Incidental Mutation 'R0507:Slc4a3'
| ID |
47638 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc4a3
|
| Ensembl Gene |
ENSMUSG00000006576 |
| Gene Name |
solute carrier family 4 (anion exchanger), member 3 |
| Synonyms |
Ae3, A930038D23Rik |
| MMRRC Submission |
038702-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.094)
|
| Stock # |
R0507 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
75522688-75536075 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 75532725 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 995
(I995K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116747
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027415]
[ENSMUST00000124341]
[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 damaging
Transcript: ENSMUST00000124341
AA Change: I995K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000116747
Gene: ENSMUSG00000006576
AA Change: I995K
| 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 |
noncoding transcript
Transcript: ENSMUST00000132612
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142257
|
| 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: ENSMUST00000154101
|
| SMART Domains |
Protein: ENSMUSP00000116488
Gene: ENSMUSG00000006576
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
107 |
119 |
N/A |
INTRINSIC |
|
Pfam:Band_3_cyto
|
152 |
227 |
2e-32 |
PFAM |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 95.0%
|
| Validation Efficiency |
100% (72/72) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
T |
A |
10: 79,838,655 (GRCm39) |
|
probably benign |
Het |
| Adamts16 |
T |
C |
13: 70,916,766 (GRCm39) |
D742G |
probably benign |
Het |
| Akap9 |
G |
A |
5: 4,119,043 (GRCm39) |
E3517K |
probably benign |
Het |
| Arfgef3 |
T |
C |
10: 18,467,369 (GRCm39) |
T1944A |
probably damaging |
Het |
| Bsx |
A |
G |
9: 40,787,796 (GRCm39) |
|
probably benign |
Het |
| Cct2 |
A |
T |
10: 116,891,151 (GRCm39) |
|
probably null |
Het |
| Cdkl4 |
T |
C |
17: 80,851,237 (GRCm39) |
D155G |
probably benign |
Het |
| Cep250 |
C |
T |
2: 155,834,452 (GRCm39) |
R2126C |
possibly damaging |
Het |
| Cep97 |
A |
T |
16: 55,726,245 (GRCm39) |
|
probably benign |
Het |
| Cpne3 |
C |
T |
4: 19,532,544 (GRCm39) |
|
probably benign |
Het |
| Csmd1 |
T |
C |
8: 16,235,358 (GRCm39) |
|
probably benign |
Het |
| Cx3cr1 |
C |
A |
9: 119,881,022 (GRCm39) |
D127Y |
probably damaging |
Het |
| Dcdc2a |
A |
G |
13: 25,286,572 (GRCm39) |
Q165R |
probably damaging |
Het |
| Ddx17 |
A |
G |
15: 79,421,758 (GRCm39) |
|
probably benign |
Het |
| Dicer1 |
A |
G |
12: 104,657,917 (GRCm39) |
S1886P |
probably damaging |
Het |
| Egf |
T |
C |
3: 129,474,828 (GRCm39) |
D571G |
possibly damaging |
Het |
| Fyb1 |
A |
G |
15: 6,664,297 (GRCm39) |
D460G |
probably benign |
Het |
| Gbp2 |
G |
T |
3: 142,335,794 (GRCm39) |
D165Y |
probably damaging |
Het |
| Gm14412 |
A |
T |
2: 177,006,325 (GRCm39) |
N523K |
possibly damaging |
Het |
| Gsap |
C |
T |
5: 21,474,961 (GRCm39) |
T540I |
possibly damaging |
Het |
| Gucy2d |
C |
A |
7: 98,108,209 (GRCm39) |
|
probably null |
Het |
| Icam4 |
C |
A |
9: 20,940,799 (GRCm39) |
P17Q |
possibly damaging |
Het |
| Lyz1 |
A |
T |
10: 117,125,022 (GRCm39) |
|
probably null |
Het |
| Matcap1 |
T |
C |
8: 106,011,351 (GRCm39) |
N261S |
probably damaging |
Het |
| Mbd6 |
A |
G |
10: 127,119,389 (GRCm39) |
|
probably benign |
Het |
| Mroh3 |
A |
T |
1: 136,118,718 (GRCm39) |
I533N |
probably damaging |
Het |
| Muc4 |
A |
T |
16: 32,569,887 (GRCm39) |
M316L |
probably benign |
Het |
| Myof |
A |
G |
19: 37,889,725 (GRCm39) |
I1282T |
possibly damaging |
Het |
| Ncald |
T |
G |
15: 37,397,528 (GRCm39) |
I51L |
probably benign |
Het |
| Negr1 |
T |
A |
3: 156,267,862 (GRCm39) |
S11T |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,920,167 (GRCm39) |
N6735D |
probably damaging |
Het |
| Or52n4b |
T |
C |
7: 108,144,292 (GRCm39) |
S185P |
probably damaging |
Het |
| Or5b105 |
G |
A |
19: 13,080,642 (GRCm39) |
R3C |
possibly damaging |
Het |
| Or6c1b |
A |
T |
10: 129,273,157 (GRCm39) |
M159L |
probably benign |
Het |
| Or9q1 |
T |
A |
19: 13,805,140 (GRCm39) |
I207F |
possibly damaging |
Het |
| Otogl |
A |
G |
10: 107,702,601 (GRCm39) |
V684A |
possibly damaging |
Het |
| Palm3 |
A |
G |
8: 84,754,958 (GRCm39) |
T157A |
probably benign |
Het |
| Pard3 |
T |
A |
8: 128,097,967 (GRCm39) |
|
probably benign |
Het |
| Pcdh15 |
A |
G |
10: 74,457,129 (GRCm39) |
D1302G |
probably damaging |
Het |
| Pi16 |
G |
A |
17: 29,546,826 (GRCm39) |
E467K |
possibly damaging |
Het |
| Plec |
A |
T |
15: 76,056,983 (GRCm39) |
I4183N |
probably damaging |
Het |
| Ppp1r13l |
T |
C |
7: 19,109,739 (GRCm39) |
L720P |
possibly damaging |
Het |
| Prag1 |
A |
G |
8: 36,571,277 (GRCm39) |
E620G |
probably damaging |
Het |
| Ralbp1 |
G |
A |
17: 66,156,955 (GRCm39) |
T646M |
probably benign |
Het |
| Rnf182 |
T |
G |
13: 43,821,823 (GRCm39) |
S125A |
probably benign |
Het |
| Rpe |
C |
T |
1: 66,754,300 (GRCm39) |
T124I |
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,185,875 (GRCm39) |
I514T |
probably benign |
Het |
| Sec13 |
A |
T |
6: 113,712,080 (GRCm39) |
I85N |
probably damaging |
Het |
| Siglec1 |
C |
T |
2: 130,916,445 (GRCm39) |
|
probably benign |
Het |
| Skint5 |
T |
C |
4: 113,425,127 (GRCm39) |
|
probably null |
Het |
| Smyd4 |
T |
A |
11: 75,290,534 (GRCm39) |
S545T |
possibly damaging |
Het |
| Steap3 |
C |
T |
1: 120,169,313 (GRCm39) |
R328H |
possibly damaging |
Het |
| Tgm6 |
G |
A |
2: 129,980,751 (GRCm39) |
E183K |
possibly damaging |
Het |
| Themis |
T |
A |
10: 28,657,828 (GRCm39) |
V132E |
possibly damaging |
Het |
| Thsd1 |
T |
A |
8: 22,748,695 (GRCm39) |
I461N |
probably damaging |
Het |
| Ttk |
T |
G |
9: 83,750,120 (GRCm39) |
S692A |
probably damaging |
Het |
| Twf1 |
A |
G |
15: 94,483,411 (GRCm39) |
M99T |
probably damaging |
Het |
| Uchl3 |
T |
A |
14: 101,904,443 (GRCm39) |
L89* |
probably null |
Het |
| Uhmk1 |
A |
G |
1: 170,034,760 (GRCm39) |
V316A |
probably damaging |
Het |
| Unc80 |
A |
G |
1: 66,567,052 (GRCm39) |
N886S |
possibly damaging |
Het |
| Vash2 |
G |
T |
1: 190,699,115 (GRCm39) |
|
probably benign |
Het |
| Vmn1r200 |
G |
A |
13: 22,579,718 (GRCm39) |
E174K |
probably benign |
Het |
| Vps16 |
T |
C |
2: 130,279,632 (GRCm39) |
|
probably null |
Het |
| Wdr73 |
T |
C |
7: 80,541,594 (GRCm39) |
E316G |
possibly damaging |
Het |
| Xpo1 |
T |
C |
11: 23,244,682 (GRCm39) |
V1020A |
possibly damaging |
Het |
| Ylpm1 |
T |
A |
12: 85,075,886 (GRCm39) |
N870K |
probably benign |
Het |
| Zfhx4 |
C |
T |
3: 5,466,048 (GRCm39) |
Q2069* |
probably null |
Het |
| Zfp1005 |
T |
A |
2: 150,110,044 (GRCm39) |
C245S |
possibly damaging |
Het |
| Zfp512b |
C |
A |
2: 181,226,757 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Slc4a3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00509:Slc4a3
|
APN |
1 |
75,531,727 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00979:Slc4a3
|
APN |
1 |
75,530,891 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01488:Slc4a3
|
APN |
1 |
75,525,520 (GRCm39) |
missense |
probably benign |
0.45 |
|
IGL01567:Slc4a3
|
APN |
1 |
75,527,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03090:Slc4a3
|
APN |
1 |
75,531,661 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03135:Slc4a3
|
APN |
1 |
75,524,579 (GRCm39) |
unclassified |
probably benign |
|
|
R0004:Slc4a3
|
UTSW |
1 |
75,533,653 (GRCm39) |
unclassified |
probably benign |
|
|
R0479:Slc4a3
|
UTSW |
1 |
75,528,472 (GRCm39) |
unclassified |
probably benign |
|
|
R0591:Slc4a3
|
UTSW |
1 |
75,525,665 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0742:Slc4a3
|
UTSW |
1 |
75,532,725 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1577:Slc4a3
|
UTSW |
1 |
75,527,535 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1794:Slc4a3
|
UTSW |
1 |
75,533,952 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1804:Slc4a3
|
UTSW |
1 |
75,528,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1911:Slc4a3
|
UTSW |
1 |
75,530,367 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1974:Slc4a3
|
UTSW |
1 |
75,528,835 (GRCm39) |
nonsense |
probably null |
|
|
R2696:Slc4a3
|
UTSW |
1 |
75,532,119 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R2995:Slc4a3
|
UTSW |
1 |
75,529,306 (GRCm39) |
nonsense |
probably null |
|
|
R3962:Slc4a3
|
UTSW |
1 |
75,533,398 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4025:Slc4a3
|
UTSW |
1 |
75,525,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4824:Slc4a3
|
UTSW |
1 |
75,527,267 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R4858:Slc4a3
|
UTSW |
1 |
75,531,729 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5075:Slc4a3
|
UTSW |
1 |
75,534,012 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5450:Slc4a3
|
UTSW |
1 |
75,529,300 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5636:Slc4a3
|
UTSW |
1 |
75,530,860 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5728:Slc4a3
|
UTSW |
1 |
75,526,484 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5921:Slc4a3
|
UTSW |
1 |
75,534,088 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5969:Slc4a3
|
UTSW |
1 |
75,526,623 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6272:Slc4a3
|
UTSW |
1 |
75,531,341 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6749:Slc4a3
|
UTSW |
1 |
75,531,182 (GRCm39) |
nonsense |
probably null |
|
|
R6788:Slc4a3
|
UTSW |
1 |
75,527,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7308:Slc4a3
|
UTSW |
1 |
75,534,006 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7487:Slc4a3
|
UTSW |
1 |
75,530,021 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7673:Slc4a3
|
UTSW |
1 |
75,533,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7968:Slc4a3
|
UTSW |
1 |
75,528,007 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8004:Slc4a3
|
UTSW |
1 |
75,525,711 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8084:Slc4a3
|
UTSW |
1 |
75,532,589 (GRCm39) |
missense |
probably benign |
0.25 |
|
R8109:Slc4a3
|
UTSW |
1 |
75,528,448 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8221:Slc4a3
|
UTSW |
1 |
75,528,810 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8358:Slc4a3
|
UTSW |
1 |
75,530,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8520:Slc4a3
|
UTSW |
1 |
75,526,506 (GRCm39) |
missense |
probably benign |
|
|
R8759:Slc4a3
|
UTSW |
1 |
75,531,282 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8988:Slc4a3
|
UTSW |
1 |
75,527,957 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9515:Slc4a3
|
UTSW |
1 |
75,533,612 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9758:Slc4a3
|
UTSW |
1 |
75,534,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Slc4a3
|
UTSW |
1 |
75,530,879 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCCTGCCATGCAGAAGCTGAC -3'
(R):5'- TCTGAGAACTTCCAAGTGCCACCC -3'
Sequencing Primer
(F):5'- AGAAGCTGACGGTGCCTAC -3'
(R):5'- tcctcctcctcctcctcc -3'
|
| Posted On |
2013-06-12 |
Incidental Mutation