Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03259:Slc4a5'

414759

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 #

IGL03259

Quality Score

Status

Chromosome

Chromosomal Location

83196810-83281927 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 83247979 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 395 (H395R)

Ref Sequence

ENSEMBL: ENSMUSP00000109532 (fasta)

Gene Model

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

AlphaFold

E9Q3M5

Predicted Effect

probably damaging
Transcript: ENSMUST00000039212
AA Change: H395R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000041007
Gene: ENSMUSG00000068323
AA Change: H395R

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 damaging
Transcript: ENSMUST00000113899
AA Change: H395R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000109532
Gene: ENSMUSG00000068323
AA Change: H395R

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 damaging
Transcript: ENSMUST00000113900
AA Change: H510R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000109533
Gene: ENSMUSG00000068323
AA Change: H510R

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

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp8a1	T	C	5: 67,781,349 (GRCm39)		probably null	Het
Btbd3	T	C	2: 138,121,680 (GRCm39)	M121T	probably damaging	Het
Cep192	A	T	18: 67,953,483 (GRCm39)	N500I	probably damaging	Het
Clca4a	A	G	3: 144,663,841 (GRCm39)	L534P	probably damaging	Het
Cyp2d11	C	T	15: 82,274,221 (GRCm39)	V387M	probably damaging	Het
Dlgap3	T	C	4: 127,094,077 (GRCm39)	I443T	probably benign	Het
Heatr5b	T	A	17: 79,098,985 (GRCm39)	D1305V	probably damaging	Het
Hps5	G	T	7: 46,412,526 (GRCm39)	P1021Q	probably damaging	Het
Iqca1	T	C	1: 89,980,156 (GRCm39)	D637G	probably damaging	Het
Kank1	A	G	19: 25,407,705 (GRCm39)	D1233G	probably damaging	Het
Lad1	A	T	1: 135,755,394 (GRCm39)	R223S	probably benign	Het
Ms4a13	A	G	19: 11,161,210 (GRCm39)	S110P	probably damaging	Het
Nmd3	T	A	3: 69,652,576 (GRCm39)	D387E	possibly damaging	Het
Or1m1	A	G	9: 18,666,811 (GRCm39)	V40A	probably benign	Het
Or7a41	C	A	10: 78,871,234 (GRCm39)	Y201*	probably null	Het
Or8k3b	G	T	2: 86,520,894 (GRCm39)	Q142K	probably benign	Het
Pcgf5	T	A	19: 36,433,059 (GRCm39)	D234E	probably benign	Het
Pcnx2	T	A	8: 126,480,388 (GRCm39)	H1973L	probably benign	Het
Peak1	A	G	9: 56,167,251 (GRCm39)	F226L	probably damaging	Het
Pgp	A	G	17: 24,690,022 (GRCm39)	K180R	probably damaging	Het
Sdk1	A	T	5: 141,938,788 (GRCm39)	K404*	probably null	Het
Serinc5	T	A	13: 92,827,500 (GRCm39)	V272D	probably damaging	Het
Spice1	T	A	16: 44,176,530 (GRCm39)	V40D	probably damaging	Het
Syne2	A	G	12: 76,035,853 (GRCm39)	I3713M	probably benign	Het
Vmn1r58	A	T	7: 5,414,086 (GRCm39)	L48*	probably null	Het
Vwa7	A	G	17: 35,239,002 (GRCm39)		probably null	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
IGL00861:Slc4a5	APN	6	83,276,453 (GRCm39)	missense	probably benign
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
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

2016-08-02