Incidental Mutation 'R5999:Slc4a10'
| ID |
480705 |
| 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 |
044178-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5999 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
61876806-62157074 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 62073775 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 279
(N279I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108099
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054484]
[ENSMUST00000102735]
[ENSMUST00000112480]
|
| AlphaFold |
Q5DTL9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000054484
AA Change: N279I
PolyPhen 2
Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000061411
Gene: ENSMUSG00000026904
AA Change: N279I
| 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 benign
Transcript: ENSMUST00000102735
AA Change: N279I
PolyPhen 2
Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000099796
Gene: ENSMUSG00000026904
AA Change: N279I
| 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 benign
Transcript: ENSMUST00000112480
AA Change: N279I
PolyPhen 2
Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000108099
Gene: ENSMUSG00000026904
AA Change: N279I
| 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: ENSMUST00000155219
|
| Meta Mutation Damage Score |
0.1171 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.2%
- 20x: 90.9%
|
| Validation Efficiency |
98% (55/56) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot5 |
A |
G |
12: 84,122,328 (GRCm39) |
D304G |
probably benign |
Het |
| Acyp2 |
C |
T |
11: 30,456,354 (GRCm39) |
E98K |
possibly damaging |
Het |
| Akap9 |
A |
G |
5: 4,093,925 (GRCm39) |
N2149S |
probably damaging |
Het |
| Akp3 |
T |
A |
1: 87,055,263 (GRCm39) |
Y437N |
probably damaging |
Het |
| Anks1b |
C |
T |
10: 90,194,910 (GRCm39) |
T530I |
probably damaging |
Het |
| Bltp2 |
T |
C |
11: 78,176,294 (GRCm39) |
F1799L |
probably damaging |
Het |
| Bnc2 |
C |
T |
4: 84,474,137 (GRCm39) |
R3H |
probably benign |
Het |
| Cald1 |
A |
T |
6: 34,723,273 (GRCm39) |
|
probably benign |
Het |
| Capn9 |
A |
G |
8: 125,315,817 (GRCm39) |
T87A |
probably damaging |
Het |
| Ccdc88c |
A |
G |
12: 100,934,613 (GRCm39) |
L175P |
probably damaging |
Het |
| Cd226 |
T |
C |
18: 89,225,343 (GRCm39) |
V80A |
probably damaging |
Het |
| Cd44 |
A |
T |
2: 102,675,742 (GRCm39) |
N310K |
probably benign |
Het |
| Cenpc1 |
T |
A |
5: 86,160,122 (GRCm39) |
K905N |
probably damaging |
Het |
| Cept1 |
A |
T |
3: 106,440,759 (GRCm39) |
D133E |
probably damaging |
Het |
| Cltc |
T |
C |
11: 86,594,955 (GRCm39) |
H1381R |
possibly damaging |
Het |
| Col4a4 |
T |
A |
1: 82,470,340 (GRCm39) |
T730S |
unknown |
Het |
| Col6a4 |
A |
T |
9: 105,945,120 (GRCm39) |
M998K |
probably benign |
Het |
| Cpne6 |
T |
C |
14: 55,750,516 (GRCm39) |
V119A |
probably benign |
Het |
| Ddx54 |
G |
T |
5: 120,761,645 (GRCm39) |
A474S |
probably benign |
Het |
| Dmbx1 |
G |
T |
4: 115,775,373 (GRCm39) |
N302K |
probably damaging |
Het |
| Dnah8 |
A |
G |
17: 30,882,279 (GRCm39) |
E617G |
probably benign |
Het |
| Ei24 |
A |
G |
9: 36,704,603 (GRCm39) |
V10A |
probably benign |
Het |
| Elp3 |
A |
G |
14: 65,768,989 (GRCm39) |
V543A |
probably benign |
Het |
| Frmd3 |
T |
C |
4: 74,088,928 (GRCm39) |
I375T |
possibly damaging |
Het |
| Gm6408 |
A |
G |
5: 146,421,067 (GRCm39) |
D232G |
possibly damaging |
