Mutagenetix > Incidental Mutations

Incidental Mutation 'R4705:Slc4a1'

355152

Institutional Source

Beutler Lab

Gene Symbol

Slc4a1

Ensembl Gene

ENSMUSG00000006574

Gene Name

solute carrier family 4 (anion exchanger), member 1

Synonyms

Ae1, CD233, l11Jus51, band 3, Empb3, erythrocyte membrane protein band 3

MMRRC Submission

041953-MU

Accession Numbers

Genbank: NM_011403; MGI: 109393

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4705 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

102348824-102366203 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 102356258 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 501 (N501I)

Ref Sequence

ENSEMBL: ENSMUSP00000006749 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006749]

AlphaFold

P04919

Predicted Effect

possibly damaging
Transcript: ENSMUST00000006749
AA Change: N501I

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000006749
Gene: ENSMUSG00000006574
AA Change: N501I

Domain	Start	End	E-Value	Type
low complexity region	58	68	N/A	INTRINSIC
Pfam:Band_3_cyto	100	342	1.6e-81	PFAM
Pfam:HCO3_cotransp	391	584	5.7e-85	PFAM
Pfam:HCO3_cotransp	575	857	5.6e-118	PFAM
transmembrane domain	875	892	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128405

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145636

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149993

Meta Mutation Damage Score

0.3134

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.2%

Validation Efficiency

96% (113/118)

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 part of the anion exchanger (AE) family and is expressed in the erythrocyte plasma membrane, where it functions as a chloride/bicarbonate exchanger involved in carbon dioxide transport from tissues to lungs. The protein comprises two domains that are structurally and functionally distinct. The N-terminal 40kDa domain is located in the cytoplasm and acts as an attachment site for the red cell skeleton by binding ankyrin. The glycosylated C-terminal membrane-associated domain contains 12-14 membrane spanning segments and carries out the stilbene disulphonate-sensitive exchange transport of anions. The cytoplasmic tail at the extreme C-terminus of the membrane domain binds carbonic anhydrase II. The encoded protein associates with the red cell membrane protein glycophorin A and this association promotes the correct folding and translocation of the exchanger. This protein is predominantly dimeric but forms tetramers in the presence of ankyrin. Many mutations in this gene are known in man, and these mutations can lead to two types of disease: destabilization of red cell membrane leading to hereditary spherocytosis, and defective kidney acid secretion leading to distal renal tubular acidosis. Other mutations that do not give rise to disease result in novel blood group antigens, which form the Diego blood group system. Southeast Asian ovalocytosis (SAO, Melanesian ovalocytosis) results from the heterozygous presence of a deletion in the encoded protein and is common in areas where Plasmodium falciparum malaria is endemic. One null mutation in this gene is known, resulting in very severe anemia and nephrocalcinosis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for null mutations exhibit retarded growth, severe spherocytosis, hemolytic anemia, lack of erythrocyte glycophorin A, mitotic defects, and high postnatal mortality. [provided by MGI curators]

Allele List at MGI

All alleles(6) : Targeted, knock-out(3) Targeted, other(1) Spontaneous(1) Chemically induced(1)

Other mutations in this stock

Total: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1190002N15Rik	T	C	9: 94,520,635	N325D	possibly damaging	Het
1700056E22Rik	A	G	1: 184,033,172	V230A	possibly damaging	Het
2010315B03Rik	T	C	9: 124,294,001	T123A	possibly damaging	Het
4932438A13Rik	C	T	3: 37,041,889	T1108I	probably benign	Het
Abca4	T	C	3: 122,105,370	V667A	probably damaging	Het
Abcb5	A	G	12: 118,965,305	S4P	possibly damaging	Het
Adam25	G	T	8: 40,754,126	C143F	probably damaging	Het
Ahnak	C	A	19: 9,016,906	H5185N	probably benign	Het
Apobec4	A	G	1: 152,756,250	T10A	probably benign	Het
Ascc1	A	G	10: 60,049,802	Y225C	probably damaging	Het
Aspscr1	A	T	11: 120,688,945	K39N	possibly damaging	Het
Atf7ip	C	T	6: 136,561,194	P483L	probably damaging	Het
Atp11a	C	G	8: 12,813,118	P99R	probably damaging	Het
B4galnt1	G	T	10: 127,167,525	V172F	possibly damaging	Het
Bag6	C	A	17: 35,142,343	P476H	probably damaging	Het
BC049730	T	A	7: 24,713,509	L114Q	probably damaging	Het
C2cd3	A	G	7: 100,395,188	K326E	possibly damaging	Het
Casp1	A	G	9: 5,306,204	D363G	probably damaging	Het
Ccdc33	G	T	9: 58,117,557	Q129K	probably benign	Het
Ccdc88a	T	C	11: 29,422,586	I107T	probably benign	Het
Cela2a	T	C	4: 141,821,411	N138S	probably benign	Het
Cfap61	A	C	2: 146,035,202	R460S	probably damaging	Het
Clstn2	T	C	9: 97,463,559	N579D	possibly damaging	Het
Col13a1	C	A	10: 61,850,165	G683W	unknown	Het
Col4a2	G	A	8: 11,313,504	R14Q	possibly damaging	Het
Cpa6	A	G	1: 10,481,058	S164P	probably benign	Het
Cpq	A	G	15: 33,497,338	N408S	probably benign	Het
Ctnnal1	T	C	4: 56,812,579	T690A	probably benign	Het
Cx3cl1	A	T	8: 94,780,207	N280I	probably benign	Het
Cyp2b19	C	T	7: 26,757,292	R36C	probably benign	Het
Ddx51	T	C	5: 110,655,308	V269A	probably damaging	Het
Dlst	G	T	12: 85,118,842		probably null	Het
Dmkn	G	C	7: 30,763,981	A20P	probably damaging	Het
Dnhd1	T	C	7: 105,655,741	I330T	probably damaging	Het
Dock3	G	A	9: 107,025,336	H292Y	probably damaging	Het
Ell	A	G	8: 70,578,934	D94G	possibly damaging	Het
Enam	T	A	5: 88,503,791	L1053*	probably null	Het
Fcgbp	A	G	7: 28,107,296	K2230E	probably benign	Het
Frmd5	G	T	2: 121,562,863		probably benign	Het
Gas2l1	G	A	11: 5,060,867	S654L	possibly damaging	Het
Gltpd2	G	T	11: 70,520,140	E86*	probably null	Het
Glyat	T	C	19: 12,651,297	L152P	possibly damaging	Het
Gm17330	T	C	12: 23,968,782	T22A	probably damaging	Het
Gm9931	T	A	1: 147,281,853		noncoding transcript	Het
Gpatch1	A	T	7: 35,299,305		probably null	Het
Gpr4	T	C	7: 19,222,894	L247P	probably damaging	Het
Gtpbp3	G	A	8: 71,491,114	E214K	probably benign	Het
Hdac7	G	T	15: 97,811,587	Q21K	probably damaging	Het
Hivep3	A	G	4: 119,872,050		probably benign	Het
Hk2	C	T	6: 82,739,650	M300I	possibly damaging	Het
Ighv1-61	T	C	12: 115,359,279	Y71C	probably damaging	Het
Il1f8	T	C	2: 24,154,618	V10A	probably benign	Het
Inpp5f	G	T	7: 128,663,987	S152I	probably damaging	Het
Jag1	C	A	2: 137,096,309	W257L	probably damaging	Het
Jak2	T	A	19: 29,294,915	N612K	possibly damaging	Het
Kalrn	T	C	16: 34,203,957	D610G	probably damaging	Het
Kbtbd6	A	G	14: 79,452,606	D247G	probably benign	Het
Kif15	A	G	9: 122,959,993		probably null	Het
Kndc1	A	G	7: 139,930,123	T1293A	possibly damaging	Het
Lpar5	T	C	6: 125,082,207	I297T	possibly damaging	Het
Lpin2	T	A	17: 71,232,143		probably benign	Het
Mfsd4a	A	T	1: 132,053,571	L230Q	probably damaging	Het
Mmp8	T	C	9: 7,565,549	V313A	probably benign	Het
Mrpl19	A	T	6: 81,964,285	D98E	probably damaging	Het
Mybl1	A	G	1: 9,690,115	I86T	probably damaging	Het
Nadk	C	A	4: 155,585,227	P157T	probably benign	Het
Necab1	T	C	4: 15,052,628	T117A	probably damaging	Het
Nol11	A	G	11: 107,184,718		probably benign	Het
Nucb2	G	A	7: 116,540,027		probably null	Het
Nupl1	G	T	14: 60,251,215	P19T	unknown	Het
Odf2	T	A	2: 29,904,034	L301Q	probably damaging	Het
Oit1	T	C	14: 8,349,347	E201G	probably benign	Het
Olfr374	T	A	8: 72,110,200	F211L	probably damaging	Het
Olfr736	A	G	14: 50,392,800	I15V	probably benign	Het
Oog4	T	C	4: 143,438,875	Y234C	probably benign	Het
Papln	T	C	12: 83,777,208		probably null	Het
Paqr6	C	T	3: 88,365,929	A76V	probably benign	Het
Pclo	A	G	5: 14,676,480		probably benign	Het
Pdzd8	T	C	19: 59,345,311	T93A	possibly damaging	Het
Pkdrej	A	T	15: 85,821,167	Y189*	probably null	Het
Pknox2	A	T	9: 36,923,638	N178K	possibly damaging	Het
Pla2g15	T	A	8: 106,163,059	M321K	probably benign	Het
Plxnd1	A	C	6: 115,958,620	L1735R	probably damaging	Het
Polm	T	A	11: 5,837,663	D30V	possibly damaging	Het
Rap1gap2	T	A	11: 74,437,439	I100F	probably damaging	Het
Rasgef1c	T	A	11: 49,978,467	W414R	probably benign	Het
Rassf1	A	G	9: 107,557,867	D187G	probably benign	Het
Rhag	T	C	17: 40,836,438	I397T	probably benign	Het
Rnft2	A	G	5: 118,228,863	F269S	probably damaging	Het
Rnmt	T	C	18: 68,314,125	F360S	probably damaging	Het
Ror2	C	T	13: 53,117,297	A329T	probably benign	Het
Slc4a7	T	A	14: 14,733,856	S89T	probably damaging	Het
Sptbn1	G	A	11: 30,100,660	H2310Y	probably benign	Het
Tbc1d9b	C	A	11: 50,140,462	N103K	probably benign	Het
Tbxas1	T	C	6: 39,083,857		probably null	Het
Tmem100	C	T	11: 90,035,563	T72I	probably damaging	Het
Ttc38	A	G	15: 85,852,963	T350A	probably benign	Het
Ubr4	C	T	4: 139,450,529	T3241M	probably damaging	Het
Unc13d	A	T	11: 116,073,388	M350K	possibly damaging	Het
Vit	T	C	17: 78,625,114	I550T	probably damaging	Het
Vmn1r31	C	A	6: 58,471,968	*304L	probably null	Het
Zbtb12	T	A	17: 34,896,401	H387Q	possibly damaging	Het

Other mutations in Slc4a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01303:Slc4a1	APN	11	102357964	missense	probably benign	0.09
IGL01845:Slc4a1	APN	11	102353903	missense	probably benign	0.01
IGL02166:Slc4a1	APN	11	102354333	missense	probably damaging	1.00
IGL02745:Slc4a1	APN	11	102356267	missense	probably damaging	1.00
IGL02801:Slc4a1	APN	11	102359146	critical splice acceptor site	probably null
Rumor	UTSW	11	102361222	nonsense	probably null
A5278:Slc4a1	UTSW	11	102353815	splice site	probably benign
R0011:Slc4a1	UTSW	11	102357110	missense	possibly damaging	0.51
R0193:Slc4a1	UTSW	11	102352684	missense	possibly damaging	0.91
R0445:Slc4a1	UTSW	11	102354366	missense	probably benign	0.04
R0599:Slc4a1	UTSW	11	102357915	splice site	probably benign
R0635:Slc4a1	UTSW	11	102352672	missense	possibly damaging	0.78
R1496:Slc4a1	UTSW	11	102361171	missense	probably benign
R1816:Slc4a1	UTSW	11	102351230	missense	probably damaging	1.00
R1898:Slc4a1	UTSW	11	102350307	missense	probably damaging	1.00
R2361:Slc4a1	UTSW	11	102356830	missense	probably damaging	1.00
R2381:Slc4a1	UTSW	11	102359302	missense	probably benign	0.00
R3806:Slc4a1	UTSW	11	102357193	missense	probably benign	0.00
R3857:Slc4a1	UTSW	11	102357121	missense	probably benign	0.01
R3858:Slc4a1	UTSW	11	102357121	missense	probably benign	0.01
R4585:Slc4a1	UTSW	11	102361419	utr 5 prime	probably benign
R4586:Slc4a1	UTSW	11	102361419	utr 5 prime	probably benign
R4914:Slc4a1	UTSW	11	102352453	missense	probably damaging	1.00
R4915:Slc4a1	UTSW	11	102352453	missense	probably damaging	1.00
R4916:Slc4a1	UTSW	11	102352453	missense	probably damaging	1.00
R4918:Slc4a1	UTSW	11	102352453	missense	probably damaging	1.00
R5001:Slc4a1	UTSW	11	102351503	missense	probably benign	0.12
R5103:Slc4a1	UTSW	11	102353261	missense	possibly damaging	0.65
R5234:Slc4a1	UTSW	11	102361383	missense	probably benign	0.03
R5308:Slc4a1	UTSW	11	102359077	missense	probably damaging	0.98
R5315:Slc4a1	UTSW	11	102358254	missense	possibly damaging	0.77
R5478:Slc4a1	UTSW	11	102350314	missense	probably damaging	0.98
R5521:Slc4a1	UTSW	11	102353266	missense	probably benign	0.01
R5888:Slc4a1	UTSW	11	102356525	missense	probably damaging	0.98
R6011:Slc4a1	UTSW	11	102352531	missense	probably damaging	1.00
R6547:Slc4a1	UTSW	11	102356735	missense	probably damaging	0.99
R6629:Slc4a1	UTSW	11	102361222	nonsense	probably null
R6717:Slc4a1	UTSW	11	102354423	missense	probably damaging	0.99
R7051:Slc4a1	UTSW	11	102356258	missense	probably benign	0.12
R7103:Slc4a1	UTSW	11	102353867	missense	probably damaging	0.97
R7315:Slc4a1	UTSW	11	102356484	missense	probably damaging	1.00
R7331:Slc4a1	UTSW	11	102361419	start gained	probably benign
R7582:Slc4a1	UTSW	11	102352577	missense	probably damaging	0.99
R8560:Slc4a1	UTSW	11	102353257	missense	possibly damaging	0.94
R9036:Slc4a1	UTSW	11	102352453	missense	probably damaging	1.00
R9274:Slc4a1	UTSW	11	102351221	missense	probably benign	0.00
RF006:Slc4a1	UTSW	11	102356716	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- ACACGCTATGCCTGAGTGTTG -3'
(R):5'- CTGCTTGTGCTAGGCTTCTCAG -3'

Sequencing Primer
(F):5'- CCTTGATCAGCTTGGAGAAAGTCTC -3'
(R):5'- TGCTAGGCTTCTCAGGACCC -3'

Posted On

2015-10-21