Incidental Mutation 'R2880:Slc4a7'
| ID |
260293 |
| 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 |
040468-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.925)
|
| Stock # |
R2880 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
7669819-7766808 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 14773277 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 872
(I872K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153045
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057015]
[ENSMUST00000223607]
[ENSMUST00000223695]
[ENSMUST00000223740]
[ENSMUST00000223761]
[ENSMUST00000223981]
[ENSMUST00000224049]
[ENSMUST00000224333]
[ENSMUST00000225175]
[ENSMUST00000225630]
[ENSMUST00000224752]
[ENSMUST00000225979]
[ENSMUST00000224222]
[ENSMUST00000226079]
[ENSMUST00000224672]
[ENSMUST00000225238]
[ENSMUST00000225232]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000057015
AA Change: I749K
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000058313
Gene: ENSMUSG00000021733
AA Change: I749K
| 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: I861K
PolyPhen 2
Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000223695
AA Change: I762K
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000223740
AA Change: I755K
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000223761
AA Change: I872K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000223981
AA Change: I874K
PolyPhen 2
Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000224049
AA Change: I742K
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000224333
AA Change: I880K
PolyPhen 2
Score 0.755 (Sensitivity: 0.85; Specificity: 0.92)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000225175
AA Change: I859K
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000225630
AA Change: I736K
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224752
AA Change: I866K
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000225979
AA Change: I756K
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000224222
AA Change: I861K
PolyPhen 2
Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000226079
AA Change: I749K
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000224672
AA Change: I865K
PolyPhen 2
Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000225238
AA Change: I769K
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000224952
AA Change: I788K
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000225232
AA Change: I736K
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225496
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| 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 |
|---|
| Ano4 |
C |
T |
10: 88,948,661 (GRCm39) |
E150K |
probably damaging |
Het |
| Blnk |
T |
C |
19: 40,950,899 (GRCm39) |
Y84C |
probably damaging |
Het |
| Brinp3 |
G |
A |
1: 146,777,740 (GRCm39) |
R729H |
probably damaging |
Het |
| Bsn |
C |
T |
9: 107,990,266 (GRCm39) |
A1829T |
possibly damaging |
Het |
| Cd300c |
A |
T |
11: 114,850,616 (GRCm39) |
N62K |
probably benign |
Het |
| Chd3 |
T |
C |
11: 69,242,946 (GRCm39) |
D1425G |
probably damaging |
Het |
| Ewsr1 |
C |
A |
11: 5,028,523 (GRCm39) |
|
probably benign |
Het |
| Gm4076 |
G |
A |
13: 85,275,357 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9637 |
A |
G |
14: 19,401,978 (GRCm38) |
|
noncoding transcript |
Het |
| Greb1l |
A |
T |
18: 10,547,288 (GRCm39) |
N1502I |
possibly damaging |
Het |
| H13 |
A |
G |
2: 152,537,481 (GRCm39) |
M309V |
probably damaging |
Het |
| Lmf2 |
A |
G |
15: 89,235,856 (GRCm39) |
S683P |
possibly damaging |
Het |
| Lrit1 |
T |
A |
14: 36,779,394 (GRCm39) |
L109Q |
probably damaging |
Het |
| Maml2 |
A |
T |
9: 13,531,893 (GRCm39) |
|
probably null |
Het |
| Map3k14 |
C |
A |
11: 103,111,858 (GRCm39) |
R941L |
probably damaging |
Het |
| Megf6 |
A |
G |
4: 154,337,006 (GRCm39) |
K262E |
probably damaging |
Het |
| Mtnr1b |
T |
G |
9: 15,774,102 (GRCm39) |
Y319S |
probably damaging |
Het |
| Myh8 |
A |
G |
11: 67,188,090 (GRCm39) |
K954R |
probably damaging |
Het |
| Myof |
T |
C |
19: 37,911,473 (GRCm39) |
D1486G |
probably benign |
Het |
| Nbea |
A |
G |
3: 55,554,779 (GRCm39) |
V2623A |
probably benign |
Het |
| Pak1 |
T |
A |
7: 97,554,018 (GRCm39) |
Y463N |
probably damaging |
Het |
| Pex5l |
T |
A |
3: 33,047,152 (GRCm39) |
|
probably null |
Het |
| Rasa4 |
T |
C |
5: 136,120,625 (GRCm39) |
V87A |
probably damaging |
Het |
| Rnf112 |
G |
A |
11: 61,341,293 (GRCm39) |
H431Y |
possibly damaging |
Het |
| Slc25a30 |
A |
G |
14: 76,007,651 (GRCm39) |
V118A |
probably benign |
Het |
| Slc5a11 |
GGTGC |
G |
7: 122,838,595 (GRCm39) |
|
probably null |
Het |
| Sycp1 |
T |
C |
3: 102,726,214 (GRCm39) |
E970G |
probably damaging |
Het |
| Tex15 |
T |
A |
8: 34,064,935 (GRCm39) |
L1455* |
probably null |
Het |
| Tgfb2 |
T |
A |
1: 186,436,752 (GRCm39) |
T74S |
probably damaging |
Het |
| Vmn2r65 |
A |
T |
7: 84,613,094 (GRCm39) |
C42S |
probably damaging |
Het |
| Zbtb12 |
T |
A |
17: 35,114,455 (GRCm39) |
I80N |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCCATAGGAGGCAGATAATAGTAC -3'
(R):5'- GCAGTTCACAAGAGCTCTTATC -3'
Sequencing Primer
(F):5'- CTATGAGAAAGTGGAAGGTAGTTGTG -3'
(R):5'- CTAATAAGAACAAGGTCCTGGGTTC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation