Incidental Mutation 'R0004:Slc4a3'
ID |
32366 |
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 |
038300-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.094)
|
Stock # |
R0004 (G1)
|
Quality Score |
144 |
Status
|
Validated
(trace)
|
Chromosome |
1 |
Chromosomal Location |
75522688-75536075 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
A to T
at 75533653 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
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
|
SMART Domains |
Protein: ENSMUSP00000116747 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 |
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 |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.1%
|
Validation Efficiency |
98% (63/64) |
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adal |
T |
C |
2: 120,982,966 (GRCm39) |
I86T |
probably damaging |
Het |
Aff3 |
T |
C |
1: 38,308,807 (GRCm39) |
D376G |
possibly damaging |
Het |
Akap11 |
A |
T |
14: 78,752,380 (GRCm39) |
H164Q |
possibly damaging |
Het |
Akap12 |
A |
T |
10: 4,303,220 (GRCm39) |
D10V |
probably damaging |
Het |
Arhgap32 |
T |
C |
9: 32,063,294 (GRCm39) |
V101A |
probably damaging |
Het |
Atm |
A |
T |
9: 53,364,828 (GRCm39) |
|
probably benign |
Het |
Ccdc18 |
A |
G |
5: 108,309,566 (GRCm39) |
D387G |
possibly damaging |
Het |
Ccdc38 |
A |
T |
10: 93,409,964 (GRCm39) |
Q261L |
probably damaging |
Het |
Cd180 |
T |
G |
13: 102,839,216 (GRCm39) |
V33G |
probably benign |
Het |
Cd207 |
G |
A |
6: 83,651,230 (GRCm39) |
Q242* |
probably null |
Het |
Cnp |
T |
C |
11: 100,467,633 (GRCm39) |
F192S |
probably damaging |
Het |
Colec10 |
G |
T |
15: 54,274,271 (GRCm39) |
R33L |
possibly damaging |
Het |
Csn1s1 |
A |
T |
5: 87,819,390 (GRCm39) |
M16L |
probably benign |
Het |
Dnah10 |
A |
T |
5: 124,803,966 (GRCm39) |
M98L |
probably benign |
Het |
Dnah17 |
T |
C |
11: 117,950,918 (GRCm39) |
I2902V |
possibly damaging |
Het |
Dtnb |
A |
G |
12: 3,646,635 (GRCm39) |
|
probably benign |
Het |
Epha5 |
T |
C |
5: 84,479,701 (GRCm39) |
Y101C |
probably damaging |
Het |
Ephb2 |
T |
A |
4: 136,384,835 (GRCm39) |
M860L |
probably damaging |
Het |
Fbxw18 |
T |
C |
9: 109,530,381 (GRCm39) |
T77A |
probably damaging |
Het |
Fgfbp3 |
A |
G |
19: 36,896,082 (GRCm39) |
S179P |
possibly damaging |
Het |
Foxp2 |
A |
G |
6: 15,197,095 (GRCm39) |
T45A |
possibly damaging |
Het |
Gckr |
A |
T |
5: 31,454,933 (GRCm39) |
|
probably benign |
Het |
Glce |
T |
A |
9: 61,975,861 (GRCm39) |
Q213L |
probably damaging |
Het |
Gm1965 |
A |
C |
6: 89,123,469 (GRCm39) |
H84P |
unknown |
Het |
Hbegf |
A |
G |
18: 36,640,559 (GRCm39) |
V166A |
probably damaging |
Het |
Helb |
G |
T |
10: 119,944,886 (GRCm39) |
H217N |
probably damaging |
Het |
Ino80 |
G |
A |
2: 119,213,441 (GRCm39) |
R1249C |
probably damaging |
Het |
Kansl2 |
A |
G |
15: 98,418,257 (GRCm39) |
L392P |
probably damaging |
Het |
Klra1 |
A |
T |
6: 130,349,836 (GRCm39) |
Y201N |
probably damaging |
Het |
Klra3 |
A |
G |
6: 130,300,650 (GRCm39) |
S240P |
probably damaging |
Het |
Liph |
T |
A |
16: 21,802,944 (GRCm39) |
R42* |
probably null |
Het |
Lrp1 |
A |
T |
10: 127,377,694 (GRCm39) |
|
probably null |
Het |
Luc7l2 |
A |
T |
6: 38,566,169 (GRCm39) |
K52M |
probably damaging |
Het |
Mecom |
G |
A |
3: 30,034,060 (GRCm39) |
P215S |
probably damaging |
Het |
Myo1g |
T |
A |
11: 6,465,901 (GRCm39) |
T395S |
probably damaging |
Het |
Ndst4 |
T |
A |
3: 125,364,475 (GRCm39) |
M384K |
probably benign |
Het |
Ndufb2 |
C |
T |
6: 39,573,438 (GRCm39) |
T51I |
possibly damaging |
Het |
Nell1 |
C |
A |
7: 50,210,507 (GRCm39) |
|
probably benign |
Het |
Or51k1 |
A |
T |
7: 103,661,638 (GRCm39) |
N90K |
probably benign |
Het |
Oxr1 |
G |
A |
15: 41,683,936 (GRCm39) |
S434N |
possibly damaging |
Het |
Pcdhac2 |
T |
A |
18: 37,278,290 (GRCm39) |
S423R |
probably benign |
Het |
Pcdhb10 |
T |
A |
18: 37,545,012 (GRCm39) |
D29E |
probably benign |
Het |
Pde10a |
A |
G |
17: 9,200,408 (GRCm39) |
T1053A |
probably benign |
Het |
Pkdrej |
T |
A |
15: 85,702,384 (GRCm39) |
H1184L |
probably damaging |
Het |
Prkaa2 |
C |
T |
4: 104,904,288 (GRCm39) |
R263Q |
probably null |
Het |
Prmt9 |
A |
G |
8: 78,282,411 (GRCm39) |
I103V |
possibly damaging |
Het |
Rbm15b |
T |
C |
9: 106,762,135 (GRCm39) |
T678A |
probably benign |
Het |
Ryr2 |
T |
C |
13: 11,680,805 (GRCm39) |
Y3180C |
probably benign |
Het |
Scaf1 |
T |
C |
7: 44,657,094 (GRCm39) |
|
probably benign |
Het |
Scn7a |
T |
A |
2: 66,518,139 (GRCm39) |
N1024I |
possibly damaging |
Het |
Sec23b |
T |
C |
2: 144,406,482 (GRCm39) |
|
probably benign |
Het |
Sf1 |
C |
A |
19: 6,424,221 (GRCm39) |
P417Q |
probably damaging |
Het |
Stk32a |
T |
C |
18: 43,438,121 (GRCm39) |
W207R |
probably damaging |
Het |
Syne1 |
A |
T |
10: 5,393,132 (GRCm39) |
|
probably benign |
Het |
Tecta |
A |
T |
9: 42,256,774 (GRCm39) |
V1634E |
possibly damaging |
Het |
Tenm2 |
A |
G |
11: 35,914,184 (GRCm39) |
F2450S |
probably damaging |
Het |
Tgfb1 |
T |
C |
7: 25,391,791 (GRCm39) |
|
probably benign |
Het |
Tpgs2 |
A |
G |
18: 25,291,295 (GRCm39) |
|
probably benign |
Het |
Washc5 |
A |
G |
15: 59,239,316 (GRCm39) |
M149T |
probably damaging |
Het |
Wrn |
A |
T |
8: 33,807,588 (GRCm39) |
V290D |
probably damaging |
Het |
Zbtb41 |
A |
G |
1: 139,370,626 (GRCm39) |
T688A |
possibly damaging |
Het |
Zfp560 |
C |
T |
9: 20,259,263 (GRCm39) |
C533Y |
probably damaging |
Het |
Zfp791 |
G |
A |
8: 85,837,495 (GRCm39) |
A123V |
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 |
|
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 |
|
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'- TCATTGTCAGCCAGAAGGCACG -3'
(R):5'- GCCCATGTACAGGAAAATCCCGAAG -3'
Sequencing Primer
(F):5'- CACGGAGGCTACTCAAGG -3'
(R):5'- TGAGCAATCTGGGCCTTC -3'
|
Posted On |
2013-05-09 |