Incidental Mutation 'R5969:Slc4a3'
| ID |
470720 |
| 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 |
044152-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.094)
|
| Stock # |
R5969 (G1)
|
| Quality Score |
220 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
75522688-75536075 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 75526623 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 48
(V48A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116488
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027415]
[ENSMUST00000124341]
[ENSMUST00000138814]
[ENSMUST00000154101]
[ENSMUST00000150142]
|
| 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 benign
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 |
noncoding transcript
Transcript: ENSMUST00000129703
|
| 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 damaging
Transcript: ENSMUST00000154101
AA Change: V48A
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000116488
Gene: ENSMUSG00000006576
AA Change: V48A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
107 |
119 |
N/A |
INTRINSIC |
|
Pfam:Band_3_cyto
|
152 |
227 |
2e-32 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189794
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145516
|
| 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: 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 |
|
| Meta Mutation Damage Score |
0.0890 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.2%
|
| Validation Efficiency |
99% (67/68) |
| 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 |
|---|
| Aaas |
A |
C |
15: 102,258,999 (GRCm39) |
Y19D |
probably damaging |
Het |
| Abca13 |
T |
A |
11: 9,242,214 (GRCm39) |
L1359* |
probably null |
Het |
| Ahi1 |
A |
T |
10: 20,860,292 (GRCm39) |
D671V |
probably damaging |
Het |
| Ahnak |
T |
C |
19: 8,993,949 (GRCm39) |
S5078P |
probably damaging |
Het |
| Ankhd1 |
A |
T |
18: 36,733,887 (GRCm39) |
T584S |
probably damaging |
Het |
| Apba2 |
T |
A |
7: 64,394,195 (GRCm39) |
L568* |
probably null |
Het |
| Cenpn |
C |
A |
8: 117,667,276 (GRCm39) |
L300I |
probably damaging |
Het |
| Cmya5 |
A |
T |
13: 93,226,052 (GRCm39) |
L3012Q |
possibly damaging |
Het |
| Cnnm1 |
T |
C |
19: 43,479,911 (GRCm39) |
S819P |
probably damaging |
Het |
| Cpa6 |
A |
T |
1: 10,559,108 (GRCm39) |
S87T |
probably benign |
Het |
| Crybg2 |
T |
A |
4: 133,803,003 (GRCm39) |
|
probably null |
Het |
| Csmd1 |
T |
A |
8: 16,121,367 (GRCm39) |
T1777S |
probably benign |
Het |
| Csmd3 |
G |
T |
15: 47,811,386 (GRCm39) |
P1235Q |
probably damaging |
Het |
| Cxcr4 |
T |
A |
1: 128,517,584 (GRCm39) |
N24Y |
probably benign |
Het |
| D630003M21Rik |
G |
T |
2: 158,059,628 (GRCm39) |
H91N |
probably damaging |
Het |
| Ece1 |
T |
C |
4: 137,689,051 (GRCm39) |
|
probably null |
Het |
| Edc3 |
T |
C |
9: 57,620,711 (GRCm39) |
S11P |
probably damaging |
Het |
| Eif1ad14 |
T |
C |
12: 87,886,248 (GRCm39) |
D127G |
unknown |
Het |
| Exoc3 |
G |
A |
13: 74,320,305 (GRCm39) |
Q719* |
probably null |
Het |
| Fam13a |
A |
G |
6: 58,942,183 (GRCm39) |
M203T |
probably damaging |
Het |
| Fchsd1 |
C |
T |
18: 38,092,926 (GRCm39) |
|
probably benign |
Het |
| Fhip2a |
C |
T |
19: 57,372,555 (GRCm39) |
R602* |
probably null |
Het |
| Fxyd2 |
T |
A |
9: 45,319,628 (GRCm39) |
I30N |
probably damaging |
Het |
| Gapt |
A |
G |
13: 110,490,480 (GRCm39) |
V61A |
probably benign |
Het |
| Glb1l2 |
C |
T |
9: 26,692,038 (GRCm39) |
A74T |
probably damaging |
Het |
| Gpr35 |
T |
C |
1: 92,910,942 (GRCm39) |
V2A |
probably damaging |
Het |
| Gtf3c1 |
A |
G |
7: 125,244,848 (GRCm39) |
S1729P |
possibly damaging |
Het |
| Heatr5a |
T |
C |
12: 52,005,823 (GRCm39) |
T51A |
probably benign |
Het |
| Kat6b |
G |
A |
14: 21,720,860 (GRCm39) |
M1737I |
probably damaging |
Het |
| Kif20a |
G |
A |
18: 34,765,468 (GRCm39) |
A822T |
probably benign |
Het |
| Klk10 |
A |
G |
7: 43,434,409 (GRCm39) |
Y267C |
probably damaging |
Het |
| Lgmn |
T |
C |
12: 102,372,086 (GRCm39) |
Y98C |
probably damaging |
Het |
| Lyst |
A |
C |
13: 13,862,398 (GRCm39) |
|
probably null |
Het |
| Man2a1 |
A |
G |
17: 64,932,375 (GRCm39) |
K154R |
probably benign |
Het |
| Mfng |
A |
T |
15: 78,648,582 (GRCm39) |
V165D |
possibly damaging |
Het |
| Mto1 |
A |
G |
9: 78,360,187 (GRCm39) |
E225G |
probably damaging |
Het |
| Notch3 |
C |
A |
17: 32,372,858 (GRCm39) |
C571F |
probably damaging |
Het |
| Nup205 |
C |
T |
6: 35,154,513 (GRCm39) |
|
probably benign |
Het |
| Or51b6 |
T |
A |
7: 103,556,117 (GRCm39) |
I157N |
probably damaging |
Het |
| P2ry14 |
T |
A |
3: 59,022,579 (GRCm39) |
I303F |
probably damaging |
Het |
| Pcnx3 |
T |
C |
19: 5,735,563 (GRCm39) |
D421G |
probably damaging |
Het |
| Pdlim4 |
T |
C |
11: 53,954,482 (GRCm39) |
H75R |
possibly damaging |
Het |
| Phf21a |
A |
T |
2: 92,051,956 (GRCm39) |
H17L |
probably damaging |
Het |
| Ppid |
T |
A |
3: 79,505,024 (GRCm39) |
N122K |
probably damaging |
Het |
| Ppp4r3a |
T |
C |
12: 101,009,838 (GRCm39) |
I613V |
probably benign |
Het |
| Prcp |
C |
T |
7: 92,566,974 (GRCm39) |
P229S |
probably benign |
Het |
| Ralgds |
T |
C |
2: 28,432,426 (GRCm39) |
V85A |
probably damaging |
Het |
| Rgs22 |
G |
A |
15: 36,015,782 (GRCm39) |
T1034I |
probably benign |
Het |
| Snx16 |
A |
T |
3: 10,503,217 (GRCm39) |
M10K |
possibly damaging |
Het |
| Svep1 |
G |
A |
4: 58,070,977 (GRCm39) |
Q2270* |
probably null |
Het |
| Tmem185b |
T |
G |
1: 119,455,193 (GRCm39) |
I318S |
probably benign |
Het |
| Tnik |
C |
T |
3: 28,675,097 (GRCm39) |
R657C |
probably damaging |
Het |
| Top3b |
T |
C |
16: 16,701,429 (GRCm39) |
|
probably null |
Het |
| Trim40 |
C |
T |
17: 37,193,319 (GRCm39) |
R203H |
probably benign |
Het |
| Triobp |
T |
A |
15: 78,851,740 (GRCm39) |
N631K |
probably benign |
Het |
| Ubr3 |
T |
G |
2: 69,809,730 (GRCm39) |
Y1233* |
probably null |
Het |
| Vgll3 |
A |
G |
16: 65,636,449 (GRCm39) |
D200G |
probably damaging |
Het |
| Vmn2r24 |
G |
A |
6: 123,755,981 (GRCm39) |
E18K |
probably benign |
Het |
| Zfp141 |
C |
A |
7: 42,138,912 (GRCm39) |
R40L |
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 |
|
|
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'- ACCACATCCAGCTCTGTGTG -3'
(R):5'- GCCTATCAAACAAGCTTATGAAGG -3'
Sequencing Primer
(F):5'- CAATTCTTGGGACAGCCAGG -3'
(R):5'- CAAACAAGCTTATGAAGGGTTGCTTG -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation