Incidental Mutation 'IGL01863:Slc4a7'
ID |
178420 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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: 0.898)
|
Stock # |
IGL01863
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
7669819-7766808 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 14762430 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 509
(C509S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152984
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057015]
[ENSMUST00000223607]
[ENSMUST00000223695]
[ENSMUST00000223740]
[ENSMUST00000223761]
[ENSMUST00000224672]
[ENSMUST00000225238]
[ENSMUST00000224333]
[ENSMUST00000225175]
[ENSMUST00000225232]
[ENSMUST00000223981]
[ENSMUST00000224752]
[ENSMUST00000224222]
[ENSMUST00000224049]
[ENSMUST00000225979]
[ENSMUST00000226079]
[ENSMUST00000225630]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000057015
AA Change: C489S
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000058313 Gene: ENSMUSG00000021733 AA Change: C489S
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 |
possibly damaging
Transcript: ENSMUST00000223607
AA Change: C601S
PolyPhen 2
Score 0.508 (Sensitivity: 0.88; Specificity: 0.90)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223695
AA Change: C502S
PolyPhen 2
Score 0.284 (Sensitivity: 0.91; Specificity: 0.88)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000223740
AA Change: C495S
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000223761
AA Change: C612S
PolyPhen 2
Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223771
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000224672
AA Change: C605S
PolyPhen 2
Score 0.508 (Sensitivity: 0.88; Specificity: 0.90)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000225238
AA Change: C509S
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224333
AA Change: C620S
PolyPhen 2
Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000225175
AA Change: C599S
PolyPhen 2
Score 0.508 (Sensitivity: 0.88; Specificity: 0.90)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000225232
AA Change: C476S
PolyPhen 2
Score 0.508 (Sensitivity: 0.88; Specificity: 0.90)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000223981
AA Change: C614S
PolyPhen 2
Score 0.508 (Sensitivity: 0.88; Specificity: 0.90)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000224752
AA Change: C606S
PolyPhen 2
Score 0.815 (Sensitivity: 0.84; Specificity: 0.93)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225496
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000224222
AA Change: C601S
PolyPhen 2
Score 0.508 (Sensitivity: 0.88; Specificity: 0.90)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000224049
AA Change: C482S
PolyPhen 2
Score 0.508 (Sensitivity: 0.88; Specificity: 0.90)
|
Predicted Effect |
unknown
Transcript: ENSMUST00000224952
AA Change: C528S
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224750
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225508
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000225979
AA Change: C496S
PolyPhen 2
Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000226079
AA Change: C489S
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000225630
AA Change: C476S
PolyPhen 2
Score 0.614 (Sensitivity: 0.87; Specificity: 0.91)
|
Coding Region Coverage |
|
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Afg1l |
T |
A |
10: 42,215,907 (GRCm39) |
I326F |
possibly damaging |
Het |
Aimp1 |
T |
C |
3: 132,377,853 (GRCm39) |
T171A |
probably benign |
Het |
Ash1l |
T |
A |
3: 88,892,813 (GRCm39) |
L1564* |
probably null |
Het |
Atp1a1 |
G |
T |
3: 101,499,205 (GRCm39) |
Y131* |
probably null |
Het |
Celsr2 |
T |
C |
3: 108,301,338 (GRCm39) |
E2686G |
probably benign |
Het |
Cyp4f18 |
A |
G |
8: 72,743,770 (GRCm39) |
V395A |
possibly damaging |
Het |
Dnaaf11 |
A |
T |
15: 66,268,823 (GRCm39) |
|
probably benign |
Het |
Ephb2 |
T |
C |
4: 136,387,088 (GRCm39) |
Q713R |
probably benign |
Het |
Esf1 |
A |
T |
2: 139,962,599 (GRCm39) |
M824K |
probably benign |
Het |
Fat4 |
T |
C |
3: 39,024,768 (GRCm39) |
|
probably benign |
Het |
Gem |
A |
G |
4: 11,705,980 (GRCm39) |
I23V |
probably benign |
Het |
Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
Gm5862 |
A |
C |
5: 26,227,769 (GRCm39) |
W41G |
probably benign |
Het |
Il6st |
A |
G |
13: 112,640,744 (GRCm39) |
E779G |
possibly damaging |
Het |
Lama3 |
T |
A |
18: 12,552,993 (GRCm39) |
|
probably benign |
Het |
Lipi |
A |
C |
16: 75,347,114 (GRCm39) |
I435R |
probably damaging |
Het |
Odad2 |
T |
C |
18: 7,222,617 (GRCm39) |
T551A |
probably damaging |
Het |
Omg |
C |
T |
11: 79,393,050 (GRCm39) |
M269I |
probably benign |
Het |
Optn |
A |
T |
2: 5,026,298 (GRCm39) |
|
probably benign |
Het |
Or5ae2 |
T |
C |
7: 84,505,619 (GRCm39) |
L14P |
probably damaging |
Het |
Pex1 |
A |
G |
5: 3,656,066 (GRCm39) |
T298A |
probably benign |
Het |
Rab27b |
T |
A |
18: 70,122,625 (GRCm39) |
R111S |
probably damaging |
Het |
Rhbdf1 |
T |
G |
11: 32,163,484 (GRCm39) |
E329D |
probably benign |
Het |
Slc2a13 |
T |
C |
15: 91,400,695 (GRCm39) |
I176V |
probably benign |
Het |
Slc30a1 |
T |
A |
1: 191,641,196 (GRCm39) |
C281S |
probably damaging |
Het |
Slfn9 |
T |
C |
11: 82,872,151 (GRCm39) |
R862G |
probably benign |
Het |
Tbc1d2 |
A |
G |
4: 46,607,064 (GRCm39) |
I782T |
possibly damaging |
Het |
Tent5c |
C |
T |
3: 100,379,980 (GRCm39) |
D259N |
probably benign |
Het |
Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
Vps33b |
T |
C |
7: 79,924,059 (GRCm39) |
|
probably null |
Het |
Wrap73 |
A |
G |
4: 154,229,790 (GRCm39) |
I54V |
probably benign |
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 |
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 |
|
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 |
|
Posted On |
2014-05-07 |