Incidental Mutation 'R9342:Slc4a7'
| ID |
707593 |
| 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: 0.898)
|
| Stock # |
R9342 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
7669819-7766808 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 14772541 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 683
(C683*)
|
| 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 null
Transcript: ENSMUST00000057015
AA Change: C683*
|
| SMART Domains |
Protein: ENSMUSP00000058313
Gene: ENSMUSG00000021733
AA Change: C683*
| 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 null
Transcript: ENSMUST00000223607
AA Change: C795*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000223695
AA Change: C696*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000223740
AA Change: C689*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000223761
AA Change: C806*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000223981
AA Change: C808*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000224049
AA Change: C676*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000224222
AA Change: C795*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000224333
AA Change: C814*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000224672
AA Change: C799*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000224752
AA Change: C800*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000224952
AA Change: C722*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000225175
AA Change: C793*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000225232
AA Change: C670*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000225238
AA Change: C703*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000225630
AA Change: C670*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000225979
AA Change: C690*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000226079
AA Change: C683*
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 84 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A330070K13Rik |
T |
C |
5: 130,407,876 (GRCm39) |
I112V |
unknown |
Het |
| Aars2 |
A |
G |
17: 45,818,002 (GRCm39) |
N75D |
possibly damaging |
Het |
| Abcf2 |
G |
A |
5: 24,778,475 (GRCm39) |
R228C |
probably benign |
Het |
| Agfg2 |
A |
G |
5: 137,652,114 (GRCm39) |
L415P |
probably benign |
Het |
| Alpi |
A |
G |
1: 87,026,386 (GRCm39) |
L535P |
unknown |
Het |
| Anxa9 |
T |
G |
3: 95,210,359 (GRCm39) |
T69P |
probably damaging |
Het |
| Arrb2 |
T |
A |
11: 70,327,463 (GRCm39) |
D79E |
probably benign |
Het |
| Bcat1 |
A |
G |
6: 144,994,332 (GRCm39) |
V55A |
probably benign |
Het |
| Cacna1c |
A |
G |
6: 119,034,335 (GRCm39) |
L64P |
|
Het |
| Cd247 |
A |
T |
1: 165,682,759 (GRCm39) |
D28V |
probably damaging |
Het |
| Celsr2 |
T |
A |
3: 108,320,442 (GRCm39) |
N790I |
probably damaging |
Het |
| Clrn1 |
C |
T |
3: 58,792,251 (GRCm39) |
V71I |
probably benign |
Het |
| Cmtr2 |
T |
C |
8: 110,949,078 (GRCm39) |
Y463H |
possibly damaging |
Het |
| Col6a6 |
T |
C |
9: 105,663,172 (GRCm39) |
T122A |
probably benign |
Het |
| Cubn |
T |
A |
2: 13,463,767 (GRCm39) |
D646V |
probably damaging |
Het |
| Dab2ip |
T |
A |
2: 35,613,105 (GRCm39) |
L1062Q |
possibly damaging |
Het |
| Dnajb4 |
T |
C |
3: 151,892,272 (GRCm39) |
N187S |
probably benign |
Het |
| Dock10 |
A |
T |
1: 80,570,360 (GRCm39) |
F365L |
probably benign |
Het |
| Erich6 |
G |
A |
3: 58,534,101 (GRCm39) |
Q309* |
probably null |
Het |
| Ext1 |
T |
C |
15: 53,208,524 (GRCm39) |
H79R |
probably benign |
Het |
| Fam187b |
T |
A |
7: 30,677,185 (GRCm39) |
C231* |
probably null |
Het |
| Fbh1 |
T |
C |
2: 11,754,414 (GRCm39) |
I775V |
probably benign |
Het |
| Fbxo15 |
T |
A |
18: 84,983,609 (GRCm39) |
M319K |
unknown |
Het |
| Fbxo9 |
A |
T |
9: 78,002,520 (GRCm39) |
M187K |
possibly damaging |
Het |
| Fer1l4 |
T |
C |
2: 155,877,196 (GRCm39) |
D1113G |
probably benign |
Het |
| Fsip2 |
A |
T |
2: 82,818,747 (GRCm39) |
T4827S |
possibly damaging |
Het |
| Gm49398 |
A |
T |
13: 61,435,478 (GRCm39) |
L7Q |
probably damaging |
Het |
| H2-M10.4 |
A |
T |
17: 36,771,285 (GRCm39) |
W298R |
probably damaging |
Het |
| Hoxd10 |
A |
G |
2: 74,522,982 (GRCm39) |
E220G |
probably benign |
Het |
| Hrh2 |
T |
G |
13: 54,368,222 (GRCm39) |
L66R |
probably damaging |
Het |
| Igf1r |
A |
G |
7: 67,844,746 (GRCm39) |
T840A |
probably benign |
Het |
| Iqca1 |
A |
G |
1: 90,072,688 (GRCm39) |
V64A |
probably damaging |
Het |
| Klc2 |
A |
G |
19: 5,158,659 (GRCm39) |
S612P |
probably benign |
Het |
| Klf15 |
A |
G |
6: 90,443,851 (GRCm39) |
E142G |
probably damaging |
Het |
| Krt40 |
T |
A |
11: 99,429,579 (GRCm39) |
T332S |
probably damaging |
Het |
| Lrrc9 |
T |
C |
12: 72,506,767 (GRCm39) |
F348S |
probably damaging |
Het |
| Lrrn4 |
T |
C |
2: 132,712,290 (GRCm39) |
D511G |
probably benign |
Het |
| Lrtm2 |
T |
C |
6: 119,297,934 (GRCm39) |
I36V |
probably benign |
Het |
| Lsm10 |
T |
C |
4: 125,991,860 (GRCm39) |
L72P |
probably damaging |
Het |
| Mab21l3 |
T |
A |
3: 101,742,519 (GRCm39) |
S14C |
possibly damaging |
Het |
| Map2k4 |
T |
C |
11: 65,581,569 (GRCm39) |
K381R |
probably benign |
Het |
| Mcidas |
A |
G |
13: 113,130,915 (GRCm39) |
D80G |
probably damaging |
Het |
| Med23 |
A |
G |
10: 24,750,469 (GRCm39) |
M99V |
probably benign |
Het |
| Mga |
A |
G |
2: 119,778,656 (GRCm39) |
D2067G |
probably benign |
Het |
| Ms4a19 |
T |
A |
19: 11,119,775 (GRCm39) |
T52S |
possibly damaging |
Het |
| Msc |
G |
T |
1: 14,825,707 (GRCm39) |
P89Q |
probably benign |
Het |
| Nalf1 |
C |
A |
8: 9,821,006 (GRCm39) |
A5S |
probably damaging |
Het |
| Or14c44 |
A |
G |
7: 86,062,430 (GRCm39) |
I287V |
probably benign |
Het |
| Or2d3c |
A |
T |
7: 106,526,564 (GRCm39) |
I34N |
possibly damaging |
Het |
| Or5t7 |
A |
T |
2: 86,507,494 (GRCm39) |
L61Q |
probably damaging |
Het |
| Plekhg6 |
T |
C |
6: 125,340,023 (GRCm39) |
D779G |
probably damaging |
Het |
| Pnpla2 |
C |
A |
7: 141,035,331 (GRCm39) |
Y44* |
probably null |
Het |
| Ppp1r17 |
T |
A |
6: 56,003,524 (GRCm39) |
D112E |
probably damaging |
Het |
| Prdm2 |
A |
G |
4: 142,861,478 (GRCm39) |
I604T |
probably damaging |
Het |
| Prkce |
A |
G |
17: 86,781,877 (GRCm39) |
Y182C |
probably damaging |
Het |
| Prokr2 |
G |
A |
2: 132,182,790 (GRCm39) |
S189F |
possibly damaging |
Het |
| Qser1 |
A |
T |
2: 104,618,164 (GRCm39) |
S793T |
probably benign |
Het |
| Reck |
T |
C |
4: 43,943,301 (GRCm39) |
F951S |
probably benign |
Het |
| Rev3l |
T |
C |
10: 39,697,458 (GRCm39) |
S652P |
probably benign |
Het |
| Rtl1 |
A |
C |
12: 109,558,884 (GRCm39) |
L985R |
probably damaging |
Het |
| Sardh |
T |
C |
2: 27,120,869 (GRCm39) |
E385G |
possibly damaging |
Het |
| Sfmbt1 |
G |
T |
14: 30,519,599 (GRCm39) |
W440L |
possibly damaging |
Het |
| Slc51a |
A |
G |
16: 32,298,517 (GRCm39) |
L80P |
possibly damaging |
Het |
| Slco3a1 |
C |
A |
7: 74,154,037 (GRCm39) |
L178F |
probably damaging |
Het |
| Spata6 |
T |
A |
4: 111,636,389 (GRCm39) |
C227S |
possibly damaging |
Het |
| Tbc1d30 |
A |
T |
10: 121,103,366 (GRCm39) |
Y555* |
probably null |
Het |
| Tcf7l2 |
A |
G |
19: 55,731,517 (GRCm39) |
Q90R |
probably benign |
Het |
| Tff3 |
A |
C |
17: 31,346,423 (GRCm39) |
S50A |
probably benign |
Het |
| Tnrc6c |
T |
C |
11: 117,630,720 (GRCm39) |
M1027T |
probably benign |
Het |
| Ttc12 |
A |
G |
9: 49,351,680 (GRCm39) |
F606L |
probably benign |
Het |
| Uqcc3 |
G |
A |
19: 8,858,090 (GRCm39) |
Q34* |
probably null |
Het |
| Veph1 |
T |
A |
3: 66,151,959 (GRCm39) |
I157F |
probably damaging |
Het |
| Vmn2r14 |
G |
A |
5: 109,368,428 (GRCm39) |
T188I |
probably damaging |
Het |
| Vmn2r67 |
A |
G |
7: 84,785,788 (GRCm39) |
I739T |
probably benign |
Het |
| Vmn2r68 |
A |
G |
7: 84,882,993 (GRCm39) |
F253S |
probably benign |
Het |
| Vmn2r74 |
T |
C |
7: 85,606,624 (GRCm39) |
I241V |
probably benign |
Het |
| Vmn2r97 |
A |
G |
17: 19,149,368 (GRCm39) |
E252G |
probably benign |
Het |
| Vps13b |
T |
C |
15: 35,455,200 (GRCm39) |
V703A |
possibly damaging |
Het |
| Vps25 |
T |
A |
11: 101,149,623 (GRCm39) |
L149Q |
probably damaging |
Het |
| Xirp1 |
T |
C |
9: 119,845,950 (GRCm39) |
T978A |
probably benign |
Het |
| Xpnpep1 |
T |
A |
19: 52,993,248 (GRCm39) |
I360F |
probably benign |
Het |
| Zfpm1 |
C |
T |
8: 123,061,308 (GRCm39) |
T291M |
probably benign |
Het |
| Zkscan8 |
A |
G |
13: 21,710,702 (GRCm39) |
V136A |
probably benign |
Het |
| Zscan18 |
A |
G |
7: 12,505,612 (GRCm39) |
Y592H |
probably 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 |
|
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'- TCTCTAAAGGGAACATGTGGTC -3'
(R):5'- CCAAAATTCAATCCAGTTACCTTGG -3'
Sequencing Primer
(F):5'- CTCTAAAGGGAACATGTGGTCAAAAG -3'
(R):5'- CCTTGGTAGGAAAATATCTCTTGGTC -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation