Mutagenetix > Incidental Mutation

Incidental Mutation 'R4823:Slc4a5'

371287

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

042439-MU

Accession Numbers

Essential gene?

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

Stock #

R4823 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

83196810-83281927 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 83249115 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 573 (T573I)

Ref Sequence

ENSEMBL: ENSMUSP00000109533 (fasta)

Gene Model

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

AlphaFold

E9Q3M5

Predicted Effect

probably damaging
Transcript: ENSMUST00000039212
AA Change: T458I

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000041007
Gene: ENSMUSG00000068323
AA Change: T458I

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: T458I

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000109532
Gene: ENSMUSG00000068323
AA Change: T458I

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: T573I

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

SMART Domains

Protein: ENSMUSP00000109533
Gene: ENSMUSG00000068323
AA Change: T573I

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.1%

Validation Efficiency

98% (96/98)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	G	A	5: 88,120,457 (GRCm39)	D405N	probably benign	Het
4921517D22Rik	T	G	13: 59,838,718 (GRCm39)	E38A	probably damaging	Het
4930433I11Rik	A	T	7: 40,642,786 (GRCm39)	I152F	probably benign	Het
Aass	A	T	6: 23,107,690 (GRCm39)	D364E	probably benign	Het
Adamts2	A	G	11: 50,628,014 (GRCm39)	D238G	probably benign	Het
Albfm1	T	A	5: 90,714,362 (GRCm39)	L124H	probably benign	Het
Aoc1l1	A	G	6: 48,952,195 (GRCm39)	D40G	probably damaging	Het
Aplf	G	A	6: 87,623,237 (GRCm39)	L302F	probably damaging	Het
Apol7b	G	T	15: 77,311,982 (GRCm39)		probably benign	Het
Arhgef12	A	G	9: 42,931,992 (GRCm39)	V165A	probably benign	Het
Ascc3	T	C	10: 50,589,329 (GRCm39)	S1017P	probably damaging	Het
B230104I21Rik	T	A	4: 154,434,204 (GRCm39)		probably benign	Het
Bfsp2	C	A	9: 103,357,082 (GRCm39)	C115F	probably damaging	Het
Bhmt2	A	T	13: 93,799,798 (GRCm39)	W213R	probably benign	Het
Capn5	A	T	7: 97,775,648 (GRCm39)	V431E	probably damaging	Het
Ccdc88c	A	G	12: 100,896,802 (GRCm39)	Y1390H	probably damaging	Het
Ccr3	A	G	9: 123,828,718 (GRCm39)	T18A	probably damaging	Het
Cdh5	T	C	8: 104,869,301 (GRCm39)	S676P	probably benign	Het
Ceacam5	A	G	7: 17,491,669 (GRCm39)	T680A	possibly damaging	Het
Cebpd	G	A	16: 15,705,978 (GRCm39)	G264S	probably benign	Het
Cfd	T	C	10: 79,726,782 (GRCm39)	V8A	probably benign	Het
Cops9	C	T	1: 92,569,588 (GRCm39)		probably benign	Het
Cpne6	T	C	14: 55,754,467 (GRCm39)	Y533H	probably damaging	Het
Cyp2c67	T	A	19: 39,604,168 (GRCm39)	H396L	probably benign	Het
Cyp2j9	G	A	4: 96,456,972 (GRCm39)	P500S	possibly damaging	Het
Cyp4a12a	A	T	4: 115,184,610 (GRCm39)		probably null	Het
Dbt	G	A	3: 116,317,036 (GRCm39)	D71N	probably damaging	Het
Ddx41	G	T	13: 55,679,868 (GRCm39)	Q440K	probably benign	Het
Elovl4	A	G	9: 83,662,738 (GRCm39)	F174S	probably damaging	Het
Emcn	C	G	3: 137,129,187 (GRCm39)	P193R	probably damaging	Het
Etnk1	T	C	6: 143,113,364 (GRCm39)		probably null	Het
Fads3	A	C	19: 10,019,252 (GRCm39)	S53R	probably damaging	Het
Fam193a	A	G	5: 34,616,372 (GRCm39)	E849G	probably damaging	Het
Fat3	A	G	9: 15,907,803 (GRCm39)	V2733A	probably benign	Het
Frem3	T	A	8: 81,340,587 (GRCm39)	M960K	probably benign	Het
Frmd6	A	T	12: 70,919,349 (GRCm39)	I62L	probably benign	Het
Glmp	T	C	3: 88,232,530 (GRCm39)		probably benign	Het
Gm17421	T	C	12: 113,333,161 (GRCm39)		noncoding transcript	Het
Gm27013	T	A	6: 130,499,186 (GRCm39)		noncoding transcript	Het
Gtf2ird1	A	G	5: 134,424,576 (GRCm39)	V390A	probably damaging	Het
Hps3	A	G	3: 20,066,890 (GRCm39)	Y559H	probably benign	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Itpr3	A	G	17: 27,304,121 (GRCm39)	D114G	probably benign	Het
Jmjd4	G	A	11: 59,346,406 (GRCm39)	A408T	probably benign	Het
Kcnh4	G	T	11: 100,646,000 (GRCm39)	A316D	probably damaging	Het
Klrg1	T	A	6: 122,250,492 (GRCm39)		probably null	Het
Lancl2	T	A	6: 57,709,262 (GRCm39)	Y355N	probably damaging	Het
Ltb	T	C	17: 35,414,206 (GRCm39)	S115P	probably benign	Het
Mccc2	T	G	13: 100,136,762 (GRCm39)	R64S	probably benign	Het
Mgam2-ps	T	A	6: 40,809,596 (GRCm39)		noncoding transcript	Het
Mrrf	T	G	2: 36,038,042 (GRCm39)	N104K	possibly damaging	Het
Nipa1	C	A	7: 55,629,436 (GRCm39)	V226L	possibly damaging	Het
Numa1	T	A	7: 101,645,244 (GRCm39)	L290Q	probably damaging	Het
Ofcc1	T	A	13: 40,433,949 (GRCm39)	H52L	probably damaging	Het
Ogfod3	G	A	11: 121,086,027 (GRCm39)	A189V	probably benign	Het
Or14c39	T	A	7: 86,343,796 (GRCm39)	I44N	probably damaging	Het
Or5b21	A	T	19: 12,839,180 (GRCm39)	I14F	probably benign	Het
Or5d46	A	G	2: 88,170,179 (GRCm39)	D90G	probably damaging	Het
Or9i1b	G	A	19: 13,897,022 (GRCm39)	V213I	probably benign	Het
P2ry12	G	A	3: 59,125,318 (GRCm39)	S119L	probably benign	Het
Pde7b	T	A	10: 20,314,531 (GRCm39)	N192Y	probably damaging	Het
Pfkl	T	C	10: 77,833,428 (GRCm39)	N258S	probably damaging	Het
Phykpl	G	A	11: 51,477,420 (GRCm39)	A71T	probably damaging	Het
Ppp1r16a	T	C	15: 76,577,393 (GRCm39)		probably benign	Het
Pramel15	T	C	4: 144,099,781 (GRCm39)	N328S	possibly damaging	Het
Pramel32	T	C	4: 88,547,452 (GRCm39)	K160R	probably damaging	Het
Prune2	C	T	19: 17,097,868 (GRCm39)	T1124M	probably damaging	Het
Rapgef6	A	G	11: 54,585,326 (GRCm39)	I1570V	probably benign	Het
Rbm34	T	C	8: 127,697,655 (GRCm39)	S19G	probably benign	Het
Rnf10	T	C	5: 115,393,501 (GRCm39)		probably null	Het
Rnf34	A	G	5: 122,988,365 (GRCm39)		probably null	Het
Setd4	A	G	16: 93,386,838 (GRCm39)	S287P	probably benign	Het
Shc3	C	T	13: 51,605,606 (GRCm39)	V225I	probably benign	Het
Sipa1l3	C	T	7: 29,070,427 (GRCm39)	V1030I	probably damaging	Het
Siva1	G	T	12: 112,611,498 (GRCm39)	R33L	probably damaging	Het
Sorcs1	C	T	19: 50,666,578 (GRCm39)	R110Q	possibly damaging	Het
Sorcs1	T	C	19: 50,218,740 (GRCm39)	I581V	possibly damaging	Het
Sorl1	T	C	9: 41,903,617 (GRCm39)	D1545G	probably damaging	Het
Tas2r124	T	G	6: 132,732,509 (GRCm39)	S273A	probably damaging	Het
Tcf15	T	C	2: 151,985,813 (GRCm39)	F90L	probably damaging	Het
Trim59	G	A	3: 68,944,453 (GRCm39)	R296C	probably benign	Het
Tulp1	A	T	17: 28,572,546 (GRCm39)	D229E	probably benign	Het
Ush1c	T	A	7: 45,845,157 (GRCm39)	N886I	probably benign	Het
Usp9y	A	T	Y: 1,444,559 (GRCm39)	S127T	probably damaging	Het
Vmn1r19	T	A	6: 57,382,219 (GRCm39)	Y257*	probably null	Het
Vmn2r109	A	T	17: 20,774,153 (GRCm39)	Y401N	probably damaging	Het
Vmn2r69	A	C	7: 85,060,508 (GRCm39)	S359A	probably benign	Het
Zfp37	A	T	4: 62,109,740 (GRCm39)	N479K	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- CCTCACATATAGACGCCATGT -3'
(R):5'- CACAGTTCACCATGCCTGTG -3'

Sequencing Primer
(F):5'- GACGCCATGTCCTAATAAGCTTC -3'
(R):5'- TTCACCATGCCTGTGGGGTC -3'

Posted On

2016-03-01