Incidental Mutation 'R6845:Slc4a7'
| ID |
534732 |
| 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 |
044951-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.898)
|
| Stock # |
R6845 (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 14775000 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 810
(M810K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153323
(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: M810K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000058313
Gene: ENSMUSG00000021733
AA Change: M810K
| 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: M922K
PolyPhen 2
Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000223695
AA Change: M823K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000223740
AA Change: M816K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000223761
AA Change: M933K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000223981
AA Change: M935K
PolyPhen 2
Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224049
AA Change: M803K
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000224222
AA Change: M922K
PolyPhen 2
Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224333
AA Change: M941K
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000224672
AA Change: M926K
PolyPhen 2
Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224752
AA Change: M927K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000225175
AA Change: M920K
PolyPhen 2
Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000225232
AA Change: M797K
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000225238
AA Change: M830K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000225630
AA Change: M797K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000225979
AA Change: M817K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000226079
AA Change: M810K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.9682 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
95% (53/56) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm2 |
C |
A |
3: 59,659,539 (GRCm39) |
P331T |
probably damaging |
Het |
| Adam6a |
T |
C |
12: 113,507,717 (GRCm39) |
L30P |
possibly damaging |
Het |
| Cabin1 |
G |
A |
10: 75,557,342 (GRCm39) |
R1099W |
probably damaging |
Het |
| Cdon |
C |
T |
9: 35,398,252 (GRCm39) |
Q990* |
probably null |
Het |
| Cit |
T |
A |
5: 116,122,947 (GRCm39) |
L1421Q |
probably damaging |
Het |
| Cplane1 |
T |
C |
15: 8,251,388 (GRCm39) |
S1887P |
possibly damaging |
Het |
| Ddx27 |
T |
C |
2: 166,864,016 (GRCm39) |
C242R |
probably damaging |
Het |
| Dlgap5 |
A |
T |
14: 47,654,020 (GRCm39) |
V3E |
possibly damaging |
Het |
| Dnah6 |
A |
T |
6: 73,110,525 (GRCm39) |
F1687I |
probably damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Duoxa1 |
A |
T |
2: 122,135,672 (GRCm39) |
Y142* |
probably null |
Het |
| F3 |
A |
G |
3: 121,526,124 (GRCm39) |
K229R |
probably benign |
Het |
| Fance |
A |
G |
17: 28,536,565 (GRCm39) |
R42G |
probably damaging |
Het |
| Foxs1 |
T |
C |
2: 152,774,619 (GRCm39) |
K145E |
probably benign |
Het |
| Gpd1l |
T |
C |
9: 114,762,785 (GRCm39) |
M1V |
probably null |
Het |
| Gpr149 |
T |
A |
3: 62,511,942 (GRCm39) |
H19L |
possibly damaging |
Het |
| Hmgcs1 |
T |
C |
13: 120,162,674 (GRCm39) |
Y213H |
probably damaging |
Het |
| Htra1 |
C |
A |
7: 130,538,021 (GRCm39) |
|
probably benign |
Het |
| Il20ra |
A |
G |
10: 19,635,059 (GRCm39) |
I433M |
probably benign |
Het |
| Il3ra |
G |
C |
14: 14,346,517 (GRCm38) |
|
probably null |
Het |
| Kif11 |
C |
T |
19: 37,392,565 (GRCm39) |
L499F |
probably damaging |
Het |
| Kifc3 |
A |
G |
8: 95,835,307 (GRCm39) |
M189T |
probably benign |
Het |
| Klk1b3 |
G |
A |
7: 43,851,127 (GRCm39) |
A187T |
probably benign |
Het |
| Klre1 |
T |
C |
6: 129,561,202 (GRCm39) |
S188P |
probably damaging |
Het |
| Krtap4-13 |
G |
A |
11: 99,700,192 (GRCm39) |
|
probably benign |
Het |
| Lgi4 |
A |
T |
7: 30,760,510 (GRCm39) |
T22S |
probably damaging |
Het |
| Lrp10 |
C |
T |
14: 54,707,145 (GRCm39) |
R661C |
probably damaging |
Het |
| Lrrtm1 |
A |
G |
6: 77,220,864 (GRCm39) |
D107G |
probably benign |
Het |
| Mad1l1 |
C |
A |
5: 139,994,924 (GRCm39) |
A701S |
probably damaging |
Het |
| Mia2 |
T |
A |
12: 59,231,064 (GRCm39) |
Y1237* |
probably null |
Het |
| Mpp4 |
T |
C |
1: 59,183,963 (GRCm39) |
D278G |
probably benign |
Het |
| Myh6 |
G |
A |
14: 55,182,206 (GRCm39) |
S1734L |
probably benign |
Het |
| Nbeal1 |
C |
T |
1: 60,320,469 (GRCm39) |
R2021* |
probably null |
Het |
| Nol4l |
T |
C |
2: 153,258,582 (GRCm39) |
T602A |
probably benign |
Het |
| Or5b109 |
T |
A |
19: 13,211,997 (GRCm39) |
C128S |
probably damaging |
Het |
| Pcdh15 |
A |
T |
10: 74,466,465 (GRCm39) |
H894L |
probably benign |
Het |
| Phldb1 |
A |
T |
9: 44,627,359 (GRCm39) |
I362N |
probably damaging |
Het |
| Plcxd2 |
T |
A |
16: 45,830,223 (GRCm39) |
|
probably benign |
Het |
| Ppp1r13l |
G |
T |
7: 19,105,323 (GRCm39) |
R365L |
probably damaging |
Het |
| Pramel16 |
T |
C |
4: 143,676,394 (GRCm39) |
T237A |
probably benign |
Het |
| Rfc1 |
A |
T |
5: 65,468,459 (GRCm39) |
S85T |
possibly damaging |
Het |
| Rnf133 |
A |
G |
6: 23,649,341 (GRCm39) |
V196A |
possibly damaging |
Het |
| Shank3 |
T |
C |
15: 89,432,528 (GRCm39) |
V1016A |
probably benign |
Het |
| Slc22a21 |
T |
C |
11: 53,870,466 (GRCm39) |
D73G |
probably benign |
Het |
| Slc34a2 |
T |
A |
5: 53,226,511 (GRCm39) |
F545I |
probably damaging |
Het |
| Ss18 |
A |
T |
18: 14,788,221 (GRCm39) |
M83K |
possibly damaging |
Het |
| Tkfc |
T |
C |
19: 10,576,696 (GRCm39) |
R94G |
probably damaging |
Het |
| Tpp2 |
T |
A |
1: 44,017,668 (GRCm39) |
C757* |
probably null |
Het |
| Trav13n-4 |
T |
C |
14: 53,599,856 (GRCm39) |
L11P |
probably damaging |
Het |
| Trpm4 |
T |
C |
7: 44,971,753 (GRCm39) |
M138V |
possibly damaging |
Het |
| Utp18 |
G |
A |
11: 93,776,582 (GRCm39) |
|
probably benign |
Het |
| Vps33a |
A |
G |
5: 123,673,335 (GRCm39) |
V417A |
probably benign |
Het |
| Zfp207 |
C |
T |
11: 80,286,317 (GRCm39) |
|
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 |
|
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 |
|
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'- AGTCCCATGACAAGGGCATAC -3'
(R):5'- GCCAGCTCCTTTCTGAAGAG -3'
Sequencing Primer
(F):5'- TGACAAGGGCATACTTCTAGGCTC -3'
(R):5'- CAGCTCCTTTCTGAAGAGGGAAAC -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation