Incidental Mutation 'R7968:Slc4a3'
| ID |
650445 |
| 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 |
046011-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.094)
|
| Stock # |
R7968 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
75522688-75536075 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 75528007 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 419
(T419A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116747
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027415]
[ENSMUST00000124341]
[ENSMUST00000138814]
[ENSMUST00000150142]
[ENSMUST00000154101]
|
| AlphaFold |
P16283 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027415
AA Change: T419A
PolyPhen 2
Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000027415
Gene: ENSMUSG00000006576
AA Change: T419A
| 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: T419A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000116747
Gene: ENSMUSG00000006576
AA Change: T419A
| 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: ENSMUST00000138814
|
| SMART Domains |
Protein: ENSMUSP00000122749
Gene: ENSMUSG00000006576
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
74 |
83 |
N/A |
INTRINSIC |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000119860
Gene: ENSMUSG00000006576
AA Change: T119A
| 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: ENSMUST00000150142
|
| SMART Domains |
Protein: ENSMUSP00000120078
Gene: ENSMUSG00000006576
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
74 |
83 |
N/A |
INTRINSIC |
|
low complexity region
|
88 |
100 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154101
AA Change: T222A
PolyPhen 2
Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000116488
Gene: ENSMUSG00000006576
AA Change: T222A
| 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: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (47/47) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930590J08Rik |
A |
G |
6: 91,922,441 (GRCm39) |
T35A |
|
Het |
| Adamts16 |
A |
C |
13: 70,886,701 (GRCm39) |
S1030A |
probably benign |
Het |
| Adgrv1 |
A |
T |
13: 81,588,344 (GRCm39) |
V4414E |
possibly damaging |
Het |
| Aff4 |
C |
T |
11: 53,300,175 (GRCm39) |
T1026I |
probably damaging |
Het |
| Arfgef1 |
T |
C |
1: 10,243,145 (GRCm39) |
Y1065C |
probably damaging |
Het |
| Arhgef3 |
G |
T |
14: 27,108,070 (GRCm39) |
D192Y |
probably damaging |
Het |
| Arhgef3 |
G |
A |
14: 27,116,062 (GRCm39) |
R268Q |
probably damaging |
Het |
| Atp6v0e |
T |
A |
17: 26,913,885 (GRCm39) |
|
probably null |
Het |
| B3galt9 |
A |
G |
2: 34,728,257 (GRCm39) |
N19D |
probably damaging |
Het |
| Cenpc1 |
A |
G |
5: 86,181,551 (GRCm39) |
Y605H |
probably benign |
Het |
| Cftr |
T |
C |
6: 18,226,048 (GRCm39) |
V332A |
probably benign |
Het |
| Csmd2 |
A |
G |
4: 128,091,118 (GRCm39) |
H219R |
|
Het |
| Csnk1g3 |
C |
T |
18: 54,028,726 (GRCm39) |
|
probably benign |
Het |
| Cyp4f17 |
T |
C |
17: 32,743,116 (GRCm39) |
V263A |
possibly damaging |
Het |
| Dao |
AGG |
AG |
5: 114,153,270 (GRCm39) |
|
probably benign |
Het |
| Entrep1 |
G |
T |
19: 23,962,091 (GRCm39) |
T304K |
probably damaging |
Het |
| Evl |
C |
T |
12: 108,647,783 (GRCm39) |
R295* |
probably null |
Het |
| Gstm4 |
A |
T |
3: 107,951,677 (GRCm39) |
M35K |
probably damaging |
Het |
| Kcna2 |
A |
G |
3: 107,012,460 (GRCm39) |
Y347C |
possibly damaging |
Het |
| Kcnh7 |
G |
A |
2: 62,566,444 (GRCm39) |
T829M |
probably damaging |
Het |
| Kcnu1 |
T |
C |
8: 26,400,898 (GRCm39) |
V682A |
probably benign |
Het |
| Kctd17 |
CAGCTGGAGGAGC |
CAGC |
15: 78,321,113 (GRCm39) |
|
probably benign |
Het |
| Kera |
A |
G |
10: 97,444,821 (GRCm39) |
E60G |
possibly damaging |
Het |
| Letm2 |
C |
T |
8: 26,083,766 (GRCm39) |
G155D |
probably damaging |
Het |
| Lrfn4 |
G |
A |
19: 4,663,343 (GRCm39) |
A397V |
probably benign |
Het |
| Lrp4 |
A |
G |
2: 91,324,424 (GRCm39) |
Q1253R |
possibly damaging |
Het |
| Mob1a |
T |
A |
6: 83,315,287 (GRCm39) |
M145K |
probably benign |
Het |
| Nab1 |
A |
G |
1: 52,529,295 (GRCm39) |
C201R |
probably damaging |
Het |
| Nlrp9b |
A |
G |
7: 19,762,493 (GRCm39) |
E710G |
probably benign |
Het |
| Oas2 |
A |
G |
5: 120,876,437 (GRCm39) |
V502A |
probably benign |
Het |
| Or1e26 |
T |
C |
11: 73,480,154 (GRCm39) |
S137G |
probably benign |
Het |
| Or52d3 |
T |
A |
7: 104,229,595 (GRCm39) |
C247* |
probably null |
Het |
| Or52h7 |
A |
T |
7: 104,213,857 (GRCm39) |
H143L |
probably benign |
Het |
| Parg |
A |
T |
14: 31,936,327 (GRCm39) |
H494L |
possibly damaging |
Het |
| Phf20 |
T |
A |
2: 156,135,464 (GRCm39) |
D600E |
probably benign |
Het |
| Ppef2 |
G |
A |
5: 92,397,022 (GRCm39) |
R118C |
probably damaging |
Het |
| Ptprz1 |
T |
A |
6: 22,959,675 (GRCm39) |
N57K |
probably damaging |
Het |
| Rrbp1 |
A |
T |
2: 143,832,081 (GRCm39) |
S29T |
probably damaging |
Het |
| Sema3g |
C |
A |
14: 30,942,605 (GRCm39) |
R69S |
probably damaging |
Het |
| Slc12a4 |
G |
A |
8: 106,678,237 (GRCm39) |
R319W |
possibly damaging |
Het |
| Smc3 |
T |
C |
19: 53,611,649 (GRCm39) |
|
probably null |
Het |
| Sntg1 |
C |
T |
1: 8,535,760 (GRCm39) |
W288* |
probably null |
Het |
| Synpo2l |
G |
T |
14: 20,716,870 (GRCm39) |
|
probably null |
Het |
| Tap1 |
A |
G |
17: 34,413,886 (GRCm39) |
I634V |
probably damaging |
Het |
| Tmem25 |
A |
G |
9: 44,706,983 (GRCm39) |
S278P |
probably benign |
Het |
| Togaram2 |
T |
C |
17: 72,024,428 (GRCm39) |
S871P |
probably benign |
Het |
| Trim37 |
T |
C |
11: 87,040,179 (GRCm39) |
V225A |
possibly damaging |
Het |
| Tubg1 |
G |
T |
11: 101,014,854 (GRCm39) |
A199S |
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 |
|
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'- TCAGCTCAGTTTGCACATTTG -3'
(R):5'- AGCCACAGCCCTTCTTAATG -3'
Sequencing Primer
(F):5'- CTTTGGGCAGCAAGGCAGTG -3'
(R):5'- ACAGCCCTTCTTAATGTGACAG -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation