Mutagenetix > Incidental Mutation

Incidental Mutation 'R2229:Slc4a8'

239631

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

040230-MU

Accession Numbers

Essential gene?

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

Stock #

R2229 (G1)

Quality Score

215

Status

Validated

Chromosome

Chromosomal Location

100659628-100721849 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 100707180 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 848 (I848T)

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: I900T

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

SMART Domains

Protein: ENSMUSP00000023776
Gene: ENSMUSG00000023032
AA Change: I900T

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: I848T

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

SMART Domains

Protein: ENSMUSP00000125090
Gene: ENSMUSG00000023032
AA Change: I848T

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

Meta Mutation Damage Score

0.9062

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

99% (78/79)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam24	A	T	8: 41,133,404 (GRCm39)	I291L	probably benign	Het
Adcy8	C	A	15: 64,694,056 (GRCm39)	R407L	possibly damaging	Het
Adgb	A	T	10: 10,311,795 (GRCm39)	V212E	probably damaging	Het
Adgrg7	C	T	16: 56,572,766 (GRCm39)	S350N	probably benign	Het
Agbl1	A	G	7: 76,083,126 (GRCm39)	T448A	probably benign	Het
Aldh1l1	C	G	6: 90,560,168 (GRCm39)	T605R	probably damaging	Het
Arfip1	A	T	3: 84,455,280 (GRCm39)	N18K	probably damaging	Het
Atp6v1b2	C	A	8: 69,555,411 (GRCm39)		probably null	Het
Banp	G	A	8: 122,705,424 (GRCm39)	S98N	probably damaging	Het
Btnl9	T	C	11: 49,059,945 (GRCm39)	D601G	probably damaging	Het
C9	T	C	15: 6,474,901 (GRCm39)	I20T	possibly damaging	Het
Cacna1b	A	G	2: 24,575,816 (GRCm39)	V744A	probably damaging	Het
Catsper3	A	G	13: 55,955,867 (GRCm39)	E311G	probably damaging	Het
Ccdc180	G	T	4: 45,948,856 (GRCm39)		probably null	Het
Cdc5l	A	G	17: 45,718,772 (GRCm39)	Y615H	probably benign	Het
Crybg2	TGGAGGAGGAGGAGGAGGAG	TGGAGGAGGAGGAGGAG	4: 133,801,837 (GRCm39)		probably benign	Het
Eml4	C	T	17: 83,758,485 (GRCm39)	P502S	probably benign	Het
Fsip1	T	C	2: 118,052,925 (GRCm39)	E367G	probably benign	Het
Gja3	T	C	14: 57,274,171 (GRCm39)	D67G	probably damaging	Het
Gm4894	T	C	9: 49,185,490 (GRCm39)		probably benign	Het
Gm7853	A	G	14: 35,811,484 (GRCm39)		noncoding transcript	Het
Gmps	T	G	3: 63,921,684 (GRCm39)	Y562*	probably null	Het
Golga2	C	A	2: 32,196,477 (GRCm39)	P976T	probably benign	Het
Gpr182	T	A	10: 127,586,010 (GRCm39)	I314F	possibly damaging	Het
Gprc6a	A	G	10: 51,502,891 (GRCm39)	V324A	possibly damaging	Het
Gykl1	A	G	18: 52,828,339 (GRCm39)	T516A	probably benign	Het
H2ac21	T	C	3: 96,127,422 (GRCm39)	L64P	possibly damaging	Het
Ifit1bl2	G	T	19: 34,596,630 (GRCm39)	L329M	possibly damaging	Het
Igsf9b	T	C	9: 27,244,792 (GRCm39)	S920P	probably damaging	Het
Kif3c	T	A	12: 3,416,671 (GRCm39)	S231T	probably benign	Het
Kpna7	A	T	5: 144,926,507 (GRCm39)	Y482N	probably damaging	Het
Lmnb2	T	C	10: 80,740,226 (GRCm39)		probably benign	Het
Lrrc69	T	C	4: 14,773,694 (GRCm39)	S121G	probably benign	Het
Mppe1	A	G	18: 67,361,082 (GRCm39)		probably null	Het
Muc5b	T	A	7: 141,415,381 (GRCm39)	C2776S	possibly damaging	Het
Myh8	T	G	11: 67,199,174 (GRCm39)	N1893K	probably damaging	Het
Myo7a	T	C	7: 97,704,117 (GRCm39)	T1932A	probably benign	Het
Nbn	A	G	4: 15,970,904 (GRCm39)	T296A	probably benign	Het
Nckap1l	T	C	15: 103,364,361 (GRCm39)		probably null	Het
Nek5	A	T	8: 22,603,648 (GRCm39)	N151K	possibly damaging	Het
Nup93	C	T	8: 95,030,819 (GRCm39)	T305I	probably benign	Het
Oca2	T	A	7: 56,006,903 (GRCm39)	H663Q	probably benign	Het
Optn	T	A	2: 5,028,928 (GRCm39)	H525L	probably damaging	Het
Pdzph1	A	G	17: 59,239,407 (GRCm39)		probably benign	Het
Pikfyve	A	G	1: 65,307,014 (GRCm39)	K1801E	probably damaging	Het
Pkd2l2	G	A	18: 34,563,382 (GRCm39)	V478M	probably damaging	Het
Pmepa1	G	A	2: 173,069,926 (GRCm39)	R210W	probably damaging	Het
Ppp1r3c	C	A	19: 36,711,098 (GRCm39)	R224L	probably benign	Het
Prpf19	A	G	19: 10,874,962 (GRCm39)	T39A	probably benign	Het
Pwwp2b	T	C	7: 138,835,104 (GRCm39)	C182R	probably damaging	Het
Rcan3	T	C	4: 135,152,688 (GRCm39)	D11G	probably benign	Het
Rgsl1	C	A	1: 153,698,104 (GRCm39)	W482L	possibly damaging	Het
Sfxn4	C	T	19: 60,839,458 (GRCm39)	G200E	probably damaging	Het
Slc7a13	T	C	4: 19,839,399 (GRCm39)	V334A	probably benign	Het
Smarcc2	A	G	10: 128,324,210 (GRCm39)		probably benign	Het
Spata18	A	T	5: 73,824,244 (GRCm39)	I156L	possibly damaging	Het
Spats2	T	C	15: 99,072,334 (GRCm39)		probably null	Het
Tas2r104	G	A	6: 131,662,095 (GRCm39)	H205Y	probably damaging	Het
Tcof1	A	G	18: 60,965,249 (GRCm39)		probably benign	Het
Tex15	C	A	8: 34,061,265 (GRCm39)	H232N	probably benign	Het
Tg	A	T	15: 66,545,860 (GRCm39)	Q194L	probably damaging	Het
Tnfrsf22	C	T	7: 143,198,513 (GRCm39)		probably null	Het
Trim25	T	A	11: 88,907,447 (GRCm39)	V602E	probably damaging	Het
Ttll9	A	G	2: 152,824,983 (GRCm39)	E54G	probably damaging	Het
Ttn	T	C	2: 76,559,668 (GRCm39)	T29578A	probably damaging	Het
Tubgcp5	A	G	7: 55,480,629 (GRCm39)	Q960R	probably damaging	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Usp13	A	G	3: 32,971,700 (GRCm39)	I727V	probably benign	Het
Vmn2r67	T	A	7: 84,801,250 (GRCm39)	I229F	probably benign	Het
Vmn2r92	A	C	17: 18,387,654 (GRCm39)	I220L	probably benign	Het
Wnk4	T	A	11: 101,166,467 (GRCm39)		probably benign	Het
Wwp1	A	T	4: 19,641,745 (GRCm39)	Y437N	probably damaging	Het
Zdhhc5	A	G	2: 84,520,557 (GRCm39)	I540T	probably damaging	Het
Zfp729b	T	C	13: 67,743,384 (GRCm39)	I60M	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
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
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'- ATGAGACTCTCCGTGGCTTTG -3'
(R):5'- GAAGGGGAACTAATTTCTCAGGAAC -3'

Sequencing Primer
(F):5'- TGGGACATGGTGGTGTTCAC -3'
(R):5'- CCACACGATACCTGGATT -3'

Posted On

2014-10-15