Mutagenetix > Incidental Mutation

Incidental Mutation 'R1955:Slc4a8'

217717

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

039969-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.188) question?

Stock #

R1955 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

100659628-100721849 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 100705257 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 821 (I821T)

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: I873T

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

SMART Domains

Protein: ENSMUSP00000023776
Gene: ENSMUSG00000023032
AA Change: I873T

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: I821T

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

SMART Domains

Protein: ENSMUSP00000125090
Gene: ENSMUSG00000023032
AA Change: I821T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162483

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162805

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.9%

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: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019A02Rik	T	A	1: 53,202,400 (GRCm39)	K128N	probably benign	Het
Acadm	A	C	3: 153,635,188 (GRCm39)	F309V	probably damaging	Het
Adam6b	C	A	12: 113,455,436 (GRCm39)	A751E	probably benign	Het
Adcy9	A	G	16: 4,236,523 (GRCm39)	I296T	possibly damaging	Het
Arhgap45	A	G	10: 79,862,326 (GRCm39)	E471G	probably benign	Het
Atcay	T	C	10: 81,050,627 (GRCm39)	D96G	possibly damaging	Het
B3galt4	T	A	17: 34,169,606 (GRCm39)	R211*	probably null	Het
Bpi	T	C	2: 158,116,635 (GRCm39)	I344T	probably damaging	Het
Btnl4	T	C	17: 34,691,904 (GRCm39)	K233E	possibly damaging	Het
Cars2	A	T	8: 11,600,286 (GRCm39)	Y68N	probably damaging	Het
Cd207	T	A	6: 83,648,757 (GRCm39)	R302W	probably benign	Het
Cdc5l	T	C	17: 45,737,442 (GRCm39)		probably null	Het
Chaf1a	C	T	17: 56,354,540 (GRCm39)	T270I	unknown	Het
Col4a1	C	T	8: 11,258,228 (GRCm39)		probably null	Het
Col7a1	G	T	9: 108,784,732 (GRCm39)	V187L	unknown	Het
Cry1	G	A	10: 84,980,042 (GRCm39)	T422I	probably benign	Het
Csgalnact1	C	T	8: 68,825,319 (GRCm39)	V392I	probably benign	Het
Cyp2c38	A	G	19: 39,393,131 (GRCm39)	L312P	probably damaging	Het
Ddx20	G	A	3: 105,586,878 (GRCm39)	T489M	possibly damaging	Het
Decr1	A	T	4: 15,924,256 (GRCm39)	N221K	probably benign	Het
Dennd4a	A	T	9: 64,759,749 (GRCm39)	T285S	probably benign	Het
Dgka	A	G	10: 128,566,058 (GRCm39)		probably null	Het
Dmd	A	T	X: 82,922,163 (GRCm39)	M1478L	probably benign	Het
Dvl1	G	A	4: 155,942,486 (GRCm39)	R584Q	possibly damaging	Het
Dync1li1	A	T	9: 114,550,814 (GRCm39)	S450C	probably damaging	Het
Ehbp1l1	A	G	19: 5,760,697 (GRCm39)	V1558A	possibly damaging	Het
Esr1	T	A	10: 4,807,125 (GRCm39)	M347K	probably damaging	Het
F2	T	A	2: 91,463,440 (GRCm39)	H148L	probably benign	Het
Fezf2	T	C	14: 12,342,644 (GRCm38)	N407S	probably benign	Het
Fscn3	T	A	6: 28,430,235 (GRCm39)	M135K	possibly damaging	Het
Ganab	T	G	19: 8,888,980 (GRCm39)	Y560*	probably null	Het
Garem2	T	C	5: 30,313,268 (GRCm39)	V44A	probably benign	Het
Gja4	A	G	4: 127,206,242 (GRCm39)	W174R	probably damaging	Het
Gja5	A	T	3: 96,958,957 (GRCm39)	H338L	probably benign	Het
Gm43517	A	G	12: 49,436,672 (GRCm39)		probably benign	Het
Iqch	A	T	9: 63,455,298 (GRCm39)	D166E	probably benign	Het
Kifc5b	T	A	17: 27,145,271 (GRCm39)		probably null	Het
Kmt2b	A	T	7: 30,274,776 (GRCm39)	M1976K	possibly damaging	Het
Leng1	A	T	7: 3,668,415 (GRCm39)	V11D	probably damaging	Het
Lrit3	A	G	3: 129,594,130 (GRCm39)	V149A	probably benign	Het
Lrpap1	A	G	5: 35,259,756 (GRCm39)	L114P	probably damaging	Het
Marveld3	T	A	8: 110,686,380 (GRCm39)	D162V	probably benign	Het
Mon2	A	T	10: 122,874,388 (GRCm39)	I320N	probably damaging	Het
Morc2b	T	C	17: 33,356,464 (GRCm39)	Y436C	probably damaging	Het
Myo7a	A	T	7: 97,704,128 (GRCm39)	V1928D	probably damaging	Het
Ncoa6	A	G	2: 155,248,741 (GRCm39)	V1521A	possibly damaging	Het
Nexmif	A	G	X: 103,127,559 (GRCm39)	S1453P	possibly damaging	Het
Nudt16l1	A	G	16: 4,758,189 (GRCm39)	M182V	probably benign	Het
Obp2b	A	T	2: 25,628,563 (GRCm39)	I106L	probably benign	Het
Or10ag59	T	A	2: 87,406,349 (GRCm39)	L307Q	probably damaging	Het
Or4a2	T	A	2: 89,248,755 (GRCm39)	M1L	probably damaging	Het
Or5h18	T	A	16: 58,847,774 (GRCm39)	R165S	probably damaging	Het
Or8b43	T	C	9: 38,360,984 (GRCm39)	I272T	probably benign	Het
Parl	T	A	16: 20,121,077 (GRCm39)	M1L	possibly damaging	Het
Pde7a	G	A	3: 19,281,963 (GRCm39)	A429V	probably damaging	Het
Pkd1l2	T	A	8: 117,770,100 (GRCm39)	M1119L	probably benign	Het
Plch1	C	T	3: 63,662,688 (GRCm39)	V272I	probably damaging	Het
Plekha4	G	A	7: 45,203,330 (GRCm39)	G740D	probably damaging	Het
Pnliprp1	A	G	19: 58,723,404 (GRCm39)	D265G	possibly damaging	Het
Pola1	A	C	X: 92,640,867 (GRCm39)	V384G	probably damaging	Het
Pon3	T	A	6: 5,230,774 (GRCm39)	D251V	probably benign	Het
Pot1b	A	G	17: 55,981,067 (GRCm39)	C316R	possibly damaging	Het
Prkaca	T	A	8: 84,714,946 (GRCm39)	V116E	probably damaging	Het
Prpf6	T	G	2: 181,273,870 (GRCm39)	M338R	probably benign	Het
Rasgef1c	A	G	11: 49,866,542 (GRCm39)	H382R	possibly damaging	Het
Rlig1	A	G	10: 100,413,166 (GRCm39)	V91A	probably damaging	Het
Rps25	C	T	9: 44,321,305 (GRCm39)	T113I	probably benign	Het
Serpinb1b	G	T	13: 33,269,422 (GRCm39)	A52S	probably benign	Het
Sh3yl1	A	G	12: 30,972,332 (GRCm39)	K34E	possibly damaging	Het
Siah2	C	T	3: 58,583,518 (GRCm39)	R256Q	probably damaging	Het
Slc24a2	A	G	4: 86,991,481 (GRCm39)	L404P	probably damaging	Het
Slc28a2	G	A	2: 122,278,347 (GRCm39)	C122Y	probably benign	Het
Slc5a3	T	C	16: 91,874,762 (GRCm39)	V273A	possibly damaging	Het
Spag7	T	C	11: 70,555,844 (GRCm39)	Q61R	probably benign	Het
Syt7	A	T	19: 10,395,402 (GRCm39)	I71F	probably damaging	Het
Tars2	T	C	3: 95,654,766 (GRCm39)	N413S	probably damaging	Het
Tex14	T	A	11: 87,400,447 (GRCm39)	L413Q	probably damaging	Het
Tjp3	T	C	10: 81,113,833 (GRCm39)	E475G	probably damaging	Het
Tmem131l	A	G	3: 83,868,851 (GRCm39)	S175P	probably damaging	Het
Tmem144	C	T	3: 79,734,164 (GRCm39)	V180M	probably benign	Het
Tmem200c	A	T	17: 69,147,956 (GRCm39)	I180F	probably damaging	Het
Tmem232	G	T	17: 65,791,482 (GRCm39)	H129N	probably benign	Het
Tmprss11g	T	A	5: 86,646,391 (GRCm39)	I59F	probably damaging	Het
Tmprss2	T	A	16: 97,368,377 (GRCm39)		probably null	Het
Tor1aip2	T	A	1: 155,927,588 (GRCm39)		probably benign	Het
Trim61	T	C	8: 65,466,044 (GRCm39)	I406V	possibly damaging	Het
Trpv5	T	C	6: 41,634,871 (GRCm39)	D486G	probably damaging	Het
Try5	T	C	6: 41,288,703 (GRCm39)	E64G	probably benign	Het
Txlnb	A	G	10: 17,675,168 (GRCm39)	E107G	probably damaging	Het
Ube2frt	A	G	12: 36,140,595 (GRCm39)		probably benign	Het
Uckl1	T	C	2: 181,212,320 (GRCm39)	Q332R	probably benign	Het
Ugt2b1	T	C	5: 87,065,572 (GRCm39)	Y489C	probably damaging	Het
Ugt2b5	T	A	5: 87,275,631 (GRCm39)	M407L	probably benign	Het
Vmn1r191	A	T	13: 22,362,985 (GRCm39)	S256R	possibly damaging	Het
Vps13b	T	G	15: 35,925,554 (GRCm39)		probably null	Het
Vps13d	A	G	4: 144,882,713 (GRCm39)	F960S	probably damaging	Het
Xab2	T	A	8: 3,666,094 (GRCm39)	D227V	probably damaging	Het
Xaf1	A	T	11: 72,197,432 (GRCm39)	D136V	possibly damaging	Het
Zan	A	G	5: 137,387,545 (GRCm39)	S4889P	unknown	Het
Zfp78	A	G	7: 6,381,558 (GRCm39)	T203A	probably benign	Het
Zfp821	T	C	8: 110,447,874 (GRCm39)	S72P	probably 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
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
R9746:Slc4a8	UTSW	15	100,681,721 (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'- GTTATATGGCCTACTCCCGC -3'
(R):5'- TTCTTCCAGGGCATGCATCTG -3'

Sequencing Primer
(F):5'- ACTGAGGGTGACTCTCTCC -3'
(R):5'- GTGTGTGTATATATCCTGGAGCCAC -3'

Posted On

2014-08-01