Mutagenetix > Incidental Mutation

Incidental Mutation 'R8169:Slc4a5'

633954

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

067595-MU

Accession Numbers

Essential gene?

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

Stock #

R8169 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

83196810-83281927 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 83280373 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1007 (V1007A)

Ref Sequence

ENSEMBL: ENSMUSP00000109532 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005810] [ENSMUST00000039212] [ENSMUST00000113899] [ENSMUST00000113900] [ENSMUST00000203847]

AlphaFold

E9Q3M5

Predicted Effect

probably benign
Transcript: ENSMUST00000005810

SMART Domains

Protein: ENSMUSP00000005810
Gene: ENSMUSG00000005667

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:THF_DHG_CYH	39	155	8.1e-45	PFAM
Pfam:THF_DHG_CYH_C	158	332	7.7e-65	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000039212

SMART Domains

Protein: ENSMUSP00000041007
Gene: ENSMUSG00000068323

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
AA Change: V1007A

PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000109532
Gene: ENSMUSG00000068323
AA Change: V1007A

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

SMART Domains

Protein: ENSMUSP00000109533
Gene: ENSMUSG00000068323

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

probably benign
Transcript: ENSMUST00000203847

SMART Domains

Protein: ENSMUSP00000145266
Gene: ENSMUSG00000005667

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:THF_DHG_CYH	39	108	2e-13	PFAM

Meta Mutation Damage Score

0.0698

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (80/81)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110082I17Rik	C	A	5: 139,349,812 (GRCm39)	G79V	probably damaging	Het
4930562C15Rik	T	A	16: 4,684,082 (GRCm39)	Y226N	probably benign	Het
Arhgap45	G	A	10: 79,863,706 (GRCm39)	A819T	probably damaging	Het
Bach1	G	A	16: 87,519,390 (GRCm39)	C560Y	possibly damaging	Het
Capn13	T	A	17: 73,633,467 (GRCm39)		probably null	Het
Casq2	G	T	3: 102,017,628 (GRCm39)	A103S	possibly damaging	Het
Cfap100	A	G	6: 90,394,656 (GRCm39)	F57S		Het
Clca3a2	A	T	3: 144,783,653 (GRCm39)	L654Q	probably damaging	Het
Cntnap5c	T	A	17: 58,411,765 (GRCm39)		probably null	Het
Cplane2	A	G	4: 140,945,530 (GRCm39)	H127R	probably damaging	Het
Crtc2	G	C	3: 90,170,883 (GRCm39)	G652A	probably damaging	Het
Csnk1g2	A	G	10: 80,475,636 (GRCm39)	D401G	probably damaging	Het
Dars1	T	C	1: 128,304,002 (GRCm39)	N242D	probably null	Het
Dnah10	T	C	5: 124,877,946 (GRCm39)	L2677P	probably damaging	Het
Dnal1	G	A	12: 84,171,330 (GRCm39)	A3T	probably benign	Het
Dpep2	C	T	8: 106,722,849 (GRCm39)	V60I		Het
Eeig1	T	C	2: 32,453,760 (GRCm39)	I203T	probably benign	Het
Ehmt2	T	A	17: 35,122,339 (GRCm39)	I302N	probably benign	Het
Eif3a	C	T	19: 60,750,628 (GRCm39)	R1309Q	unknown	Het
Eno4	T	A	19: 58,935,084 (GRCm39)	Y100N	probably benign	Het
Ephx2	A	T	14: 66,349,602 (GRCm39)		probably null	Het
Fbxw14	A	T	9: 109,106,284 (GRCm39)	I251K	probably benign	Het
Fcgbp	T	C	7: 27,784,919 (GRCm39)		probably null	Het
Foxm1	A	C	6: 128,348,671 (GRCm39)		probably null	Het
Fscn3	T	A	6: 28,430,328 (GRCm39)	I166N	possibly damaging	Het
Gdpd4	G	T	7: 97,621,335 (GRCm39)	V193L	probably benign	Het
Gnpat	T	G	8: 125,606,869 (GRCm39)	C352G	probably benign	Het
H2-Q7	T	A	17: 35,658,910 (GRCm39)	Y120*	probably null	Het
Klri1	G	A	6: 129,694,070 (GRCm39)	R6C	probably benign	Het
Kmo	T	C	1: 175,476,729 (GRCm39)	V154A	probably benign	Het
Kmt2c	A	G	5: 25,559,685 (GRCm39)	L1031P	probably damaging	Het
Lrrc14b	T	G	13: 74,511,286 (GRCm39)	T265P	possibly damaging	Het
Lrrc2	C	T	9: 110,809,954 (GRCm39)	T330I	probably benign	Het
Lyn	T	A	4: 3,783,050 (GRCm39)	S428T	probably damaging	Het
Lypd10	T	A	7: 24,412,000 (GRCm39)	M60K	probably benign	Het
Mfsd8	T	A	3: 40,791,550 (GRCm39)	M59L	probably benign	Het
Mok	T	A	12: 110,774,799 (GRCm39)	Q341L	probably benign	Het
Muc21	T	C	17: 35,932,072 (GRCm39)	T705A	unknown	Het
Myh3	C	A	11: 66,979,856 (GRCm39)	N598K	probably benign	Het
Nbeal1	G	C	1: 60,276,310 (GRCm39)	V684L	probably benign	Het
Nlrp4e	A	G	7: 23,019,931 (GRCm39)	I139M	probably benign	Het
Or11g25	T	C	14: 50,723,692 (GRCm39)	V259A	probably benign	Het
Or3a10	T	A	11: 73,935,707 (GRCm39)	Q131L	possibly damaging	Het
Or4b13	G	A	2: 90,082,442 (GRCm39)	R297*	probably null	Het
Or51g2	A	G	7: 102,622,545 (GRCm39)	L218P	probably damaging	Het
Or52n2b	A	T	7: 104,565,619 (GRCm39)	Y295N	possibly damaging	Het
Osbpl7	G	A	11: 96,945,676 (GRCm39)	S312N	probably damaging	Het
Paxip1	A	G	5: 27,977,093 (GRCm39)	L323P	unknown	Het
Pcdh18	T	A	3: 49,699,684 (GRCm39)	H926L	probably damaging	Het
Pcm1	T	G	8: 41,763,153 (GRCm39)	S1460R	possibly damaging	Het
Pdha2	A	G	3: 140,917,155 (GRCm39)	S118P	possibly damaging	Het
Pdss1	A	T	2: 22,791,824 (GRCm39)	Y86F	probably benign	Het
Ppargc1a	A	T	5: 51,631,026 (GRCm39)	D534E	probably benign	Het
Prune2	A	G	19: 17,102,455 (GRCm39)	K2538R	probably benign	Het
Ptprq	A	T	10: 107,418,351 (GRCm39)	I1675N	probably damaging	Het
Rgma	C	T	7: 73,025,630 (GRCm39)	P3L	probably benign	Het
Ros1	A	G	10: 51,940,768 (GRCm39)		probably null	Het
Sema4g	C	T	19: 44,987,410 (GRCm39)	R519W	probably damaging	Het
Serpinc1	T	A	1: 160,820,971 (GRCm39)	F139L	probably damaging	Het
Slc22a29	A	G	19: 8,184,696 (GRCm39)	I198T	probably damaging	Het
Sptbn1	T	C	11: 30,147,783 (GRCm39)	Y17C	possibly damaging	Het
Tex261	C	A	6: 83,751,999 (GRCm39)		probably null	Het
Timmdc1	T	A	16: 38,331,148 (GRCm39)	T128S	probably benign	Het
Tmem120b	C	A	5: 123,237,999 (GRCm39)	Y96*	probably null	Het
Tmem196	T	A	12: 119,982,311 (GRCm39)	F182I	possibly damaging	Het
Tnxb	G	A	17: 34,918,181 (GRCm39)	V2365M	possibly damaging	Het
Tph1	T	C	7: 46,303,233 (GRCm39)		silent	Het
Trmt9b	A	T	8: 36,978,857 (GRCm39)	K153N	probably damaging	Het
Trpc1	G	A	9: 95,592,323 (GRCm39)	Q551*	probably null	Het
Tubgcp3	T	C	8: 12,666,099 (GRCm39)	N828D	probably benign	Het
Unc13a	C	A	8: 72,108,933 (GRCm39)	G478W	probably damaging	Het
Usp15	T	A	10: 122,961,798 (GRCm39)	T627S		Het
Vmn1r115	A	T	7: 20,578,144 (GRCm39)	I256N	probably damaging	Het
Vmn2r6	T	A	3: 64,447,310 (GRCm39)	K585N	probably benign	Het
Vsir	G	T	10: 60,194,047 (GRCm39)		probably null	Het
Xirp2	A	G	2: 67,343,543 (GRCm39)	D1928G	probably benign	Het
Xylt1	A	G	7: 117,249,846 (GRCm39)	Y672C	probably damaging	Het
Yrdc	A	G	4: 124,744,880 (GRCm39)	S105G	probably benign	Het
Zfc3h1	T	A	10: 115,254,616 (GRCm39)	N1403K	probably damaging	Het
Zfp160	A	T	17: 21,247,298 (GRCm39)	H616L	probably damaging	Het
Zfp637	T	A	6: 117,822,252 (GRCm39)	F127I	probably damaging	Het
Zfp69	G	T	4: 120,787,731 (GRCm39)	A528D	probably damaging	Het
Zpr1	T	A	9: 46,189,645 (GRCm39)	L342Q	possibly 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
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
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
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

Predicted Primers

PCR Primer
(F):5'- GGAGTTTATCCCTAGGACGGAG -3'
(R):5'- AGGTGTAAGGCTTGACACCC -3'

Sequencing Primer
(F):5'- GGGTTTCACTTATGTAGCCCAGAC -3'
(R):5'- GTAAGGCTTGACACCCTCTAGATG -3'

Posted On

2020-07-13