Het |
| Inmt |
A |
T |
6: 55,151,933 (GRCm39) |
Y12* |
probably null |
Het |
| Inpp5k |
G |
T |
11: 75,523,926 (GRCm39) |
A44S |
probably damaging |
Het |
| Kalrn |
T |
A |
16: 34,177,713 (GRCm39) |
T169S |
probably damaging |
Het |
| Kif28 |
A |
T |
1: 179,523,355 (GRCm39) |
F992I |
probably damaging |
Het |
| Kmt2c |
A |
T |
5: 25,489,203 (GRCm39) |
Y1199N |
probably damaging |
Het |
| Large2 |
C |
T |
2: 92,196,403 (GRCm39) |
E475K |
probably benign |
Het |
| Mroh2b |
T |
A |
15: 4,942,366 (GRCm39) |
|
probably null |
Het |
| Mrpl42 |
T |
C |
10: 95,336,341 (GRCm39) |
|
probably benign |
Het |
| Muc5b |
A |
T |
7: 141,411,116 (GRCm39) |
H1354L |
unknown |
Het |
| Myof |
C |
A |
19: 37,928,304 (GRCm39) |
E1095* |
probably null |
Het |
| Ncor2 |
A |
G |
5: 125,110,505 (GRCm39) |
V1385A |
probably damaging |
Het |
| Nr5a2 |
T |
C |
1: 136,773,280 (GRCm39) |
Y474C |
probably damaging |
Het |
| Or1j10 |
A |
G |
2: 36,267,322 (GRCm39) |
D178G |
probably damaging |
Het |
| Or5a21 |
C |
T |
19: 12,311,008 (GRCm39) |
D71N |
probably damaging |
Het |
| Or5l13 |
A |
T |
2: 87,780,145 (GRCm39) |
|
probably null |
Het |
| Pogz |
A |
G |
3: 94,763,428 (GRCm39) |
T67A |
possibly damaging |
Het |
| Prep |
T |
A |
10: 44,948,225 (GRCm39) |
|
probably null |
Het |
| Prf1 |
A |
G |
10: 61,138,807 (GRCm39) |
D255G |
probably damaging |
Het |
| Psme2 |
A |
G |
14: 55,827,539 (GRCm39) |
L24P |
probably damaging |
Het |
| Scmh1 |
T |
A |
4: 120,362,712 (GRCm39) |
|
probably null |
Het |
| Scpep1 |
A |
G |
11: 88,820,139 (GRCm39) |
V383A |
possibly damaging |
Het |
| Sphkap |
T |
C |
1: 83,245,126 (GRCm39) |
S1498G |
probably benign |
Het |
| Spinkl |
C |
A |
18: 44,301,206 (GRCm39) |
S44I |
probably damaging |
Het |
| Tanc2 |
G |
A |
11: 105,758,543 (GRCm39) |
R768Q |
probably damaging |
Het |
| Tle5 |
T |
C |
10: 81,397,098 (GRCm39) |
S25P |
probably damaging |
Het |
| Tmem213 |
A |
G |
6: 38,086,386 (GRCm39) |
Q14R |
probably benign |
Het |
| Tns1 |
A |
T |
1: 73,967,256 (GRCm39) |
Y1172* |
probably null |
Het |
| Ugt2b37 |
A |
C |
5: 87,402,036 (GRCm39) |
I198M |
probably benign |
Het |
| Usp17lb |
A |
C |
7: 104,489,552 (GRCm39) |
I457M |
probably damaging |
Het |
| Usp6nl |
G |
T |
2: 6,446,150 (GRCm39) |
R709L |
probably damaging |
Het |
| Zer1 |
A |
G |
2: 29,995,009 (GRCm39) |
L462P |
probably damaging |
Het |
| Zfhx2 |
A |
G |
14: 55,311,462 (GRCm39) |
S411P |
probably benign |
Het |
|
| Other mutations in Slc4a10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00676:Slc4a10
|
APN |
2 |
62,120,345 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00990:Slc4a10
|
APN |
2 |
62,117,284 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01294:Slc4a10
|
APN |
2 |
62,083,653 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL01628:Slc4a10
|
APN |
2 |
62,099,010 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01773:Slc4a10
|
APN |
2 |
62,021,101 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02119:Slc4a10
|
APN |
2 |
62,059,014 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02125:Slc4a10
|
APN |
2 |
62,098,515 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02406:Slc4a10
|
APN |
2 |
62,021,113 (GRCm39) |
missense |
probably benign |
0.37 |
|
IGL02890:Slc4a10
|
APN |
2 |
62,117,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02959:Slc4a10
|
APN |
2 |
62,098,487 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02979:Slc4a10
|
APN |
2 |
62,119,091 (GRCm39) |
missense |
probably null |
1.00 |
|
IGL03144:Slc4a10
|
APN |
2 |
62,080,810 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03175:Slc4a10
|
APN |
2 |
62,127,304 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03383:Slc4a10
|
APN |
2 |
62,097,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03412:Slc4a10
|
APN |
2 |
62,080,887 (GRCm39) |
splice site |
probably benign |
|
|
R0085:Slc4a10
|
UTSW |
2 |
62,074,690 (GRCm39) |
splice site |
probably benign |
|
|
R0401:Slc4a10
|
UTSW |
2 |
62,021,192 (GRCm39) |
missense |
probably benign |
0.27 |
|
R0433:Slc4a10
|
UTSW |
2 |
62,120,327 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0482:Slc4a10
|
UTSW |
2 |
62,127,361 (GRCm39) |
splice site |
probably benign |
|
|
R0506:Slc4a10
|
UTSW |
2 |
62,080,877 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0511:Slc4a10
|
UTSW |
2 |
62,117,206 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0590:Slc4a10
|
UTSW |
2 |
62,021,237 (GRCm39) |
splice site |
probably benign |
|
|
R0883:Slc4a10
|
UTSW |
2 |
62,073,742 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1167:Slc4a10
|
UTSW |
2 |
62,058,918 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1276:Slc4a10
|
UTSW |
2 |
62,080,787 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1395:Slc4a10
|
UTSW |
2 |
62,143,630 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1455:Slc4a10
|
UTSW |
2 |
62,117,274 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1589:Slc4a10
|
UTSW |
2 |
62,087,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1677:Slc4a10
|
UTSW |
2 |
62,155,071 (GRCm39) |
missense |
probably benign |
|
|
R1848:Slc4a10
|
UTSW |
2 |
62,146,950 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1987:Slc4a10
|
UTSW |
2 |
62,098,548 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1988:Slc4a10
|
UTSW |
2 |
62,098,548 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2018:Slc4a10
|
UTSW |
2 |
62,064,725 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2019:Slc4a10
|
UTSW |
2 |
62,064,725 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2407:Slc4a10
|
UTSW |
2 |
62,143,687 (GRCm39) |
missense |
probably benign |
|
|
R4067:Slc4a10
|
UTSW |
2 |
61,876,989 (GRCm39) |
start codon destroyed |
probably benign |
0.00 |
|
R4184:Slc4a10
|
UTSW |
2 |
62,147,786 (GRCm39) |
intron |
probably benign |
|
|
R4255:Slc4a10
|
UTSW |
2 |
62,112,280 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4282:Slc4a10
|
UTSW |
2 |
62,074,687 (GRCm39) |
splice site |
probably null |
|
|
R4296:Slc4a10
|
UTSW |
2 |
62,064,772 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4361:Slc4a10
|
UTSW |
2 |
62,073,729 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4596:Slc4a10
|
UTSW |
2 |
62,127,202 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4709:Slc4a10
|
UTSW |
2 |
62,087,861 (GRCm39) |
missense |
probably null |
1.00 |
|
R4755:Slc4a10
|
UTSW |
2 |
62,127,332 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4836:Slc4a10
|
UTSW |
2 |
62,098,531 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4841:Slc4a10
|
UTSW |
2 |
62,087,939 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R4998:Slc4a10
|
UTSW |
2 |
62,074,783 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5069:Slc4a10
|
UTSW |
2 |
62,097,915 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5223:Slc4a10
|
UTSW |
2 |
62,083,710 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5244:Slc4a10
|
UTSW |
2 |
62,119,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5386:Slc4a10
|
UTSW |
2 |
62,120,402 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5808:Slc4a10
|
UTSW |
2 |
62,080,816 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6007:Slc4a10
|
UTSW |
2 |
62,099,216 (GRCm39) |
missense |
probably benign |
0.44 |
|
R6009:Slc4a10
|
UTSW |
2 |
61,877,034 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6015:Slc4a10
|
UTSW |
2 |
62,059,046 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6103:Slc4a10
|
UTSW |
2 |
62,064,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6141:Slc4a10
|
UTSW |
2 |
62,041,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6193:Slc4a10
|
UTSW |
2 |
62,073,701 (GRCm39) |
splice site |
probably null |
|
|
R6217:Slc4a10
|
UTSW |
2 |
62,134,295 (GRCm39) |
missense |
probably benign |
0.27 |
|
R6280:Slc4a10
|
UTSW |
2 |
62,112,310 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6523:Slc4a10
|
UTSW |
2 |
62,117,305 (GRCm39) |
nonsense |
probably null |
|
|
R6643:Slc4a10
|
UTSW |
2 |
62,059,054 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R6660:Slc4a10
|
UTSW |
2 |
62,080,747 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R7008:Slc4a10
|
UTSW |
2 |
62,117,266 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7083:Slc4a10
|
UTSW |
2 |
62,064,839 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7223:Slc4a10
|
UTSW |
2 |
62,099,009 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7243:Slc4a10
|
UTSW |
2 |
62,134,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7449:Slc4a10
|
UTSW |
2 |
62,134,290 (GRCm39) |
missense |
probably benign |
|
|
R7621:Slc4a10
|
UTSW |
2 |
62,080,823 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7692:Slc4a10
|
UTSW |
2 |
62,134,308 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7742:Slc4a10
|
UTSW |
2 |
62,127,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7905:Slc4a10
|
UTSW |
2 |
62,098,495 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8179:Slc4a10
|
UTSW |
2 |
62,073,792 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R8528:Slc4a10
|
UTSW |
2 |
62,127,140 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8531:Slc4a10
|
UTSW |
2 |
62,097,851 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8772:Slc4a10
|
UTSW |
2 |
62,134,284 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9307:Slc4a10
|
UTSW |
2 |
62,083,662 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9531:Slc4a10
|
UTSW |
2 |
62,099,154 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9732:Slc4a10
|
UTSW |
2 |
62,135,086 (GRCm39) |
missense |
probably damaging |
0.97 |
|
U24488:Slc4a10
|
UTSW |
2 |
61,877,002 (GRCm39) |
missense |
probably benign |
0.05 |
|
X0019:Slc4a10
|
UTSW |
2 |
62,058,943 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Slc4a10
|
UTSW |
2 |
62,058,915 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Slc4a10
|
UTSW |
2 |
62,074,760 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Slc4a10
|
UTSW |
2 |
62,041,723 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAAGTCAATGAACCCTAGGTTATGG -3'
(R):5'- CTGCCTGTAGACTGAATTCTGAC -3'
Sequencing Primer
(F):5'- GTTCCACTTAATTGAATGTTCATGC -3'
(R):5'- CTGTAGACTGAATTCTGACACTTTTC -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation