Mutagenetix > Incidental Mutations

Incidental Mutation 'R8520:Slc4a3'

658571

Institutional Source

Beutler Lab

Gene Symbol

Slc4a3

Ensembl Gene

ENSMUSG00000006576

Gene Name

solute carrier family 4 (anion exchanger), member 3

Synonyms

A930038D23Rik, Ae3

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

R8520 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

75546266-75562172 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 75549862 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 9 (M9T)

Ref Sequence

ENSEMBL: ENSMUSP00000116488 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027415] [ENSMUST00000124341] [ENSMUST00000138814] [ENSMUST00000150142] [ENSMUST00000154101]

AlphaFold

P16283

Predicted Effect

probably benign
Transcript: ENSMUST00000027415

SMART Domains

Protein: ENSMUSP00000027415
Gene: ENSMUSG00000006576

Domain	Start	End	E-Value	Type
low complexity region	74	83	N/A	INTRINSIC
low complexity region	88	100	N/A	INTRINSIC
low complexity region	104	115	N/A	INTRINSIC
low complexity region	128	161	N/A	INTRINSIC
low complexity region	194	216	N/A	INTRINSIC
low complexity region	304	316	N/A	INTRINSIC
Pfam:Band_3_cyto	349	500	7.9e-39	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000124341

SMART Domains

Protein: ENSMUSP00000116747
Gene: ENSMUSG00000006576

Domain	Start	End	E-Value	Type
low complexity region	74	83	N/A	INTRINSIC
low complexity region	88	100	N/A	INTRINSIC
low complexity region	104	115	N/A	INTRINSIC
low complexity region	128	161	N/A	INTRINSIC
low complexity region	194	216	N/A	INTRINSIC
low complexity region	304	316	N/A	INTRINSIC
Pfam:Band_3_cyto	349	618	2.9e-106	PFAM
low complexity region	629	639	N/A	INTRINSIC
Pfam:HCO3_cotransp	674	1156	3.6e-203	PFAM
transmembrane domain	1161	1183	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000132110

SMART Domains

Protein: ENSMUSP00000119942
Gene: ENSMUSG00000006576

Domain	Start	End	E-Value	Type
SCOP:d1hynp_	4	72	9e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000138814

SMART Domains

Protein: ENSMUSP00000122749
Gene: ENSMUSG00000006576

Domain	Start	End	E-Value	Type
low complexity region	74	83	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000145258

SMART Domains

Protein: ENSMUSP00000119860
Gene: ENSMUSG00000006576

Domain	Start	End	E-Value	Type
low complexity region	5	17	N/A	INTRINSIC
Pfam:Band_3_cyto	50	193	4.2e-42	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000150142

SMART Domains

Protein: ENSMUSP00000120078
Gene: ENSMUSG00000006576

Domain	Start	End	E-Value	Type
low complexity region	74	83	N/A	INTRINSIC
low complexity region	88	100	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000154101
AA Change: M9T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000116488
Gene: ENSMUSG00000006576
AA Change: M9T

Domain	Start	End	E-Value	Type
low complexity region	107	119	N/A	INTRINSIC
Pfam:Band_3_cyto	152	227	2e-32	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (51/51)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a plasma membrane anion exchange protein. The encoded protein has been found in brain, heart, kidney, small intestine, and lung. [provided by RefSeq, May 2016]
PHENOTYPE: Homozygotes for one knock-out allele show inner retina defects including selective ERG b-wave depression, optic nerve and retinal vessel anomalies, sheathing of retinal vessels and late onset photoreceptor death. Homozygotes for another knock-out allele are more sensitive to seizure-inducing agents. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921517D22Rik	A	T	13: 59,690,609	F136L	possibly damaging	Het
A430033K04Rik	T	A	5: 138,646,706	N284K	possibly damaging	Het
Abcb1a	T	C	5: 8,685,346	I151T	possibly damaging	Het
Adam28	C	T	14: 68,642,083	G172D	probably damaging	Het
Adcy6	A	G	15: 98,604,160	V191A	probably benign	Het
Ankrd52	T	C	10: 128,389,490	L911P	probably damaging	Het
C5ar1	A	G	7: 16,248,151	S315P	probably damaging	Het
Cubn	A	G	2: 13,308,520		probably null	Het
Dlec1	T	C	9: 119,112,209	S276P	probably benign	Het
Dnah14	T	A	1: 181,653,638	I1564N	probably damaging	Het
Dsg2	G	A	18: 20,579,451	G171R	probably damaging	Het
Dusp13	C	A	14: 21,743,470	G208*	probably null	Het
Ebf3	A	C	7: 137,201,124		probably null	Het
Fbn2	A	T	18: 58,038,198		probably null	Het
Fbxo27	A	G	7: 28,693,342	D16G	probably benign	Het
G6pc3	A	G	11: 102,193,108	S187G	probably benign	Het
Gucy2d	G	A	7: 98,472,306	V995I	probably null	Het
Hmcn2	C	A	2: 31,354,714	P728T	probably damaging	Het
Il1r2	T	C	1: 40,105,339	L62P	probably damaging	Het
Ints7	T	C	1: 191,582,491	S63P	probably damaging	Het
Mcf2l	C	A	8: 12,880,089	D36E	probably benign	Het
Mfsd13b	T	G	7: 120,991,363	I109S	probably benign	Het
Mier2	G	A	10: 79,542,429	H385Y	possibly damaging	Het
Mydgf	C	A	17: 56,183,734		probably null	Het
Nanog	A	T	6: 122,713,516	L268F	possibly damaging	Het
Olfr305	A	T	7: 86,364,263	C25S	probably benign	Het
Olfr536	T	A	7: 140,504,402	D19V	probably benign	Het
Otud4	T	A	8: 79,659,267	N256K	probably damaging	Het
P2rx1	A	T	11: 73,008,953	D128V	probably benign	Het
Pappa	G	A	4: 65,335,764	V1552I	probably benign	Het
Pax8	A	T	2: 24,443,022	F103I	probably damaging	Het
Ptk2b	T	A	14: 66,174,755	S396C	probably damaging	Het
Rnf148	A	G	6: 23,654,170	Y276H	probably damaging	Het
Sec11c	A	T	18: 65,814,840	I93L	probably damaging	Het
Serpinb2	T	A	1: 107,523,180	N217K	probably benign	Het
Slc2a13	T	A	15: 91,572,902	T66S	probably damaging	Het
Sord	G	A	2: 122,256,942	V176I	possibly damaging	Het
Thbs4	G	A	13: 92,754,284	Q892*	probably null	Het
Thsd7b	T	A	1: 129,921,420	D956E	probably benign	Het
Tmem251	T	A	12: 102,744,172		probably null	Het
Topbp1	T	A	9: 103,308,977		probably null	Het
Tst	T	C	15: 78,405,253	E194G	probably damaging	Het
Ttk	T	A	9: 83,857,327	S484T	possibly damaging	Het
U2surp	A	G	9: 95,502,554	S26P	possibly damaging	Het
Ugt2b37	C	T	5: 87,240,855	A500T	probably benign	Het
Utrn	A	T	10: 12,670,186	Y1669*	probably null	Het
Vmn2r23	A	T	6: 123,741,656	Q656L	probably damaging	Het
Wdr7	A	G	18: 63,987,160	N1424S	probably benign	Het
Xkr9	A	G	1: 13,701,379	D373G	probably benign	Het
Zfp984	T	A	4: 147,756,211	Y61F	probably benign	Het

Other mutations in Slc4a3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00509:Slc4a3	APN	1	75555083	missense	probably damaging	1.00
IGL00979:Slc4a3	APN	1	75554247	missense	probably damaging	1.00
IGL01488:Slc4a3	APN	1	75548876	missense	probably benign	0.45
IGL01567:Slc4a3	APN	1	75550882	missense	probably damaging	1.00
IGL03090:Slc4a3	APN	1	75555017	missense	probably benign	0.00
IGL03135:Slc4a3	APN	1	75547935	unclassified	probably benign
R0004:Slc4a3	UTSW	1	75557009	unclassified	probably benign
R0479:Slc4a3	UTSW	1	75551828	unclassified	probably benign
R0507:Slc4a3	UTSW	1	75556081	missense	probably damaging	1.00
R0591:Slc4a3	UTSW	1	75549021	missense	probably damaging	1.00
R0742:Slc4a3	UTSW	1	75556081	missense	probably damaging	1.00
R1577:Slc4a3	UTSW	1	75550891	missense	probably damaging	1.00
R1794:Slc4a3	UTSW	1	75557308	missense	probably damaging	0.99
R1804:Slc4a3	UTSW	1	75551717	missense	probably damaging	1.00
R1911:Slc4a3	UTSW	1	75553723	missense	probably damaging	1.00
R1974:Slc4a3	UTSW	1	75552191	nonsense	probably null
R2696:Slc4a3	UTSW	1	75555475	missense	possibly damaging	0.46
R2995:Slc4a3	UTSW	1	75552662	nonsense	probably null
R3962:Slc4a3	UTSW	1	75556754	missense	probably damaging	0.99
R4025:Slc4a3	UTSW	1	75549041	missense	probably damaging	1.00
R4824:Slc4a3	UTSW	1	75550623	missense	possibly damaging	0.54
R4858:Slc4a3	UTSW	1	75555085	missense	probably damaging	1.00
R5075:Slc4a3	UTSW	1	75557368	missense	probably damaging	1.00
R5450:Slc4a3	UTSW	1	75552656	missense	probably damaging	1.00
R5636:Slc4a3	UTSW	1	75554216	missense	possibly damaging	0.82
R5728:Slc4a3	UTSW	1	75549840	missense	probably benign	0.05
R5921:Slc4a3	UTSW	1	75557444	critical splice donor site	probably null
R5969:Slc4a3	UTSW	1	75549979	missense	probably damaging	0.98
R6272:Slc4a3	UTSW	1	75554697	critical splice donor site	probably null
R6749:Slc4a3	UTSW	1	75554538	nonsense	probably null
R6788:Slc4a3	UTSW	1	75551315	missense	probably damaging	1.00
R7308:Slc4a3	UTSW	1	75557362	missense	probably benign	0.00
R7487:Slc4a3	UTSW	1	75553377	missense	probably benign	0.05
R7673:Slc4a3	UTSW	1	75557351	missense	probably damaging	1.00
R7968:Slc4a3	UTSW	1	75551363	missense	probably benign	0.00
R8004:Slc4a3	UTSW	1	75549067	critical splice donor site	probably null
R8084:Slc4a3	UTSW	1	75555945	missense	probably benign	0.25
R8109:Slc4a3	UTSW	1	75551804	missense	possibly damaging	0.88
R8221:Slc4a3	UTSW	1	75552166	missense	probably benign	0.02
R8358:Slc4a3	UTSW	1	75553715	missense	probably damaging	1.00
R8759:Slc4a3	UTSW	1	75554638	missense	probably damaging	1.00
R8988:Slc4a3	UTSW	1	75551313	missense	probably damaging	1.00
Z1176:Slc4a3	UTSW	1	75554235	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CGGGAGGGTGTATTTACAGATC -3'
(R):5'- GCCTAGTTACTCACAAGCAGC -3'

Sequencing Primer
(F):5'- ATCTAGGGTGGGGGCTGATAAC -3'
(R):5'- TAGTTACTCACAAGCAGCTACCC -3'

Posted On

2021-01-18