Incidental Mutation 'R5075:Slc4a3'
| ID |
386907 |
| 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 |
042664-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.094)
|
| Stock # |
R5075 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
75522688-75536075 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 75534012 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 1120
(I1120F)
|
| 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 damaging
Transcript: ENSMUST00000124341
AA Change: I1120F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000116747
Gene: ENSMUSG00000006576
AA Change: I1120F
| 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 |
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 |
|
| Meta Mutation Damage Score |
0.5556 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.3%
|
| Validation Efficiency |
100% (57/57) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agl |
A |
G |
3: 116,587,456 (GRCm39) |
F33S |
probably damaging |
Het |
| Atf7ip |
A |
G |
6: 136,537,232 (GRCm39) |
D163G |
probably benign |
Het |
| Cep85 |
C |
A |
4: 133,859,678 (GRCm39) |
D662Y |
probably damaging |
Het |
| Cntn6 |
T |
A |
6: 104,809,991 (GRCm39) |
S558T |
probably damaging |
Het |
| Dnah8 |
T |
C |
17: 30,958,731 (GRCm39) |
|
probably null |
Het |
| Dnah8 |
T |
A |
17: 31,019,505 (GRCm39) |
N3859K |
probably damaging |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Dnajc21 |
G |
T |
15: 10,461,963 (GRCm39) |
T146K |
probably benign |
Het |
| Ep400 |
T |
C |
5: 110,833,351 (GRCm39) |
E1957G |
unknown |
Het |
| Esm1 |
A |
G |
13: 113,349,892 (GRCm39) |
Y104C |
probably damaging |
Het |
| Fkbp15 |
T |
C |
4: 62,239,266 (GRCm39) |
K613R |
probably damaging |
Het |
| Gm10722 |
A |
C |
9: 3,001,041 (GRCm39) |
Y39S |
probably benign |
Het |
| Gm5592 |
A |
G |
7: 40,808,387 (GRCm39) |
|
probably benign |
Het |
| Hdac4 |
A |
G |
1: 91,923,842 (GRCm39) |
S223P |
probably benign |
Het |
| Hypk |
A |
G |
2: 121,286,111 (GRCm39) |
|
probably benign |
Het |
| Kpna1 |
T |
A |
16: 35,829,722 (GRCm39) |
F70I |
probably damaging |
Het |
| Lrp2 |
A |
G |
2: 69,296,102 (GRCm39) |
Y3336H |
probably benign |
Het |
| Mier1 |
A |
G |
4: 102,996,670 (GRCm39) |
D99G |
probably benign |
Het |
| Muc4 |
T |
C |
16: 32,754,794 (GRCm38) |
|
probably benign |
Het |
| Nup160 |
A |
G |
2: 90,530,518 (GRCm39) |
E463G |
probably damaging |
Het |
| Or5b121 |
T |
A |
19: 13,507,637 (GRCm39) |
M244K |
probably benign |
Het |
| Peg3 |
A |
T |
7: 6,711,419 (GRCm39) |
C1268S |
probably damaging |
Het |
| Recql4 |
G |
A |
15: 76,593,744 (GRCm39) |
P122L |
probably damaging |
Het |
| Rex2 |
A |
T |
4: 147,142,151 (GRCm39) |
Q213L |
possibly damaging |
Het |
| Rnf25 |
A |
G |
1: 74,634,803 (GRCm39) |
V73A |
probably benign |
Het |
| Sacm1l |
A |
G |
9: 123,411,327 (GRCm39) |
D372G |
probably benign |
Het |
| Selplg |
T |
C |
5: 113,958,045 (GRCm39) |
D87G |
probably benign |
Het |
| Sgsh |
G |
A |
11: 119,237,594 (GRCm39) |
T340M |
probably benign |
Het |
| Snrnp40 |
T |
C |
4: 130,282,375 (GRCm39) |
Y311H |
probably benign |
Het |
| Spata31e2 |
T |
C |
1: 26,722,133 (GRCm39) |
K1016E |
probably damaging |
Het |
| Stard7 |
A |
T |
2: 127,111,879 (GRCm39) |
|
probably benign |
Het |
| Stat1 |
A |
T |
1: 52,161,871 (GRCm39) |
K40M |
possibly damaging |
Het |
| Sun1 |
T |
C |
5: 139,212,646 (GRCm39) |
|
probably null |
Het |
| Tet2 |
T |
A |
3: 133,192,667 (GRCm39) |
Q589L |
probably benign |
Het |
| Tmc7 |
A |
T |
7: 118,151,919 (GRCm39) |
|
probably null |
Het |
| Tmt1b |
A |
G |
10: 128,796,549 (GRCm39) |
F87L |
probably damaging |
Het |
| Unc79 |
A |
T |
12: 103,041,213 (GRCm39) |
I749F |
possibly damaging |
Het |
| Ust |
A |
G |
10: 8,393,988 (GRCm39) |
F59S |
probably damaging |
Het |
| Wdr81 |
A |
T |
11: 75,343,307 (GRCm39) |
D653E |
probably benign |
Het |
| Zfat |
A |
G |
15: 68,052,079 (GRCm39) |
S572P |
probably benign |
Het |
| Zmynd15 |
G |
C |
11: 70,352,946 (GRCm39) |
E143D |
probably damaging |
Het |
| Zzef1 |
A |
G |
11: 72,749,170 (GRCm39) |
E886G |
probably 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 |
|
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'- CAAGAAGGCCCAGATTGCTC -3'
(R):5'- TTGGGGAACATGGCTCTCTG -3'
Sequencing Primer
(F):5'- GGCCCAGATTGCTCAGATAAGC -3'
(R):5'- AACATGGCTCTCTGGGTCC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation