Mutagenetix > Incidental Mutation

Incidental Mutation 'R0052:Slc4a4'

33033

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

038346-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0052 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

89034345-89387512 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 89304195 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Proline at position 502 (H502P)

Ref Sequence

ENSEMBL: ENSMUSP00000118413 (fasta)

Gene Model

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

AlphaFold

O88343

Predicted Effect

probably benign
Transcript: ENSMUST00000113218
AA Change: H537P

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

SMART Domains

Protein: ENSMUSP00000108844
Gene: ENSMUSG00000060961
AA Change: H537P

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

possibly damaging
Transcript: ENSMUST00000130041
AA Change: H502P

PolyPhen 2 Score 0.715 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000118413
Gene: ENSMUSG00000060961
AA Change: H502P

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: H546P

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

SMART Domains

Protein: ENSMUSP00000119325
Gene: ENSMUSG00000060961
AA Change: H546P

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: H546P

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

SMART Domains

Protein: ENSMUSP00000121744
Gene: ENSMUSG00000060961
AA Change: H546P

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

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.2%

Validation Efficiency

97% (65/67)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apba1	T	C	19: 23,893,315 (GRCm39)	S438P	possibly damaging	Het
Atosa	A	G	9: 74,926,265 (GRCm39)		probably benign	Het
Atp2a1	A	G	7: 126,057,069 (GRCm39)		probably benign	Het
Axin2	T	C	11: 108,840,096 (GRCm39)	Y735H	probably damaging	Het
Bicd2	T	A	13: 49,528,790 (GRCm39)	L184Q	probably damaging	Het
Bub1	G	A	2: 127,650,959 (GRCm39)	T618I	probably benign	Het
Catsperg2	A	G	7: 29,424,445 (GRCm39)		probably benign	Het
Ccdc73	T	A	2: 104,759,915 (GRCm39)		probably benign	Het
Crybg3	A	T	16: 59,386,019 (GRCm39)		probably benign	Het
Dsp	A	G	13: 38,381,340 (GRCm39)	D2096G	possibly damaging	Het
Eef2	C	CN	10: 81,014,602 (GRCm39)		probably null	Het
Elp3	A	G	14: 65,768,975 (GRCm39)	*548Q	probably null	Het
Eno4	A	G	19: 58,956,985 (GRCm39)	D357G	probably damaging	Het
Fcrl2	A	T	3: 87,164,085 (GRCm39)	I348N	possibly damaging	Het
Fgl2	A	T	5: 21,580,347 (GRCm39)	S230C	probably damaging	Het
Ginm1	T	A	10: 7,655,070 (GRCm39)	E57D	possibly damaging	Het
Gtf3c1	A	T	7: 125,267,143 (GRCm39)		probably null	Het
Herc1	G	T	9: 66,307,438 (GRCm39)	G1044V	probably damaging	Het
Hmcn1	G	A	1: 150,553,157 (GRCm39)	T2511M	probably damaging	Het
Iba57	C	T	11: 59,049,727 (GRCm39)	A207T	probably benign	Het
Itga9	T	A	9: 118,465,617 (GRCm39)	I157N	probably damaging	Het
Kalrn	A	G	16: 34,177,541 (GRCm39)	L208P	probably damaging	Het
Kcnj10	A	G	1: 172,196,491 (GRCm39)	T2A	probably benign	Het
Kdm1b	T	A	13: 47,217,593 (GRCm39)	C351S	probably damaging	Het
Kif21a	T	C	15: 90,855,060 (GRCm39)	E700G	probably damaging	Het
Mmd	C	T	11: 90,150,824 (GRCm39)		probably benign	Het
Mocs3	C	T	2: 168,073,602 (GRCm39)	P350S	probably benign	Het
Morn3	T	C	5: 123,184,726 (GRCm39)	Y38C	probably damaging	Het
Nacc1	A	T	8: 85,402,854 (GRCm39)	V313D	probably benign	Het
Nbeal1	T	A	1: 60,267,771 (GRCm39)		probably benign	Het
Neb	T	C	2: 52,163,992 (GRCm39)	K1989E	possibly damaging	Het
Nlrp3	C	T	11: 59,455,954 (GRCm39)	R917*	probably null	Het
Nlrp4b	T	A	7: 10,459,889 (GRCm39)	Y463*	probably null	Het
Perm1	A	T	4: 156,302,572 (GRCm39)	D372V	probably damaging	Het
Phf3	T	C	1: 30,847,848 (GRCm39)	T1232A	probably damaging	Het
Phldb3	G	A	7: 24,312,004 (GRCm39)	R106Q	probably benign	Het
Pld4	T	A	12: 112,734,291 (GRCm39)	F386I	probably benign	Het
Prex2	T	A	1: 11,230,380 (GRCm39)	L802Q	probably damaging	Het
Psd3	A	G	8: 68,335,631 (GRCm39)		probably null	Het
Ralgds	T	A	2: 28,434,400 (GRCm39)		probably null	Het
Rmdn2	A	G	17: 79,957,760 (GRCm39)	E16G	probably damaging	Het
Rnf111	A	T	9: 70,383,671 (GRCm39)	S87R	probably benign	Het
Slc9c1	A	G	16: 45,427,219 (GRCm39)		probably benign	Het
Slco3a1	A	T	7: 74,154,074 (GRCm39)	I166N	probably benign	Het
Snx5	A	T	2: 144,101,112 (GRCm39)		probably null	Het
Srgap1	T	C	10: 121,636,732 (GRCm39)	D741G	possibly damaging	Het
St8sia2	G	T	7: 73,593,038 (GRCm39)	Y339*	probably null	Het
St8sia2	A	T	7: 73,621,700 (GRCm39)	W86R	probably damaging	Het
Stk33	A	G	7: 108,878,876 (GRCm39)	L491P	possibly damaging	Het
Sult2a7	T	C	7: 14,199,133 (GRCm39)	Y298C	probably damaging	Het
Tdo2	T	A	3: 81,874,332 (GRCm39)	N210I	probably benign	Het
Thada	A	T	17: 84,762,586 (GRCm39)	N104K	probably damaging	Het
Timm8b	A	T	9: 50,516,330 (GRCm39)	D61V	possibly damaging	Het
Tshz1	G	A	18: 84,033,070 (GRCm39)	T446I	possibly damaging	Het
Ubap2l	T	C	3: 89,946,235 (GRCm39)	N123S	possibly damaging	Het
Vmn1r48	T	C	6: 90,013,246 (GRCm39)	E193G	possibly damaging	Het
Vmn1r69	C	T	7: 10,314,327 (GRCm39)	V135I	probably benign	Het
Vmn2r103	G	T	17: 20,031,903 (GRCm39)	G559V	probably benign	Het
Vmn2r26	T	A	6: 124,038,992 (GRCm39)	*856R	probably null	Het
Vmn2r88	A	G	14: 51,656,157 (GRCm39)	I798V	possibly damaging	Het
Vsir	C	T	10: 60,193,861 (GRCm39)	A108V	probably benign	Het
Zfp14	G	T	7: 29,737,753 (GRCm39)	Q411K	probably damaging	Het
Zfp236	A	T	18: 82,657,457 (GRCm39)	M762K	probably damaging	Het
Zfp462	G	A	4: 55,011,762 (GRCm39)	G1243S	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
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
R6088:Slc4a4	UTSW	5	89,345,563 (GRCm39)	missense	probably benign	0.12
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'- gcttccacctcagAAGTTATTATTGAAAGCA -3'
(R):5'- CCAGAATTAAACTAAAAGGTCCCACTTATCCA -3'

Sequencing Primer
(F):5'- TTGAAAGCAATAATTAGTGACCCCC -3'
(R):5'- TGTACTGCAACTGTGCAAAC -3'

Posted On

2013-05-09