	T	G	11: 87,803,523	M693R	probably benign	Het
Myo15	C	A	11: 60,487,408	S212*	probably null	Het
Nadk2	C	T	15: 9,106,736	R37*	probably null	Het
Ncapd3	G	A	9: 27,063,359	R709H	probably benign	Het
Nck2	T	A	1: 43,533,732	Y55*	probably null	Het
Neurl4	A	G	11: 69,907,475	D777G	probably damaging	Het
Npr2	G	A	4: 43,633,527	V224M	possibly damaging	Het
Nptx2	T	A	5: 144,548,140	S148T	probably benign	Het
Nr1d1	T	C	11: 98,770,334	T369A	probably benign	Het
Nub1	T	G	5: 24,703,485	F411V	probably damaging	Het
Nup188	T	A	2: 30,304,288	Y158N	probably damaging	Het
Olfr1031	A	G	2: 85,992,747	Y310C	probably benign	Het
Olfr513	A	G	7: 108,755,432	N192S	probably benign	Het
Olfr716	A	T	7: 107,147,453	I46F	probably benign	Het
Olfr804	A	T	10: 129,705,339	I154F	probably damaging	Het
Olfr897-ps1	T	A	9: 38,309,632	I279K	unknown	Het
Orc2	C	T	1: 58,497,451	G85S	probably damaging	Het
Pak1ip1	T	A	13: 41,009,267	V182D	probably damaging	Het
Parvg	T	G	15: 84,326,223	C30W	probably benign	Het
Pcdha1	T	A	18: 36,932,660	D792E	probably benign	Het
Ppp1r13b	G	T	12: 111,833,808	Q635K	probably benign	Het
Psg16	A	G	7: 17,098,161	I341V	probably benign	Het
Psme4	C	T	11: 30,876,868	Q1796*	probably null	Het
Ptn	T	G	6: 36,715,764		probably null	Het
Rapsn	C	T	2: 91,045,478	P400L	probably damaging	Het
Rasal1	G	A	5: 120,662,293	G207D	probably damaging	Het
Rdx	A	G	9: 52,063,578	I5V	probably benign	Het
Rpf1	A	G	3: 146,517,778	I105T	probably damaging	Het
Rps15a	A	T	7: 118,109,997	F79I	possibly damaging	Het
Rwdd2b	G	A	16: 87,436,753	P153L	probably benign	Het
Scaf11	G	A	15: 96,420,417	S422L	probably damaging	Het
Serpinb3b	T	A	1: 107,154,673	E287V	possibly damaging	Het
Sgta	T	C	10: 81,051,284	D49G	possibly damaging	Het
Sin3a	T	A	9: 57,118,074	M1068K	probably benign	Het
Slc12a9	G	A	5: 137,321,409	R615W	probably damaging	Het
Slc26a3	T	A	12: 31,449,146	S151T	probably benign	Het
Syngr1	G	A	15: 80,091,458	R22K	probably benign	Het
Tars2	A	T	3: 95,754,765	V25E	probably benign	Het
Tbx15	A	G	3: 99,352,331	Y506C	probably damaging	Het
Tgm4	A	T	9: 123,046,569	K162N	possibly damaging	Het
Tmem253	A	G	14: 52,017,982	E83G	probably damaging	Het
Trp73	G	A	4: 154,081,402	T118I	probably damaging	Het
Trpm7	A	G	2: 126,822,658	S934P	possibly damaging	Het
Ttc23l	G	A	15: 10,523,643	S330L	probably benign	Het
Tub	A	C	7: 109,025,638	D199A	probably benign	Het
Uri1	A	C	7: 37,996,685		probably null	Het
Usp16	C	T	16: 87,479,232	A486V	probably benign	Het
Vmn1r12	A	G	6: 57,159,541	I208V	probably benign	Het
Vmn2r116	A	T	17: 23,401,823	M844L	probably benign	Het
Vmn2r13	C	T	5: 109,191,907		probably null	Het
Xpnpep1	T	C	19: 53,013,461	D118G	probably damaging	Het
Zfp111	G	A	7: 24,198,642	P516S	possibly damaging	Het

Other mutations in Slc4a8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00502:Slc4a8	APN	15	100807438	missense	possibly damaging	0.50
IGL01633:Slc4a8	APN	15	100787247	missense	probably damaging	1.00
IGL02945:Slc4a8	APN	15	100807199	critical splice acceptor site	probably null
IGL03172:Slc4a8	APN	15	100799717	missense	probably benign
R0008:Slc4a8	UTSW	15	100800493	missense	possibly damaging	0.67
R0040:Slc4a8	UTSW	15	100789846	missense	probably damaging	0.98
R0040:Slc4a8	UTSW	15	100789846	missense	probably damaging	0.98
R0257:Slc4a8	UTSW	15	100784880	splice site	probably benign
R0393:Slc4a8	UTSW	15	100774638	missense	probably damaging	0.99
R0508:Slc4a8	UTSW	15	100789092	missense	probably benign	0.01
R0639:Slc4a8	UTSW	15	100796550	missense	probably damaging	1.00
R1640:Slc4a8	UTSW	15	100783787	missense	probably benign	0.13
R1692:Slc4a8	UTSW	15	100800573	missense	probably damaging	1.00
R1766:Slc4a8	UTSW	15	100787212	missense	probably benign	0.00
R1955:Slc4a8	UTSW	15	100807376	missense	probably damaging	1.00
R2157:Slc4a8	UTSW	15	100806373	missense	probably damaging	1.00
R2206:Slc4a8	UTSW	15	100807445	missense	probably damaging	1.00
R2229:Slc4a8	UTSW	15	100809299	missense	probably damaging	1.00
R2274:Slc4a8	UTSW	15	100807402	missense	probably benign	0.00
R2275:Slc4a8	UTSW	15	100807402	missense	probably benign	0.00
R4299:Slc4a8	UTSW	15	100796640	critical splice donor site	probably null
R4482:Slc4a8	UTSW	15	100810599	missense	probably damaging	1.00
R5038:Slc4a8	UTSW	15	100795821	missense	probably damaging	0.98
R5586:Slc4a8	UTSW	15	100787164	missense	probably damaging	1.00
R5594:Slc4a8	UTSW	15	100795887	missense	probably damaging	1.00
R5804:Slc4a8	UTSW	15	100791625	missense	possibly damaging	0.71
R5815:Slc4a8	UTSW	15	100788211	missense	probably benign	0.42
R5921:Slc4a8	UTSW	15	100814447	splice site	probably benign
R6029:Slc4a8	UTSW	15	100807339	missense	probably benign	0.00
R6212:Slc4a8	UTSW	15	100811571	missense	possibly damaging	0.69
R6321:Slc4a8	UTSW	15	100789164	missense	probably damaging	0.99
R6574:Slc4a8	UTSW	15	100807316	missense	probably damaging	1.00
R6829:Slc4a8	UTSW	15	100800538	missense	probably damaging	1.00
R7023:Slc4a8	UTSW	15	100791643	missense	probably benign	0.00
R7082:Slc4a8	UTSW	15	100791027	missense	probably damaging	1.00
R7197:Slc4a8	UTSW	15	100790976	missense	probably damaging	1.00
R7352:Slc4a8	UTSW	15	100790984	missense	probably damaging	1.00
R7391:Slc4a8	UTSW	15	100784862	missense	probably damaging	0.98
R7627:Slc4a8	UTSW	15	100788223	missense	probably benign	0.08
R7810:Slc4a8	UTSW	15	100798178	missense	possibly damaging	0.72
R7934:Slc4a8	UTSW	15	100787292	missense	probably damaging	1.00
R8026:Slc4a8	UTSW	15	100787289	missense	possibly damaging	0.72
R8308:Slc4a8	UTSW	15	100795854	missense	probably damaging	0.99
R8504:Slc4a8	UTSW	15	100803290	missense	possibly damaging	0.56
R8791:Slc4a8	UTSW	15	100807253	missense	possibly damaging	0.72
R8919:Slc4a8	UTSW	15	100814540	missense	probably benign	0.02
R9155:Slc4a8	UTSW	15	100774690	missense	probably damaging	1.00
R9179:Slc4a8	UTSW	15	100791601	missense	possibly damaging	0.92
R9253:Slc4a8	UTSW	15	100783032	missense	probably benign	0.18
R9422:Slc4a8	UTSW	15	100800588	missense	probably benign	0.00
R9457:Slc4a8	UTSW	15	100806260	missense	probably damaging	1.00
Z1088:Slc4a8	UTSW	15	100761951	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CTCAGTTGACAGCTCTGCTC -3'
(R):5'- AGGCTTACTGGTAACCACGTTAC -3'

Sequencing Primer
(F):5'- CAGGAGAGCCTTTCCTCTAAG -3'
(R):5'- GTAACCACGTTACCAAGAAGAGAC -3'

Posted On

2022-11-14