Mutagenetix > Incidental Mutation

Incidental Mutation 'R6088:Slc4a4'

486087

Institutional Source

Beutler Lab

Gene Symbol

Slc4a4

Ensembl Gene

ENSMUSG00000060961

Gene Name

solute carrier family 4 (anion exchanger), member 4

Synonyms

NBC, NBC1

MMRRC Submission

044245-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6088 (G1)

Quality Score

170.009

Status

Validated

Chromosome

Chromosomal Location

89034345-89387512 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 89345563 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 741 (V741E)

Ref Sequence

ENSEMBL: ENSMUSP00000121744 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000113218] [ENSMUST00000130041] [ENSMUST00000148750] [ENSMUST00000156238]

AlphaFold

O88343

Predicted Effect

probably benign
Transcript: ENSMUST00000113218
AA Change: V732E

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

SMART Domains

Protein: ENSMUSP00000108844
Gene: ENSMUSG00000060961
AA Change: V732E

Domain	Start	End	E-Value	Type
low complexity region	40	59	N/A	INTRINSIC
low complexity region	76	87	N/A	INTRINSIC
Pfam:Band_3_cyto	137	379	1.1e-100	PFAM
low complexity region	408	423	N/A	INTRINSIC
Pfam:HCO3_cotransp	426	947	3e-246	PFAM
transmembrane domain	953	975	N/A	INTRINSIC
low complexity region	999	1015	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000130041
AA Change: V697E

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000118413
Gene: ENSMUSG00000060961
AA Change: V697E

Domain	Start	End	E-Value	Type
Pfam:Band_3_cyto	93	344	1.5e-101	PFAM
low complexity region	373	388	N/A	INTRINSIC
Pfam:HCO3_cotransp	391	912	2.7e-246	PFAM
transmembrane domain	918	940	N/A	INTRINSIC
low complexity region	964	980	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000148750
AA Change: V741E

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

SMART Domains

Protein: ENSMUSP00000119325
Gene: ENSMUSG00000060961
AA Change: V741E

Domain	Start	End	E-Value	Type
low complexity region	40	59	N/A	INTRINSIC
low complexity region	76	87	N/A	INTRINSIC
Pfam:Band_3_cyto	137	388	3.7e-101	PFAM
low complexity region	417	432	N/A	INTRINSIC
Pfam:HCO3_cotransp	435	956	7.3e-246	PFAM
transmembrane domain	962	984	N/A	INTRINSIC
low complexity region	1008	1024	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000156238
AA Change: V741E

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

SMART Domains

Protein: ENSMUSP00000121744
Gene: ENSMUSG00000060961
AA Change: V741E

Domain	Start	End	E-Value	Type
low complexity region	40	59	N/A	INTRINSIC
low complexity region	76	87	N/A	INTRINSIC
Pfam:Band_3_cyto	137	388	4.6e-101	PFAM
low complexity region	417	432	N/A	INTRINSIC
Pfam:HCO3_cotransp	436	956	4.1e-231	PFAM
transmembrane domain	962	984	N/A	INTRINSIC
low complexity region	1008	1024	N/A	INTRINSIC

Meta Mutation Damage Score

0.2104

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.7%
20x: 92.9%

Validation Efficiency

98% (59/60)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a sodium bicarbonate cotransporter (NBC) involved in the regulation of bicarbonate secretion and absorption and intracellular pH. Mutations in this gene are associated with proximal renal tubular acidosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit smaller birth size, growth retardation, postnatal lethality, bowel obstructions, altered blood chemistry, acidosis, spleen defects and defects in ion homeostasis. Heterozygotes have decreased levels of circulating bicarbonate. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts19	G	T	18: 59,035,174 (GRCm39)	V360F	probably damaging	Het
Ankrd17	C	T	5: 90,401,547 (GRCm39)	E1605K	possibly damaging	Het
Arid4a	A	G	12: 71,069,010 (GRCm39)	D54G	probably damaging	Het
Baz2a	TCTCCTC	TCTC	10: 127,950,511 (GRCm39)		probably benign	Het
Bltp3a	G	A	17: 28,103,579 (GRCm39)		probably null	Het
Card6	A	T	15: 5,134,501 (GRCm39)	V234E	possibly damaging	Het
Cd1d1	G	T	3: 86,906,009 (GRCm39)	Q89K	probably benign	Het
Ciita	G	A	16: 10,329,795 (GRCm39)	R693K	probably damaging	Het
Cox7a2l	G	T	17: 83,811,401 (GRCm39)	L77I	probably benign	Het
Crybg2	A	T	4: 133,803,101 (GRCm39)		probably null	Het
Cts8	T	C	13: 61,401,780 (GRCm39)	N39S	probably benign	Het
Def8	G	T	8: 124,186,787 (GRCm39)	E456*	probably null	Het
Dld	A	G	12: 31,390,988 (GRCm39)	F153L	probably benign	Het
Elf1	C	T	14: 79,804,701 (GRCm39)	T122I	probably benign	Het
Emilin2	T	C	17: 71,562,119 (GRCm39)	N961S	probably benign	Het
Esp24	A	G	17: 39,350,901 (GRCm39)	I34V	probably benign	Het
Fam184b	C	A	5: 45,741,354 (GRCm39)	K292N	probably damaging	Het
Gabrg3	T	A	7: 56,634,826 (GRCm39)	N119I	probably damaging	Het
Gucy1b1	T	C	3: 81,942,187 (GRCm39)	H524R	probably damaging	Het
Kcp	A	T	6: 29,502,631 (GRCm39)	S205T	probably benign	Het
Klb	C	T	5: 65,506,356 (GRCm39)	T201M	probably benign	Het
Lamp3	A	T	16: 19,492,148 (GRCm39)	F365L	probably damaging	Het
Mad1l1	T	A	5: 140,179,718 (GRCm39)	H390L	probably benign	Het
Mlxipl	T	C	5: 135,162,884 (GRCm39)	Y711H	possibly damaging	Het
Myo5b	T	A	18: 74,853,969 (GRCm39)	L1196Q	possibly damaging	Het
Ndufb8	A	G	19: 44,543,464 (GRCm39)	S70P	probably benign	Het
Neb	T	C	2: 52,099,354 (GRCm39)	D4832G	probably damaging	Het
Niban2	T	C	2: 32,813,135 (GRCm39)	V540A	probably damaging	Het
Nr5a1	T	C	2: 38,592,007 (GRCm39)	D322G	probably benign	Het
Or1e1d-ps1	A	T	11: 73,819,649 (GRCm39)	T273S	probably benign	Het
Or5ak20	T	A	2: 85,183,698 (GRCm39)	S191C	probably damaging	Het
Oscar	G	A	7: 3,614,311 (GRCm39)	P143S	probably benign	Het
Oxa1l	T	A	14: 54,605,151 (GRCm39)		probably null	Het
Pafah2	A	G	4: 134,140,692 (GRCm39)	I221V	probably benign	Het
Pibf1	T	A	14: 99,416,794 (GRCm39)	F456I	probably benign	Het
Pla2g4d	C	T	2: 120,100,487 (GRCm39)	G615D	probably damaging	Het
Plekhg2	C	T	7: 28,060,438 (GRCm39)	V964I	probably benign	Het
Ppip5k1	C	A	2: 121,167,944 (GRCm39)	V770L	probably benign	Het
Ppl	A	T	16: 4,922,852 (GRCm39)	L213Q	possibly damaging	Het
Ptprf	G	A	4: 118,067,952 (GRCm39)	T1785I	possibly damaging	Het
Pycr2	G	A	1: 180,733,801 (GRCm39)	G131E	probably damaging	Het
Rbpj	C	T	5: 53,808,710 (GRCm39)		probably null	Het
Rcc1	G	T	4: 132,060,153 (GRCm39)	D430E	probably benign	Het
Rhbdf1	A	G	11: 32,162,007 (GRCm39)	V525A	possibly damaging	Het
Samd7	G	A	3: 30,810,632 (GRCm39)	M216I	probably benign	Het
Ska3	A	T	14: 58,054,151 (GRCm39)	D266E	probably benign	Het
Slc1a7	G	A	4: 107,869,641 (GRCm39)	V569M	probably damaging	Het
Slc26a1	C	T	5: 108,821,872 (GRCm39)	E6K	possibly damaging	Het
St6galnac3	C	T	3: 152,912,352 (GRCm39)	G164S	probably damaging	Het
Tgs1	T	A	4: 3,595,383 (GRCm39)	N517K	probably benign	Het
Tns4	A	G	11: 98,964,546 (GRCm39)	S522P	probably damaging	Het
Trpm1	A	T	7: 63,917,724 (GRCm39)	M355L	probably damaging	Het
Trpm8	G	A	1: 88,234,400 (GRCm39)		probably benign	Het
V1ra8	T	C	6: 90,180,082 (GRCm39)	F95S	probably damaging	Het
Zfp521	A	C	18: 13,979,166 (GRCm39)	S416A	possibly damaging	Het
Zfp574	T	A	7: 24,779,764 (GRCm39)	V262E	probably benign	Het
Zfp740	T	A	15: 102,117,243 (GRCm39)	I77N	probably damaging	Het
Zscan18	A	T	7: 12,509,125 (GRCm39)		probably benign	Het

