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

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

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.215) question?

Stock #

R9746 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

100659628-100721849 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 100681721 bp (GRCm39)

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: 173,159,598 (GRCm39)	H307L	probably benign	Het
Acnat1	A	T	4: 49,450,652 (GRCm39)	L153H	probably damaging	Het
Actn4	A	T	7: 28,618,431 (GRCm39)	D76E	probably benign	Het
Afdn	A	C	17: 14,066,782 (GRCm39)	M640L	probably benign	Het
Angpt1	A	T	15: 42,539,837 (GRCm39)	F7L	probably benign	Het
Ap3b2	A	G	7: 81,126,092 (GRCm39)	F373S	probably damaging	Het
Armc2	T	A	10: 41,800,457 (GRCm39)	Y650F	probably damaging	Het
Atg2b	G	T	12: 105,630,197 (GRCm39)	T398K	possibly damaging	Het
Baz1a	CCATT	CCATTCATT	12: 55,021,895 (GRCm39)		probably null	Het
Capn8	G	A	1: 182,438,670 (GRCm39)		probably null	Het
Cdr1	AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC	AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC	X: 60,228,130 (GRCm39)		probably benign	Het
Cfap54	T	C	10: 92,637,081 (GRCm39)	N3103D	probably benign	Het
Chd9	G	A	8: 91,738,063 (GRCm39)	R1565Q	unknown	Het
Cir1	G	A	2: 73,134,152 (GRCm39)	T139I	probably damaging	Het
Cmah	T	C	13: 24,619,673 (GRCm39)		probably null	Het
Cnpy1	T	C	5: 28,450,800 (GRCm39)	D2G	probably damaging	Het
Dennd4a	A	T	9: 64,801,793 (GRCm39)	T979S	probably benign	Het
Dnah11	T	A	12: 117,842,311 (GRCm39)	K4423*	probably null	Het
Dnajb4	A	G	3: 151,892,320 (GRCm39)	I171T	possibly damaging	Het
Dpm1	A	T	2: 168,072,307 (GRCm39)		probably null	Het
Dtwd1	A	G	2: 125,996,595 (GRCm39)	T27A	probably benign	Het
Ep400	C	T	5: 110,889,872 (GRCm39)	D464N	unknown	Het
Epb42	A	T	2: 120,855,091 (GRCm39)	I498N	probably benign	Het
Fhod1	A	G	8: 106,064,048 (GRCm39)	V219A	unknown	Het
Gabrb2	A	T	11: 42,517,436 (GRCm39)	E419D	probably benign	Het
Galnt18	A	T	7: 111,071,168 (GRCm39)	N615K	possibly damaging	Het
Gm29106	T	A	1: 118,127,254 (GRCm39)	H315Q	possibly damaging	Het
Gprin2	G	T	14: 33,917,615 (GRCm39)	Q52K	probably benign	Het
Grm4	A	T	17: 27,657,765 (GRCm39)	Y414N	probably damaging	Het
Gulo	C	A	14: 66,225,630 (GRCm39)		probably null	Het
H2-M1	A	C	17: 36,980,997 (GRCm39)	V313G	possibly damaging	Het
Hectd3	T	C	4: 116,852,951 (GRCm39)	W118R	probably damaging	Het
Hs6st3	G	A	14: 120,106,492 (GRCm39)	C300Y	probably damaging	Het
Il1rl2	T	A	1: 40,404,519 (GRCm39)	S547T	possibly damaging	Het
Kank1	G	T	19: 25,386,872 (GRCm39)	V182F	probably damaging	Het
Kif20b	T	A	19: 34,928,149 (GRCm39)	L1137*	probably null	Het
Klhl7	A	G	5: 24,331,818 (GRCm39)		probably null	Het
Krt13	T	A	11: 100,011,987 (GRCm39)	D112V	possibly damaging	Het
Ltbr	A	G	6: 125,290,064 (GRCm39)	V71A	probably benign	Het
Ly6g	T	C	15: 75,030,458 (GRCm39)	V92A	probably benign	Het
Map2k3	G	A	11: 60,822,929 (GRCm39)		probably benign	Het
Mast2	A	C	4: 116,168,927 (GRCm39)	D842E	probably benign	Het
Mpo	T	G	11: 87,694,349 (GRCm39)	M693R	probably benign	Het
Myo15a	C	A	11: 60,378,234 (GRCm39)	S212*	probably null	Het
Nadk2	C	T	15: 9,106,824 (GRCm39)	R37*	probably null	Het
Ncapd3	G	A	9: 26,974,655 (GRCm39)	R709H	probably benign	Het
Nck2	T	A	1: 43,572,892 (GRCm39)	Y55*	probably null	Het
Neurl4	A	G	11: 69,798,301 (GRCm39)	D777G	probably damaging	Het
Npr2	G	A	4: 43,633,527 (GRCm39)	V224M	possibly damaging	Het
Nptx2	T	A	5: 144,484,950 (GRCm39)	S148T	probably benign	Het
Nr1d1	T	C	11: 98,661,160 (GRCm39)	T369A	probably benign	Het
Nub1	T	G	5: 24,908,483 (GRCm39)	F411V	probably damaging	Het
Nup188	T	A	2: 30,194,300 (GRCm39)	Y158N	probably damaging	Het
Or2d36	A	T	7: 106,746,660 (GRCm39)	I46F	probably benign	Het
Or5e1	A	G	7: 108,354,639 (GRCm39)	N192S	probably benign	Het
Or5m8	A	G	2: 85,823,091 (GRCm39)	Y310C	probably benign	Het
Or6c6c	A	T	10: 129,541,208 (GRCm39)	I154F	probably damaging	Het
Or8c19-ps1	T	A	9: 38,220,928 (GRCm39)	I279K	unknown	Het
Orc2	C	T	1: 58,536,610 (GRCm39)	G85S	probably damaging	Het
Pak1ip1	T	A	13: 41,162,743 (GRCm39)	V182D	probably damaging	Het
Parvg	T	G	15: 84,210,424 (GRCm39)	C30W	probably benign	Het
Pcdha1	T	A	18: 37,065,713 (GRCm39)	D792E	probably benign	Het
Ppp1r13b	G	T	12: 111,800,242 (GRCm39)	Q635K	probably benign	Het
Pramel26	T	C	4: 143,536,886 (GRCm39)	T482A	probably benign	Het
Psg16	A	G	7: 16,832,086 (GRCm39)	I341V	probably benign	Het
Psme4	C	T	11: 30,826,868 (GRCm39)	Q1796*	probably null	Het
Ptn	T	G	6: 36,692,699 (GRCm39)		probably null	Het
Rapsn	C	T	2: 90,875,823 (GRCm39)	P400L	probably damaging	Het
Rasal1	G	A	5: 120,800,358 (GRCm39)	G207D	probably damaging	Het
Rdx	A	G	9: 51,974,878 (GRCm39)	I5V	probably benign	Het
Rpf1	A	G	3: 146,223,533 (GRCm39)	I105T	probably damaging	Het
Rps15a	A	T	7: 117,709,220 (GRCm39)	F79I	possibly damaging	Het
Rwdd2b	G	A	16: 87,233,641 (GRCm39)	P153L	probably benign	Het
Scaf11	G	A	15: 96,318,298 (GRCm39)	S422L	probably damaging	Het
Serpinb3b	T	A	1: 107,082,403 (GRCm39)	E287V	possibly damaging	Het
Sgta	T	C	10: 80,887,118 (GRCm39)	D49G	possibly damaging	Het
Sin3a	T	A	9: 57,025,358 (GRCm39)	M1068K	probably benign	Het
Slc12a9	G	A	5: 137,319,671 (GRCm39)	R615W	probably damaging	Het
Slc26a3	T	A	12: 31,499,145 (GRCm39)	S151T	probably benign	Het
Syngr1	G	A	15: 79,975,659 (GRCm39)	R22K	probably benign	Het
Tars2	A	T	3: 95,662,077 (GRCm39)	V25E	probably benign	Het
Tbx15	A	G	3: 99,259,647 (GRCm39)	Y506C	probably damaging	Het
Tgm4	A	T	9: 122,875,634 (GRCm39)	K162N	possibly damaging	Het
Tmem253	A	G	14: 52,255,439 (GRCm39)	E83G	probably damaging	Het
Trp73	G	A	4: 154,165,859 (GRCm39)	T118I	probably damaging	Het
Trpm7	A	G	2: 126,664,578 (GRCm39)	S934P	possibly damaging	Het
Ttc23l	G	A	15: 10,523,729 (GRCm39)	S330L	probably benign	Het
Tub	A	C	7: 108,624,845 (GRCm39)	D199A	probably benign	Het
Uri1	A	C	7: 37,696,110 (GRCm39)		probably null	Het
Usp16	C	T	16: 87,276,120 (GRCm39)	A486V	probably benign	Het
Vmn1r12	A	G	6: 57,136,526 (GRCm39)	I208V	probably benign	Het
Vmn2r116	A	T	17: 23,620,797 (GRCm39)	M844L	probably benign	Het
Vmn2r13	C	T	5: 109,339,773 (GRCm39)		probably null	Het
Xpnpep1	T	C	19: 53,001,892 (GRCm39)	D118G	probably damaging	Het
Zfp111	G	A	7: 23,898,067 (GRCm39)	P516S	possibly damaging	Het

