Incidental Mutation 'R5919:Slc4a7'
| ID |
462585 |
| 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 |
044116-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.898)
|
| Stock # |
R5919 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
7669819-7766808 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 14791092 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 1045
(D1045G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058313
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057015]
[ENSMUST00000223607]
[ENSMUST00000223695]
[ENSMUST00000223740]
[ENSMUST00000223761]
[ENSMUST00000223981]
[ENSMUST00000224049]
[ENSMUST00000225238]
[ENSMUST00000225979]
[ENSMUST00000225232]
[ENSMUST00000224672]
[ENSMUST00000226079]
[ENSMUST00000224752]
[ENSMUST00000225175]
[ENSMUST00000224222]
[ENSMUST00000224333]
[ENSMUST00000225630]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057015
AA Change: D1045G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000058313
Gene: ENSMUSG00000021733
AA Change: D1045G
| 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
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223695
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223740
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223761
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223981
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224049
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225238
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225979
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225232
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224952
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224672
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226079
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224752
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225175
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224222
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224333
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225613
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225630
|
| Meta Mutation Damage Score |
0.0802 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.5%
|
| Validation Efficiency |
100% (68/68) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700025G04Rik |
T |
C |
1: 151,791,249 (GRCm39) |
D104G |
probably damaging |
Het |
| 6030458C11Rik |
A |
T |
15: 12,823,754 (GRCm39) |
H40Q |
probably damaging |
Het |
| Abcc3 |
A |
G |
11: 94,248,132 (GRCm39) |
V1156A |
possibly damaging |
Het |
| Adgrl1 |
G |
T |
8: 84,659,239 (GRCm39) |
D648Y |
probably damaging |
Het |
| Adgrl3 |
C |
A |
5: 81,794,417 (GRCm39) |
D547E |
probably benign |
Het |
| Aebp1 |
A |
T |
11: 5,821,421 (GRCm39) |
M607L |
probably benign |
Het |
| Angptl1 |
T |
C |
1: 156,686,116 (GRCm39) |
Y401H |
probably damaging |
Het |
| Arl4d |
A |
G |
11: 101,557,962 (GRCm39) |
T163A |
probably benign |
Het |
| Bltp2 |
A |
T |
11: 78,180,176 (GRCm39) |
N2152I |
probably damaging |
Het |
| Camk2b |
A |
G |
11: 5,929,718 (GRCm39) |
S331P |
probably damaging |
Het |
| Ccdc15 |
C |
T |
9: 37,231,692 (GRCm39) |
|
probably null |
Het |
| Ccdc168 |
T |
C |
1: 44,096,146 (GRCm39) |
N1651D |
probably benign |
Het |
| Ccdc38 |
A |
T |
10: 93,414,700 (GRCm39) |
I370F |
possibly damaging |
Het |
| Clstn1 |
A |
T |
4: 149,719,703 (GRCm39) |
H416L |
probably damaging |
Het |
| Col12a1 |
C |
T |
9: 79,509,580 (GRCm39) |
R3030H |
probably damaging |
Het |
| Cop1 |
T |
A |
1: 159,147,294 (GRCm39) |
V540E |
probably damaging |
Het |
| Crebbp |
C |
T |
16: 3,925,991 (GRCm39) |
R710H |
probably damaging |
Het |
| Dsel |
T |
C |
1: 111,787,983 (GRCm39) |
I851V |
probably benign |
Het |
| Esrp1 |
A |
G |
4: 11,344,146 (GRCm39) |
V642A |
probably damaging |
Het |
| Fanci |
T |
C |
7: 79,094,486 (GRCm39) |
L1139P |
probably damaging |
Het |
| Fat1 |
T |
C |
8: 45,479,910 (GRCm39) |
|
probably null |
Het |
| Fsip2 |
A |
G |
2: 82,822,953 (GRCm39) |
N6229D |
possibly damaging |
Het |
| Garin5b |
T |
C |
7: 4,773,385 (GRCm39) |
E144G |
possibly damaging |
Het |
| Gas2l3 |
G |
A |
10: 89,252,917 (GRCm39) |
R243W |
probably damaging |
Het |
| Hectd1 |
G |
A |
12: 51,815,855 (GRCm39) |
R1406W |
probably damaging |
Het |
| Hecw2 |
T |
C |
1: 53,976,249 (GRCm39) |
H180R |
probably damaging |
Het |
| Ift172 |
T |
A |
5: 31,418,006 (GRCm39) |
Q1261L |
possibly damaging |
Het |
| Il17rd |
T |
C |
14: 26,818,001 (GRCm39) |
V230A |
probably damaging |
Het |
| Kif17 |
A |
T |
4: 137,997,202 (GRCm39) |
I42F |
probably damaging |
Het |
| Kif24 |
T |
C |
4: 41,394,477 (GRCm39) |
K799E |
possibly damaging |
Het |
| Lrp4 |
A |
T |
2: 91,303,552 (GRCm39) |
I84F |
probably damaging |
Het |
| Mplkipl1 |
T |
C |
19: 61,163,907 (GRCm39) |
Y176C |
probably damaging |
Het |
| Mroh7 |
T |
C |
4: 106,551,509 (GRCm39) |
|
probably null |
Het |
| Ms4a14 |
C |
A |
19: 11,291,661 (GRCm39) |
V13F |
possibly damaging |
Het |
| Muc2 |
T |
A |
7: 141,281,171 (GRCm39) |
V445D |
probably damaging |
Het |
| Muc6 |
A |
T |
7: 141,227,837 (GRCm39) |
M1317K |
possibly damaging |
Het |
| Myof |
T |
A |
19: 38,012,818 (GRCm39) |
D39V |
possibly damaging |
Het |
| Ndufaf1 |
A |
C |
2: 119,490,709 (GRCm39) |
V117G |
possibly damaging |
Het |
| Ndufs1 |
C |
G |
1: 63,182,991 (GRCm39) |
*728S |
probably null |
Het |
| Nup188 |
A |
T |
2: 30,229,906 (GRCm39) |
N1375Y |
probably damaging |
Het |
| Oasl1 |
T |
A |
5: 115,066,329 (GRCm39) |
I149N |
probably damaging |
Het |
| Or9i16 |
A |
G |
19: 13,865,209 (GRCm39) |
Y122H |
probably damaging |
Het |
| Pelo |
C |
A |
13: 115,225,845 (GRCm39) |
C204F |
possibly damaging |
Het |
| Phf11d |
A |
C |
14: 59,593,712 (GRCm39) |
|
probably benign |
Het |
| Rars2 |
T |
C |
4: 34,657,232 (GRCm39) |
L526P |
probably damaging |
Het |
| Rrp1 |
A |
G |
10: 78,241,422 (GRCm39) |
L177P |
probably damaging |
Het |
| S100a9 |
A |
G |
3: 90,602,495 (GRCm39) |
L33P |
probably damaging |
Het |
| Slc9a3 |
C |
T |
13: 74,306,859 (GRCm39) |
T328I |
probably damaging |
Het |
| Spata6 |
A |
G |
4: 111,636,405 (GRCm39) |
D232G |
probably damaging |
Het |
| Taar6 |
A |
T |
10: 23,861,168 (GRCm39) |
I126N |
probably damaging |
Het |
| Tmeff2 |
C |
A |
1: 51,171,311 (GRCm39) |
C182* |
probably null |
Het |
| Tmem178 |
T |
A |
17: 81,297,187 (GRCm39) |
C190S |
probably damaging |
Het |
| Trerf1 |
T |
G |
17: 47,634,208 (GRCm39) |
|
noncoding transcript |
Het |
| Trgv6 |
A |
G |
13: 19,374,782 (GRCm39) |
Y16C |
probably benign |
Het |
| Ubn2 |
A |
G |
6: 38,468,423 (GRCm39) |
I1046V |
possibly damaging |
Het |
| Vmn1r221 |
A |
T |
13: 23,401,466 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r2 |
T |
C |
3: 64,044,723 (GRCm39) |
N141S |
probably benign |
Het |
| Zfp64 |
T |
A |
2: 168,768,419 (GRCm39) |
N398Y |
probably benign |
Het |
| Zfp787 |
T |
G |
7: 6,135,834 (GRCm39) |
Q139P |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTGTGGTAACTAGTACTCAGAC -3'
(R):5'- CTGTGGTGACATTGCAGAAAC -3'
Sequencing Primer
(F):5'- GGTAACTAGTACTCAGACTTAAGTCG -3'
(R):5'- GTTTTCACTGGAATCTGCA -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation