Incidental Mutation 'R6063:Slc4a7'
| ID |
483932 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.925)
|
| Stock # |
R6063 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
7669819-7766808 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 14793964 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 1074
(V1074A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058313
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057015]
[ENSMUST00000223607]
[ENSMUST00000223695]
[ENSMUST00000223740]
[ENSMUST00000223761]
[ENSMUST00000223981]
[ENSMUST00000224049]
[ENSMUST00000224672]
[ENSMUST00000225238]
[ENSMUST00000224752]
[ENSMUST00000224222]
[ENSMUST00000225979]
[ENSMUST00000225630]
[ENSMUST00000226079]
[ENSMUST00000224333]
[ENSMUST00000225175]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000057015
AA Change: V1074A
PolyPhen 2
Score 0.604 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000058313
Gene: ENSMUSG00000021733
AA Change: V1074A
| 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
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223695
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223740
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223761
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223981
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224049
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224672
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225238
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224752
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224222
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224952
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225979
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225630
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226079
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224333
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225175
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.2%
|
| Validation Efficiency |
|
| 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: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
G |
A |
17: 24,483,318 (GRCm39) |
R1713C |
unknown |
Het |
| Ano6 |
C |
T |
15: 95,846,298 (GRCm39) |
T512I |
probably damaging |
Het |
| Ap3s1 |
T |
C |
18: 46,887,505 (GRCm39) |
V46A |
probably benign |
Het |
| Art2a |
C |
A |
7: 101,204,413 (GRCm39) |
V42F |
probably damaging |
Het |
| Asph |
C |
T |
4: 9,531,960 (GRCm39) |
V386M |
probably benign |
Het |
| B4galnt4 |
T |
A |
7: 140,644,643 (GRCm39) |
D179E |
probably benign |
Het |
| Bbx |
T |
C |
16: 50,071,730 (GRCm39) |
I232V |
probably benign |
Het |
| C1ql2 |
A |
G |
1: 120,269,321 (GRCm39) |
I159V |
probably benign |
Het |
| Ccar1 |
A |
G |
10: 62,612,496 (GRCm39) |
V223A |
possibly damaging |
Het |
| Cd2ap |
A |
T |
17: 43,136,802 (GRCm39) |
L277I |
probably benign |
Het |
| Cfap44 |
G |
A |
16: 44,250,255 (GRCm39) |
E778K |
probably benign |
Het |
| Chd3 |
A |
T |
11: 69,240,063 (GRCm39) |
D1626E |
probably benign |
Het |
| Crocc |
C |
T |
4: 140,769,032 (GRCm39) |
G505S |
probably benign |
Het |
| Crocc |
T |
A |
4: 140,773,851 (GRCm39) |
Q72L |
probably damaging |
Het |
| Drosha |
T |
C |
15: 12,834,156 (GRCm39) |
|
probably benign |
Het |
| Eps8l1 |
T |
A |
7: 4,474,296 (GRCm39) |
S256T |
possibly damaging |
Het |
| F830045P16Rik |
A |
G |
2: 129,316,310 (GRCm39) |
V133A |
probably damaging |
Het |
| Fermt2 |
A |
T |
14: 45,697,338 (GRCm39) |
M671K |
possibly damaging |
Het |
| Fhdc1 |
G |
A |
3: 84,353,336 (GRCm39) |
L630F |
probably benign |
Het |
| Gon4l |
T |
C |
3: 88,807,306 (GRCm39) |
S1667P |
probably damaging |
Het |
| Greb1l |
A |
C |
18: 10,557,340 (GRCm39) |
K1780T |
probably damaging |
Het |
| H2-Q10 |
C |
T |
17: 35,781,026 (GRCm39) |
T8M |
probably benign |
Het |
| Hmcn2 |
A |
T |
2: 31,324,725 (GRCm39) |
T4215S |
probably benign |
Het |
| I0C0044D17Rik |
G |
A |
4: 98,708,576 (GRCm39) |
|
probably benign |
Het |
| Ifi204 |
A |
G |
1: 173,579,223 (GRCm39) |
F541L |
probably benign |
Het |
| Igkv6-17 |
C |
T |
6: 70,348,764 (GRCm39) |
A45V |
probably damaging |
Het |
| Intu |
G |
A |
3: 40,608,524 (GRCm39) |
A161T |
probably damaging |
Het |
| Kcnmb2 |
A |
G |
3: 32,233,141 (GRCm39) |
Y73C |
probably damaging |
Het |
| Lrit1 |
T |
C |
14: 36,776,945 (GRCm39) |
F22L |
probably benign |
Het |
| Lrp1b |
A |
T |
2: 41,174,156 (GRCm39) |
C699* |
probably null |
Het |
| Lrrc8d |
A |
G |
5: 105,959,992 (GRCm39) |
D134G |
probably benign |
Het |
| Map1b |
T |
C |
13: 99,567,645 (GRCm39) |
D1692G |
unknown |
Het |
| Met |
C |
T |
6: 17,491,967 (GRCm39) |
S243F |
probably damaging |
Het |
| Mlph |
C |
A |
1: 90,855,882 (GRCm39) |
H96Q |
probably damaging |
Het |
| Mycbp2 |
A |
T |
14: 103,372,582 (GRCm39) |
V4088D |
probably damaging |
Het |
| Nampt |
T |
A |
12: 32,898,658 (GRCm39) |
S425T |
probably damaging |
Het |
| Nts |
G |
A |
10: 102,320,856 (GRCm39) |
H78Y |
probably benign |
Het |
| Nxf1 |
A |
G |
19: 8,745,151 (GRCm39) |
E467G |
possibly damaging |
Het |
| Olfml2a |
C |
A |
2: 38,841,155 (GRCm39) |
D230E |
probably benign |
Het |
| Or4b13 |
C |
A |
2: 90,082,771 (GRCm39) |
C187F |
probably benign |
Het |
| Or52n2c |
C |
T |
7: 104,574,599 (GRCm39) |
R124H |
probably benign |
Het |
| Pcsk5 |
A |
G |
19: 17,432,045 (GRCm39) |
|
probably null |
Het |
| Pde5a |
C |
A |
3: 122,618,574 (GRCm39) |
T629K |
probably benign |
Het |
| Plcb3 |
G |
T |
19: 6,940,202 (GRCm39) |
R462S |
possibly damaging |
Het |
| Pnpla6 |
T |
A |
8: 3,574,156 (GRCm39) |
M469K |
probably benign |
Het |
| Pram1 |
A |
T |
17: 33,860,386 (GRCm39) |
K318* |
probably null |
Het |
| Prkd1 |
T |
C |
12: 50,388,826 (GRCm39) |
R906G |
probably benign |
Het |
| Ptprh |
T |
A |
7: 4,576,361 (GRCm39) |
T300S |
possibly damaging |
Het |
| Rdh16f2 |
A |
G |
10: 127,712,743 (GRCm39) |
Y247C |
probably benign |
Het |
| Rimbp3 |
A |
G |
16: 17,028,781 (GRCm39) |
E735G |
probably damaging |
Het |
| Sall3 |
G |
A |
18: 81,017,470 (GRCm39) |
P153S |
possibly damaging |
Het |
| Samd4b |
T |
A |
7: 28,123,056 (GRCm39) |
M1L |
possibly damaging |
Het |
| Septin12 |
T |
C |
16: 4,810,127 (GRCm39) |
E136G |
probably damaging |
Het |
| Shpk |
A |
T |
11: 73,104,270 (GRCm39) |
K140* |
probably null |
Het |
| Sidt1 |
G |
T |
16: 44,079,829 (GRCm39) |
F608L |
probably benign |
Het |
| Skint5 |
A |
G |
4: 113,347,842 (GRCm39) |
Y1300H |
probably benign |
Het |
| Slc22a28 |
G |
A |
19: 8,094,386 (GRCm39) |
P212S |
probably benign |
Het |
| Slc22a5 |
A |
T |
11: 53,758,359 (GRCm39) |
F480L |
possibly damaging |
Het |
| Slc35e2 |
C |
T |
4: 155,694,483 (GRCm39) |
P10L |
probably benign |
Het |
| Slc3a1 |
C |
T |
17: 85,335,951 (GRCm39) |
P31L |
probably benign |
Het |
| Snx2 |
C |
T |
18: 53,342,697 (GRCm39) |
Q254* |
probably null |
Het |
| Sox30 |
G |
A |
11: 45,882,769 (GRCm39) |
V600I |
probably benign |
Het |
| Svil |
T |
G |
18: 5,106,724 (GRCm39) |
V1855G |
probably damaging |
Het |
| Tdpoz9 |
A |
G |
3: 93,957,408 (GRCm39) |
F7L |
probably benign |
Het |
| Tdrd7 |
A |
G |
4: 46,005,486 (GRCm39) |
T431A |
probably benign |
Het |
| Tenm2 |
A |
T |
11: 36,054,544 (GRCm39) |
|
probably null |
Het |
| Tigar |
A |
G |
6: 127,068,164 (GRCm39) |
S85P |
probably benign |
Het |
| Tnr |
A |
C |
1: 159,740,254 (GRCm39) |
M1143L |
probably benign |
Het |
| Trio |
G |
T |
15: 27,891,465 (GRCm39) |
Q429K |
possibly damaging |
Het |
| Urb1 |
T |
C |
16: 90,585,985 (GRCm39) |
I452M |
probably benign |
Het |
| Uroc1 |
A |
T |
6: 90,324,910 (GRCm39) |
E461V |
probably benign |
Het |
| Vax1 |
C |
A |
19: 59,157,036 (GRCm39) |
R99L |
unknown |
Het |
| Xab2 |
A |
T |
8: 3,663,051 (GRCm39) |
I510N |
possibly damaging |
Het |
| Zbtb34 |
A |
T |
2: 33,301,842 (GRCm39) |
I233K |
possibly damaging |
Het |
| Zbtb47 |
A |
G |
9: 121,592,598 (GRCm39) |
E306G |
probably benign |
Het |
| Zfp27 |
A |
G |
7: 29,593,727 (GRCm39) |
F746S |
probably damaging |
Het |
| Zfp719 |
C |
T |
7: 43,239,050 (GRCm39) |
Q213* |
probably null |
Het |
| Zswim6 |
T |
C |
13: 107,865,112 (GRCm39) |
|
noncoding transcript |
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 |
|
|
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 |
|
R7099:Slc4a7
|
UTSW |
14 |
14,733,750 (GRCm38) |
missense |
probably damaging |
1.00 |
|
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'- CAACACTGCATGGTTTTGGG -3'
(R):5'- GTTGGTTTTGTCCAGCAAAGAG -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation