Incidental Mutation 'R7099:Slc4a7'
| ID |
550725 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc4a7
|
| Ensembl Gene |
ENSMUSG00000021733 |
| Gene Name |
solute carrier family 4, sodium bicarbonate cotransporter, member 7 |
| Synonyms |
NBC3, NBCn1, E430014N10Rik |
| MMRRC Submission |
045191-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.898)
|
| Stock # |
R7099 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
7669819-7766808 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 14733750 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 53
(H53Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058313
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057015]
[ENSMUST00000223607]
[ENSMUST00000223695]
[ENSMUST00000223740]
[ENSMUST00000223761]
[ENSMUST00000223981]
[ENSMUST00000224049]
[ENSMUST00000224222]
[ENSMUST00000224333]
[ENSMUST00000224672]
[ENSMUST00000224752]
[ENSMUST00000225175]
[ENSMUST00000225232]
[ENSMUST00000225238]
[ENSMUST00000225630]
[ENSMUST00000225979]
[ENSMUST00000226079]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000057015
AA Change: H53Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000058313
Gene: ENSMUSG00000021733
AA Change: H53Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
57 |
89 |
N/A |
INTRINSIC |
|
Pfam:Band_3_cyto
|
146 |
413 |
1.4e-110 |
PFAM |
|
Pfam:HCO3_cotransp
|
456 |
969 |
1.6e-242 |
PFAM |
|
transmembrane domain
|
977 |
999 |
N/A |
INTRINSIC |
|
coiled coil region
|
1021 |
1050 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223607
AA Change: H53Q
PolyPhen 2
Score 0.395 (Sensitivity: 0.90; Specificity: 0.89)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000223695
AA Change: H59Q
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223740
AA Change: H59Q
PolyPhen 2
Score 0.307 (Sensitivity: 0.90; Specificity: 0.89)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000223761
AA Change: H53Q
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000223981
AA Change: H53Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000224049
AA Change: H59Q
PolyPhen 2
Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224222
AA Change: H53Q
PolyPhen 2
Score 0.395 (Sensitivity: 0.90; Specificity: 0.89)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224333
AA Change: H59Q
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224672
AA Change: H59Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000224752
AA Change: H58Q
PolyPhen 2
Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
|
| Predicted Effect |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000225175
AA Change: H53Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000225232
AA Change: H53Q
PolyPhen 2
Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225238
AA Change: H53Q
PolyPhen 2
Score 0.307 (Sensitivity: 0.90; Specificity: 0.89)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000225630
AA Change: H53Q
PolyPhen 2
Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000225979
AA Change: H53Q
PolyPhen 2
Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226079
AA Change: H53Q
PolyPhen 2
Score 0.307 (Sensitivity: 0.90; Specificity: 0.89)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (65/65) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus encodes a sodium bicarbonate cotransporter. The encoded transmembrane protein appears to transport sodium and bicarbonate ions in a 1:1 ratio, and is thus considered an electroneutral cotransporter. The encoded protein likely plays a critical role in regulation of intracellular pH involved in visual and auditory sensory transmission. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Apr 2012]
PHENOTYPE: Mice homozygous for a disruption at this locus display defects of the auditory and visual systems similar to those observed in patients with Ushers syndrome. Mice homozygous for a gene trap allele exhibit disruption in sodium/bicarbonate function that impacts vasodilation and hypertension. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930453N24Rik |
C |
T |
16: 64,591,151 (GRCm39) |
A26T |
probably benign |
Het |
| Acly |
T |
C |
11: 100,383,117 (GRCm39) |
|
probably null |
Het |
| Adam29 |
A |
C |
8: 56,324,439 (GRCm39) |
L672V |
probably benign |
Het |
| Adgrf1 |
T |
C |
17: 43,621,493 (GRCm39) |
S577P |
probably benign |
Het |
| Ankar |
T |
C |
1: 72,682,452 (GRCm39) |
K1371R |
probably damaging |
Het |
| Arid5b |
T |
C |
10: 67,934,009 (GRCm39) |
D631G |
probably damaging |
Het |
| Brpf3 |
T |
C |
17: 29,025,611 (GRCm39) |
V228A |
probably benign |
Het |
| C3 |
T |
C |
17: 57,513,276 (GRCm39) |
D1457G |
probably benign |
Het |
| Calr4 |
A |
T |
4: 109,099,426 (GRCm39) |
N143I |
probably benign |
Het |
| Catsperd |
T |
G |
17: 56,935,811 (GRCm39) |
|
probably null |
Het |
| Cobl |
T |
A |
11: 12,246,540 (GRCm39) |
H154L |
|
Het |
| Cryzl2 |
G |
A |
1: 157,316,154 (GRCm39) |
|
probably benign |
Het |
| Dennd1c |
A |
G |
17: 57,374,915 (GRCm39) |
|
probably null |
Het |
| Dnah8 |
A |
T |
17: 30,923,698 (GRCm39) |
D1222V |
possibly damaging |
Het |
| Errfi1 |
T |
C |
4: 150,951,225 (GRCm39) |
S218P |
probably benign |
Het |
| Fbxw27 |
G |
T |
9: 109,599,223 (GRCm39) |
T398N |
probably damaging |
Het |
| Fhod3 |
A |
G |
18: 25,223,219 (GRCm39) |
D855G |
probably benign |
Het |
| Flii |
A |
G |
11: 60,611,481 (GRCm39) |
V410A |
probably benign |
Het |
| Fsip2 |
C |
A |
2: 82,817,968 (GRCm39) |
P4567Q |
probably benign |
Het |
| Fxyd1 |
T |
G |
7: 30,752,458 (GRCm39) |
Q66H |
probably damaging |
Het |
| Gdi1 |
G |
A |
X: 73,350,461 (GRCm39) |
R55H |
probably benign |
Het |
| Gramd2b |
C |
T |
18: 56,625,017 (GRCm39) |
T370I |
probably benign |
Het |
| Kdr |
A |
G |
5: 76,104,993 (GRCm39) |
V1079A |
probably damaging |
Het |
| Lmx1a |
G |
A |
1: 167,658,115 (GRCm39) |
G166D |
probably damaging |
Het |
| Lrrfip2 |
A |
G |
9: 111,002,176 (GRCm39) |
R92G |
probably benign |
Het |
| Map1a |
T |
A |
2: 121,130,998 (GRCm39) |
S605T |
probably benign |
Het |
| Megf8 |
A |
T |
7: 25,045,945 (GRCm39) |
D1496V |
probably damaging |
Het |
| Mgam |
T |
C |
6: 40,638,650 (GRCm39) |
V461A |
probably benign |
Het |
| Muc6 |
AGGCGCAGAAACCCTGGC |
AGGC |
7: 141,214,363 (GRCm39) |
|
probably null |
Het |
| Nav3 |
T |
C |
10: 109,539,195 (GRCm39) |
T2069A |
probably benign |
Het |
| Nbeal2 |
A |
T |
9: 110,474,506 (GRCm39) |
|
probably null |
Het |
| Ndst1 |
A |
G |
18: 60,828,572 (GRCm39) |
F661L |
possibly damaging |
Het |
| Neu3 |
G |
A |
7: 99,463,027 (GRCm39) |
T232M |
possibly damaging |
Het |
| Nf1 |
T |
C |
11: 79,461,156 (GRCm39) |
S741P |
probably benign |
Het |
| Nr5a1 |
G |
T |
2: 38,584,148 (GRCm39) |
L424M |
probably damaging |
Het |
| Nuf2 |
G |
A |
1: 169,333,641 (GRCm39) |
T345M |
probably benign |
Het |
| Or4d10c |
A |
G |
19: 12,065,530 (GRCm39) |
F209L |
possibly damaging |
Het |
| Or4k51 |
A |
T |
2: 111,585,421 (GRCm39) |
T276S |
probably benign |
Het |
| Or6d12 |
T |
A |
6: 116,493,721 (GRCm39) |
*328R |
probably null |
Het |
| Or8g33 |
G |
A |
9: 39,337,599 (GRCm39) |
T256I |
probably benign |
Het |
| Otud7a |
A |
G |
7: 63,407,203 (GRCm39) |
E502G |
possibly damaging |
Het |
| Otulin |
A |
G |
15: 27,608,832 (GRCm39) |
L237S |
probably damaging |
Het |
| Pias1 |
A |
G |
9: 62,788,427 (GRCm39) |
M79T |
|
Het |
| Prom2 |
T |
C |
2: 127,381,698 (GRCm39) |
E206G |
probably benign |
Het |
| Scarb1 |
A |
T |
5: 125,381,414 (GRCm39) |
N43K |
probably damaging |
Het |
| Sdad1 |
A |
G |
5: 92,441,832 (GRCm39) |
V365A |
possibly damaging |
Het |
| Sdk2 |
T |
C |
11: 113,725,731 (GRCm39) |
T1173A |
probably damaging |
Het |
| Sidt1 |
A |
G |
16: 44,063,860 (GRCm39) |
S803P |
probably damaging |
Het |
| Slc45a1 |
A |
T |
4: 150,714,030 (GRCm39) |
D738E |
probably benign |
Het |
| Spata22 |
T |
C |
11: 73,231,225 (GRCm39) |
F160L |
probably benign |
Het |
| Stag1 |
G |
A |
9: 100,826,879 (GRCm39) |
V949I |
probably benign |
Het |
| Syne1 |
T |
C |
10: 5,073,744 (GRCm39) |
S1200G |
probably benign |
Het |
| Tbc1d9 |
A |
G |
8: 83,981,520 (GRCm39) |
E729G |
probably damaging |
Het |
| Tcaf2 |
C |
T |
6: 42,607,275 (GRCm39) |
M226I |
probably benign |
Het |
| Tep1 |
T |
C |
14: 51,081,944 (GRCm39) |
|
probably null |
Het |
| Tigd2 |
C |
A |
6: 59,187,166 (GRCm39) |
T11K |
probably damaging |
Het |
| Trappc9 |
A |
G |
15: 72,565,468 (GRCm39) |
V941A |
probably benign |
Het |
| Ugt2b37 |
A |
G |
5: 87,388,848 (GRCm39) |
M455T |
probably benign |
Het |
| Usp42 |
A |
T |
5: 143,712,400 (GRCm39) |
S95T |
probably damaging |
Het |
| Usp44 |
T |
C |
10: 93,686,049 (GRCm39) |
I488T |
possibly damaging |
Het |
| Vmn1r73 |
T |
C |
7: 11,490,320 (GRCm39) |
I46T |
probably damaging |
Het |
| Vmn2r34 |
A |
T |
7: 7,675,540 (GRCm39) |
I616N |
probably damaging |
Het |
| Zfp352 |
A |
G |
4: 90,113,117 (GRCm39) |
K419R |
probably benign |
Het |
| Zfp595 |
T |
A |
13: 67,465,711 (GRCm39) |
H187L |
probably damaging |
Het |
| Zfp804b |
A |
T |
5: 6,822,161 (GRCm39) |
S301T |
probably benign |
Het |
| Zzef1 |
T |
C |
11: 72,763,475 (GRCm39) |
V1374A |
possibly damaging |
Het |
|
| Other mutations in Slc4a7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00974:Slc4a7
|
APN |
14 |
14,760,292 (GRCm38) |
missense |
probably benign |
0.18 |
|
IGL01468:Slc4a7
|
APN |
14 |
14,737,480 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01863:Slc4a7
|
APN |
14 |
14,762,430 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL03122:Slc4a7
|
APN |
14 |
14,782,040 (GRCm38) |
splice site |
probably benign |
|
|
R0020:Slc4a7
|
UTSW |
14 |
14,796,108 (GRCm38) |
missense |
probably benign |
|
|
R0403:Slc4a7
|
UTSW |
14 |
14,766,808 (GRCm38) |
missense |
probably benign |
0.02 |
|
R0410:Slc4a7
|
UTSW |
14 |
14,738,299 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0624:Slc4a7
|
UTSW |
14 |
14,794,059 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0631:Slc4a7
|
UTSW |
14 |
14,757,382 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1128:Slc4a7
|
UTSW |
14 |
14,733,832 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1556:Slc4a7
|
UTSW |
14 |
14,778,872 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1672:Slc4a7
|
UTSW |
14 |
14,760,247 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R1711:Slc4a7
|
UTSW |
14 |
14,765,709 (GRCm38) |
missense |
probably benign |
0.45 |
|
R1870:Slc4a7
|
UTSW |
14 |
14,737,509 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1939:Slc4a7
|
UTSW |
14 |
14,748,581 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2012:Slc4a7
|
UTSW |
14 |
14,733,727 (GRCm38) |
nonsense |
probably null |
|
|
R2042:Slc4a7
|
UTSW |
14 |
14,737,386 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2064:Slc4a7
|
UTSW |
14 |
14,733,773 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2404:Slc4a7
|
UTSW |
14 |
14,733,733 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2880:Slc4a7
|
UTSW |
14 |
14,773,277 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3729:Slc4a7
|
UTSW |
14 |
14,729,276 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4368:Slc4a7
|
UTSW |
14 |
14,733,775 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4395:Slc4a7
|
UTSW |
14 |
14,765,665 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4432:Slc4a7
|
UTSW |
14 |
14,757,323 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4592:Slc4a7
|
UTSW |
14 |
14,778,850 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4705:Slc4a7
|
UTSW |
14 |
14,733,856 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4743:Slc4a7
|
UTSW |
14 |
14,796,073 (GRCm38) |
splice site |
probably null |
|
|
R4765:Slc4a7
|
UTSW |
14 |
14,762,414 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4831:Slc4a7
|
UTSW |
14 |
14,772,699 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4845:Slc4a7
|
UTSW |
14 |
14,733,803 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4880:Slc4a7
|
UTSW |
14 |
14,757,342 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4948:Slc4a7
|
UTSW |
14 |
14,771,283 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R5348:Slc4a7
|
UTSW |
14 |
14,786,310 (GRCm38) |
missense |
probably benign |
0.02 |
|
R5385:Slc4a7
|
UTSW |
14 |
14,773,345 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R5418:Slc4a7
|
UTSW |
14 |
14,760,280 (GRCm38) |
missense |
probably benign |
0.25 |
|
R5480:Slc4a7
|
UTSW |
14 |
14,782,138 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5842:Slc4a7
|
UTSW |
14 |
14,778,866 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5919:Slc4a7
|
UTSW |
14 |
14,791,092 (GRCm38) |
missense |
probably benign |
|
|
R6063:Slc4a7
|
UTSW |
14 |
14,793,964 (GRCm38) |
missense |
possibly damaging |
0.60 |
|
R6065:Slc4a7
|
UTSW |
14 |
14,739,836 (GRCm38) |
missense |
probably benign |
0.29 |
|
R6549:Slc4a7
|
UTSW |
14 |
14,748,564 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6845:Slc4a7
|
UTSW |
14 |
14,775,000 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6870:Slc4a7
|
UTSW |
14 |
14,733,846 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6881:Slc4a7
|
UTSW |
14 |
14,737,452 (GRCm38) |
missense |
probably benign |
0.43 |
|
R6962:Slc4a7
|
UTSW |
14 |
14,746,021 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7180:Slc4a7
|
UTSW |
14 |
14,765,580 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7346:Slc4a7
|
UTSW |
14 |
14,775,000 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7378:Slc4a7
|
UTSW |
14 |
14,757,421 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7646:Slc4a7
|
UTSW |
14 |
14,773,348 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7647:Slc4a7
|
UTSW |
14 |
14,773,348 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7648:Slc4a7
|
UTSW |
14 |
14,773,348 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7650:Slc4a7
|
UTSW |
14 |
14,773,348 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7857:Slc4a7
|
UTSW |
14 |
14,772,624 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7892:Slc4a7
|
UTSW |
14 |
14,773,348 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8124:Slc4a7
|
UTSW |
14 |
14,729,211 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R8225:Slc4a7
|
UTSW |
14 |
14,738,224 (GRCm38) |
nonsense |
probably null |
|
|
R8354:Slc4a7
|
UTSW |
14 |
14,786,313 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8998:Slc4a7
|
UTSW |
14 |
14,775,346 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9016:Slc4a7
|
UTSW |
14 |
14,773,241 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9043:Slc4a7
|
UTSW |
14 |
14,775,048 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9139:Slc4a7
|
UTSW |
14 |
14,796,115 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9342:Slc4a7
|
UTSW |
14 |
14,772,541 (GRCm38) |
nonsense |
probably null |
|
|
R9383:Slc4a7
|
UTSW |
14 |
14,766,803 (GRCm38) |
nonsense |
probably null |
|
|
R9568:Slc4a7
|
UTSW |
14 |
14,796,073 (GRCm38) |
splice site |
probably null |
|
|
R9798:Slc4a7
|
UTSW |
14 |
14,782,056 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0067:Slc4a7
|
UTSW |
14 |
14,771,276 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGTGAAGACAGCTATTGTTGC -3'
(R):5'- ACACTCATGCACCAGATTCTG -3'
Sequencing Primer
(F):5'- GAAGACAGCTATTGTTGCCATCG -3'
(R):5'- TAGACCCCGCTGTAGAAATGCTTG -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation