Incidental Mutation 'R6272:Slc4a3'
| ID |
507373 |
| 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 |
044442-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.094)
|
| Stock # |
R6272 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
75522688-75536075 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 75531341 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116747
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027415]
[ENSMUST00000124341]
[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 null
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 null
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 |
noncoding transcript
Transcript: ENSMUST00000142257
|
| 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 |
|
| Meta Mutation Damage Score |
0.9488 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.3%
|
| Validation Efficiency |
98% (55/56) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgra3 |
A |
T |
5: 50,166,791 (GRCm39) |
M187K |
possibly damaging |
Het |
| Adgrg3 |
A |
G |
8: 95,762,889 (GRCm39) |
I189V |
noncoding transcript |
Het |
| Ampd1 |
A |
G |
3: 102,992,699 (GRCm39) |
K147R |
possibly damaging |
Het |
| Apbb2 |
T |
C |
5: 66,468,415 (GRCm39) |
T561A |
probably damaging |
Het |
| Arfgef3 |
A |
T |
10: 18,522,711 (GRCm39) |
D438E |
probably benign |
Het |
| Atxn1 |
T |
A |
13: 45,721,238 (GRCm39) |
Q219L |
possibly damaging |
Het |
| AW551984 |
A |
T |
9: 39,509,333 (GRCm39) |
D269E |
probably benign |
Het |
| Cryab |
A |
G |
9: 50,665,825 (GRCm39) |
K72R |
possibly damaging |
Het |
| Dbn1 |
G |
A |
13: 55,622,917 (GRCm39) |
A522V |
probably benign |
Het |
| Dip2a |
A |
T |
10: 76,122,241 (GRCm39) |
*158R |
probably null |
Het |
| Edrf1 |
C |
T |
7: 133,239,537 (GRCm39) |
|
probably benign |
Het |
| Ern2 |
A |
T |
7: 121,775,869 (GRCm39) |
D408E |
probably benign |
Het |
| F830016B08Rik |
T |
C |
18: 60,433,150 (GRCm39) |
S78P |
probably damaging |
Het |
| Fah |
C |
A |
7: 84,244,753 (GRCm39) |
G137C |
probably damaging |
Het |
| Foxd3 |
A |
G |
4: 99,544,977 (GRCm39) |
D39G |
probably damaging |
Het |
| Gprin3 |
G |
A |
6: 59,330,316 (GRCm39) |
Q664* |
probably null |
Het |
| H2-Ob |
T |
C |
17: 34,461,618 (GRCm39) |
I119T |
probably benign |
Het |
| H3c6 |
A |
T |
13: 23,746,400 (GRCm39) |
V47E |
probably damaging |
Het |
| Hmgcll1 |
G |
A |
9: 76,037,627 (GRCm39) |
G174R |
probably damaging |
Het |
| Kbtbd11 |
T |
A |
8: 15,079,118 (GRCm39) |
C572* |
probably null |
Het |
| Kynu |
A |
T |
2: 43,525,001 (GRCm39) |
N315Y |
probably benign |
Het |
| Map1lc3b |
G |
A |
8: 122,323,429 (GRCm39) |
E100K |
probably benign |
Het |
| Matn2 |
T |
A |
15: 34,355,753 (GRCm39) |
Q33L |
possibly damaging |
Het |
| Mettl8 |
T |
C |
2: 70,806,419 (GRCm39) |
|
probably null |
Het |
| Neto1 |
A |
T |
18: 86,512,940 (GRCm39) |
N312Y |
probably damaging |
Het |
| Nhsl1 |
A |
G |
10: 18,400,253 (GRCm39) |
D493G |
probably benign |
Het |
| Nup210l |
A |
G |
3: 90,077,331 (GRCm39) |
E889G |
possibly damaging |
Het |
| Or13l2 |
A |
G |
3: 97,318,207 (GRCm39) |
F97L |
probably benign |
Het |
| Or14c42-ps1 |
A |
G |
7: 86,211,081 (GRCm39) |
Y47C |
unknown |
Het |
| Or2y13 |
C |
A |
11: 49,414,953 (GRCm39) |
S134R |
possibly damaging |
Het |
| Or5ac25 |
A |
C |
16: 59,181,948 (GRCm39) |
M211R |
possibly damaging |
Het |
| Or5w20 |
G |
A |
2: 87,727,001 (GRCm39) |
V153I |
probably benign |
Het |
| Or6k2 |
C |
T |
1: 173,986,741 (GRCm39) |
T134I |
probably benign |
Het |
| Or8g4 |
A |
T |
9: 39,661,816 (GRCm39) |
M45L |
probably benign |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Phc2 |
A |
G |
4: 128,603,440 (GRCm39) |
Y190C |
probably damaging |
Het |
| Platr25 |
T |
C |
13: 62,820,811 (GRCm39) |
T347A |
possibly damaging |
Het |
| Plec |
T |
C |
15: 76,059,053 (GRCm39) |
E3655G |
probably damaging |
Het |
| Plekhg3 |
A |
T |
12: 76,623,619 (GRCm39) |
Q954L |
probably benign |
Het |
| Pnpla1 |
G |
A |
17: 29,100,342 (GRCm39) |
G403E |
probably benign |
Het |
| Prdm4 |
G |
A |
10: 85,743,694 (GRCm39) |
T187I |
possibly damaging |
Het |
| Prg4 |
T |
C |
1: 150,330,517 (GRCm39) |
|
probably benign |
Het |
| Prpf18 |
G |
A |
2: 4,638,258 (GRCm39) |
R312W |
probably damaging |
Het |
| Rnf213 |
T |
A |
11: 119,305,374 (GRCm39) |
V535D |
probably damaging |
Het |
| Rtcb |
A |
T |
10: 85,791,638 (GRCm39) |
N39K |
probably damaging |
Het |
| Szt2 |
A |
C |
4: 118,231,487 (GRCm39) |
|
probably benign |
Het |
| Tasor2 |
C |
T |
13: 3,631,891 (GRCm39) |
R870H |
possibly damaging |
Het |
| Tfap2e |
A |
T |
4: 126,615,657 (GRCm39) |
V259D |
probably damaging |
Het |
| Trav19 |
A |
G |
14: 54,083,255 (GRCm39) |
D110G |
probably damaging |
Het |
| Ttc17 |
A |
C |
2: 94,189,100 (GRCm39) |
C749W |
probably damaging |
Het |
| Ttc8 |
A |
G |
12: 98,948,753 (GRCm39) |
K490E |
possibly damaging |
Het |
| Ube4b |
A |
G |
4: 149,471,590 (GRCm39) |
S99P |
probably damaging |
Het |
| Ubqln3 |
C |
T |
7: 103,791,385 (GRCm39) |
R235H |
probably damaging |
Het |
| Vmn2r61 |
A |
T |
7: 41,949,242 (GRCm39) |
D554V |
probably damaging |
Het |
| Vmn2r70 |
A |
T |
7: 85,208,194 (GRCm39) |
V761E |
probably damaging |
Het |
| Vmn2r97 |
T |
C |
17: 19,167,861 (GRCm39) |
I705T |
possibly damaging |
Het |
| Wwox |
G |
A |
8: 115,215,692 (GRCm39) |
C155Y |
probably damaging |
Het |
| Zfp451 |
T |
C |
1: 33,842,325 (GRCm39) |
|
probably benign |
Het |
| Zfp582 |
C |
T |
7: 6,356,844 (GRCm39) |
P219L |
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 |
|
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 |
|
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'- TCTAGTTCTGCCGAGCTCAG -3'
(R):5'- TCACTCTCCACAGGCAGATG -3'
Sequencing Primer
(F):5'- TCAGGACCTGGAGTACCTCAC -3'
(R):5'- TCTCCACAGGCAGATGACAAAC -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation