Incidental Mutation 'R2995:Slc4a3'
| ID |
257164 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc4a3
|
| Ensembl Gene |
ENSMUSG00000006576 |
| Gene Name |
solute carrier family 4 (anion exchanger), member 3 |
| Synonyms |
Ae3, A930038D23Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.096)
|
| Stock # |
R2995 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
75522688-75536075 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 75529306 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 541
(C541*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027415
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027415]
[ENSMUST00000124341]
[ENSMUST00000138814]
[ENSMUST00000150142]
[ENSMUST00000154101]
|
| AlphaFold |
P16283 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000027415
AA Change: C541*
|
| SMART Domains |
Protein: ENSMUSP00000027415
Gene: ENSMUSG00000006576
AA Change: C541*
| 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: V533E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000116747
Gene: ENSMUSG00000006576
AA Change: V533E
| 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: ENSMUST00000138814
|
| SMART Domains |
Protein: ENSMUSP00000122749
Gene: ENSMUSG00000006576
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
74 |
83 |
N/A |
INTRINSIC |
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000145516
|
| 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
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 94.9%
|
| 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: 11 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931406B18Rik |
A |
G |
7: 43,148,792 (GRCm39) |
C43R |
probably damaging |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Clpb |
T |
A |
7: 101,428,531 (GRCm39) |
H430Q |
probably damaging |
Het |
| Eloa |
G |
T |
4: 135,738,217 (GRCm39) |
H248N |
probably benign |
Het |
| Gpsm1 |
G |
A |
2: 26,209,843 (GRCm39) |
|
probably benign |
Het |
| Lhfpl2 |
A |
G |
13: 94,310,966 (GRCm39) |
T79A |
probably benign |
Het |
| Prkaa2 |
T |
C |
4: 104,909,204 (GRCm39) |
Y80C |
probably damaging |
Het |
| Slc4a4 |
A |
T |
5: 89,082,673 (GRCm39) |
E22V |
probably damaging |
Het |
| Stard5 |
T |
C |
7: 83,281,951 (GRCm39) |
V36A |
probably damaging |
Het |
| Tchh |
CACGCGAGGAACGCGAGGAAC |
CACGCGAGGAAC |
3: 93,355,057 (GRCm39) |
|
probably benign |
Het |
| Trpc6 |
G |
T |
9: 8,544,467 (GRCm39) |
G12V |
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 |
|
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'- CGAACAGGGTACTTGAGATCTG -3'
(R):5'- TTGCCAACTCCACTCCAGAG -3'
Sequencing Primer
(F):5'- GAGGTTTCTTTCGCAGTATCCAACG -3'
(R):5'- CTCCAGAGACAGACAGCTAGG -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation