Incidental Mutation 'R9568:Slc4a7'
| ID |
721790 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.925)
|
| Stock # |
R9568 (G1)
|
| Quality Score |
221.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
7669819-7766808 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 14796073 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058313
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057015]
[ENSMUST00000223607]
[ENSMUST00000223695]
[ENSMUST00000223740]
[ENSMUST00000223761]
[ENSMUST00000223981]
[ENSMUST00000224049]
[ENSMUST00000225979]
[ENSMUST00000225630]
[ENSMUST00000224333]
[ENSMUST00000224752]
[ENSMUST00000225175]
[ENSMUST00000224222]
[ENSMUST00000224672]
[ENSMUST00000225238]
[ENSMUST00000226079]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000057015
|
| SMART Domains |
Protein: ENSMUSP00000058313
Gene: ENSMUSG00000021733
| 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: ENSMUST00000225979
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225630
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224333
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224752
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225175
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224222
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224672
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225238
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226079
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224952
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam6a |
T |
G |
12: 113,508,020 (GRCm39) |
V131G |
possibly damaging |
Het |
| Agr3 |
G |
T |
12: 35,998,349 (GRCm39) |
M149I |
probably benign |
Het |
| Alox12b |
T |
A |
11: 69,054,836 (GRCm39) |
C280S |
possibly damaging |
Het |
| Amhr2 |
C |
A |
15: 102,353,954 (GRCm39) |
Q16K |
probably benign |
Het |
| Ank1 |
A |
G |
8: 23,609,381 (GRCm39) |
T1387A |
probably benign |
Het |
| B3gnt9 |
A |
C |
8: 105,980,203 (GRCm39) |
F395C |
probably damaging |
Het |
| BC048562 |
A |
G |
9: 108,322,905 (GRCm39) |
D80G |
probably damaging |
Het |
| Ccdc65 |
T |
A |
15: 98,620,819 (GRCm39) |
M438K |
possibly damaging |
Het |
| Ccz1 |
T |
C |
5: 143,938,251 (GRCm39) |
R240G |
probably damaging |
Het |
| Cish |
A |
T |
9: 107,177,593 (GRCm39) |
S90C |
probably benign |
Het |
| Col5a2 |
A |
T |
1: 45,430,998 (GRCm39) |
S881T |
possibly damaging |
Het |
| Col6a6 |
G |
A |
9: 105,657,926 (GRCm39) |
T762I |
possibly damaging |
Het |
| Cpa1 |
A |
G |
6: 30,640,060 (GRCm39) |
K49E |
probably benign |
Het |
| Cpb1 |
T |
C |
3: 20,320,697 (GRCm39) |
|
probably null |
Het |
| Csmd3 |
A |
G |
15: 48,150,942 (GRCm39) |
S483P |
probably damaging |
Het |
| Cul9 |
G |
A |
17: 46,831,044 (GRCm39) |
T1643I |
possibly damaging |
Het |
| Dock2 |
T |
C |
11: 34,599,638 (GRCm39) |
K314E |
possibly damaging |
Het |
| Elp1 |
G |
T |
4: 56,786,711 (GRCm39) |
P411T |
probably damaging |
Het |
| Fam186b |
T |
G |
15: 99,176,571 (GRCm39) |
K773T |
probably damaging |
Het |
| Fancl |
T |
A |
11: 26,418,672 (GRCm39) |
V259E |
probably benign |
Het |
| Fat4 |
T |
G |
3: 38,946,156 (GRCm39) |
I1683S |
probably damaging |
Het |
| Fcamr |
T |
A |
1: 130,732,356 (GRCm39) |
H114Q |
probably damaging |
Het |
| Fndc11 |
T |
C |
2: 180,864,046 (GRCm39) |
F284L |
probably damaging |
Het |
| Galns |
A |
G |
8: 123,311,649 (GRCm39) |
|
probably null |
Het |
| Gch1 |
A |
G |
14: 47,426,637 (GRCm39) |
S30P |
probably benign |
Het |
| Gcnt3 |
A |
G |
9: 69,942,346 (GRCm39) |
I74T |
probably benign |
Het |
| Gfral |
A |
T |
9: 76,104,383 (GRCm39) |
C210S |
probably damaging |
Het |
| Gm26566 |
G |
A |
4: 88,640,247 (GRCm39) |
A13T |
unknown |
Het |
| Gm9936 |
A |
T |
5: 114,995,166 (GRCm39) |
D150E |
unknown |
Het |
| Gsn |
C |
A |
2: 35,174,003 (GRCm39) |
D75E |
probably benign |
Het |
| Ighd2-7 |
T |
C |
12: 113,420,344 (GRCm39) |
T5A |
possibly damaging |
Het |
| Itsn1 |
G |
T |
16: 91,649,782 (GRCm39) |
R152L |
probably benign |
Het |
| Klhl3 |
A |
T |
13: 58,157,126 (GRCm39) |
L620Q |
probably damaging |
Het |
| Larp7-ps |
G |
T |
4: 92,079,915 (GRCm39) |
Y24* |
probably null |
Het |
| Lpl |
G |
A |
8: 69,340,235 (GRCm39) |
V77M |
probably benign |
Het |
| Lrfn3 |
A |
T |
7: 30,058,916 (GRCm39) |
H436Q |
probably benign |
Het |
| Lrp1b |
A |
G |
2: 40,569,227 (GRCm39) |
C3965R |
|
Het |
| Lrrc2 |
G |
A |
9: 110,799,228 (GRCm39) |
|
probably null |
Het |
| Manea |
C |
A |
4: 26,340,468 (GRCm39) |
D165Y |
probably damaging |
Het |
| Myom1 |
A |
T |
17: 71,394,476 (GRCm39) |
Q992L |
probably damaging |
Het |
| Naip5 |
T |
C |
13: 100,359,821 (GRCm39) |
T472A |
probably benign |
Het |
| Naip5 |
T |
A |
13: 100,356,338 (GRCm39) |
E1092D |
probably benign |
Het |
| Nyap1 |
C |
T |
5: 137,733,394 (GRCm39) |
W546* |
probably null |
Het |
| Olfml3 |
T |
G |
3: 103,644,282 (GRCm39) |
Y129S |
possibly damaging |
Het |
| Or4d5 |
A |
T |
9: 40,011,864 (GRCm39) |
D307E |
probably benign |
Het |
| Or5h19 |
C |
A |
16: 58,856,213 (GRCm39) |
V296F |
probably damaging |
Het |
| Or6z5 |
A |
G |
7: 6,477,334 (GRCm39) |
E75G |
probably damaging |
Het |
| Or9k2b |
T |
A |
10: 130,015,814 (GRCm39) |
I312F |
probably benign |
Het |
| P2rx6 |
A |
C |
16: 17,385,300 (GRCm39) |
|
probably null |
Het |
| Plxnb2 |
A |
T |
15: 89,045,160 (GRCm39) |
Y1095* |
probably null |
Het |
| Pmepa1 |
G |
A |
2: 173,069,794 (GRCm39) |
R216C |
probably damaging |
Het |
| Prodh |
A |
G |
16: 17,902,619 (GRCm39) |
|
probably benign |
Het |
| Ptch1 |
A |
G |
13: 63,689,987 (GRCm39) |
Y389H |
probably damaging |
Het |
| Ptgs2 |
G |
T |
1: 149,976,842 (GRCm39) |
|
probably null |
Het |
| Rbm14 |
A |
G |
19: 4,861,464 (GRCm39) |
Y25H |
probably damaging |
Het |
| Rfc2 |
T |
C |
5: 134,622,112 (GRCm39) |
L197P |
probably damaging |
Het |
| Rnf19b |
G |
T |
4: 128,967,397 (GRCm39) |
W313L |
probably damaging |
Het |
| Sh3rf1 |
G |
T |
8: 61,825,585 (GRCm39) |
A527S |
probably benign |
Het |
| Slc12a1 |
A |
G |
2: 125,032,218 (GRCm39) |
Y623C |
probably damaging |
Het |
| Slc25a54 |
T |
A |
3: 109,005,932 (GRCm39) |
W147R |
probably damaging |
Het |
| Slc4a1 |
A |
G |
11: 102,247,680 (GRCm39) |
L401P |
probably damaging |
Het |
| Stab2 |
A |
G |
10: 86,699,420 (GRCm39) |
Y1933H |
probably damaging |
Het |
| Supt5 |
A |
T |
7: 28,014,688 (GRCm39) |
V1037E |
probably damaging |
Het |
| Sv2b |
A |
T |
7: 74,775,428 (GRCm39) |
H466Q |
probably benign |
Het |
| Tmco5 |
G |
A |
2: 116,710,730 (GRCm39) |
E17K |
probably damaging |
Het |
| Tmem69 |
G |
A |
4: 116,411,972 (GRCm39) |
S12F |
probably damaging |
Het |
| Trp53 |
C |
A |
11: 69,478,392 (GRCm39) |
Y100* |
probably null |
Het |
| Trpm7 |
A |
T |
2: 126,664,510 (GRCm39) |
H956Q |
probably benign |
Het |
| Tsnaxip1 |
G |
A |
8: 106,569,135 (GRCm39) |
R495H |
probably benign |
Het |
| Vmn1r237 |
A |
T |
17: 21,534,777 (GRCm39) |
I167F |
probably benign |
Het |
| Vmn1r70 |
A |
G |
7: 10,368,292 (GRCm39) |
D260G |
probably benign |
Het |
| Zbtb38 |
G |
A |
9: 96,570,944 (GRCm39) |
H47Y |
probably damaging |
Het |
| Zfp184 |
G |
T |
13: 22,142,897 (GRCm39) |
C201F |
probably benign |
Het |
| Zfp384 |
T |
A |
6: 125,001,796 (GRCm39) |
I147N |
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 |
|
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 |
|
|
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'- TTGGGAACAGGAAAGGGCTC -3'
(R):5'- CTGTTATACATAATGGCATGGCA -3'
Sequencing Primer
(F):5'- GTGGGGGTGAATATGATCAAAATAC -3'
(R):5'- CAATGAAGTTTCAGCATCCA -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation