Incidental Mutation 'R5921:Slc4a3'
| ID |
461549 |
| 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 |
044118-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.094)
|
| Stock # |
R5921 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
75522688-75536075 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to G
at 75534088 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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 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 |
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 |
0.9491 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.7%
|
| Validation Efficiency |
95% (70/74) |
| 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 |
|---|
| Ablim2 |
G |
A |
5: 35,969,555 (GRCm39) |
V223M |
probably damaging |
Het |
| Adamts7 |
T |
C |
9: 90,070,747 (GRCm39) |
S623P |
probably benign |
Het |
| Aqp7 |
G |
T |
4: 41,036,093 (GRCm39) |
N48K |
probably benign |
Het |
| Asic4 |
A |
G |
1: 75,428,017 (GRCm39) |
N181S |
probably benign |
Het |
| Blvra |
A |
T |
2: 126,929,283 (GRCm39) |
|
probably benign |
Het |
| Bmf |
C |
A |
2: 118,363,034 (GRCm39) |
|
probably benign |
Het |
| Bnc2 |
A |
T |
4: 84,211,292 (GRCm39) |
I454N |
possibly damaging |
Het |
| Catsperg1 |
A |
T |
7: 28,889,948 (GRCm39) |
L700H |
possibly damaging |
Het |
| Ccdc14 |
T |
C |
16: 34,526,761 (GRCm39) |
V222A |
probably damaging |
Het |
| Cfap97d2 |
G |
T |
8: 13,784,840 (GRCm39) |
A34S |
probably damaging |
Het |
| Clstn3 |
A |
T |
6: 124,408,539 (GRCm39) |
|
probably benign |
Het |
| Col15a1 |
A |
T |
4: 47,300,602 (GRCm39) |
I1066F |
probably damaging |
Het |
| Dcdc2c |
T |
C |
12: 28,574,774 (GRCm39) |
E116G |
possibly damaging |
Het |
| Dop1a |
G |
A |
9: 86,383,975 (GRCm39) |
S310N |
probably damaging |
Het |
| Dync1h1 |
T |
A |
12: 110,584,802 (GRCm39) |
V735E |
probably damaging |
Het |
| Eva1a |
T |
C |
6: 82,069,140 (GRCm39) |
Y156H |
probably damaging |
Het |
| Fbxw26 |
A |
G |
9: 109,575,086 (GRCm39) |
I13T |
probably damaging |
Het |
| Fermt2 |
A |
T |
14: 45,702,203 (GRCm39) |
L527Q |
probably damaging |
Het |
| Fxyd4 |
G |
A |
6: 117,913,099 (GRCm39) |
|
probably benign |
Het |
| Gal |
A |
G |
19: 3,460,100 (GRCm39) |
S124P |
probably damaging |
Het |
| Glmp |
T |
C |
3: 88,233,283 (GRCm39) |
S56P |
probably benign |
Het |
| Gm5600 |
T |
C |
7: 113,307,413 (GRCm39) |
|
noncoding transcript |
Het |
| Golga2 |
A |
G |
2: 32,187,767 (GRCm39) |
N194S |
probably benign |
Het |
| Gon4l |
T |
C |
3: 88,817,254 (GRCm39) |
|
probably benign |
Het |
| Gtf2ird2 |
T |
A |
5: 134,246,426 (GRCm39) |
Y895N |
probably damaging |
Het |
| Hsd3b1 |
C |
A |
3: 98,765,215 (GRCm39) |
M22I |
probably benign |
Het |
| Ipo13 |
A |
C |
4: 117,769,286 (GRCm39) |
L169V |
probably benign |
Het |
| Kif13a |
G |
T |
13: 46,978,776 (GRCm39) |
T208K |
probably damaging |
Het |
| Klhl5 |
G |
T |
5: 65,320,299 (GRCm39) |
A618S |
probably damaging |
Het |
| Lrig2 |
A |
T |
3: 104,370,070 (GRCm39) |
L496* |
probably null |
Het |
| Macf1 |
A |
G |
4: 123,420,504 (GRCm39) |
I250T |
probably benign |
Het |
| Man1a |
A |
G |
10: 53,783,606 (GRCm39) |
I632T |
probably damaging |
Het |
| Nav2 |
A |
G |
7: 48,954,324 (GRCm39) |
|
probably benign |
Het |
| Nek8 |
A |
G |
11: 78,063,885 (GRCm39) |
M40T |
probably damaging |
Het |
| Oas3 |
T |
C |
5: 120,908,046 (GRCm39) |
D298G |
probably damaging |
Het |
| Ociad1 |
A |
G |
5: 73,467,725 (GRCm39) |
D167G |
probably benign |
Het |
| Or14j4 |
A |
T |
17: 37,921,110 (GRCm39) |
C177* |
probably null |
Het |
| Or8s5 |
T |
C |
15: 98,238,310 (GRCm39) |
T187A |
probably benign |
Het |
| Or9s13 |
T |
A |
1: 92,548,344 (GRCm39) |
S239T |
probably benign |
Het |
| Pafah2 |
G |
T |
4: 134,145,380 (GRCm39) |
V255L |
probably benign |
Het |
| Pde10a |
A |
G |
17: 9,149,369 (GRCm39) |
Y407C |
probably damaging |
Het |
| Pirb |
A |
C |
7: 3,719,693 (GRCm39) |
Y484* |
probably null |
Het |
| Prl8a6 |
A |
G |
13: 27,621,171 (GRCm39) |
S20P |
probably damaging |
Het |
| R3hdm4 |
A |
T |
10: 79,749,453 (GRCm39) |
V52E |
probably damaging |
Het |
| Rab3ip |
A |
G |
10: 116,775,152 (GRCm39) |
Y69H |
probably damaging |
Het |
| Rxrg |
T |
C |
1: 167,466,808 (GRCm39) |
M330T |
possibly damaging |
Het |
| Sema4g |
G |
T |
19: 44,987,143 (GRCm39) |
G460V |
probably benign |
Het |
| Sidt1 |
T |
C |
16: 44,094,098 (GRCm39) |
|
probably benign |
Het |
| Slc12a2 |
T |
A |
18: 58,065,595 (GRCm39) |
D943E |
probably benign |
Het |
| Slc12a4 |
T |
C |
8: 106,671,876 (GRCm39) |
|
probably null |
Het |
| Slc4a8 |
C |
T |
15: 100,712,328 (GRCm39) |
|
probably benign |
Het |
| Srcap |
T |
A |
7: 127,158,005 (GRCm39) |
|
probably benign |
Het |
| Stk39 |
A |
G |
2: 68,196,449 (GRCm39) |
S327P |
probably damaging |
Het |
| Tbc1d5 |
G |
A |
17: 51,270,721 (GRCm39) |
T170M |
probably damaging |
Het |
| Trim13 |
T |
A |
14: 61,842,538 (GRCm39) |
F185Y |
probably benign |
Het |
| Ttc17 |
A |
G |
2: 94,209,193 (GRCm39) |
V87A |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,551,207 (GRCm39) |
M31395K |
possibly damaging |
Het |
| Usp34 |
T |
A |
11: 23,414,686 (GRCm39) |
D2876E |
probably damaging |
Het |
| Uvssa |
T |
C |
5: 33,547,096 (GRCm39) |
S221P |
probably benign |
Het |
| Vmn2r93 |
T |
A |
17: 18,546,030 (GRCm39) |
L634Q |
probably damaging |
Het |
| Vmp1 |
C |
T |
11: 86,477,336 (GRCm39) |
A355T |
probably benign |
Het |
| Xpo5 |
A |
T |
17: 46,532,347 (GRCm39) |
M461L |
probably benign |
Het |
| Zfp759 |
T |
A |
13: 67,288,558 (GRCm39) |
F703Y |
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 |
|
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'- CTGTCTATCGTCATGGGAGCTG -3'
(R):5'- AGAAGTGCAATGCAGCCCAG -3'
Sequencing Primer
(F):5'- TGTGTTGCGCCGGATCC -3'
(R):5'- CTGGGGTACAGGCTTAGTCTCATTAC -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation