Incidental Mutation 'R7308:Slc4a3'
| ID |
567361 |
| 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 |
045323-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.096)
|
| Stock # |
R7308 (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 A
at 75534006 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 1118
(S1118T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116747
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027415]
[ENSMUST00000124341]
|
| 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 benign
Transcript: ENSMUST00000124341
AA Change: S1118T
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000116747
Gene: ENSMUSG00000006576
AA Change: S1118T
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
T |
C |
7: 120,022,993 (GRCm39) |
I43T |
probably benign |
Het |
| Ankar |
G |
A |
1: 72,690,953 (GRCm39) |
Q1175* |
probably null |
Het |
| Aqr |
G |
A |
2: 113,934,543 (GRCm39) |
A1366V |
possibly damaging |
Het |
| Arhgap45 |
G |
A |
10: 79,862,392 (GRCm39) |
|
probably null |
Het |
| Atf7ip |
T |
A |
6: 136,542,087 (GRCm39) |
M607K |
probably benign |
Het |
| BC028528 |
CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT |
CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT |
3: 95,795,448 (GRCm39) |
|
probably benign |
Het |
| BC028528 |
ACTGGTTCTGTGGTC |
ACTGGTTCTGTGGTCCCTGGTTCTGTGGTC |
3: 95,795,481 (GRCm39) |
|
probably benign |
Het |
| BC028528 |
TCACTGGTTCTGTGGTCACTGGTTCTGTGG |
TCACTGGTTCTGTGGCCACTGGTTCTGTGGTCACTGGTTCTGTGG |
3: 95,795,464 (GRCm39) |
|
probably benign |
Het |
| Bcar3 |
T |
A |
3: 122,302,142 (GRCm39) |
V279E |
probably benign |
Het |
| Cd96 |
C |
T |
16: 45,892,097 (GRCm39) |
|
probably null |
Het |
| Cdca2 |
G |
A |
14: 67,932,440 (GRCm39) |
P488S |
probably benign |
Het |
| Cfhr4 |
A |
G |
1: 139,682,041 (GRCm39) |
V185A |
possibly damaging |
Het |
| Col4a2 |
T |
G |
8: 11,456,856 (GRCm39) |
|
probably null |
Het |
| Cyp4a12a |
A |
G |
4: 115,184,955 (GRCm39) |
R379G |
possibly damaging |
Het |
| Defb34 |
A |
G |
8: 19,176,395 (GRCm39) |
S29G |
probably benign |
Het |
| Dnah11 |
A |
G |
12: 117,959,010 (GRCm39) |
S2958P |
probably damaging |
Het |
| Dync1h1 |
A |
G |
12: 110,631,596 (GRCm39) |
D4431G |
possibly damaging |
Het |
| Egfem1 |
A |
T |
3: 29,206,015 (GRCm39) |
H84L |
probably benign |
Het |
| Enah |
A |
T |
1: 181,733,950 (GRCm39) |
|
probably null |
Het |
| Fam178b |
G |
T |
1: 36,698,488 (GRCm39) |
Q78K |
probably benign |
Het |
| Glb1 |
A |
G |
9: 114,302,931 (GRCm39) |
N589S |
probably damaging |
Het |
| Gm1527 |
C |
T |
3: 28,956,429 (GRCm39) |
H132Y |
probably benign |
Het |
| Gm5799 |
A |
G |
14: 43,781,164 (GRCm39) |
R22G |
possibly damaging |
Het |
| Grip2 |
T |
C |
6: 91,755,669 (GRCm39) |
D617G |
possibly damaging |
Het |
| Hax1 |
A |
T |
3: 89,905,873 (GRCm39) |
D5E |
possibly damaging |
Het |
| Hic1 |
A |
G |
11: 75,057,977 (GRCm39) |
L304P |
probably damaging |
Het |
| Hmox1 |
T |
A |
8: 75,823,647 (GRCm39) |
I105N |
probably damaging |
Het |
| Hormad1 |
T |
C |
3: 95,469,866 (GRCm39) |
S38P |
probably damaging |
Het |
| Hspa4 |
A |
G |
11: 53,157,930 (GRCm39) |
S558P |
possibly damaging |
Het |
| Kcnf1 |
T |
A |
12: 17,224,730 (GRCm39) |
H497L |
probably benign |
Het |
| Kcnma1 |
C |
T |
14: 23,381,003 (GRCm39) |
D1022N |
probably damaging |
Het |
| Kcnt1 |
T |
C |
2: 25,790,475 (GRCm39) |
F479S |
possibly damaging |
Het |
| Krba1 |
T |
C |
6: 48,383,273 (GRCm39) |
V203A |
probably benign |
Het |
| Lct |
G |
T |
1: 128,246,824 (GRCm39) |
P233Q |
probably benign |
Het |
| Ly75 |
T |
C |
2: 60,164,859 (GRCm39) |
D773G |
probably benign |
Het |
| Malt1 |
T |
C |
18: 65,582,680 (GRCm39) |
|
probably null |
Het |
| Man1a2 |
A |
T |
3: 100,527,421 (GRCm39) |
L333Q |
probably damaging |
Het |
| Mtus1 |
T |
C |
8: 41,535,965 (GRCm39) |
T584A |
probably benign |
Het |
| Myof |
A |
T |
19: 37,899,359 (GRCm39) |
S1800R |
probably damaging |
Het |
| Nbea |
A |
C |
3: 55,998,452 (GRCm39) |
C118W |
probably damaging |
Het |
| Nsd3 |
A |
T |
8: 26,130,740 (GRCm39) |
D35V |
probably damaging |
Het |
| Ntaq1 |
T |
C |
15: 58,016,006 (GRCm39) |
V85A |
possibly damaging |
Het |
| Or11g24 |
G |
A |
14: 50,662,722 (GRCm39) |
V249I |
possibly damaging |
Het |
| Or2y1c |
G |
A |
11: 49,360,754 (GRCm39) |
|
probably benign |
Het |
| Pcnx3 |
C |
T |
19: 5,736,175 (GRCm39) |
R217H |
possibly damaging |
Het |
| Pcsk4 |
G |
A |
10: 80,159,007 (GRCm39) |
P462L |
probably benign |
Het |
| Pdia5 |
T |
G |
16: 35,276,879 (GRCm39) |
K96N |
probably damaging |
Het |
| Pik3c2a |
T |
C |
7: 115,973,074 (GRCm39) |
Y707C |
probably damaging |
Het |
| Ppig |
A |
T |
2: 69,579,806 (GRCm39) |
N447Y |
unknown |
Het |
| Ppp1r9b |
T |
C |
11: 94,895,397 (GRCm39) |
L695P |
possibly damaging |
Het |
| Proser1 |
C |
T |
3: 53,386,125 (GRCm39) |
A669V |
probably benign |
Het |
| Rdx |
A |
T |
9: 51,980,170 (GRCm39) |
K254N |
probably damaging |
Het |
| Slc35f2 |
T |
C |
9: 53,705,294 (GRCm39) |
S95P |
probably benign |
Het |
| Slf1 |
G |
A |
13: 77,199,287 (GRCm39) |
P698L |
probably benign |
Het |
| Sptbn2 |
A |
G |
19: 4,801,602 (GRCm39) |
E2338G |
probably benign |
Het |
| Taok3 |
T |
A |
5: 117,338,216 (GRCm39) |
Y91* |
probably null |
Het |
| Tbc1d31 |
C |
T |
15: 57,816,212 (GRCm39) |
L649F |
probably damaging |
Het |
| Tdpoz8 |
A |
G |
3: 92,981,872 (GRCm39) |
T223A |
probably benign |
Het |
| Tmem132b |
A |
T |
5: 125,864,710 (GRCm39) |
I939F |
possibly damaging |
Het |
| Trav17 |
T |
A |
14: 54,044,436 (GRCm39) |
Y69N |
probably benign |
Het |
| Trmt13 |
T |
C |
3: 116,388,388 (GRCm39) |
D16G |
probably benign |
Het |
| Upf2 |
T |
A |
2: 5,978,329 (GRCm39) |
Y398N |
unknown |
Het |
| Vmn1r238 |
T |
C |
18: 3,122,875 (GRCm39) |
T180A |
probably benign |
Het |
| Zfp738 |
A |
T |
13: 67,817,672 (GRCm39) |
I773N |
probably benign |
Het |
| Zscan4e |
A |
T |
7: 11,041,080 (GRCm39) |
M264K |
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 |
|
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'- GGCCCAGATTGCTCAGATAAGC -3'
(R):5'- TTACACCATGGCCATTCAGG -3'
Sequencing Primer
(F):5'- TCAGATAAGCAAATCCCTTACCAGG -3'
(R):5'- TCCTTGGGGAACATGGCTCTC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation