Mutagenetix > Incidental Mutation

Incidental Mutation 'R5586:Slc4a8'

486850

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

043140-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.190) question?

Stock #

R5586 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

100761747-100823968 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 100787164 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 140 (D140G)

Ref Sequence

ENSEMBL: ENSMUSP00000125090 (fasta)

Gene Model

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

AlphaFold

Q8JZR6

Predicted Effect

probably damaging
Transcript: ENSMUST00000023776
AA Change: D192G

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

SMART Domains

Protein: ENSMUSP00000023776
Gene: ENSMUSG00000023032
AA Change: D192G

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: D140G

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

SMART Domains

Protein: ENSMUSP00000125090
Gene: ENSMUSG00000023032
AA Change: D140G

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

Meta Mutation Damage Score

0.2858

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.0%

Validation Efficiency

98% (101/103)

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432E11Rik	A	G	7: 29,577,728		noncoding transcript	Het
Aaas	A	T	15: 102,346,676		probably null	Het
Abcc3	G	A	11: 94,364,421	R600W	probably damaging	Het
Abhd13	A	T	8: 9,988,318	Q305L	probably benign	Het
Adcy5	A	T	16: 35,157,116	I340F	probably damaging	Het
Adgrl3	T	A	5: 81,724,147	I964N	probably damaging	Het
Anks1b	T	A	10: 90,077,064	H316Q	probably damaging	Het
Ap3d1	A	T	10: 80,719,130	F454I	possibly damaging	Het
Apol7c	T	C	15: 77,526,399	R116G	possibly damaging	Het
Arhgap5	A	G	12: 52,519,912	E1222G	possibly damaging	Het
AW551984	A	G	9: 39,591,263	V673A	probably benign	Het
Baiap2l1	A	G	5: 144,282,139	S220P	probably damaging	Het
Bcl6	A	G	16: 23,973,176	F143L	probably benign	Het
Calb1	A	T	4: 15,900,811	T165S	probably benign	Het
Ccdc66	C	A	14: 27,506,711	G6C	probably damaging	Het
Ccdc88a	A	G	11: 29,503,484	I344V	probably benign	Het
Cdh19	T	A	1: 110,929,857	D249V	probably damaging	Het
Ces1c	T	A	8: 93,127,599	T103S	probably benign	Het
Cfap54	T	A	10: 92,972,611	K1401*	probably null	Het
Copa	T	A	1: 172,105,222	N371K	probably damaging	Het
Cyp2b10	A	T	7: 25,917,012	Y348F	probably damaging	Het
Dennd5a	T	C	7: 109,905,721	R861G	possibly damaging	Het
Dhx8	T	C	11: 101,733,036		probably benign	Het
Dido1	C	T	2: 180,659,652	W2153*	probably null	Het
Dlgap1	T	A	17: 70,818,161	V969D	probably damaging	Het
Dvl3	A	G	16: 20,517,289	D32G	probably damaging	Het
Epdr1	T	C	13: 19,594,548	D24G	probably benign	Het
Etnk2	T	A	1: 133,379,305		probably null	Het
Fam129a	C	T	1: 151,717,556	T664I	probably benign	Het
Fhad1	C	T	4: 141,905,131	M1232I	probably benign	Het
Gcnt2	A	C	13: 40,860,953	E200A	probably damaging	Het
Gm12800	T	A	4: 101,910,120	F189I	probably benign	Het
Gm5174	A	G	10: 86,656,545		noncoding transcript	Het
Gm6408	T	A	5: 146,484,457	F299I	possibly damaging	Het
Gpr85	G	T	6: 13,836,001	Y301*	probably null	Het
Gucy2e	G	T	11: 69,226,256	P780T	probably damaging	Het
Icam5	A	T	9: 21,034,820	N316I	probably damaging	Het
Ifit1bl1	C	T	19: 34,594,277	R260Q	probably damaging	Het
Il1r1	A	C	1: 40,225,251		probably benign	Het
Kif3c	A	T	12: 3,389,656	I86F	probably benign	Het
Klhdc2	A	G	12: 69,307,693		probably null	Het
Mast2	A	G	4: 116,435,563	L9P	probably damaging	Het
Mcoln1	G	T	8: 3,510,389	C316F	probably damaging	Het
Mon1a	A	T	9: 107,898,695	D4V	probably damaging	Het
Ms4a18	T	A	19: 11,013,674	M19L	probably benign	Het
Nbea	T	C	3: 55,631,971	K2790E	probably benign	Het
Noc3l	C	T	19: 38,814,695	E167K	possibly damaging	Het
Nol10	G	A	12: 17,416,828	E570K	possibly damaging	Het
Nr2e3	T	C	9: 59,949,201	R69G	probably damaging	Het
Obscn	G	A	11: 59,001,468	R1358*	probably null	Het
Olfr115	A	T	17: 37,610,254	F166I	probably damaging	Het
Olfr1472	A	T	19: 13,454,382	M45K	probably benign	Het
Olfr1535	C	A	13: 21,555,096	V309F	probably damaging	Het
Olfr675	A	G	7: 105,024,221	I253T	probably damaging	Het
Pak2	A	T	16: 32,041,519	D175E	probably benign	Het
Pccb	C	T	9: 100,985,803	V357I	possibly damaging	Het
Pcdhb4	C	T	18: 37,308,981	P448L	probably damaging	Het
Pcdhb9	A	G	18: 37,401,114	M54V	probably benign	Het
Ppp3cb	A	G	14: 20,520,690		probably benign	Het
Ppp4r1	A	G	17: 65,824,568	D452G	probably benign	Het
Prmt3	T	A	7: 49,826,751	D369E	probably damaging	Het
Psmd12	T	A	11: 107,486,475	V120D	probably benign	Het
Ptprb	T	C	10: 116,353,827	L1797P	probably damaging	Het
Ptprm	A	G	17: 66,920,196	S653P	probably damaging	Het
Pxdn	T	A	12: 30,003,142	V926D	probably damaging	Het
Retreg3	T	G	11: 101,106,339	Q105P	probably damaging	Het
Sacs	A	T	14: 61,206,441	R1979*	probably null	Het
Scn2a	T	A	2: 65,707,295	L696*	probably null	Het
Sema3c	A	T	5: 17,711,424	N465Y	probably damaging	Het
Slc25a32	A	T	15: 39,099,913	V171E	possibly damaging	Het
Slc30a7	C	T	3: 115,990,051	V158I	probably benign	Het
Slc44a5	G	A	3: 154,270,165		probably benign	Het
Slc7a11	G	A	3: 50,443,083	S60L	possibly damaging	Het
Spryd3	A	T	15: 102,131,937	H59Q	probably benign	Het
Sqstm1	T	C	11: 50,203,022	D256G	probably damaging	Het
Sst	A	T	16: 23,889,737	S115T	probably damaging	Het
Surf1	T	C	2: 26,915,951		probably benign	Het
Synj1	A	T	16: 91,009,977		probably benign	Het
Tet1	C	A	10: 62,878,294	C574F	probably damaging	Het
Thnsl1	T	A	2: 21,212,390	Y318*	probably null	Het
Tmem110	A	G	14: 30,870,819	K166E	probably damaging	Het
Tomm70a	A	G	16: 57,122,130	E90G	probably damaging	Het
Treml4	A	G	17: 48,264,899	D110G	probably damaging	Het
Ttn	A	T	2: 76,811,243	L5176Q	possibly damaging	Het
Txnl1	C	T	18: 63,664,325	G283D	probably damaging	Het
Uba6	T	C	5: 86,135,047	D559G	probably damaging	Het
Usp4	T	C	9: 108,356,462	V94A	possibly damaging	Het
Vmn2r25	A	C	6: 123,825,296	C549W	probably damaging	Het
Vmn2r59	G	T	7: 42,045,681	Q436K	probably benign	Het
Wdr70	A	T	15: 7,884,288	Y627N	possibly damaging	Het
Xpr1	T	C	1: 155,312,863	I344V	probably benign	Het
Zfp423	T	A	8: 87,859,340	Q61L	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
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
R9746:Slc4a8	UTSW	15	100783840	missense	probably damaging	1.00
Z1088:Slc4a8	UTSW	15	100761951	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AACGTTTCTCCAGCTTCCAG -3'
(R):5'- ATCTCTGTCCATGGAGTGCG -3'

Sequencing Primer
(F):5'- CTGGAATTCACTCTGTAGACCAGG -3'
(R):5'- GGGTCAGACTGCTTCTTGCC -3'

Posted On

2017-08-28