Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00861:Slc4a5'

14108

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc4a5

Ensembl Gene

ENSMUSG00000068323

Gene Name

solute carrier family 4, sodium bicarbonate cotransporter, member 5

Synonyms

C330016K18Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.185) question?

Stock #

IGL00861

Quality Score

Status

Chromosome

Chromosomal Location

83196810-83281927 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 83276453 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 1093 (I1093V)

Ref Sequence

ENSEMBL: ENSMUSP00000109533 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039212] [ENSMUST00000113899] [ENSMUST00000113900]

AlphaFold

E9Q3M5

Predicted Effect

probably benign
Transcript: ENSMUST00000039212
AA Change: I978V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000041007
Gene: ENSMUSG00000068323
AA Change: I978V

Domain	Start	End	E-Value	Type
Pfam:Band_3_cyto	25	292	5.2e-102	PFAM
low complexity region	321	350	N/A	INTRINSIC
Pfam:HCO3_cotransp	364	884	1.1e-242	PFAM
transmembrane domain	891	913	N/A	INTRINSIC
low complexity region	936	951	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113899

SMART Domains

Protein: ENSMUSP00000109532
Gene: ENSMUSG00000068323

Domain	Start	End	E-Value	Type
Pfam:Band_3_cyto	25	292	2.9e-102	PFAM
low complexity region	321	350	N/A	INTRINSIC
Pfam:HCO3_cotransp	364	884	5.3e-243	PFAM
transmembrane domain	891	913	N/A	INTRINSIC
low complexity region	936	951	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113900
AA Change: I1093V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000109533
Gene: ENSMUSG00000068323
AA Change: I1093V

Domain	Start	End	E-Value	Type
Pfam:Band_3_cyto	140	407	3.4e-106	PFAM
low complexity region	436	465	N/A	INTRINSIC
Pfam:HCO3_cotransp	480	999	1.6e-224	PFAM
transmembrane domain	1006	1028	N/A	INTRINSIC
low complexity region	1051	1066	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131432

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the sodium bicarbonate cotransporter (NBC) family, part of the bicarbonate transporter superfamily. Sodium bicarbonate cotransporters are involved in intracellular pH regulation and electroneural or electrogenic sodium bicarbonate transport. This protein is thought to be an integral membrane protein. Multiple transcript variants encoding different isoforms have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit arterial hypertension and renal metabolic acidosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adm2	G	A	15: 89,207,488 (GRCm39)		probably benign	Het
Ambra1	T	A	2: 91,601,271 (GRCm39)	D189E	possibly damaging	Het
Atg16l1	G	A	1: 87,702,560 (GRCm39)	G274S	probably damaging	Het
Cdh20	C	A	1: 109,988,718 (GRCm39)		probably benign	Het
Chat	T	C	14: 32,170,980 (GRCm39)	Y173C	probably damaging	Het
Crygd	C	T	1: 65,101,250 (GRCm39)	R115Q	probably benign	Het
Ctnnd1	T	C	2: 84,434,096 (GRCm39)	D874G	probably damaging	Het
Dbt	G	A	3: 116,339,763 (GRCm39)	G384S	probably benign	Het
Depdc5	T	C	5: 33,125,158 (GRCm39)		probably null	Het
Eef1b2	G	A	1: 63,217,665 (GRCm39)	G91R	probably damaging	Het
Fut10	G	T	8: 31,725,733 (GRCm39)	V163F	probably damaging	Het
Glmn	A	T	5: 107,718,005 (GRCm39)	M304K	possibly damaging	Het
Klra6	A	G	6: 130,000,663 (GRCm39)	V47A	possibly damaging	Het
Lgi2	T	C	5: 52,695,463 (GRCm39)	K491E	probably benign	Het
Lrrc72	T	A	12: 36,271,507 (GRCm39)	Q138L	probably benign	Het
Nherf4	A	G	9: 44,160,933 (GRCm39)	L211P	possibly damaging	Het
Nxph2	T	A	2: 23,289,974 (GRCm39)	F109I	probably damaging	Het
Oosp3	A	G	19: 11,689,004 (GRCm39)	D84G	probably benign	Het
Poc1b	C	T	10: 98,965,514 (GRCm39)	R106C	probably benign	Het
Ptk2	A	G	15: 73,134,396 (GRCm39)	S568P	probably damaging	Het
Snx2	G	A	18: 53,343,869 (GRCm39)		probably null	Het
Washc5	G	T	15: 59,209,125 (GRCm39)	T1033K	probably damaging	Het

Other mutations in Slc4a5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00235:Slc4a5	APN	6	83,262,881 (GRCm39)	missense	probably damaging	1.00
IGL00473:Slc4a5	APN	6	83,273,579 (GRCm39)	missense	probably damaging	1.00
IGL01025:Slc4a5	APN	6	83,239,515 (GRCm39)	missense	probably damaging	0.98
IGL01532:Slc4a5	APN	6	83,250,022 (GRCm39)	splice site	probably null
IGL01991:Slc4a5	APN	6	83,240,525 (GRCm39)	missense	possibly damaging	0.94
IGL02271:Slc4a5	APN	6	83,248,085 (GRCm39)	splice site	probably benign
IGL02565:Slc4a5	APN	6	83,276,487 (GRCm39)	missense	probably benign	0.00
IGL02669:Slc4a5	APN	6	83,240,525 (GRCm39)	missense	possibly damaging	0.79
IGL02994:Slc4a5	APN	6	83,249,106 (GRCm39)	missense	probably damaging	1.00
IGL03259:Slc4a5	APN	6	83,247,979 (GRCm39)	missense	probably damaging	1.00
IGL03264:Slc4a5	APN	6	83,238,507 (GRCm39)	missense	probably damaging	1.00
R0032:Slc4a5	UTSW	6	83,250,139 (GRCm39)	missense	probably damaging	1.00
R0091:Slc4a5	UTSW	6	83,254,537 (GRCm39)	missense	probably benign	0.00
R0281:Slc4a5	UTSW	6	83,244,549 (GRCm39)	splice site	probably benign
R0366:Slc4a5	UTSW	6	83,272,854 (GRCm39)	missense	probably benign	0.02
R0668:Slc4a5	UTSW	6	83,248,054 (GRCm39)	missense	probably damaging	1.00
R1222:Slc4a5	UTSW	6	83,257,114 (GRCm39)	missense	probably damaging	1.00
R1550:Slc4a5	UTSW	6	83,248,039 (GRCm39)	missense	probably damaging	1.00
R1585:Slc4a5	UTSW	6	83,242,669 (GRCm39)	missense	probably damaging	1.00
R1731:Slc4a5	UTSW	6	83,273,617 (GRCm39)	missense	probably damaging	1.00
R1987:Slc4a5	UTSW	6	83,250,214 (GRCm39)	missense	possibly damaging	0.95
R2103:Slc4a5	UTSW	6	83,274,360 (GRCm39)	missense	probably benign	0.00
R2103:Slc4a5	UTSW	6	83,201,663 (GRCm39)	missense	probably benign	0.00
R2104:Slc4a5	UTSW	6	83,274,360 (GRCm39)	missense	probably benign	0.00
R2176:Slc4a5	UTSW	6	83,239,542 (GRCm39)	missense	probably damaging	0.98
R2920:Slc4a5	UTSW	6	83,241,369 (GRCm39)	missense	probably damaging	1.00
R2964:Slc4a5	UTSW	6	83,273,651 (GRCm39)	missense	probably damaging	1.00
R2965:Slc4a5	UTSW	6	83,273,651 (GRCm39)	missense	probably damaging	1.00
R2966:Slc4a5	UTSW	6	83,273,651 (GRCm39)	missense	probably damaging	1.00
R3755:Slc4a5	UTSW	6	83,265,285 (GRCm39)	missense	probably benign	0.26
R3756:Slc4a5	UTSW	6	83,265,285 (GRCm39)	missense	probably benign	0.26
R4293:Slc4a5	UTSW	6	83,237,511 (GRCm39)	missense	probably damaging	1.00
R4789:Slc4a5	UTSW	6	83,247,951 (GRCm39)	missense	probably benign	0.05
R4823:Slc4a5	UTSW	6	83,249,115 (GRCm39)	missense	probably damaging	1.00
R4854:Slc4a5	UTSW	6	83,247,999 (GRCm39)	missense	probably benign	0.00
R5461:Slc4a5	UTSW	6	83,262,836 (GRCm39)	missense	probably benign	0.29
R5707:Slc4a5	UTSW	6	83,238,397 (GRCm39)	missense	probably benign	0.11
R5747:Slc4a5	UTSW	6	83,248,011 (GRCm39)	missense	probably damaging	1.00
R5978:Slc4a5	UTSW	6	83,254,518 (GRCm39)	missense	probably benign	0.01
R6126:Slc4a5	UTSW	6	83,203,247 (GRCm39)	missense	probably benign	0.05
R6330:Slc4a5	UTSW	6	83,203,356 (GRCm39)	missense	probably benign
R6564:Slc4a5	UTSW	6	83,257,042 (GRCm39)	missense	possibly damaging	0.71
R6786:Slc4a5	UTSW	6	83,273,729 (GRCm39)	critical splice donor site	probably null
R7443:Slc4a5	UTSW	6	83,241,297 (GRCm39)	missense	probably benign	0.45
R7672:Slc4a5	UTSW	6	83,237,517 (GRCm39)	missense	probably damaging	1.00
R7690:Slc4a5	UTSW	6	83,262,854 (GRCm39)	missense	probably damaging	1.00
R7837:Slc4a5	UTSW	6	83,238,539 (GRCm39)	missense	probably benign	0.01
R8169:Slc4a5	UTSW	6	83,280,373 (GRCm39)	missense	probably benign	0.12
R8288:Slc4a5	UTSW	6	83,203,237 (GRCm39)	missense	probably benign	0.01
R8397:Slc4a5	UTSW	6	83,266,308 (GRCm39)	critical splice donor site	probably null
R8849:Slc4a5	UTSW	6	83,250,180 (GRCm39)	missense	probably damaging	1.00
R9033:Slc4a5	UTSW	6	83,237,457 (GRCm39)	nonsense	probably null
R9133:Slc4a5	UTSW	6	83,203,217 (GRCm39)	missense	possibly damaging	0.85
R9201:Slc4a5	UTSW	6	83,262,812 (GRCm39)	missense	probably benign	0.02
R9269:Slc4a5	UTSW	6	83,266,223 (GRCm39)	missense	possibly damaging	0.88
R9603:Slc4a5	UTSW	6	83,217,714 (GRCm39)	missense	probably benign	0.34
R9781:Slc4a5	UTSW	6	83,239,466 (GRCm39)	missense	probably benign	0.00
Z1177:Slc4a5	UTSW	6	83,257,015 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-12-06