Other mutations in Slc4a4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00827:Slc4a4	APN	5	89,327,545 (GRCm39)	missense	probably benign	0.01
IGL00976:Slc4a4	APN	5	89,102,657 (GRCm39)	missense	probably damaging	1.00
IGL01074:Slc4a4	APN	5	89,327,633 (GRCm39)	missense	probably damaging	1.00
IGL01120:Slc4a4	APN	5	89,280,238 (GRCm39)	missense	probably damaging	1.00
IGL01284:Slc4a4	APN	5	89,277,532 (GRCm39)	missense	probably benign	0.22
IGL01375:Slc4a4	APN	5	89,327,593 (GRCm39)	missense	probably damaging	1.00
IGL01399:Slc4a4	APN	5	89,376,794 (GRCm39)	missense	probably damaging	1.00
IGL01487:Slc4a4	APN	5	89,376,715 (GRCm39)	missense	probably benign	0.19
IGL02501:Slc4a4	APN	5	89,277,508 (GRCm39)	missense	probably benign	0.13
IGL03104:Slc4a4	APN	5	89,297,231 (GRCm39)	missense	probably damaging	1.00
IGL03157:Slc4a4	APN	5	89,304,372 (GRCm39)	missense	probably damaging	0.99
IGL03205:Slc4a4	APN	5	89,297,189 (GRCm39)	missense	probably benign	0.00
IGL03356:Slc4a4	APN	5	89,270,342 (GRCm39)	missense	probably benign	0.00
IGL03372:Slc4a4	APN	5	89,304,285 (GRCm39)	missense	probably damaging	1.00
IGL03382:Slc4a4	APN	5	89,376,695 (GRCm39)	missense	probably damaging	1.00
camera	UTSW	5	89,280,366 (GRCm39)	missense	probably damaging	1.00
pixels	UTSW	5	89,270,262 (GRCm39)	missense	probably damaging	0.99
Shutter	UTSW	5	89,373,807 (GRCm39)	missense	probably damaging	1.00
Tetrapod	UTSW	5	89,376,831 (GRCm39)	missense	probably damaging	1.00
Therapod	UTSW	5	89,283,581 (GRCm39)	missense	probably damaging	1.00
tripod	UTSW	5	89,297,192 (GRCm39)	missense	possibly damaging	0.52
BB008:Slc4a4	UTSW	5	89,318,640 (GRCm39)	missense	probably benign	0.00
BB018:Slc4a4	UTSW	5	89,318,640 (GRCm39)	missense	probably benign	0.00
PIT4515001:Slc4a4	UTSW	5	89,281,112 (GRCm39)	missense	probably damaging	1.00
PIT4544001:Slc4a4	UTSW	5	89,186,402 (GRCm39)	missense	probably damaging	1.00
R0007:Slc4a4	UTSW	5	89,186,437 (GRCm39)	missense	probably damaging	1.00
R0052:Slc4a4	UTSW	5	89,304,195 (GRCm39)	missense	possibly damaging	0.71
R0052:Slc4a4	UTSW	5	89,304,195 (GRCm39)	missense	possibly damaging	0.71
R0054:Slc4a4	UTSW	5	89,304,195 (GRCm39)	missense	possibly damaging	0.71
R0055:Slc4a4	UTSW	5	89,304,195 (GRCm39)	missense	possibly damaging	0.71
R0230:Slc4a4	UTSW	5	89,304,195 (GRCm39)	missense	possibly damaging	0.71
R0234:Slc4a4	UTSW	5	89,304,195 (GRCm39)	missense	possibly damaging	0.71
R0234:Slc4a4	UTSW	5	89,304,195 (GRCm39)	missense	possibly damaging	0.71
R0632:Slc4a4	UTSW	5	89,277,500 (GRCm39)	missense	probably damaging	1.00
R1199:Slc4a4	UTSW	5	89,363,653 (GRCm39)	critical splice donor site	probably null
R1597:Slc4a4	UTSW	5	89,283,587 (GRCm39)	missense	probably benign	0.01
R1783:Slc4a4	UTSW	5	89,280,273 (GRCm39)	missense	probably damaging	1.00
R1813:Slc4a4	UTSW	5	89,194,167 (GRCm39)	missense	probably damaging	0.98
R1896:Slc4a4	UTSW	5	89,194,167 (GRCm39)	missense	probably damaging	0.98
R2000:Slc4a4	UTSW	5	89,176,206 (GRCm39)	missense	probably damaging	1.00
R2139:Slc4a4	UTSW	5	89,194,123 (GRCm39)	missense	probably damaging	1.00
R2163:Slc4a4	UTSW	5	89,362,435 (GRCm39)	missense	probably damaging	1.00
R2513:Slc4a4	UTSW	5	89,304,257 (GRCm39)	missense	probably benign	0.00
R2873:Slc4a4	UTSW	5	89,283,623 (GRCm39)	missense	probably damaging	1.00
R2995:Slc4a4	UTSW	5	89,082,673 (GRCm39)	missense	probably damaging	1.00
R3054:Slc4a4	UTSW	5	89,373,807 (GRCm39)	missense	probably damaging	1.00
R3055:Slc4a4	UTSW	5	89,373,807 (GRCm39)	missense	probably damaging	1.00
R3055:Slc4a4	UTSW	5	89,280,366 (GRCm39)	missense	probably damaging	1.00
R3056:Slc4a4	UTSW	5	89,373,807 (GRCm39)	missense	probably damaging	1.00
R3617:Slc4a4	UTSW	5	89,382,663 (GRCm39)	missense	probably benign	0.00
R3856:Slc4a4	UTSW	5	89,380,698 (GRCm39)	missense	probably benign	0.00
R3863:Slc4a4	UTSW	5	89,283,507 (GRCm39)	missense	possibly damaging	0.95
R3896:Slc4a4	UTSW	5	89,345,625 (GRCm39)	splice site	probably benign
R4007:Slc4a4	UTSW	5	89,362,452 (GRCm39)	missense	probably damaging	1.00
R4616:Slc4a4	UTSW	5	89,186,420 (GRCm39)	missense	probably damaging	1.00
R4740:Slc4a4	UTSW	5	89,373,753 (GRCm39)	missense	probably damaging	1.00
R5009:Slc4a4	UTSW	5	89,297,157 (GRCm39)	critical splice acceptor site	probably null
R5119:Slc4a4	UTSW	5	89,102,721 (GRCm39)	missense	probably null	0.97
R5228:Slc4a4	UTSW	5	89,304,384 (GRCm39)	missense	possibly damaging	0.50
R5394:Slc4a4	UTSW	5	89,345,623 (GRCm39)	critical splice donor site	probably null
R5396:Slc4a4	UTSW	5	89,194,076 (GRCm39)	missense	probably benign	0.00
R5662:Slc4a4	UTSW	5	89,176,103 (GRCm39)	missense	probably damaging	0.96
R5664:Slc4a4	UTSW	5	89,176,103 (GRCm39)	missense	probably damaging	0.96
R6021:Slc4a4	UTSW	5	89,188,261 (GRCm39)	intron	probably benign
R6337:Slc4a4	UTSW	5	89,194,231 (GRCm39)	missense	probably benign	0.21
R6416:Slc4a4	UTSW	5	89,327,588 (GRCm39)	missense	probably benign	0.26
R6452:Slc4a4	UTSW	5	89,376,839 (GRCm39)	missense	probably benign	0.05
R6524:Slc4a4	UTSW	5	89,380,623 (GRCm39)	missense	probably benign	0.01
R6566:Slc4a4	UTSW	5	89,297,192 (GRCm39)	missense	possibly damaging	0.52
R6727:Slc4a4	UTSW	5	89,318,624 (GRCm39)	missense	probably benign	0.00
R6844:Slc4a4	UTSW	5	89,376,831 (GRCm39)	missense	probably damaging	1.00
R6970:Slc4a4	UTSW	5	89,327,690 (GRCm39)	missense	probably damaging	0.98
R7021:Slc4a4	UTSW	5	89,188,205 (GRCm39)	splice site	probably null
R7180:Slc4a4	UTSW	5	89,194,095 (GRCm39)	missense	probably damaging	0.97
R7197:Slc4a4	UTSW	5	89,082,433 (GRCm39)	intron	probably benign
R7246:Slc4a4	UTSW	5	89,270,262 (GRCm39)	missense	probably damaging	0.99
R7309:Slc4a4	UTSW	5	89,318,610 (GRCm39)	missense	probably benign
R7412:Slc4a4	UTSW	5	89,362,506 (GRCm39)	splice site	probably null
R7492:Slc4a4	UTSW	5	89,277,509 (GRCm39)	missense	possibly damaging	0.92
R7561:Slc4a4	UTSW	5	89,347,556 (GRCm39)	missense	probably damaging	1.00
R7577:Slc4a4	UTSW	5	89,373,726 (GRCm39)	missense	probably damaging	0.97
R7609:Slc4a4	UTSW	5	89,283,545 (GRCm39)	missense	probably damaging	1.00
R7781:Slc4a4	UTSW	5	89,376,791 (GRCm39)	missense	possibly damaging	0.78
R7931:Slc4a4	UTSW	5	89,318,640 (GRCm39)	missense	probably benign	0.00
R7950:Slc4a4	UTSW	5	89,206,137 (GRCm39)	splice site	probably null
R8078:Slc4a4	UTSW	5	89,327,566 (GRCm39)	missense	probably benign	0.00
R8313:Slc4a4	UTSW	5	89,194,122 (GRCm39)	missense	possibly damaging	0.84
R8332:Slc4a4	UTSW	5	89,327,680 (GRCm39)	missense	probably benign	0.11
R8534:Slc4a4	UTSW	5	89,283,581 (GRCm39)	missense	probably damaging	1.00
R8735:Slc4a4	UTSW	5	89,280,301 (GRCm39)	missense	probably damaging	1.00
R8786:Slc4a4	UTSW	5	89,232,549 (GRCm39)	missense	probably benign	0.07
R8968:Slc4a4	UTSW	5	89,232,512 (GRCm39)	missense	probably benign
R9014:Slc4a4	UTSW	5	89,280,245 (GRCm39)	missense	probably damaging	1.00
R9031:Slc4a4	UTSW	5	89,205,568 (GRCm39)	intron	probably benign
R9195:Slc4a4	UTSW	5	89,281,055 (GRCm39)	missense	possibly damaging	0.82
R9236:Slc4a4	UTSW	5	89,194,158 (GRCm39)	nonsense	probably null
R9261:Slc4a4	UTSW	5	89,347,568 (GRCm39)	missense	probably damaging	1.00
R9325:Slc4a4	UTSW	5	89,376,756 (GRCm39)	missense	probably damaging	1.00
R9401:Slc4a4	UTSW	5	89,327,525 (GRCm39)	missense	probably damaging	1.00
R9457:Slc4a4	UTSW	5	89,362,432 (GRCm39)	missense	probably damaging	1.00
R9462:Slc4a4	UTSW	5	89,194,131 (GRCm39)	missense	probably damaging	1.00
R9681:Slc4a4	UTSW	5	89,102,723 (GRCm39)	nonsense	probably null
R9709:Slc4a4	UTSW	5	89,188,205 (GRCm39)	splice site	probably null
Z1177:Slc4a4	UTSW	5	89,280,318 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTCTGGCCAGAAGATAATTTGTTG -3'
(R):5'- ATTTGATCCTCACTGTGGCG -3'

Sequencing Primer
(F):5'- GCACCAGCATGTATGTATG -3'
(R):5'- CTATCTGTAAATGAGCCTAATAGGGG -3'

Posted On

2017-08-16