Incidental Mutation 'R8225:Slc4a7'
| ID |
636951 |
| 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 |
067642-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.898)
|
| Stock # |
R8225 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
7669819-7766808 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 14738224 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 153
(R153*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058313
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057015]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000057015
AA Change: R153*
|
| SMART Domains |
Protein: ENSMUSP00000058313
Gene: ENSMUSG00000021733
AA Change: R153*
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb3 |
T |
C |
1: 25,865,597 (GRCm39) |
N82S |
probably benign |
Het |
| Ago3 |
A |
T |
4: 126,247,532 (GRCm39) |
L595Q |
probably damaging |
Het |
| Bpifc |
T |
C |
10: 85,836,431 (GRCm39) |
T25A |
probably benign |
Het |
| Bsn |
T |
A |
9: 107,984,305 (GRCm39) |
T478S |
|
Het |
| Cacna1d |
A |
G |
14: 29,844,990 (GRCm39) |
V720A |
probably benign |
Het |
| Cd109 |
G |
T |
9: 78,568,972 (GRCm39) |
K350N |
probably damaging |
Het |
| Cdk6 |
C |
A |
5: 3,440,790 (GRCm39) |
P115T |
probably benign |
Het |
| Clock |
T |
C |
5: 76,389,759 (GRCm39) |
N363S |
probably damaging |
Het |
| Defa42 |
T |
C |
8: 21,946,418 (GRCm39) |
D39G |
possibly damaging |
Het |
| Dnajb8 |
C |
T |
6: 88,199,940 (GRCm39) |
R159C |
possibly damaging |
Het |
| Dock10 |
T |
A |
1: 80,481,447 (GRCm39) |
K517* |
probably null |
Het |
| Dynlt1a |
G |
T |
17: 6,361,628 (GRCm39) |
Q71K |
probably damaging |
Het |
| Epb41l3 |
C |
T |
17: 69,581,796 (GRCm39) |
T591I |
possibly damaging |
Het |
| Exosc10 |
G |
A |
4: 148,649,661 (GRCm39) |
V364I |
possibly damaging |
Het |
| Fabp3-ps1 |
A |
G |
10: 86,568,098 (GRCm39) |
I52T |
noncoding transcript |
Het |
| Fndc3a |
T |
C |
14: 72,795,117 (GRCm39) |
Q766R |
probably benign |
Het |
| Gm10608 |
CACACACACAGA |
CA |
9: 118,989,776 (GRCm39) |
|
probably null |
Het |
| Gm10645 |
C |
T |
8: 83,892,467 (GRCm39) |
R80H |
unknown |
Het |
| Gpr146 |
A |
T |
5: 139,378,371 (GRCm39) |
M58L |
probably benign |
Het |
| Gzf1 |
T |
A |
2: 148,532,764 (GRCm39) |
F639L |
probably benign |
Het |
| Kars1 |
T |
C |
8: 112,729,970 (GRCm39) |
I136V |
probably benign |
Het |
| Kcnj3 |
G |
A |
2: 55,327,726 (GRCm39) |
V172M |
probably damaging |
Het |
| Kcnk10 |
A |
G |
12: 98,406,849 (GRCm39) |
|
probably null |
Het |
| Nagpa |
C |
A |
16: 5,016,724 (GRCm39) |
D334Y |
probably damaging |
Het |
| Nsun2 |
T |
C |
13: 69,760,493 (GRCm39) |
I57T |
possibly damaging |
Het |
| Or5b107 |
A |
T |
19: 13,142,507 (GRCm39) |
N43I |
probably damaging |
Het |
| Pax8 |
A |
T |
2: 24,312,983 (GRCm39) |
L432Q |
probably damaging |
Het |
| Plxna4 |
A |
G |
6: 32,139,038 (GRCm39) |
L1710P |
probably damaging |
Het |
| Prdm16 |
A |
G |
4: 154,439,702 (GRCm39) |
|
probably null |
Het |
| Qrich2 |
A |
G |
11: 116,344,894 (GRCm39) |
L1721P |
probably damaging |
Het |
| Sbsn |
TCCCACCATGCTTTTGGTCAGGGTGGGAATGTGGCAGACAAGTTAGGTCATGAAACCCACCATGCTTTTGGTCAGGGTGGGAATGTGGCAGACAAGTTAGGTCATGAAACCCACCATGCTTTTGGTCAGGGTGGGAATGTGGCAGACAAGTTAGGTCATG |
TCCCACCATGCTTTTGGTCAGGGTGGGAATGTGGCAGACAAGTTAGGTCATGAAACCCACCATGCTTTTGGTCAGGGTGGGAATGTGGCAGACAAGTTAGGTCATG |
7: 30,451,419 (GRCm39) |
|
probably benign |
Het |
| Sbsn |
T |
C |
7: 30,451,869 (GRCm39) |
F295L |
probably benign |
Het |
| Sult6b2 |
A |
T |
6: 142,750,055 (GRCm39) |
M21K |
probably benign |
Het |
| Swt1 |
A |
C |
1: 151,297,859 (GRCm39) |
S23A |
possibly damaging |
Het |
| Synm |
A |
C |
7: 67,408,797 (GRCm39) |
S194A |
probably benign |
Het |
| Sytl2 |
G |
A |
7: 90,024,725 (GRCm39) |
A238T |
probably benign |
Het |
| Tax1bp1 |
G |
A |
6: 52,721,340 (GRCm39) |
|
probably null |
Het |
| Tfr2 |
G |
A |
5: 137,569,725 (GRCm39) |
A74T |
possibly damaging |
Het |
| Tns1 |
G |
A |
1: 74,025,046 (GRCm39) |
T389I |
probably damaging |
Het |
| Trpm2 |
C |
T |
10: 77,783,807 (GRCm39) |
R222Q |
probably damaging |
Het |
| Trpm4 |
A |
G |
7: 44,954,758 (GRCm39) |
C1094R |
probably benign |
Het |
| Ube2q2l |
A |
T |
6: 136,378,110 (GRCm39) |
L240Q |
probably damaging |
Het |
| Uty |
T |
C |
Y: 1,158,634 (GRCm39) |
S471G |
probably benign |
Het |
| Vipr1 |
A |
T |
9: 121,471,915 (GRCm39) |
M1L |
possibly damaging |
Het |
| Vps13b |
A |
G |
15: 35,794,528 (GRCm39) |
R2313G |
probably damaging |
Het |
| Xrn1 |
T |
A |
9: 95,917,720 (GRCm39) |
C1301S |
probably benign |
Het |
| Ythdc1 |
A |
T |
5: 86,964,796 (GRCm39) |
S164C |
possibly damaging |
Het |
| Ythdc1 |
G |
T |
5: 86,964,797 (GRCm39) |
S164I |
possibly damaging |
Het |
| Zbtb9 |
T |
A |
17: 27,193,759 (GRCm39) |
I388N |
probably damaging |
Het |
| Zfp521 |
T |
C |
18: 13,978,359 (GRCm39) |
I685V |
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 |
|
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 |
|
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'- TGTGGAAATGCATTTGAAGCAC -3'
(R):5'- AAGGGTGGCCTTCATTTGTC -3'
Sequencing Primer
(F):5'- GCATTTGAAGCACTATTTTGTTCTG -3'
(R):5'- AATGAGCTTAGGCCTGAGC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation