Incidental Mutation 'R7857:Slc4a7'
| ID |
607299 |
| 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 |
045910-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.898)
|
| Stock # |
R7857 (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 14772624 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 711
(V711A)
|
| 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 benign
Transcript: ENSMUST00000057015
AA Change: V711A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000058313
Gene: ENSMUSG00000021733
AA Change: V711A
| 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: V823A
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223695
AA Change: V724A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223740
AA Change: V717A
PolyPhen 2
Score 0.247 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223761
AA Change: V834A
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223981
AA Change: V836A
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224049
AA Change: V704A
PolyPhen 2
Score 0.251 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224222
AA Change: V823A
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224333
AA Change: V842A
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224672
AA Change: V827A
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224752
AA Change: V828A
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224952
AA Change: V750A
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225175
AA Change: V821A
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225232
AA Change: V698A
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225238
AA Change: V731A
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225630
AA Change: V698A
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225979
AA Change: V718A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226079
AA Change: V711A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam6b |
A |
T |
12: 113,454,104 (GRCm39) |
N307I |
probably benign |
Het |
| Ahnak |
G |
A |
19: 8,984,832 (GRCm39) |
V2039M |
probably damaging |
Het |
| Arhgef40 |
T |
A |
14: 52,226,212 (GRCm39) |
H85Q |
probably damaging |
Het |
| Ash1l |
T |
A |
3: 88,891,616 (GRCm39) |
L1165* |
probably null |
Het |
| Cck |
A |
G |
9: 121,322,514 (GRCm39) |
W100R |
probably damaging |
Het |
| Cdon |
A |
G |
9: 35,367,908 (GRCm39) |
R268G |
possibly damaging |
Het |
| Cldn12 |
T |
C |
5: 5,558,209 (GRCm39) |
T73A |
probably benign |
Het |
| Cnot1 |
ACG |
A |
8: 96,472,275 (GRCm39) |
|
probably null |
Het |
| Ctnnd2 |
A |
T |
15: 30,620,076 (GRCm39) |
T143S |
probably benign |
Het |
| Cyp2b13 |
T |
A |
7: 25,788,153 (GRCm39) |
L427Q |
possibly damaging |
Het |
| Dnah3 |
A |
T |
7: 119,550,927 (GRCm39) |
Y152N |
probably damaging |
Het |
| Dsg1b |
A |
T |
18: 20,529,520 (GRCm39) |
M322L |
probably benign |
Het |
| Efhc1 |
T |
C |
1: 21,045,226 (GRCm39) |
M414T |
probably benign |
Het |
| Elp3 |
G |
A |
14: 65,800,759 (GRCm39) |
T302M |
probably benign |
Het |
| Entpd6 |
T |
C |
2: 150,607,473 (GRCm39) |
|
probably null |
Het |
| Epb41l4a |
G |
T |
18: 34,139,098 (GRCm39) |
C13* |
probably null |
Het |
| Ephb6 |
T |
C |
6: 41,590,331 (GRCm39) |
S28P |
probably benign |
Het |
| Fbxo21 |
T |
C |
5: 118,126,878 (GRCm39) |
S210P |
probably benign |
Het |
| Gapvd1 |
T |
A |
2: 34,619,079 (GRCm39) |
E98V |
probably benign |
Het |
| Gcdh |
A |
G |
8: 85,619,093 (GRCm39) |
V157A |
probably damaging |
Het |
| Gm10638 |
G |
T |
8: 87,472,891 (GRCm39) |
R188L |
unknown |
Het |
| Grk3 |
T |
C |
5: 113,109,427 (GRCm39) |
T177A |
unknown |
Het |
| Gsc |
T |
G |
12: 104,438,424 (GRCm39) |
E148A |
probably damaging |
Het |
| Hacd4 |
C |
T |
4: 88,355,702 (GRCm39) |
G61E |
probably damaging |
Het |
| Herc3 |
G |
A |
6: 58,820,637 (GRCm39) |
W7* |
probably null |
Het |
| Il1rl2 |
T |
C |
1: 40,366,642 (GRCm39) |
Y59H |
probably benign |
Het |
| Irag1 |
T |
A |
7: 110,522,742 (GRCm39) |
K234* |
probably null |
Het |
| Kif1c |
A |
G |
11: 70,619,103 (GRCm39) |
T913A |
probably benign |
Het |
| Lipg |
C |
T |
18: 75,078,891 (GRCm39) |
G454R |
probably damaging |
Het |
| Lrrc74a |
A |
G |
12: 86,788,485 (GRCm39) |
D155G |
probably benign |
Het |
| Ltf |
A |
T |
9: 110,851,444 (GRCm39) |
I137F |
probably benign |
Het |
| Med19 |
T |
A |
2: 84,515,969 (GRCm39) |
M166K |
probably damaging |
Het |
| Mei1 |
A |
T |
15: 81,976,918 (GRCm39) |
Y167F |
not run |
Het |
| Ncaph |
A |
C |
2: 126,946,165 (GRCm39) |
D724E |
probably damaging |
Het |
| Neb |
T |
A |
2: 52,112,996 (GRCm39) |
D4266V |
probably damaging |
Het |
| Npffr1 |
G |
T |
10: 61,449,765 (GRCm39) |
W13L |
probably benign |
Het |
| Or51b6 |
A |
T |
7: 103,555,817 (GRCm39) |
H54L |
|
Het |
| Pcdha12 |
A |
T |
18: 37,155,468 (GRCm39) |
D729V |
probably benign |
Het |
| Pcdha7 |
A |
T |
18: 37,108,892 (GRCm39) |
E639V |
probably damaging |
Het |
| Pcdhb18 |
A |
T |
18: 37,624,364 (GRCm39) |
M565L |
probably benign |
Het |
| Plcd3 |
A |
T |
11: 102,968,760 (GRCm39) |
D310E |
probably benign |
Het |
| Pmm2 |
C |
G |
16: 8,460,632 (GRCm39) |
Q29E |
probably benign |
Het |
| Poli |
T |
G |
18: 70,642,225 (GRCm39) |
E658D |
probably benign |
Het |
| Prss22 |
G |
A |
17: 24,212,853 (GRCm39) |
R295C |
probably damaging |
Het |
| Psg26 |
A |
G |
7: 18,212,215 (GRCm39) |
I380T |
possibly damaging |
Het |
| Reep5 |
A |
T |
18: 34,505,521 (GRCm39) |
V50E |
possibly damaging |
Het |
| Rfx7 |
A |
G |
9: 72,500,605 (GRCm39) |
T122A |
possibly damaging |
Het |
| Robo1 |
A |
G |
16: 72,767,099 (GRCm39) |
N424D |
probably damaging |
Het |
| Smc4 |
T |
C |
3: 68,940,552 (GRCm39) |
V1162A |
possibly damaging |
Het |
| Snta1 |
A |
T |
2: 154,225,817 (GRCm39) |
L189H |
probably benign |
Het |
| Tmem121 |
C |
T |
12: 113,152,696 (GRCm39) |
R305C |
possibly damaging |
Het |
| Tmem68 |
A |
G |
4: 3,551,825 (GRCm39) |
V271A |
probably damaging |
Het |
| Tmx4 |
T |
G |
2: 134,481,582 (GRCm39) |
M114L |
probably benign |
Het |
| Trps1 |
T |
A |
15: 50,524,401 (GRCm39) |
R1176S |
probably damaging |
Het |
| Usp21 |
A |
G |
1: 171,114,335 (GRCm39) |
L63P |
probably benign |
Het |
| Vmn2r84 |
T |
A |
10: 130,226,738 (GRCm39) |
M367L |
probably benign |
Het |
| Wbp2nl |
A |
G |
15: 82,190,273 (GRCm39) |
N67S |
probably benign |
Het |
| Wdr35 |
T |
C |
12: 9,058,113 (GRCm39) |
|
probably null |
Het |
| Zfp236 |
G |
A |
18: 82,686,726 (GRCm39) |
Q271* |
probably null |
Het |
| Zfp831 |
T |
C |
2: 174,547,035 (GRCm39) |
V1406A |
probably benign |
Het |
| Zfp934 |
G |
A |
13: 62,665,361 (GRCm39) |
H459Y |
|
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 |
|
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'- GGTAAAGCAGGACATTGACATC -3'
(R):5'- GCCTCCTATGGGCTCAGATATG -3'
Sequencing Primer
(F):5'- GACATCTTAAATTCAACCATGTGC -3'
(R):5'- CCTGGAATTAGCTCTGTAGACCAG -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation