Incidental Mutation 'R9758:Slc4a3'
| ID |
732824 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.094)
|
| Stock # |
R9758 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
75522688-75536075 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 75534319 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 1161
(I1161F)
|
| 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: I1161F
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000116747
Gene: ENSMUSG00000006576
AA Change: I1161F
| 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: 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.5%
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actc1 |
T |
C |
2: 113,879,799 (GRCm39) |
Y220C |
probably damaging |
Het |
| Actmap |
T |
C |
7: 26,896,655 (GRCm39) |
S73P |
possibly damaging |
Het |
| Bmper |
G |
A |
9: 23,286,902 (GRCm39) |
G276D |
possibly damaging |
Het |
| C2cd5 |
A |
T |
6: 142,984,613 (GRCm39) |
M549K |
probably benign |
Het |
| Caprin1 |
A |
G |
2: 103,606,283 (GRCm39) |
V319A |
possibly damaging |
Het |
| Cchcr1 |
G |
A |
17: 35,839,285 (GRCm39) |
|
probably null |
Het |
| Cdc42bpb |
A |
T |
12: 111,265,783 (GRCm39) |
V1383E |
possibly damaging |
Het |
| Cep350 |
T |
C |
1: 155,770,433 (GRCm39) |
E1819G |
probably damaging |
Het |
| Ces4a |
A |
G |
8: 105,869,054 (GRCm39) |
E163G |
possibly damaging |
Het |
| Chrnd |
C |
T |
1: 87,118,792 (GRCm39) |
R50* |
probably null |
Het |
| Cntn3 |
A |
G |
6: 102,183,511 (GRCm39) |
S715P |
probably damaging |
Het |
| Creb1 |
A |
T |
1: 64,598,909 (GRCm39) |
R95S |
probably benign |
Het |
| Ctdp1 |
T |
C |
18: 80,492,710 (GRCm39) |
Y595C |
probably damaging |
Het |
| Cts7 |
C |
T |
13: 61,504,223 (GRCm39) |
E86K |
probably damaging |
Het |
| Dazap1 |
A |
G |
10: 80,113,440 (GRCm39) |
N113S |
unknown |
Het |
| Dhdds |
T |
C |
4: 133,727,706 (GRCm39) |
|
probably null |
Het |
| Dnaaf9 |
A |
G |
2: 130,554,938 (GRCm39) |
S998P |
probably damaging |
Het |
| Dnah1 |
T |
C |
14: 30,985,395 (GRCm39) |
D3832G |
probably damaging |
Het |
| Drd1 |
A |
G |
13: 54,207,182 (GRCm39) |
L344P |
probably damaging |
Het |
| Fam135b |
G |
A |
15: 71,324,199 (GRCm39) |
T1256I |
probably benign |
Het |
| Fam234a |
A |
T |
17: 26,432,627 (GRCm39) |
D507E |
probably benign |
Het |
| Fbxw16 |
A |
T |
9: 109,278,169 (GRCm39) |
I3N |
probably benign |
Het |
| Foxd4 |
A |
T |
19: 24,877,670 (GRCm39) |
W177R |
probably damaging |
Het |
| Fyb2 |
A |
G |
4: 104,802,961 (GRCm39) |
S288G |
probably benign |
Het |
| Gadl1 |
A |
G |
9: 115,789,519 (GRCm39) |
H275R |
probably benign |
Het |
| Gbp5 |
A |
G |
3: 142,206,366 (GRCm39) |
T17A |
probably benign |
Het |
| Gm1110 |
A |
T |
9: 26,800,894 (GRCm39) |
Y433* |
probably null |
Het |
| Gm6408 |
C |
A |
5: 146,420,628 (GRCm39) |
D169E |
probably benign |
Het |
| Gramd2b |
T |
A |
18: 56,611,972 (GRCm39) |
V145E |
probably damaging |
Het |
| Grip1 |
G |
A |
10: 119,874,569 (GRCm39) |
E778K |
possibly damaging |
Het |
| Hcn1 |
GCA |
GCAACA |
13: 118,112,305 (GRCm39) |
|
probably benign |
Het |
| Hif1an |
G |
A |
19: 44,558,378 (GRCm39) |
V293M |
probably damaging |
Het |
| Hyal3 |
A |
G |
9: 107,462,347 (GRCm39) |
D127G |
probably damaging |
Het |
| Ighg1 |
T |
A |
12: 113,293,252 (GRCm39) |
D146V |
possibly damaging |
Het |
| Iws1 |
T |
A |
18: 32,216,347 (GRCm39) |
D362E |
probably damaging |
Het |
| Kif21b |
G |
A |
1: 136,080,961 (GRCm39) |
E601K |
probably damaging |
Het |
| Kndc1 |
C |
A |
7: 139,500,620 (GRCm39) |
P662T |
possibly damaging |
Het |
| Krtap13-1 |
C |
T |
16: 88,526,229 (GRCm39) |
T151I |
probably benign |
Het |
| Ndufa10 |
A |
T |
1: 92,379,752 (GRCm39) |
I327N |
probably benign |
Het |
| Or10ag53 |
A |
G |
2: 87,082,439 (GRCm39) |
I53V |
possibly damaging |
Het |
| Or10z1 |
A |
G |
1: 174,077,902 (GRCm39) |
L197P |
probably damaging |
Het |
| Pcdhb14 |
T |
C |
18: 37,582,040 (GRCm39) |
V382A |
probably benign |
Het |
| Pex1 |
A |
T |
5: 3,685,876 (GRCm39) |
I1206F |
probably damaging |
Het |
| Pi4k2b |
T |
A |
5: 52,918,331 (GRCm39) |
D386E |
probably benign |
Het |
| Pik3c2a |
A |
G |
7: 115,945,427 (GRCm39) |
F1460L |
probably damaging |
Het |
| Plcb2 |
A |
C |
2: 118,545,921 (GRCm39) |
M588R |
probably damaging |
Het |
| Prl7d1 |
C |
A |
13: 27,893,260 (GRCm39) |
R216L |
possibly damaging |
Het |
| Psg28 |
G |
T |
7: 18,156,887 (GRCm39) |
Y449* |
probably null |
Het |
| Psg28 |
T |
A |
7: 18,164,602 (GRCm39) |
T37S |
probably benign |
Het |
| Psmd9 |
G |
T |
5: 123,372,745 (GRCm39) |
R76M |
probably damaging |
Het |
| Rfc1 |
T |
C |
5: 65,459,391 (GRCm39) |
D189G |
probably benign |
Het |
| Rnf207 |
A |
G |
4: 152,397,666 (GRCm39) |
S363P |
probably benign |
Het |
| Sco1 |
T |
A |
11: 66,949,250 (GRCm39) |
D239E |
probably damaging |
Het |
| Sec24d |
C |
T |
3: 123,136,803 (GRCm39) |
T512M |
probably damaging |
Het |
| Shkbp1 |
T |
C |
7: 27,046,442 (GRCm39) |
K441E |
probably benign |
Het |
| Slc44a5 |
A |
T |
3: 153,959,322 (GRCm39) |
I338F |
probably damaging |
Het |
| Spmip11 |
T |
A |
15: 98,483,264 (GRCm39) |
L65I |
probably damaging |
Het |
| Tnfsf9 |
T |
A |
17: 57,414,355 (GRCm39) |
L261M |
probably damaging |
Het |
| Trim55 |
C |
T |
3: 19,699,498 (GRCm39) |
R77C |
probably damaging |
Het |
| Vmn2r27 |
A |
G |
6: 124,168,637 (GRCm39) |
I831T |
possibly damaging |
Het |
| Vwa3b |
A |
G |
1: 37,081,438 (GRCm39) |
I60V |
probably benign |
Het |
| Vwf |
A |
G |
6: 125,603,230 (GRCm39) |
N860S |
|
Het |
| Zfp54 |
T |
A |
17: 21,654,149 (GRCm39) |
N214K |
probably benign |
Het |
| Zfp707 |
T |
C |
15: 75,845,418 (GRCm39) |
I94T |
|
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 |
|
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 |
|
Z1176:Slc4a3
|
UTSW |
1 |
75,530,879 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTCCTTGGCTAGGGATGAG -3'
(R):5'- CGAGCATGCAGTAACTTTCCC -3'
Sequencing Primer
(F):5'- CCTTGGCTAGGGATGAGCAGAAG -3'
(R):5'- GCCAGGTATCTAAATCAGTGCC -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation