Mutagenetix > Incidental Mutation

Incidental Mutation 'R9457:Slc4a8'

714684

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?

Probably non essential (E-score: 0.202) question?

Stock #

R9457 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

100761747-100823968 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 100806260 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 764 (D764G)

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: D764G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000023776
Gene: ENSMUSG00000023032
AA Change: D764G

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: D712G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000125090
Gene: ENSMUSG00000023032
AA Change: D712G

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930430A15Rik	A	T	2: 111,170,286 (GRCm38)	M196K	unknown	Het
A930009A15Rik	T	C	10: 115,578,331 (GRCm38)	L54P	unknown	Het
Ablim3	A	G	18: 61,845,849 (GRCm38)	S204P	probably benign	Het
Acadl	A	G	1: 66,853,241 (GRCm38)	V141A	probably benign	Het
Ace3	A	G	11: 105,994,861 (GRCm38)	D31G	probably benign	Het
Acte1	T	C	7: 143,883,976 (GRCm38)	V137A	possibly damaging	Het
Adam11	T	G	11: 102,769,898 (GRCm38)	V85G	probably benign	Het
Adarb1	A	T	10: 77,322,148 (GRCm38)	M155K	possibly damaging	Het
Arhgap10	G	A	8: 77,384,786 (GRCm38)	T376M	probably benign	Het
Bod1l	G	T	5: 41,821,967 (GRCm38)	T668K	probably damaging	Het
Ccdc87	A	G	19: 4,841,631 (GRCm38)	E717G	probably damaging	Het
Cdh17	T	A	4: 11,771,329 (GRCm38)	I37N	probably damaging	Het
Cfap99	T	G	5: 34,301,397 (GRCm38)	F45L	probably benign	Het
Chsy1	C	A	7: 66,172,400 (GRCm38)	H794Q	probably benign	Het
Clec4a3	G	A	6: 122,954,086 (GRCm38)	V45I	probably benign	Het
Clic3	G	A	2: 25,457,718 (GRCm38)	V32I	probably benign	Het
Clip2	A	T	5: 134,502,730 (GRCm38)	D740E	probably benign	Het
Col5a2	C	T	1: 45,386,844 (GRCm38)	V1062I	probably benign	Het
Col5a2	A	G	1: 45,392,813 (GRCm38)		probably null	Het
Cyp2j11	C	T	4: 96,307,359 (GRCm38)	V367I	probably damaging	Het
Ddr1	C	T	17: 35,682,758 (GRCm38)	A821T	possibly damaging	Het
Dna2	G	A	10: 62,950,793 (GRCm38)	E107K	probably benign	Het
Eif3d	A	G	15: 77,959,694 (GRCm38)	V484A	probably benign	Het
Fgfr4	A	G	13: 55,161,127 (GRCm38)	T354A	probably benign	Het
Fkbp6	T	C	5: 135,349,632 (GRCm38)	D54G	probably benign	Het
Gm4787	T	A	12: 81,379,246 (GRCm38)	E46V	probably damaging	Het
Gm47995	A	G	1: 151,198,475 (GRCm38)	T10A	possibly damaging	Het
Gnb1l	T	A	16: 18,540,995 (GRCm38)	I50N	probably damaging	Het
Gphb5	A	T	12: 75,415,749 (GRCm38)	V22D	probably damaging	Het
Gstt4	C	T	10: 75,815,125 (GRCm38)	C221Y	probably benign	Het
Hmces	T	C	6: 87,933,274 (GRCm38)	V222A	possibly damaging	Het
Kat14	T	A	2: 144,373,782 (GRCm38)	D62E	probably benign	Het
Kcnmb2	T	A	3: 32,181,869 (GRCm38)	V89E	probably benign	Het
Kif23	T	A	9: 61,944,225 (GRCm38)	N63I	probably benign	Het
Lamc2	T	C	1: 153,139,854 (GRCm38)	M578V	probably benign	Het
Ltbp2	A	T	12: 84,789,153 (GRCm38)	C1335S	probably benign	Het
Lyst	A	G	13: 13,687,745 (GRCm38)	E2622G	possibly damaging	Het
Mctp1	A	T	13: 76,384,674 (GRCm38)	H47L	probably benign	Het
Micalcl	A	G	7: 112,411,458 (GRCm38)	K618R	probably damaging	Het
Mllt6	T	C	11: 97,665,760 (GRCm38)	I92T	probably benign	Het
Morc2a	A	G	11: 3,676,184 (GRCm38)	I223V	probably benign	Het
Msh3	A	T	13: 92,345,086 (GRCm38)	I306N	probably benign	Het
Myo3b	T	A	2: 70,095,209 (GRCm38)	S35T	probably benign	Het
Nfkbiz	A	T	16: 55,813,984 (GRCm38)	V700E	probably damaging	Het
Oit3	T	A	10: 59,441,683 (GRCm38)	M1L	unknown	Het
Or4c1	A	T	2: 89,302,731 (GRCm38)	I287N	probably damaging	Het
Or51l14	T	A	7: 103,451,411 (GRCm38)	F25I	probably benign	Het
Or8k17	A	T	2: 86,236,472 (GRCm38)	I114K	probably damaging	Het
Peg3	T	G	7: 6,707,999 (GRCm38)	D1408A	probably damaging	Het
Plaa	A	C	4: 94,586,883 (GRCm38)	S201R	possibly damaging	Het
Psmd5	A	G	2: 34,854,326 (GRCm38)	S395P	probably benign	Het
Ralgapa2	T	C	2: 146,334,554 (GRCm38)	I1701V	probably damaging	Het
Rmc1	A	G	18: 12,179,246 (GRCm38)	H181R	probably benign	Het
Rnf32	G	A	5: 29,206,186 (GRCm38)	A157T	probably damaging	Het
Rrad	T	A	8: 104,629,727 (GRCm38)		probably null	Het
Samm50	T	A	15: 84,207,841 (GRCm38)	L339Q	probably damaging	Het
Scin	T	C	12: 40,104,958 (GRCm38)	E212G	possibly damaging	Het
Scrib	T	C	15: 76,067,299 (GRCm38)	D146G	probably damaging	Het
Slc19a1	G	A	10: 77,049,771 (GRCm38)	D502N	probably benign	Het
Slc4a4	T	C	5: 89,214,573 (GRCm38)	S839P	probably damaging	Het
Slc6a19	G	A	13: 73,681,765 (GRCm38)	A590V	probably damaging	Het
Slfn8	G	T	11: 83,017,706 (GRCm38)	H4N	probably benign	Het
Smad9	T	A	3: 54,789,335 (GRCm38)	F274I	possibly damaging	Het
Snx4	A	G	16: 33,286,010 (GRCm38)	E271G	probably benign	Het
Spata31h1	A	G	10: 82,286,739 (GRCm38)	V3479A	probably benign	Het
Tektip1	C	A	10: 81,365,777 (GRCm38)	V4L	probably benign	Het
Thap4	G	A	1: 93,750,306 (GRCm38)	R253*	probably null	Het
Tmem65	T	A	15: 58,790,179 (GRCm38)	I144F		Het
Tnrc6a	G	A	7: 123,179,735 (GRCm38)	R1223Q	probably benign	Het
Traf7	CA	CAA	17: 24,527,763 (GRCm38)		probably benign	Het
Trpm2	T	C	10: 77,911,392 (GRCm38)	Y1424C	possibly damaging	Het
Trrap	T	A	5: 144,826,668 (GRCm38)	Y2457N	probably damaging	Het
Vmn1r7	A	G	6: 57,024,523 (GRCm38)	S251P	probably damaging	Het
Vmn2r89	A	T	14: 51,456,012 (GRCm38)	E273V	probably damaging	Het
Vps52	A	G	17: 33,962,182 (GRCm38)	D466G	probably damaging	Het
Xirp2	T	C	2: 67,515,632 (GRCm38)	V2739A	probably benign	Het
Zc3h4	C	T	7: 16,434,750 (GRCm38)	S1003F	unknown	Het
Zyg11a	A	T	4: 108,217,905 (GRCm38)	H6Q	probably damaging	Het

Other mutations in Slc4a8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00502:Slc4a8	APN	15	100,807,438 (GRCm38)	missense	possibly damaging	0.50
IGL01633:Slc4a8	APN	15	100,787,247 (GRCm38)	missense	probably damaging	1.00
IGL02945:Slc4a8	APN	15	100,807,199 (GRCm38)	critical splice acceptor site	probably null
IGL03172:Slc4a8	APN	15	100,799,717 (GRCm38)	missense	probably benign
R0008:Slc4a8	UTSW	15	100,800,493 (GRCm38)	missense	possibly damaging	0.67
R0040:Slc4a8	UTSW	15	100,789,846 (GRCm38)	missense	probably damaging	0.98
R0040:Slc4a8	UTSW	15	100,789,846 (GRCm38)	missense	probably damaging	0.98
R0257:Slc4a8	UTSW	15	100,784,880 (GRCm38)	splice site	probably benign
R0393:Slc4a8	UTSW	15	100,774,638 (GRCm38)	missense	probably damaging	0.99
R0508:Slc4a8	UTSW	15	100,789,092 (GRCm38)	missense	probably benign	0.01
R0639:Slc4a8	UTSW	15	100,796,550 (GRCm38)	missense	probably damaging	1.00
R1640:Slc4a8	UTSW	15	100,783,787 (GRCm38)	missense	probably benign	0.13
R1692:Slc4a8	UTSW	15	100,800,573 (GRCm38)	missense	probably damaging	1.00
R1766:Slc4a8	UTSW	15	100,787,212 (GRCm38)	missense	probably benign	0.00
R1955:Slc4a8	UTSW	15	100,807,376 (GRCm38)	missense	probably damaging	1.00
R2157:Slc4a8	UTSW	15	100,806,373 (GRCm38)	missense	probably damaging	1.00
R2206:Slc4a8	UTSW	15	100,807,445 (GRCm38)	missense	probably damaging	1.00
R2229:Slc4a8	UTSW	15	100,809,299 (GRCm38)	missense	probably damaging	1.00
R2274:Slc4a8	UTSW	15	100,807,402 (GRCm38)	missense	probably benign	0.00
R2275:Slc4a8	UTSW	15	100,807,402 (GRCm38)	missense	probably benign	0.00
R4299:Slc4a8	UTSW	15	100,796,640 (GRCm38)	critical splice donor site	probably null
R4482:Slc4a8	UTSW	15	100,810,599 (GRCm38)	missense	probably damaging	1.00
R5038:Slc4a8	UTSW	15	100,795,821 (GRCm38)	missense	probably damaging	0.98
R5586:Slc4a8	UTSW	15	100,787,164 (GRCm38)	missense	probably damaging	1.00
R5594:Slc4a8	UTSW	15	100,795,887 (GRCm38)	missense	probably damaging	1.00
R5804:Slc4a8	UTSW	15	100,791,625 (GRCm38)	missense	possibly damaging	0.71
R5815:Slc4a8	UTSW	15	100,788,211 (GRCm38)	missense	probably benign	0.42
R5921:Slc4a8	UTSW	15	100,814,447 (GRCm38)	splice site	probably benign
R6029:Slc4a8	UTSW	15	100,807,339 (GRCm38)	missense	probably benign	0.00
R6212:Slc4a8	UTSW	15	100,811,571 (GRCm38)	missense	possibly damaging	0.69
R6321:Slc4a8	UTSW	15	100,789,164 (GRCm38)	missense	probably damaging	0.99
R6574:Slc4a8	UTSW	15	100,807,316 (GRCm38)	missense	probably damaging	1.00
R6829:Slc4a8	UTSW	15	100,800,538 (GRCm38)	missense	probably damaging	1.00
R7023:Slc4a8	UTSW	15	100,791,643 (GRCm38)	missense	probably benign	0.00
R7082:Slc4a8	UTSW	15	100,791,027 (GRCm38)	missense	probably damaging	1.00
R7197:Slc4a8	UTSW	15	100,790,976 (GRCm38)	missense	probably damaging	1.00
R7352:Slc4a8	UTSW	15	100,790,984 (GRCm38)	missense	probably damaging	1.00
R7391:Slc4a8	UTSW	15	100,784,862 (GRCm38)	missense	probably damaging	0.98
R7627:Slc4a8	UTSW	15	100,788,223 (GRCm38)	missense	probably benign	0.08
R7810:Slc4a8	UTSW	15	100,798,178 (GRCm38)	missense	possibly damaging	0.72
R7934:Slc4a8	UTSW	15	100,787,292 (GRCm38)	missense	probably damaging	1.00
R8026:Slc4a8	UTSW	15	100,787,289 (GRCm38)	missense	possibly damaging	0.72
R8308:Slc4a8	UTSW	15	100,795,854 (GRCm38)	missense	probably damaging	0.99
R8504:Slc4a8	UTSW	15	100,803,290 (GRCm38)	missense	possibly damaging	0.56
R8791:Slc4a8	UTSW	15	100,807,253 (GRCm38)	missense	possibly damaging	0.72
R8919:Slc4a8	UTSW	15	100,814,540 (GRCm38)	missense	probably benign	0.02
R9155:Slc4a8	UTSW	15	100,774,690 (GRCm38)	missense	probably damaging	1.00
R9179:Slc4a8	UTSW	15	100,791,601 (GRCm38)	missense	possibly damaging	0.92
R9253:Slc4a8	UTSW	15	100,783,032 (GRCm38)	missense	probably benign	0.18
R9422:Slc4a8	UTSW	15	100,800,588 (GRCm38)	missense	probably benign	0.00
R9746:Slc4a8	UTSW	15	100,783,840 (GRCm38)	missense	probably damaging	1.00
Z1088:Slc4a8	UTSW	15	100,761,951 (GRCm38)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AGAGGATTCACTGCCAAGGG -3'
(R):5'- TTAACCGACTGCGATCTCAGC -3'

Sequencing Primer
(F):5'- ATTCACTGCCAAGGGGGATCTG -3'
(R):5'- ATCTCAGCCTCCCAGGTCAGAG -3'

Posted On

2022-06-15