Incidental Mutation 'R8759:Slc4a3'
| ID |
671764 |
| 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 |
068718-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.094)
|
| Stock # |
R8759 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
75522688-75536075 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 75531282 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 825
(I825T)
|
| 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: I825T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000116747
Gene: ENSMUSG00000006576
AA Change: I825T
| 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: 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.2%
|
| 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 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310022B05Rik |
T |
C |
8: 125,365,916 (GRCm39) |
T276A |
probably benign |
Het |
| 6030468B19Rik |
T |
C |
11: 117,697,112 (GRCm39) |
V237A |
probably benign |
Het |
| Abca15 |
G |
A |
7: 120,006,631 (GRCm39) |
V1632M |
probably damaging |
Het |
| Adamts18 |
G |
A |
8: 114,433,624 (GRCm39) |
P1037S |
probably damaging |
Het |
| Apol7e |
T |
C |
15: 77,602,065 (GRCm39) |
V221A |
probably benign |
Het |
| Aqp4 |
T |
G |
18: 15,533,048 (GRCm39) |
H15P |
probably benign |
Het |
| Atp6v0d2 |
T |
A |
4: 19,910,649 (GRCm39) |
R80S |
probably benign |
Het |
| Cdh15 |
A |
G |
8: 123,587,628 (GRCm39) |
D184G |
probably damaging |
Het |
| Cers3 |
G |
A |
7: 66,435,850 (GRCm39) |
V270M |
probably damaging |
Het |
| Ces3a |
A |
G |
8: 105,784,129 (GRCm39) |
H443R |
probably damaging |
Het |
| Cntn1 |
T |
G |
15: 92,153,801 (GRCm39) |
F485V |
possibly damaging |
Het |
| Cog6 |
A |
G |
3: 52,897,465 (GRCm39) |
L536P |
probably damaging |
Het |
| Copa |
A |
G |
1: 171,947,081 (GRCm39) |
I1068M |
probably benign |
Het |
| Ddx50 |
T |
C |
10: 62,452,021 (GRCm39) |
D734G |
unknown |
Het |
| Dgkz |
T |
C |
2: 91,775,922 (GRCm39) |
T114A |
probably benign |
Het |
| Dock2 |
A |
T |
11: 34,586,067 (GRCm39) |
D538E |
probably benign |
Het |
| Drg1 |
T |
C |
11: 3,204,633 (GRCm39) |
S198G |
probably benign |
Het |
| Epn3 |
C |
A |
11: 94,386,848 (GRCm39) |
G174V |
possibly damaging |
Het |
| Ficd |
G |
T |
5: 113,876,575 (GRCm39) |
R250L |
probably damaging |
Het |
| Fmo2 |
A |
G |
1: 162,708,005 (GRCm39) |
S377P |
probably benign |
Het |
| Gm17027 |
T |
C |
14: 41,981,251 (GRCm39) |
I202V |
|
Het |
| H6pd |
C |
T |
4: 150,066,758 (GRCm39) |
V551I |
probably benign |
Het |
| Ighg1 |
A |
T |
12: 113,292,657 (GRCm39) |
L304* |
probably null |
Het |
| Itga8 |
T |
C |
2: 12,266,940 (GRCm39) |
D165G |
probably damaging |
Het |
| Lipt2 |
GGCGCCCGCGCGCG |
GGCG |
7: 99,808,888 (GRCm39) |
|
probably null |
Het |
| Lrrc37a |
A |
G |
11: 103,348,766 (GRCm39) |
V2643A |
unknown |
Het |
| Lyz3 |
T |
A |
10: 117,070,340 (GRCm39) |
I146F |
probably damaging |
Het |
| Mast2 |
A |
T |
4: 116,292,757 (GRCm39) |
F71Y |
possibly damaging |
Het |
| Mkrn1 |
C |
A |
6: 39,376,344 (GRCm39) |
E421* |
probably null |
Het |
| Myo3a |
G |
T |
2: 22,448,319 (GRCm39) |
K969N |
possibly damaging |
Het |
| Nr1d1 |
G |
C |
11: 98,660,073 (GRCm39) |
R484G |
probably damaging |
Het |
| Nrg1 |
C |
A |
8: 32,308,103 (GRCm39) |
A686S |
probably damaging |
Het |
| Or52e8 |
T |
C |
7: 104,624,325 (GRCm39) |
N293S |
probably damaging |
Het |
| Plxna4 |
T |
A |
6: 32,169,276 (GRCm39) |
D1307V |
probably damaging |
Het |
| Ppihl |
A |
T |
5: 44,070,999 (GRCm39) |
N119I |
probably benign |
Het |
| Ppp1r13l |
G |
T |
7: 19,103,981 (GRCm39) |
G154V |
probably damaging |
Het |
| Psmc5 |
A |
G |
11: 106,153,687 (GRCm39) |
D382G |
probably benign |
Het |
| Ptch2 |
T |
C |
4: 116,967,630 (GRCm39) |
L766P |
probably damaging |
Het |
| Rev1 |
A |
C |
1: 38,098,353 (GRCm39) |
L730R |
probably damaging |
Het |
| Rin3 |
G |
A |
12: 102,339,861 (GRCm39) |
V684I |
probably damaging |
Het |
| Secisbp2 |
G |
A |
13: 51,833,869 (GRCm39) |
V670I |
possibly damaging |
Het |
| Sema6d |
G |
A |
2: 124,497,134 (GRCm39) |
C136Y |
probably damaging |
Het |
| Shprh |
T |
G |
10: 11,032,908 (GRCm39) |
V298G |
possibly damaging |
Het |
| Slc37a4 |
C |
T |
9: 44,313,632 (GRCm39) |
T386I |
probably benign |
Het |
| Spta1 |
C |
T |
1: 174,040,940 (GRCm39) |
L1247F |
probably damaging |
Het |
| Tigar |
A |
T |
6: 127,068,220 (GRCm39) |
I66K |
probably benign |
Het |
| Tln2 |
T |
C |
9: 67,274,500 (GRCm39) |
Y376C |
probably damaging |
Het |
| Tmem199 |
T |
A |
11: 78,398,633 (GRCm39) |
|
probably benign |
Het |
| Tnc |
G |
A |
4: 63,924,501 (GRCm39) |
R1066C |
possibly damaging |
Het |
| Ubqlnl |
T |
A |
7: 103,799,206 (GRCm39) |
H97L |
probably damaging |
Het |
| Vmn1r13 |
A |
G |
6: 57,187,524 (GRCm39) |
T228A |
probably damaging |
Het |
| Xab2 |
T |
C |
8: 3,661,672 (GRCm39) |
T594A |
probably benign |
Het |
| Zc3h18 |
A |
G |
8: 123,138,124 (GRCm39) |
E687G |
unknown |
Het |
| Zfp831 |
A |
G |
2: 174,487,874 (GRCm39) |
T850A |
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 |
|
|
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 |
|
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 |
|
|
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'- AAATCTCAGGGAGGATGGCC -3'
(R):5'- ACTCTCCACAGGCAGATGAC -3'
Sequencing Primer
(F):5'- AGGATGGCCCACCTGTAG -3'
(R):5'- AGCCCTGATCCCTGACATC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation