Mutagenetix > Incidental Mutation

Incidental Mutation 'R1640:Slc4a8'

173498

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

039676-MU

Accession Numbers

Essential gene?

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

Stock #

R1640 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

100659628-100721849 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 100681668 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 41 (D41G)

Ref Sequence

ENSEMBL: ENSMUSP00000125090 (fasta)

Gene Model

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

AlphaFold

Q8JZR6

Predicted Effect

probably benign
Transcript: ENSMUST00000023776
AA Change: D93G

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000023776
Gene: ENSMUSG00000023032
AA Change: D93G

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 benign
Transcript: ENSMUST00000162049
AA Change: D41G

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000125090
Gene: ENSMUSG00000023032
AA Change: D41G

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: 99.1%
3x: 98.3%
10x: 96.1%
20x: 92.2%

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810004N23Rik	C	A	8: 125,566,584 (GRCm39)	V279L	probably damaging	Het
Acot6	A	T	12: 84,147,900 (GRCm39)	Y52F	probably damaging	Het
Adam22	C	T	5: 8,195,689 (GRCm39)	V284I	probably damaging	Het
Agl	A	T	3: 116,545,739 (GRCm39)	H1352Q	probably benign	Het
Aldh18a1	G	A	19: 40,573,943 (GRCm39)	P27S	probably benign	Het
C1ra	A	G	6: 124,499,233 (GRCm39)	N473S	probably benign	Het
C87436	T	C	6: 86,423,233 (GRCm39)	L269P	probably damaging	Het
Calcrl	A	G	2: 84,164,021 (GRCm39)	V390A	probably damaging	Het
Ccp110	T	G	7: 118,314,751 (GRCm39)		probably null	Het
Cerk	A	G	15: 86,033,601 (GRCm39)	V274A	probably damaging	Het
Chd1l	A	T	3: 97,488,307 (GRCm39)	S570T	probably benign	Het
Chst14	T	A	2: 118,757,379 (GRCm39)	W83R	probably damaging	Het
Chsy1	A	T	7: 65,821,262 (GRCm39)	D499V	probably benign	Het
Ckmt1	C	A	2: 121,190,198 (GRCm39)		probably null	Het
Cnot1	A	T	8: 96,496,460 (GRCm39)	V282D	probably damaging	Het
Cntn3	A	T	6: 102,218,974 (GRCm39)	S549T	possibly damaging	Het
Cntnap5c	A	T	17: 58,702,289 (GRCm39)	D1203V	probably benign	Het
Col4a4	A	G	1: 82,513,491 (GRCm39)	Y169H	unknown	Het
Cwc22	A	G	2: 77,745,874 (GRCm39)	F454S	possibly damaging	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dhrs7	A	T	12: 72,699,089 (GRCm39)	W298R	possibly damaging	Het
Dock7	G	T	4: 98,833,483 (GRCm39)	T1906N	probably damaging	Het
Dpy19l3	T	C	7: 35,449,203 (GRCm39)	T67A	probably benign	Het
Drc1	A	G	5: 30,521,301 (GRCm39)	D654G	possibly damaging	Het
Ech1	A	T	7: 28,531,264 (GRCm39)	H284L	probably damaging	Het
Epc1	G	A	18: 6,441,175 (GRCm39)	Q8*	probably null	Het
Etv5	A	T	16: 22,254,664 (GRCm39)	D65E	probably damaging	Het
F2rl3	A	G	8: 73,489,534 (GRCm39)	R254G	probably benign	Het
Fabp5	T	G	3: 10,080,170 (GRCm39)	F73L	probably benign	Het
Fbrs	T	C	7: 127,086,483 (GRCm39)	I611T	probably damaging	Het
Flnc	T	C	6: 29,433,806 (GRCm39)	S117P	possibly damaging	Het
Frmd4b	A	C	6: 97,285,634 (GRCm39)	S291A	possibly damaging	Het
Galnt13	A	G	2: 54,950,558 (GRCm39)	Y413C	probably damaging	Het
Gfer	A	G	17: 24,914,337 (GRCm39)	Y109H	possibly damaging	Het
Gli2	T	C	1: 118,764,254 (GRCm39)	H1299R	possibly damaging	Het
Gm10110	T	C	14: 90,135,679 (GRCm39)		noncoding transcript	Het
Gprc5a	T	G	6: 135,055,652 (GRCm39)	L33W	probably damaging	Het
Grin3a	T	C	4: 49,844,721 (GRCm39)	T121A	probably benign	Het
Grk3	A	G	5: 113,163,248 (GRCm39)	V33A	probably benign	Het
Hc	A	T	2: 34,947,336 (GRCm39)	Y59*	probably null	Het
Hrnr	A	G	3: 93,239,823 (GRCm39)	I3354V	unknown	Het
Hyou1	C	G	9: 44,300,703 (GRCm39)	T924S	probably benign	Het
Ifi209	T	G	1: 173,464,931 (GRCm39)	H20Q	probably damaging	Het
Ifi44	A	G	3: 151,438,171 (GRCm39)	V372A	probably benign	Het
Igdcc4	T	A	9: 65,030,077 (GRCm39)	L328H	probably damaging	Het
Jkampl	A	G	6: 73,445,869 (GRCm39)	Y227H	probably benign	Het
Kif18a	A	G	2: 109,120,161 (GRCm39)	T155A	probably benign	Het
Kmt2d	A	G	15: 98,742,938 (GRCm39)		probably benign	Het
Kri1	T	C	9: 21,191,753 (GRCm39)	D281G	possibly damaging	Het
Larp1b	T	A	3: 40,988,507 (GRCm39)	M1K	probably null	Het
Loxhd1	A	G	18: 77,490,259 (GRCm39)	D1225G	probably damaging	Het
Mzf1	A	G	7: 12,777,197 (GRCm39)	*736Q	probably null	Het
Naip2	C	T	13: 100,298,489 (GRCm39)	A516T	possibly damaging	Het
Ncf2	T	A	1: 152,683,784 (GRCm39)	M1K	probably null	Het
Or5t15	T	A	2: 86,681,571 (GRCm39)	H157L	probably benign	Het
Or8h10	A	C	2: 86,808,963 (GRCm39)	M59R	probably damaging	Het
Parp12	T	C	6: 39,073,574 (GRCm39)	D417G	probably benign	Het
Parp12	T	C	6: 39,088,612 (GRCm39)	H208R	probably damaging	Het
Pcif1	T	C	2: 164,727,603 (GRCm39)	I132T	probably benign	Het
Pck2	A	G	14: 55,786,041 (GRCm39)	D610G	possibly damaging	Het
Plbd1	T	C	6: 136,617,123 (GRCm39)	K185E	probably benign	Het
Ppp2r5a	T	C	1: 191,086,126 (GRCm39)	M425V	probably damaging	Het
Rapgef6	T	A	11: 54,548,231 (GRCm39)	V805D	probably damaging	Het
Rprd2	C	T	3: 95,671,059 (GRCm39)		probably benign	Het
Ryr3	A	G	2: 112,731,178 (GRCm39)	S711P	probably damaging	Het
Slc17a3	T	A	13: 24,036,340 (GRCm39)	L212*	probably null	Het
Slc9a3	T	A	13: 74,306,937 (GRCm39)	V354E	probably damaging	Het
Spen	A	G	4: 141,196,254 (GRCm39)	I3632T	probably damaging	Het
Tesc	A	G	5: 118,192,914 (GRCm39)	S77G	probably benign	Het
Tet3	A	T	6: 83,346,297 (GRCm39)	V1245D	probably benign	Het
Tox4	T	A	14: 52,530,000 (GRCm39)	D553E	possibly damaging	Het
Tpmt	A	T	13: 47,180,759 (GRCm39)	Y193*	probably null	Het
Trio	T	C	15: 27,833,130 (GRCm39)	Y1169C	probably damaging	Het
Urb1	G	A	16: 90,569,514 (GRCm39)	T1404I	probably benign	Het
Usp47	T	C	7: 111,682,334 (GRCm39)	S540P	probably damaging	Het
Vmn1r178	A	T	7: 23,593,548 (GRCm39)	M126L	possibly damaging	Het
Vmn1r223	T	C	13: 23,434,348 (GRCm39)	F314S	probably damaging	Het
Vmn2r112	A	T	17: 22,824,097 (GRCm39)	I451L	probably benign	Het
Zfc3h1	A	G	10: 115,242,806 (GRCm39)		probably null	Het
Zfp503	A	T	14: 22,034,969 (GRCm39)	L649Q	probably damaging	Het
Zfp977	A	C	7: 42,229,530 (GRCm39)	C332G	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
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
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'- AGTTGACAGCTCTGCTCCCTTGTG -3'
(R):5'- GCCAACTGGCCTGTTTAACTCTGC -3'

Sequencing Primer
(F):5'- GGCCATGCTTCCACAGG -3'
(R):5'- GTTTAACTCTGCCACGGAAAATG -3'

Posted On

2014-04-24