Other mutations in Slc4a8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00502:Slc4a8	APN	15	100,705,319 (GRCm39)	missense	possibly damaging	0.50
IGL01633:Slc4a8	APN	15	100,685,128 (GRCm39)	missense	probably damaging	1.00
IGL02945:Slc4a8	APN	15	100,705,080 (GRCm39)	critical splice acceptor site	probably null
IGL03172:Slc4a8	APN	15	100,697,598 (GRCm39)	missense	probably benign
R0008:Slc4a8	UTSW	15	100,698,374 (GRCm39)	missense	possibly damaging	0.67
R0040:Slc4a8	UTSW	15	100,687,727 (GRCm39)	missense	probably damaging	0.98
R0040:Slc4a8	UTSW	15	100,687,727 (GRCm39)	missense	probably damaging	0.98
R0257:Slc4a8	UTSW	15	100,682,761 (GRCm39)	splice site	probably benign
R0393:Slc4a8	UTSW	15	100,672,519 (GRCm39)	missense	probably damaging	0.99
R0508:Slc4a8	UTSW	15	100,686,973 (GRCm39)	missense	probably benign	0.01
R0639:Slc4a8	UTSW	15	100,694,431 (GRCm39)	missense	probably damaging	1.00
R1640:Slc4a8	UTSW	15	100,681,668 (GRCm39)	missense	probably benign	0.13
R1692:Slc4a8	UTSW	15	100,698,454 (GRCm39)	missense	probably damaging	1.00
R1766:Slc4a8	UTSW	15	100,685,093 (GRCm39)	missense	probably benign	0.00
R1955:Slc4a8	UTSW	15	100,705,257 (GRCm39)	missense	probably damaging	1.00
R2157:Slc4a8	UTSW	15	100,704,254 (GRCm39)	missense	probably damaging	1.00
R2206:Slc4a8	UTSW	15	100,705,326 (GRCm39)	missense	probably damaging	1.00
R2229:Slc4a8	UTSW	15	100,707,180 (GRCm39)	missense	probably damaging	1.00
R2274:Slc4a8	UTSW	15	100,705,283 (GRCm39)	missense	probably benign	0.00
R2275:Slc4a8	UTSW	15	100,705,283 (GRCm39)	missense	probably benign	0.00
R4299:Slc4a8	UTSW	15	100,694,521 (GRCm39)	critical splice donor site	probably null
R4482:Slc4a8	UTSW	15	100,708,480 (GRCm39)	missense	probably damaging	1.00
R5038:Slc4a8	UTSW	15	100,693,702 (GRCm39)	missense	probably damaging	0.98
R5586:Slc4a8	UTSW	15	100,685,045 (GRCm39)	missense	probably damaging	1.00
R5594:Slc4a8	UTSW	15	100,693,768 (GRCm39)	missense	probably damaging	1.00
R5804:Slc4a8	UTSW	15	100,689,506 (GRCm39)	missense	possibly damaging	0.71
R5815:Slc4a8	UTSW	15	100,686,092 (GRCm39)	missense	probably benign	0.42
R5921:Slc4a8	UTSW	15	100,712,328 (GRCm39)	splice site	probably benign
R6029:Slc4a8	UTSW	15	100,705,220 (GRCm39)	missense	probably benign	0.00
R6212:Slc4a8	UTSW	15	100,709,452 (GRCm39)	missense	possibly damaging	0.69
R6321:Slc4a8	UTSW	15	100,687,045 (GRCm39)	missense	probably damaging	0.99
R6574:Slc4a8	UTSW	15	100,705,197 (GRCm39)	missense	probably damaging	1.00
R6829:Slc4a8	UTSW	15	100,698,419 (GRCm39)	missense	probably damaging	1.00
R7023:Slc4a8	UTSW	15	100,689,524 (GRCm39)	missense	probably benign	0.00
R7082:Slc4a8	UTSW	15	100,688,908 (GRCm39)	missense	probably damaging	1.00
R7197:Slc4a8	UTSW	15	100,688,857 (GRCm39)	missense	probably damaging	1.00
R7352:Slc4a8	UTSW	15	100,688,865 (GRCm39)	missense	probably damaging	1.00
R7391:Slc4a8	UTSW	15	100,682,743 (GRCm39)	missense	probably damaging	0.98
R7627:Slc4a8	UTSW	15	100,686,104 (GRCm39)	missense	probably benign	0.08
R7810:Slc4a8	UTSW	15	100,696,059 (GRCm39)	missense	possibly damaging	0.72
R7934:Slc4a8	UTSW	15	100,685,173 (GRCm39)	missense	probably damaging	1.00
R8026:Slc4a8	UTSW	15	100,685,170 (GRCm39)	missense	possibly damaging	0.72
R8308:Slc4a8	UTSW	15	100,693,735 (GRCm39)	missense	probably damaging	0.99
R8504:Slc4a8	UTSW	15	100,701,171 (GRCm39)	missense	possibly damaging	0.56
R8791:Slc4a8	UTSW	15	100,705,134 (GRCm39)	missense	possibly damaging	0.72
R8919:Slc4a8	UTSW	15	100,712,421 (GRCm39)	missense	probably benign	0.02
R9155:Slc4a8	UTSW	15	100,672,571 (GRCm39)	missense	probably damaging	1.00
R9179:Slc4a8	UTSW	15	100,689,482 (GRCm39)	missense	possibly damaging	0.92
R9253:Slc4a8	UTSW	15	100,680,913 (GRCm39)	missense	probably benign	0.18
R9422:Slc4a8	UTSW	15	100,698,469 (GRCm39)	missense	probably benign	0.00
R9457:Slc4a8	UTSW	15	100,704,141 (GRCm39)	missense	probably damaging	1.00
Z1088:Slc4a8	UTSW	15	100,659,832 (GRCm39)	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