Incidental Mutation 'R8109:Slc4a3'
| ID |
643845 |
| 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 |
067538-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.094)
|
| Stock # |
R8109 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
75522688-75536075 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 75528448 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 481
(D481G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116747
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027415]
[ENSMUST00000124341]
[ENSMUST00000138814]
[ENSMUST00000150142]
[ENSMUST00000154101]
|
| AlphaFold |
P16283 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027415
AA Change: D481G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000027415
Gene: ENSMUSG00000006576
AA Change: D481G
| 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 |
possibly damaging
Transcript: ENSMUST00000124341
AA Change: D481G
PolyPhen 2
Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000116747
Gene: ENSMUSG00000006576
AA Change: D481G
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000119942
Gene: ENSMUSG00000006576
AA Change: D32G
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000119860
Gene: ENSMUSG00000006576
AA Change: D181G
| 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
|
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
98% (47/48) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars1 |
T |
C |
8: 111,767,284 (GRCm39) |
V130A |
probably benign |
Het |
| Acte1 |
C |
T |
7: 143,451,203 (GRCm39) |
|
probably null |
Het |
| Adamts12 |
A |
C |
15: 11,331,877 (GRCm39) |
K1465T |
probably benign |
Het |
| Adamtsl1 |
T |
C |
4: 86,166,306 (GRCm39) |
V223A |
|
Het |
| Adamtsl3 |
T |
A |
7: 82,251,487 (GRCm39) |
I1494N |
possibly damaging |
Het |
| Ank3 |
T |
C |
10: 69,826,148 (GRCm39) |
Y1606H |
|
Het |
| Arhgap32 |
A |
G |
9: 32,093,150 (GRCm39) |
I168V |
probably benign |
Het |
| Atxn7l2 |
G |
A |
3: 108,110,617 (GRCm39) |
R675C |
probably damaging |
Het |
| Brcc3dc |
A |
G |
10: 108,535,520 (GRCm39) |
M145T |
probably damaging |
Het |
| Bst2 |
A |
T |
8: 71,989,990 (GRCm39) |
W28R |
probably damaging |
Het |
| Cadps |
T |
A |
14: 12,488,975 (GRCm38) |
T861S |
probably benign |
Het |
| Ceacam11 |
A |
G |
7: 17,709,243 (GRCm39) |
Y147C |
probably benign |
Het |
| Clasp2 |
T |
A |
9: 113,740,588 (GRCm39) |
N1187K |
probably damaging |
Het |
| Dcaf7 |
T |
C |
11: 105,937,604 (GRCm39) |
W76R |
probably damaging |
Het |
| Ephb1 |
G |
A |
9: 101,918,222 (GRCm39) |
T429I |
probably damaging |
Het |
| Flg |
A |
T |
3: 93,197,734 (GRCm39) |
Q21L |
unknown |
Het |
| Flrt2 |
T |
C |
12: 95,747,333 (GRCm39) |
V557A |
probably benign |
Het |
| Gdpgp1 |
T |
C |
7: 79,888,581 (GRCm39) |
V204A |
probably damaging |
Het |
| Gmcl1 |
G |
T |
6: 86,698,408 (GRCm39) |
A163E |
probably damaging |
Het |
| Gpr137b |
T |
C |
13: 13,533,991 (GRCm39) |
Y355C |
|
Het |
| Jph2 |
T |
C |
2: 163,181,206 (GRCm39) |
K653E |
probably benign |
Het |
| Kmt2c |
T |
C |
5: 25,486,382 (GRCm39) |
S4724G |
probably damaging |
Het |
| Llgl2 |
T |
C |
11: 115,741,619 (GRCm39) |
V583A |
possibly damaging |
Het |
| Met |
T |
C |
6: 17,562,236 (GRCm39) |
V1199A |
probably damaging |
Het |
| Mmp25 |
A |
G |
17: 23,863,768 (GRCm39) |
W21R |
probably benign |
Het |
| Nsun4 |
A |
T |
4: 115,909,040 (GRCm39) |
C507S |
probably benign |
Het |
| Or1j19 |
T |
A |
2: 36,676,618 (GRCm39) |
M27K |
probably benign |
Het |
| Pard6g |
T |
C |
18: 80,160,658 (GRCm39) |
V257A |
possibly damaging |
Het |
| Pcdh1 |
A |
G |
18: 38,332,049 (GRCm39) |
V457A |
probably damaging |
Het |
| Pcnx1 |
C |
T |
12: 81,965,593 (GRCm39) |
R59* |
probably null |
Het |
| Pdzd2 |
G |
A |
15: 12,373,592 (GRCm39) |
S2181L |
probably benign |
Het |
| Plpp6 |
T |
A |
19: 28,941,891 (GRCm39) |
M164K |
possibly damaging |
Het |
| Rhobtb2 |
C |
A |
14: 70,038,080 (GRCm39) |
R60L |
probably damaging |
Het |
| Rsph10b |
A |
C |
5: 143,922,348 (GRCm39) |
I845L |
probably benign |
Het |
| Sdf4 |
C |
T |
4: 156,094,295 (GRCm39) |
A325V |
probably damaging |
Het |
| Smo |
A |
G |
6: 29,755,522 (GRCm39) |
Y398C |
probably damaging |
Het |
| Sox18 |
A |
G |
2: 181,313,293 (GRCm39) |
Y8H |
possibly damaging |
Het |
| Sycp1 |
A |
T |
3: 102,758,918 (GRCm39) |
S780T |
probably benign |
Het |
| Tdg |
T |
A |
10: 82,480,353 (GRCm39) |
V239E |
probably damaging |
Het |
| Tenm2 |
T |
C |
11: 35,899,137 (GRCm39) |
T2675A |
probably benign |
Het |
| Thrap3 |
C |
A |
4: 126,080,273 (GRCm39) |
R31L |
unknown |
Het |
| Tinagl1 |
T |
A |
4: 130,063,123 (GRCm39) |
I149F |
probably damaging |
Het |
| Tnc |
A |
G |
4: 63,927,000 (GRCm39) |
V842A |
probably benign |
Het |
| Tpm3-rs7 |
A |
G |
14: 113,552,772 (GRCm39) |
D222G |
probably benign |
Het |
| Ube4a |
T |
C |
9: 44,846,781 (GRCm39) |
I773V |
probably benign |
Het |
| Vmn1r229 |
T |
C |
17: 21,035,268 (GRCm39) |
V171A |
probably benign |
Het |
| Zc3hav1 |
T |
C |
6: 38,306,114 (GRCm39) |
E646G |
probably damaging |
Het |
| Zfp341 |
A |
T |
2: 154,469,820 (GRCm39) |
M168L |
probably benign |
Het |
| Zfp874a |
A |
C |
13: 67,597,563 (GRCm39) |
D13E |
possibly damaging |
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 |
|
|
R0507:Slc4a3
|
UTSW |
1 |
75,532,725 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- ATGTACCTCGCCAATGTACC -3'
(R):5'- CAATGGGTCAGGCACATCAC -3'
Sequencing Primer
(F):5'- CGCCAATGTACCTTGCCC -3'
(R):5'- GGTCAGGCACATCACCACAC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation