Mutagenetix > Incidental Mutation

Incidental Mutation 'R1987:Slc4a5'

222649

Institutional Source

Beutler Lab

Gene Symbol

Slc4a5

Ensembl Gene

ENSMUSG00000068323

Gene Name

solute carrier family 4, sodium bicarbonate cotransporter, member 5

Synonyms

C330016K18Rik

MMRRC Submission

039999-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.274) question?

Stock #

R1987 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

83219828-83304945 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 83273232 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 649 (I649T)

Ref Sequence

ENSEMBL: ENSMUSP00000109533 (fasta)

Gene Model

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

AlphaFold

E9Q3M5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000039212
AA Change: I534T

PolyPhen 2 Score 0.671 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000041007
Gene: ENSMUSG00000068323
AA Change: I534T

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

possibly damaging
Transcript: ENSMUST00000113899
AA Change: I534T

PolyPhen 2 Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000109532
Gene: ENSMUSG00000068323
AA Change: I534T

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

possibly damaging
Transcript: ENSMUST00000113900
AA Change: I649T

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000109533
Gene: ENSMUSG00000068323
AA Change: I649T

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: ENSMUST00000141863

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.4%
20x: 92.6%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	A	T	11: 78,268,167 (GRCm38)	Q433L	probably damaging	Het
4932438A13Rik	T	A	3: 36,953,985 (GRCm38)		probably null	Het
Ahnak	A	T	19: 9,015,251 (GRCm38)	D4633V	probably damaging	Het
Akap6	T	C	12: 53,140,795 (GRCm38)	F1664S	possibly damaging	Het
Arhgef28	T	C	13: 97,967,096 (GRCm38)	M803V	probably benign	Het
BC117090	C	A	16: 36,321,832 (GRCm38)	G61C	probably damaging	Het
Ccdc73	T	A	2: 104,931,045 (GRCm38)	L130*	probably null	Het
Ccdc73	A	G	2: 104,999,159 (GRCm38)	E1059G	probably damaging	Het
Ccer2	A	C	7: 28,757,283 (GRCm38)	S151R	possibly damaging	Het
Cep128	T	A	12: 91,230,829 (GRCm38)	H406L	probably benign	Het
Cep135	A	G	5: 76,597,428 (GRCm38)	D229G	probably benign	Het
Cpvl	T	A	6: 53,954,611 (GRCm38)	D103V	probably benign	Het
Disp3	G	A	4: 148,258,753 (GRCm38)	A567V	probably damaging	Het
Dnah5	T	C	15: 28,343,591 (GRCm38)	I2379T	probably damaging	Het
Dnah6	T	C	6: 73,095,044 (GRCm38)	Y2433C	probably damaging	Het
Dock3	A	G	9: 107,108,421 (GRCm38)	I85T	probably benign	Het
Dock9	A	C	14: 121,591,830 (GRCm38)	S1380A	probably benign	Het
Erbin	T	C	13: 103,886,203 (GRCm38)	T43A	probably benign	Het
Fastkd3	T	C	13: 68,585,241 (GRCm38)	V502A	possibly damaging	Het
Fn1	T	C	1: 71,651,625 (GRCm38)	H59R	probably damaging	Het
Fsd2	A	G	7: 81,559,659 (GRCm38)	V145A	possibly damaging	Het
Fzr1	A	G	10: 81,370,319 (GRCm38)	V178A	probably damaging	Het
Gnpnat1	T	C	14: 45,380,998 (GRCm38)	R116G	probably damaging	Het
Grm7	T	A	6: 110,914,511 (GRCm38)	V235E	probably damaging	Het
Hdac4	A	C	1: 91,934,645 (GRCm38)	N1002K	probably damaging	Het
Hey1	C	T	3: 8,664,897 (GRCm38)	A167T	probably benign	Het
Hrnr	A	G	3: 93,332,604 (GRCm38)	N3383S	unknown	Het
Ints2	A	T	11: 86,217,800 (GRCm38)	V907D	probably benign	Het
Ispd	T	A	12: 36,521,996 (GRCm38)	L301Q	probably damaging	Het
Jchain	T	A	5: 88,521,467 (GRCm38)	Q109L	probably damaging	Het
Klhdc7a	A	T	4: 139,966,024 (GRCm38)	Y537*	probably null	Het
Klra1	C	T	6: 130,377,779 (GRCm38)	S92N	probably benign	Het
Krt31	C	T	11: 100,049,580 (GRCm38)	G150S	probably benign	Het
Lrrc71	G	A	3: 87,742,643 (GRCm38)	T326M	probably benign	Het
Lrrn4	T	C	2: 132,870,443 (GRCm38)	T487A	probably benign	Het
Map4k5	T	G	12: 69,842,912 (GRCm38)	R198S	probably damaging	Het
Men1	G	A	19: 6,338,837 (GRCm38)	C354Y	probably damaging	Het
Ms4a18	A	T	19: 11,013,655 (GRCm38)	V25E	probably damaging	Het
Mutyh	T	A	4: 116,819,368 (GRCm38)	S512R	possibly damaging	Het
Myh10	G	T	11: 68,814,496 (GRCm38)	A1947S	possibly damaging	Het
Nfasc	T	C	1: 132,610,886 (GRCm38)	D427G	probably damaging	Het
Nlrp9c	A	G	7: 26,378,056 (GRCm38)	M767T	probably benign	Het
Nrbp1	T	C	5: 31,245,391 (GRCm38)	L185P	probably damaging	Het
Pcdh9	G	A	14: 93,888,305 (GRCm38)	P143L	probably damaging	Het
Pcsk6	A	T	7: 65,927,287 (GRCm38)	M158L	possibly damaging	Het
Pkd1	G	T	17: 24,576,592 (GRCm38)		probably null	Het
Plk4	A	T	3: 40,805,817 (GRCm38)	S383C	possibly damaging	Het
Plxna2	T	C	1: 194,643,989 (GRCm38)	L77P	probably damaging	Het
Pnpla6	A	T	8: 3,542,370 (GRCm38)	T1209S	probably benign	Het
Prdm2	A	G	4: 143,132,509 (GRCm38)	S1404P	possibly damaging	Het
Preb	T	C	5: 30,958,813 (GRCm38)	D150G	probably damaging	Het
Prrt2	A	G	7: 127,018,730 (GRCm38)	V59A	probably benign	Het
Prss40	T	C	1: 34,558,014 (GRCm38)	N151S	possibly damaging	Het
Ptprt	G	T	2: 161,558,898 (GRCm38)	A1053D	probably damaging	Het
Ptprt	A	G	2: 161,766,321 (GRCm38)	V685A	possibly damaging	Het
Rfx4	C	T	10: 84,896,088 (GRCm38)	S549F	possibly damaging	Het
Rnaset2b	T	A	17: 6,996,477 (GRCm38)	V87E	probably benign	Het
Rnf213	G	A	11: 119,441,107 (GRCm38)	E2381K	probably damaging	Het
Sectm1a	A	T	11: 121,069,680 (GRCm38)	I103N	probably damaging	Het
Selp	T	A	1: 164,142,758 (GRCm38)	L597Q	probably damaging	Het
Sema6a	T	C	18: 47,300,142 (GRCm38)	D74G	probably damaging	Het
Serpinb9b	T	C	13: 33,029,559 (GRCm38)	V33A	probably benign	Het
Setd1b	A	T	5: 123,147,706 (GRCm38)	T272S	unknown	Het
Sgf29	G	C	7: 126,649,477 (GRCm38)		probably null	Het
Slc4a10	C	A	2: 62,268,204 (GRCm38)	Q561K	probably damaging	Het
Slc5a7	A	G	17: 54,293,835 (GRCm38)	Y91H	probably damaging	Het
Styxl1	T	C	5: 135,757,122 (GRCm38)	Y23C	probably damaging	Het
Tbc1d24	A	G	17: 24,206,872 (GRCm38)	V490A	possibly damaging	Het
Tbpl2	A	T	2: 24,094,732 (GRCm38)	F133L	probably benign	Het
Tcrg-C3	C	A	13: 19,260,994 (GRCm38)	F37L	probably damaging	Het
Tnfrsf22	T	C	7: 143,638,389 (GRCm38)		probably benign	Het
Top2b	A	G	14: 16,398,916 (GRCm38)	E512G	probably damaging	Het
Ttc17	T	A	2: 94,364,345 (GRCm38)	H561L	probably benign	Het
Ttll4	G	T	1: 74,685,368 (GRCm38)	V566L	possibly damaging	Het
Ubqlnl	A	G	7: 104,148,485 (GRCm38)	Y602H	probably benign	Het
Vmn1r231	T	A	17: 20,889,950 (GRCm38)	E234D	probably damaging	Het
Wbp11	A	G	6: 136,820,585 (GRCm38)	S279P	probably damaging	Het
Wdr6	A	G	9: 108,576,534 (GRCm38)	L50P	probably damaging	Het
Zfp715	A	C	7: 43,298,649 (GRCm38)	I629S	possibly damaging	Het

Other mutations in Slc4a5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00235:Slc4a5	APN	6	83,285,899 (GRCm38)	missense	probably damaging	1.00
IGL00473:Slc4a5	APN	6	83,296,597 (GRCm38)	missense	probably damaging	1.00
IGL00861:Slc4a5	APN	6	83,299,471 (GRCm38)	missense	probably benign
IGL01025:Slc4a5	APN	6	83,262,533 (GRCm38)	missense	probably damaging	0.98
IGL01532:Slc4a5	APN	6	83,273,040 (GRCm38)	splice site	probably null
IGL01991:Slc4a5	APN	6	83,263,543 (GRCm38)	missense	possibly damaging	0.94
IGL02271:Slc4a5	APN	6	83,271,103 (GRCm38)	splice site	probably benign
IGL02565:Slc4a5	APN	6	83,299,505 (GRCm38)	missense	probably benign	0.00
IGL02669:Slc4a5	APN	6	83,263,543 (GRCm38)	missense	possibly damaging	0.79
IGL02994:Slc4a5	APN	6	83,272,124 (GRCm38)	missense	probably damaging	1.00
IGL03259:Slc4a5	APN	6	83,270,997 (GRCm38)	missense	probably damaging	1.00
IGL03264:Slc4a5	APN	6	83,261,525 (GRCm38)	missense	probably damaging	1.00
R0032:Slc4a5	UTSW	6	83,273,157 (GRCm38)	missense	probably damaging	1.00
R0091:Slc4a5	UTSW	6	83,277,555 (GRCm38)	missense	probably benign	0.00
R0281:Slc4a5	UTSW	6	83,267,567 (GRCm38)	splice site	probably benign
R0366:Slc4a5	UTSW	6	83,295,872 (GRCm38)	missense	probably benign	0.02
R0668:Slc4a5	UTSW	6	83,271,072 (GRCm38)	missense	probably damaging	1.00
R1222:Slc4a5	UTSW	6	83,280,132 (GRCm38)	missense	probably damaging	1.00
R1550:Slc4a5	UTSW	6	83,271,057 (GRCm38)	missense	probably damaging	1.00
R1585:Slc4a5	UTSW	6	83,265,687 (GRCm38)	missense	probably damaging	1.00
R1731:Slc4a5	UTSW	6	83,296,635 (GRCm38)	missense	probably damaging	1.00
R2103:Slc4a5	UTSW	6	83,297,378 (GRCm38)	missense	probably benign	0.00
R2103:Slc4a5	UTSW	6	83,224,681 (GRCm38)	missense	probably benign	0.00
R2104:Slc4a5	UTSW	6	83,297,378 (GRCm38)	missense	probably benign	0.00
R2176:Slc4a5	UTSW	6	83,262,560 (GRCm38)	missense	probably damaging	0.98
R2920:Slc4a5	UTSW	6	83,264,387 (GRCm38)	missense	probably damaging	1.00
R2964:Slc4a5	UTSW	6	83,296,669 (GRCm38)	missense	probably damaging	1.00
R2965:Slc4a5	UTSW	6	83,296,669 (GRCm38)	missense	probably damaging	1.00
R2966:Slc4a5	UTSW	6	83,296,669 (GRCm38)	missense	probably damaging	1.00
R3755:Slc4a5	UTSW	6	83,288,303 (GRCm38)	missense	probably benign	0.26
R3756:Slc4a5	UTSW	6	83,288,303 (GRCm38)	missense	probably benign	0.26
R4293:Slc4a5	UTSW	6	83,260,529 (GRCm38)	missense	probably damaging	1.00
R4789:Slc4a5	UTSW	6	83,270,969 (GRCm38)	missense	probably benign	0.05
R4823:Slc4a5	UTSW	6	83,272,133 (GRCm38)	missense	probably damaging	1.00
R4854:Slc4a5	UTSW	6	83,271,017 (GRCm38)	missense	probably benign	0.00
R5461:Slc4a5	UTSW	6	83,285,854 (GRCm38)	missense	probably benign	0.29
R5707:Slc4a5	UTSW	6	83,261,415 (GRCm38)	missense	probably benign	0.11
R5747:Slc4a5	UTSW	6	83,271,029 (GRCm38)	missense	probably damaging	1.00
R5978:Slc4a5	UTSW	6	83,277,536 (GRCm38)	missense	probably benign	0.01
R6126:Slc4a5	UTSW	6	83,226,265 (GRCm38)	missense	probably benign	0.05
R6330:Slc4a5	UTSW	6	83,226,374 (GRCm38)	missense	probably benign
R6564:Slc4a5	UTSW	6	83,280,060 (GRCm38)	missense	possibly damaging	0.71
R6786:Slc4a5	UTSW	6	83,296,747 (GRCm38)	critical splice donor site	probably null
R7443:Slc4a5	UTSW	6	83,264,315 (GRCm38)	missense	probably benign	0.45
R7672:Slc4a5	UTSW	6	83,260,535 (GRCm38)	missense	probably damaging	1.00
R7690:Slc4a5	UTSW	6	83,285,872 (GRCm38)	missense	probably damaging	1.00
R7837:Slc4a5	UTSW	6	83,261,557 (GRCm38)	missense	probably benign	0.01
R8169:Slc4a5	UTSW	6	83,303,391 (GRCm38)	missense	probably benign	0.12
R8288:Slc4a5	UTSW	6	83,226,255 (GRCm38)	missense	probably benign	0.01
R8397:Slc4a5	UTSW	6	83,289,326 (GRCm38)	critical splice donor site	probably null
R8849:Slc4a5	UTSW	6	83,273,198 (GRCm38)	missense	probably damaging	1.00
R9033:Slc4a5	UTSW	6	83,260,475 (GRCm38)	nonsense	probably null
R9133:Slc4a5	UTSW	6	83,226,235 (GRCm38)	missense	possibly damaging	0.85
R9201:Slc4a5	UTSW	6	83,285,830 (GRCm38)	missense	probably benign	0.02
R9269:Slc4a5	UTSW	6	83,289,241 (GRCm38)	missense	possibly damaging	0.88
R9603:Slc4a5	UTSW	6	83,240,732 (GRCm38)	missense	probably benign	0.34
R9781:Slc4a5	UTSW	6	83,262,484 (GRCm38)	missense	probably benign	0.00
Z1177:Slc4a5	UTSW	6	83,280,033 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGACTACATGGAGTTCCGC -3'
(R):5'- GTCTGGGCCACACAGACAAATC -3'

Sequencing Primer
(F):5'- GACTACATGGAGTTCCGCCTCTG -3'
(R):5'- CATTTGCTCCCTTGGAACAGTGAG -3'

Posted On

2014-08-25