Incidental Mutation 'R6011:Slc4a1'
| ID |
479761 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc4a1
|
| Ensembl Gene |
ENSMUSG00000006574 |
| Gene Name |
solute carrier family 4 (anion exchanger), member 1 |
| Synonyms |
band 3, CD233, Ae1, erythrocyte membrane protein band 3, l11Jus51, Empb3 |
| MMRRC Submission |
043253-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6011 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
102239646-102256107 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 102243357 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 758
(V758G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000006749
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006749]
|
| AlphaFold |
P04919 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000006749
AA Change: V758G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000006749
Gene: ENSMUSG00000006574
AA Change: V758G
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 92.0%
|
| Validation Efficiency |
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
T |
A |
11: 84,136,570 (GRCm39) |
N533K |
probably benign |
Het |
| Adamts15 |
G |
T |
9: 30,814,082 (GRCm39) |
H694Q |
probably damaging |
Het |
| Adcy5 |
T |
C |
16: 34,977,598 (GRCm39) |
L377P |
probably benign |
Het |
| Add2 |
T |
C |
6: 86,075,607 (GRCm39) |
L252P |
probably damaging |
Het |
| Amer1 |
ATTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC |
ATTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC |
X: 94,470,889 (GRCm39) |
|
probably benign |
Het |
| Ankrd13d |
A |
G |
19: 4,331,962 (GRCm39) |
L39P |
probably damaging |
Het |
| Asic1 |
G |
T |
15: 99,596,960 (GRCm39) |
A541S |
probably benign |
Het |
| Bhmt1b |
A |
G |
18: 87,774,663 (GRCm39) |
E62G |
probably damaging |
Het |
| Bpifb2 |
A |
G |
2: 153,731,496 (GRCm39) |
|
probably null |
Het |
| Catsper3 |
A |
G |
13: 55,934,305 (GRCm39) |
I75M |
probably damaging |
Het |
| Ccser2 |
T |
C |
14: 36,601,532 (GRCm39) |
E837G |
probably benign |
Het |
| Clasp2 |
C |
T |
9: 113,705,315 (GRCm39) |
P557L |
probably benign |
Het |
| Clstn2 |
C |
T |
9: 97,338,579 (GRCm39) |
R860Q |
probably benign |
Het |
| Cplx3 |
A |
T |
9: 57,523,038 (GRCm39) |
D140E |
probably damaging |
Het |
| Cyp2c66 |
A |
G |
19: 39,130,380 (GRCm39) |
K72E |
probably benign |
Het |
| Cyp3a44 |
A |
G |
5: 145,738,084 (GRCm39) |
|
probably null |
Het |
| Disp2 |
G |
A |
2: 118,621,301 (GRCm39) |
V678I |
possibly damaging |
Het |
| Dock4 |
T |
C |
12: 40,867,756 (GRCm39) |
|
probably null |
Het |
| Eml3 |
T |
C |
19: 8,916,471 (GRCm39) |
Y688H |
probably damaging |
Het |
| Fam187a |
A |
G |
11: 102,776,267 (GRCm39) |
K24E |
probably damaging |
Het |
| Fhit |
T |
C |
14: 9,870,068 (GRCm38) |
K134E |
probably benign |
Het |
| Foxl3 |
A |
G |
5: 138,807,374 (GRCm39) |
*217W |
probably null |
Het |
| Gm16485 |
A |
T |
9: 8,972,454 (GRCm39) |
|
probably benign |
Het |
| Gm7247 |
C |
T |
14: 51,601,805 (GRCm39) |
S26F |
probably benign |
Het |
| Hmgxb3 |
G |
A |
18: 61,296,096 (GRCm39) |
T304I |
probably damaging |
Het |
| Lgsn |
A |
G |
1: 31,242,847 (GRCm39) |
S310G |
probably damaging |
Het |
| Muc21 |
T |
A |
17: 35,933,074 (GRCm39) |
|
probably benign |
Het |
| Niban2 |
T |
C |
2: 32,812,877 (GRCm39) |
Y482H |
probably damaging |
Het |
| Or12e13 |
A |
G |
2: 87,664,259 (GRCm39) |
N292S |
probably damaging |
Het |
| Or4k42 |
C |
A |
2: 111,320,192 (GRCm39) |
A104S |
probably benign |
Het |
| Or6c8b |
A |
T |
10: 128,882,508 (GRCm39) |
H141Q |
probably benign |
Het |
| Or7g25 |
T |
A |
9: 19,159,807 (GRCm39) |
E296V |
probably damaging |
Het |
| Or9i1b |
G |
A |
19: 13,896,521 (GRCm39) |
V46I |
probably benign |
Het |
| Pelo |
A |
G |
13: 115,226,302 (GRCm39) |
S52P |
probably benign |
Het |
| Prune2 |
A |
G |
19: 17,096,080 (GRCm39) |
N528S |
probably benign |
Het |
| Rfc3 |
T |
A |
5: 151,567,184 (GRCm39) |
I291L |
probably damaging |
Het |
| Rpl35 |
A |
T |
2: 38,894,813 (GRCm39) |
|
probably null |
Het |
| Sectm1b |
C |
T |
11: 120,946,704 (GRCm39) |
V64I |
possibly damaging |
Het |
| Serpina12 |
A |
G |
12: 104,001,993 (GRCm39) |
M241T |
probably damaging |
Het |
| Serpina1a |
T |
A |
12: 103,823,728 (GRCm39) |
D195V |
probably damaging |
Het |
| Sesn2 |
C |
T |
4: 132,226,708 (GRCm39) |
V129M |
probably damaging |
Het |
| Tmx4 |
A |
T |
2: 134,481,756 (GRCm39) |
Y56N |
probably damaging |
Het |
| Traj50 |
T |
C |
14: 54,405,091 (GRCm39) |
|
probably benign |
Het |
| Trio |
T |
G |
15: 27,735,631 (GRCm39) |
K2820Q |
probably damaging |
Het |
| Ttc28 |
G |
A |
5: 111,434,309 (GRCm39) |
G2417S |
probably benign |
Het |
| Usp32 |
T |
C |
11: 84,922,923 (GRCm39) |
D665G |
possibly damaging |
Het |
|
| Other mutations in Slc4a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01303:Slc4a1
|
APN |
11 |
102,248,790 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL01845:Slc4a1
|
APN |
11 |
102,244,729 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02166:Slc4a1
|
APN |
11 |
102,245,159 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02745:Slc4a1
|
APN |
11 |
102,247,093 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02801:Slc4a1
|
APN |
11 |
102,249,972 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
Rumor
|
UTSW |
11 |
102,252,048 (GRCm39) |
nonsense |
probably null |
|
|
A5278:Slc4a1
|
UTSW |
11 |
102,244,641 (GRCm39) |
splice site |
probably benign |
|
|
R0011:Slc4a1
|
UTSW |
11 |
102,247,936 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R0193:Slc4a1
|
UTSW |
11 |
102,243,510 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0445:Slc4a1
|
UTSW |
11 |
102,245,192 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0599:Slc4a1
|
UTSW |
11 |
102,248,741 (GRCm39) |
splice site |
probably benign |
|
|
R0635:Slc4a1
|
UTSW |
11 |
102,243,498 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R1496:Slc4a1
|
UTSW |
11 |
102,251,997 (GRCm39) |
missense |
probably benign |
|
|
R1816:Slc4a1
|
UTSW |
11 |
102,242,056 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1898:Slc4a1
|
UTSW |
11 |
102,241,133 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2361:Slc4a1
|
UTSW |
11 |
102,247,656 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2381:Slc4a1
|
UTSW |
11 |
102,250,128 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3806:Slc4a1
|
UTSW |
11 |
102,248,019 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3857:Slc4a1
|
UTSW |
11 |
102,247,947 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3858:Slc4a1
|
UTSW |
11 |
102,247,947 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4585:Slc4a1
|
UTSW |
11 |
102,252,245 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R4586:Slc4a1
|
UTSW |
11 |
102,252,245 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R4705:Slc4a1
|
UTSW |
11 |
102,247,084 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4914:Slc4a1
|
UTSW |
11 |
102,243,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4915:Slc4a1
|
UTSW |
11 |
102,243,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4916:Slc4a1
|
UTSW |
11 |
102,243,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4918:Slc4a1
|
UTSW |
11 |
102,243,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5001:Slc4a1
|
UTSW |
11 |
102,242,329 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5103:Slc4a1
|
UTSW |
11 |
102,244,087 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R5234:Slc4a1
|
UTSW |
11 |
102,252,209 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5308:Slc4a1
|
UTSW |
11 |
102,249,903 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5315:Slc4a1
|
UTSW |
11 |
102,249,080 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R5478:Slc4a1
|
UTSW |
11 |
102,241,140 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5521:Slc4a1
|
UTSW |
11 |
102,244,092 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5888:Slc4a1
|
UTSW |
11 |
102,247,351 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6547:Slc4a1
|
UTSW |
11 |
102,247,561 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6629:Slc4a1
|
UTSW |
11 |
102,252,048 (GRCm39) |
nonsense |
probably null |
|
|
R6717:Slc4a1
|
UTSW |
11 |
102,245,249 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7051:Slc4a1
|
UTSW |
11 |
102,247,084 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7103:Slc4a1
|
UTSW |
11 |
102,244,693 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7315:Slc4a1
|
UTSW |
11 |
102,247,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7331:Slc4a1
|
UTSW |
11 |
102,252,245 (GRCm39) |
start gained |
probably benign |
|
|
R7582:Slc4a1
|
UTSW |
11 |
102,243,403 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8560:Slc4a1
|
UTSW |
11 |
102,244,083 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9036:Slc4a1
|
UTSW |
11 |
102,243,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9274:Slc4a1
|
UTSW |
11 |
102,242,047 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9502:Slc4a1
|
UTSW |
11 |
102,247,674 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9568:Slc4a1
|
UTSW |
11 |
102,247,680 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9585:Slc4a1
|
UTSW |
11 |
102,247,915 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9651:Slc4a1
|
UTSW |
11 |
102,242,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF006:Slc4a1
|
UTSW |
11 |
102,247,542 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTCTGAGTGGGAAGAGCCAC -3'
(R):5'- TTCTCAAACAGCCAGAGGGAG -3'
Sequencing Primer
(F):5'- GGGAAGAGCCACCCCCAC -3'
(R):5'- GGCCCAGCTCACCTGACTTC -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation