Incidental Mutation 'R1987:Slc4a10'
ID |
222596 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc4a10
|
Ensembl Gene |
ENSMUSG00000026904 |
Gene Name |
solute carrier family 4, sodium bicarbonate cotransporter-like, member 10 |
Synonyms |
NCBE |
MMRRC Submission |
039999-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1987 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
62046462-62326730 bp(+) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 62268204 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Lysine
at position 561
(Q561K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108099
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054484]
[ENSMUST00000102735]
[ENSMUST00000112480]
|
AlphaFold |
Q5DTL9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000054484
AA Change: Q531K
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000061411 Gene: ENSMUSG00000026904 AA Change: Q531K
Domain | Start | End | E-Value | Type |
low complexity region
|
57 |
79 |
N/A |
INTRINSIC |
low complexity region
|
106 |
111 |
N/A |
INTRINSIC |
Pfam:Band_3_cyto
|
146 |
405 |
9e-107 |
PFAM |
Pfam:HCO3_cotransp
|
445 |
959 |
1e-246 |
PFAM |
transmembrane domain
|
967 |
989 |
N/A |
INTRINSIC |
low complexity region
|
1011 |
1025 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000102735
AA Change: Q531K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000099796 Gene: ENSMUSG00000026904 AA Change: Q531K
Domain | Start | End | E-Value | Type |
low complexity region
|
57 |
79 |
N/A |
INTRINSIC |
low complexity region
|
106 |
111 |
N/A |
INTRINSIC |
Pfam:Band_3_cyto
|
146 |
405 |
2e-106 |
PFAM |
Pfam:HCO3_cotransp
|
445 |
959 |
2.4e-246 |
PFAM |
transmembrane domain
|
967 |
989 |
N/A |
INTRINSIC |
low complexity region
|
1011 |
1025 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000112480
AA Change: Q561K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000108099 Gene: ENSMUSG00000026904 AA Change: Q561K
Domain | Start | End | E-Value | Type |
low complexity region
|
57 |
79 |
N/A |
INTRINSIC |
low complexity region
|
106 |
111 |
N/A |
INTRINSIC |
Pfam:Band_3_cyto
|
146 |
435 |
9.6e-108 |
PFAM |
Pfam:HCO3_cotransp
|
476 |
989 |
1.5e-245 |
PFAM |
transmembrane domain
|
997 |
1019 |
N/A |
INTRINSIC |
low complexity region
|
1041 |
1055 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147917
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155219
|
Meta Mutation Damage Score |
0.8202  |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.6%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to a small family of sodium-coupled bicarbonate transporters (NCBTs) that regulate the intracellular pH of neurons, the secretion of bicarbonate ions across the choroid plexus, and the pH of the brain extracellular fluid. The protein encoded by this gene was initially identified as a sodium-driven chloride bicarbonate exchanger (NCBE) though there is now evidence that its sodium/bicarbonate cotransport activity is independent of any chloride ion countertransport under physiological conditions. This gene is now classified as a member A10 of the SLC4 family of transmembrane solute carriers. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, May 2010] PHENOTYPE: Mice with homozygous disruption of this gene exhibit reduced brain ventricle volume, reduced neuronal excitability, impaired pH regulation of neurons, and increased threshold to induced seizures. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610507B11Rik |
A |
T |
11: 78,268,167 |
Q433L |
probably damaging |
Het |
4932438A13Rik |
T |
A |
3: 36,953,985 |
|
probably null |
Het |
Ahnak |
A |
T |
19: 9,015,251 |
D4633V |
probably damaging |
Het |
Akap6 |
T |
C |
12: 53,140,795 |
F1664S |
possibly damaging |
Het |
Arhgef28 |
T |
C |
13: 97,967,096 |
M803V |
probably benign |
Het |
BC117090 |
C |
A |
16: 36,321,832 |
G61C |
probably damaging |
Het |
Ccdc73 |
A |
G |
2: 104,999,159 |
E1059G |
probably damaging |
Het |
Ccdc73 |
T |
A |
2: 104,931,045 |
L130* |
probably null |
Het |
Ccer2 |
A |
C |
7: 28,757,283 |
S151R |
possibly damaging |
Het |
Cep128 |
T |
A |
12: 91,230,829 |
H406L |
probably benign |
Het |
Cep135 |
A |
G |
5: 76,597,428 |
D229G |
probably benign |
Het |
Cpvl |
T |
A |
6: 53,954,611 |
D103V |
probably benign |
Het |
Disp3 |
G |
A |
4: 148,258,753 |
A567V |
probably damaging |
Het |
Dnah5 |
T |
C |
15: 28,343,591 |
I2379T |
probably damaging |
Het |
Dnah6 |
T |
C |
6: 73,095,044 |
Y2433C |
probably damaging |
Het |
Dock3 |
A |
G |
9: 107,108,421 |
I85T |
probably benign |
Het |
Dock9 |
A |
C |
14: 121,591,830 |
S1380A |
probably benign |
Het |
Erbin |
T |
C |
13: 103,886,203 |
T43A |
probably benign |
Het |
Fastkd3 |
T |
C |
13: 68,585,241 |
V502A |
possibly damaging |
Het |
Fn1 |
T |
C |
1: 71,651,625 |
H59R |
probably damaging |
Het |
Fsd2 |
A |
G |
7: 81,559,659 |
V145A |
possibly damaging |
Het |
Fzr1 |
A |
G |
10: 81,370,319 |
V178A |
probably damaging |
Het |
Gnpnat1 |
T |
C |
14: 45,380,998 |
R116G |
probably damaging |
Het |
Grm7 |
T |
A |
6: 110,914,511 |
V235E |
probably damaging |
Het |
Hdac4 |
A |
C |
1: 91,934,645 |
N1002K |
probably damaging |
Het |
Hey1 |
C |
T |
3: 8,664,897 |
A167T |
probably benign |
Het |
Hrnr |
A |
G |
3: 93,332,604 |
N3383S |
unknown |
Het |
Ints2 |
A |
T |
11: 86,217,800 |
V907D |
probably benign |
Het |
Ispd |
T |
A |
12: 36,521,996 |
L301Q |
probably damaging |
Het |
Jchain |
T |
A |
5: 88,521,467 |
Q109L |
probably damaging |
Het |
Klhdc7a |
A |
T |
4: 139,966,024 |
Y537* |
probably null |
Het |
Klra1 |
C |
T |
6: 130,377,779 |
S92N |
probably benign |
Het |
Krt31 |
C |
T |
11: 100,049,580 |
G150S |
probably benign |
Het |
Lrrc71 |
G |
A |
3: 87,742,643 |
T326M |
probably benign |
Het |
Lrrn4 |
T |
C |
2: 132,870,443 |
T487A |
probably benign |
Het |
Map4k5 |
T |
G |
12: 69,842,912 |
R198S |
probably damaging |
Het |
Men1 |
G |
A |
19: 6,338,837 |
C354Y |
probably damaging |
Het |
Ms4a18 |
A |
T |
19: 11,013,655 |
V25E |
probably damaging |
Het |
Mutyh |
T |
A |
4: 116,819,368 |
S512R |
possibly damaging |
Het |
Myh10 |
G |
T |
11: 68,814,496 |
A1947S |
possibly damaging |
Het |
Nfasc |
T |
C |
1: 132,610,886 |
D427G |
probably damaging |
Het |
Nlrp9c |
A |
G |
7: 26,378,056 |
M767T |
probably benign |
Het |
Nrbp1 |
T |
C |
5: 31,245,391 |
L185P |
probably damaging |
Het |
Pcdh9 |
G |
A |
14: 93,888,305 |
P143L |
probably damaging |
Het |
Pcsk6 |
A |
T |
7: 65,927,287 |
M158L |
possibly damaging |
Het |
Pkd1 |
G |
T |
17: 24,576,592 |
|
probably null |
Het |
Plk4 |
A |
T |
3: 40,805,817 |
S383C |
possibly damaging |
Het |
Plxna2 |
T |
C |
1: 194,643,989 |
L77P |
probably damaging |
Het |
Pnpla6 |
A |
T |
8: 3,542,370 |
T1209S |
probably benign |
Het |
Prdm2 |
A |
G |
4: 143,132,509 |
S1404P |
possibly damaging |
Het |
Preb |
T |
C |
5: 30,958,813 |
D150G |
probably damaging |
Het |
Prrt2 |
A |
G |
7: 127,018,730 |
V59A |
probably benign |
Het |
Prss40 |
T |
C |
1: 34,558,014 |
N151S |
possibly damaging |
Het |
Ptprt |
A |
G |
2: 161,766,321 |
V685A |
possibly damaging |
Het |
Ptprt |
G |
T |
2: 161,558,898 |
A1053D |
probably damaging |
Het |
Rfx4 |
C |
T |
10: 84,896,088 |
S549F |
possibly damaging |
Het |
Rnaset2b |
T |
A |
17: 6,996,477 |
V87E |
probably benign |
Het |
Rnf213 |
G |
A |
11: 119,441,107 |
E2381K |
probably damaging |
Het |
Sectm1a |
A |
T |
11: 121,069,680 |
I103N |
probably damaging |
Het |
Selp |
T |
A |
1: 164,142,758 |
L597Q |
probably damaging |
Het |
Sema6a |
T |
C |
18: 47,300,142 |
D74G |
probably damaging |
Het |
Serpinb9b |
T |
C |
13: 33,029,559 |
V33A |
probably benign |
Het |
Setd1b |
A |
T |
5: 123,147,706 |
T272S |
unknown |
Het |
Sgf29 |
G |
C |
7: 126,649,477 |
|
probably null |
Het |
Slc4a5 |
T |
C |
6: 83,273,232 |
I649T |
possibly damaging |
Het |
Slc5a7 |
A |
G |
17: 54,293,835 |
Y91H |
probably damaging |
Het |
Styxl1 |
T |
C |
5: 135,757,122 |
Y23C |
probably damaging |
Het |
Tbc1d24 |
A |
G |
17: 24,206,872 |
V490A |
possibly damaging |
Het |
Tbpl2 |
A |
T |
2: 24,094,732 |
F133L |
probably benign |
Het |
Tcrg-C3 |
C |
A |
13: 19,260,994 |
F37L |
probably damaging |
Het |
Tnfrsf22 |
T |
C |
7: 143,638,389 |
|
probably benign |
Het |
Top2b |
A |
G |
14: 16,398,916 |
E512G |
probably damaging |
Het |
Ttc17 |
T |
A |
2: 94,364,345 |
H561L |
probably benign |
Het |
Ttll4 |
G |
T |
1: 74,685,368 |
V566L |
possibly damaging |
Het |
Ubqlnl |
A |
G |
7: 104,148,485 |
Y602H |
probably benign |
Het |
Vmn1r231 |
T |
A |
17: 20,889,950 |
E234D |
probably damaging |
Het |
Wbp11 |
A |
G |
6: 136,820,585 |
S279P |
probably damaging |
Het |
Wdr6 |
A |
G |
9: 108,576,534 |
L50P |
probably damaging |
Het |
Zfp715 |
A |
C |
7: 43,298,649 |
I629S |
possibly damaging |
Het |
|
Other mutations in Slc4a10 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00676:Slc4a10
|
APN |
2 |
62,290,001 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL00990:Slc4a10
|
APN |
2 |
62,286,940 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL01294:Slc4a10
|
APN |
2 |
62,253,309 (GRCm38) |
critical splice acceptor site |
probably null |
|
IGL01628:Slc4a10
|
APN |
2 |
62,268,666 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL01773:Slc4a10
|
APN |
2 |
62,190,757 (GRCm38) |
missense |
probably damaging |
0.97 |
IGL02119:Slc4a10
|
APN |
2 |
62,228,670 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL02125:Slc4a10
|
APN |
2 |
62,268,171 (GRCm38) |
missense |
probably benign |
0.02 |
IGL02406:Slc4a10
|
APN |
2 |
62,190,769 (GRCm38) |
missense |
probably benign |
0.37 |
IGL02890:Slc4a10
|
APN |
2 |
62,286,916 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL02959:Slc4a10
|
APN |
2 |
62,268,143 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL02979:Slc4a10
|
APN |
2 |
62,288,747 (GRCm38) |
missense |
probably null |
1.00 |
IGL03144:Slc4a10
|
APN |
2 |
62,250,466 (GRCm38) |
missense |
probably benign |
0.00 |
IGL03175:Slc4a10
|
APN |
2 |
62,296,960 (GRCm38) |
missense |
probably damaging |
0.99 |
IGL03383:Slc4a10
|
APN |
2 |
62,267,436 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL03412:Slc4a10
|
APN |
2 |
62,250,543 (GRCm38) |
splice site |
probably benign |
|
R0085:Slc4a10
|
UTSW |
2 |
62,244,346 (GRCm38) |
splice site |
probably benign |
|
R0401:Slc4a10
|
UTSW |
2 |
62,190,848 (GRCm38) |
missense |
probably benign |
0.27 |
R0433:Slc4a10
|
UTSW |
2 |
62,289,983 (GRCm38) |
missense |
probably benign |
0.01 |
R0482:Slc4a10
|
UTSW |
2 |
62,297,017 (GRCm38) |
splice site |
probably benign |
|
R0506:Slc4a10
|
UTSW |
2 |
62,250,533 (GRCm38) |
missense |
probably benign |
0.13 |
R0511:Slc4a10
|
UTSW |
2 |
62,286,862 (GRCm38) |
missense |
probably damaging |
0.97 |
R0590:Slc4a10
|
UTSW |
2 |
62,190,893 (GRCm38) |
splice site |
probably benign |
|
R0883:Slc4a10
|
UTSW |
2 |
62,243,398 (GRCm38) |
missense |
probably benign |
0.11 |
R1167:Slc4a10
|
UTSW |
2 |
62,228,574 (GRCm38) |
missense |
probably damaging |
1.00 |
R1276:Slc4a10
|
UTSW |
2 |
62,250,443 (GRCm38) |
missense |
probably damaging |
0.99 |
R1395:Slc4a10
|
UTSW |
2 |
62,313,286 (GRCm38) |
missense |
probably benign |
0.00 |
R1455:Slc4a10
|
UTSW |
2 |
62,286,930 (GRCm38) |
missense |
probably damaging |
1.00 |
R1589:Slc4a10
|
UTSW |
2 |
62,257,462 (GRCm38) |
missense |
probably damaging |
1.00 |
R1677:Slc4a10
|
UTSW |
2 |
62,324,727 (GRCm38) |
missense |
probably benign |
|
R1848:Slc4a10
|
UTSW |
2 |
62,316,606 (GRCm38) |
missense |
probably damaging |
1.00 |
R1988:Slc4a10
|
UTSW |
2 |
62,268,204 (GRCm38) |
missense |
probably damaging |
1.00 |
R2018:Slc4a10
|
UTSW |
2 |
62,234,381 (GRCm38) |
missense |
probably damaging |
1.00 |
R2019:Slc4a10
|
UTSW |
2 |
62,234,381 (GRCm38) |
missense |
probably damaging |
1.00 |
R2407:Slc4a10
|
UTSW |
2 |
62,313,343 (GRCm38) |
missense |
probably benign |
|
R4067:Slc4a10
|
UTSW |
2 |
62,046,645 (GRCm38) |
start codon destroyed |
probably benign |
0.00 |
R4184:Slc4a10
|
UTSW |
2 |
62,317,442 (GRCm38) |
intron |
probably benign |
|
R4255:Slc4a10
|
UTSW |
2 |
62,281,936 (GRCm38) |
missense |
probably benign |
0.10 |
R4282:Slc4a10
|
UTSW |
2 |
62,244,343 (GRCm38) |
splice site |
probably null |
|
R4296:Slc4a10
|
UTSW |
2 |
62,234,428 (GRCm38) |
missense |
possibly damaging |
0.80 |
R4361:Slc4a10
|
UTSW |
2 |
62,243,385 (GRCm38) |
missense |
probably benign |
0.00 |
R4596:Slc4a10
|
UTSW |
2 |
62,296,858 (GRCm38) |
missense |
probably damaging |
1.00 |
R4709:Slc4a10
|
UTSW |
2 |
62,257,517 (GRCm38) |
missense |
probably null |
1.00 |
R4755:Slc4a10
|
UTSW |
2 |
62,296,988 (GRCm38) |
missense |
probably damaging |
1.00 |
R4836:Slc4a10
|
UTSW |
2 |
62,268,187 (GRCm38) |
missense |
probably damaging |
1.00 |
R4841:Slc4a10
|
UTSW |
2 |
62,257,595 (GRCm38) |
missense |
possibly damaging |
0.68 |
R4998:Slc4a10
|
UTSW |
2 |
62,244,439 (GRCm38) |
missense |
probably benign |
0.00 |
R5069:Slc4a10
|
UTSW |
2 |
62,267,571 (GRCm38) |
missense |
probably benign |
0.06 |
R5223:Slc4a10
|
UTSW |
2 |
62,253,366 (GRCm38) |
missense |
probably damaging |
1.00 |
R5244:Slc4a10
|
UTSW |
2 |
62,288,725 (GRCm38) |
missense |
probably damaging |
1.00 |
R5386:Slc4a10
|
UTSW |
2 |
62,290,058 (GRCm38) |
missense |
probably damaging |
1.00 |
R5808:Slc4a10
|
UTSW |
2 |
62,250,472 (GRCm38) |
missense |
probably damaging |
1.00 |
R5999:Slc4a10
|
UTSW |
2 |
62,243,431 (GRCm38) |
missense |
probably benign |
0.10 |
R6007:Slc4a10
|
UTSW |
2 |
62,268,872 (GRCm38) |
missense |
probably benign |
0.44 |
R6009:Slc4a10
|
UTSW |
2 |
62,046,690 (GRCm38) |
missense |
probably benign |
0.00 |
R6015:Slc4a10
|
UTSW |
2 |
62,228,702 (GRCm38) |
missense |
probably benign |
0.05 |
R6103:Slc4a10
|
UTSW |
2 |
62,234,465 (GRCm38) |
missense |
probably damaging |
1.00 |
R6141:Slc4a10
|
UTSW |
2 |
62,211,445 (GRCm38) |
missense |
probably damaging |
1.00 |
R6193:Slc4a10
|
UTSW |
2 |
62,243,357 (GRCm38) |
splice site |
probably null |
|
R6217:Slc4a10
|
UTSW |
2 |
62,303,951 (GRCm38) |
missense |
probably benign |
0.27 |
R6280:Slc4a10
|
UTSW |
2 |
62,281,966 (GRCm38) |
missense |
probably benign |
0.05 |
R6523:Slc4a10
|
UTSW |
2 |
62,286,961 (GRCm38) |
nonsense |
probably null |
|
R6643:Slc4a10
|
UTSW |
2 |
62,228,710 (GRCm38) |
missense |
possibly damaging |
0.96 |
R6660:Slc4a10
|
UTSW |
2 |
62,250,403 (GRCm38) |
missense |
possibly damaging |
0.55 |
R7008:Slc4a10
|
UTSW |
2 |
62,286,922 (GRCm38) |
missense |
probably benign |
0.00 |
R7083:Slc4a10
|
UTSW |
2 |
62,234,495 (GRCm38) |
missense |
probably benign |
0.03 |
R7223:Slc4a10
|
UTSW |
2 |
62,268,665 (GRCm38) |
missense |
probably damaging |
0.99 |
R7243:Slc4a10
|
UTSW |
2 |
62,303,862 (GRCm38) |
missense |
probably damaging |
1.00 |
R7449:Slc4a10
|
UTSW |
2 |
62,303,946 (GRCm38) |
missense |
probably benign |
|
R7621:Slc4a10
|
UTSW |
2 |
62,250,479 (GRCm38) |
missense |
probably damaging |
0.98 |
R7692:Slc4a10
|
UTSW |
2 |
62,303,964 (GRCm38) |
missense |
possibly damaging |
0.94 |
R7742:Slc4a10
|
UTSW |
2 |
62,296,850 (GRCm38) |
missense |
probably damaging |
1.00 |
R7905:Slc4a10
|
UTSW |
2 |
62,268,151 (GRCm38) |
missense |
probably damaging |
1.00 |
R8179:Slc4a10
|
UTSW |
2 |
62,243,448 (GRCm38) |
missense |
possibly damaging |
0.64 |
R8528:Slc4a10
|
UTSW |
2 |
62,296,796 (GRCm38) |
missense |
possibly damaging |
0.79 |
R8531:Slc4a10
|
UTSW |
2 |
62,267,507 (GRCm38) |
missense |
probably damaging |
1.00 |
R8772:Slc4a10
|
UTSW |
2 |
62,303,940 (GRCm38) |
missense |
probably damaging |
1.00 |
R9307:Slc4a10
|
UTSW |
2 |
62,253,318 (GRCm38) |
missense |
probably damaging |
1.00 |
R9531:Slc4a10
|
UTSW |
2 |
62,268,810 (GRCm38) |
missense |
probably damaging |
1.00 |
R9732:Slc4a10
|
UTSW |
2 |
62,304,742 (GRCm38) |
missense |
probably damaging |
0.97 |
U24488:Slc4a10
|
UTSW |
2 |
62,046,658 (GRCm38) |
missense |
probably benign |
0.05 |
X0019:Slc4a10
|
UTSW |
2 |
62,228,599 (GRCm38) |
missense |
probably damaging |
1.00 |
Z1088:Slc4a10
|
UTSW |
2 |
62,228,571 (GRCm38) |
missense |
probably damaging |
1.00 |
Z1176:Slc4a10
|
UTSW |
2 |
62,244,416 (GRCm38) |
missense |
probably benign |
|
Z1176:Slc4a10
|
UTSW |
2 |
62,211,379 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CACAGGTTTCTAGGAATAACACAGTG -3'
(R):5'- GCAACTTCACATCCCATGGC -3'
Sequencing Primer
(F):5'- TTTCTAGGAATAACACAGTGAAAGG -3'
(R):5'- CAAGCTAGTAGGGGGTTCTTAGCAC -3'
|
Posted On |
2014-08-25 |