Incidental Mutation 'R5842:Slc4a7'
ID |
450508 |
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 |
043223-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.898)
|
Stock # |
R5842 (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 14778866 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 925
(M925K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153323
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057015]
[ENSMUST00000223607]
[ENSMUST00000223695]
[ENSMUST00000223740]
[ENSMUST00000223761]
[ENSMUST00000223981]
[ENSMUST00000224049]
[ENSMUST00000225630]
[ENSMUST00000224222]
[ENSMUST00000224333]
[ENSMUST00000224752]
[ENSMUST00000225175]
[ENSMUST00000225979]
[ENSMUST00000225232]
[ENSMUST00000224672]
[ENSMUST00000225238]
[ENSMUST00000226079]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000057015
AA Change: M925K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000058313 Gene: ENSMUSG00000021733 AA Change: M925K
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 damaging
Transcript: ENSMUST00000223607
AA Change: M1037K
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000223695
AA Change: M938K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000223740
AA Change: M931K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000223761
AA Change: M1048K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000223981
AA Change: M1050K
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000224049
AA Change: M918K
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000225630
AA Change: M912K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000224222
AA Change: M1037K
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000224333
AA Change: M1056K
PolyPhen 2
Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000224752
AA Change: M1042K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000225175
AA Change: M1035K
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000225979
AA Change: M932K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000225232
AA Change: M828K
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000224672
AA Change: M1041K
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
Predicted Effect |
unknown
Transcript: ENSMUST00000224952
AA Change: M964K
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000225238
AA Change: M945K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225496
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000226079
AA Change: M925K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.4%
- 10x: 97.1%
- 20x: 90.3%
|
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alpk1 |
G |
A |
3: 127,474,618 (GRCm39) |
H462Y |
probably damaging |
Het |
Atp12a |
T |
C |
14: 56,615,747 (GRCm39) |
I503T |
probably damaging |
Het |
Bmp6 |
T |
A |
13: 38,530,543 (GRCm39) |
V212D |
probably damaging |
Het |
Col7a1 |
A |
G |
9: 108,794,883 (GRCm39) |
D1479G |
unknown |
Het |
Eea1 |
A |
G |
10: 95,853,986 (GRCm39) |
D548G |
probably damaging |
Het |
Eif5a2 |
T |
C |
3: 28,848,546 (GRCm39) |
V135A |
probably benign |
Het |
Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
Fstl5 |
T |
G |
3: 76,229,590 (GRCm39) |
N130K |
possibly damaging |
Het |
Gatm |
T |
C |
2: 122,434,108 (GRCm39) |
I147V |
probably benign |
Het |
Jakmip1 |
C |
T |
5: 37,264,612 (GRCm39) |
R418C |
probably damaging |
Het |
Kmt2d |
G |
A |
15: 98,749,990 (GRCm39) |
|
probably benign |
Het |
Matn2 |
A |
T |
15: 34,399,202 (GRCm39) |
D363V |
probably damaging |
Het |
Mov10 |
G |
A |
3: 104,706,695 (GRCm39) |
|
probably benign |
Het |
Mtpn |
C |
T |
6: 35,489,225 (GRCm39) |
D100N |
probably benign |
Het |
Nbas |
T |
C |
12: 13,319,267 (GRCm39) |
|
probably null |
Het |
Nlgn1 |
A |
T |
3: 26,187,892 (GRCm39) |
|
probably null |
Het |
Nnt |
T |
A |
13: 119,531,283 (GRCm39) |
I155F |
probably damaging |
Het |
Or5p80 |
A |
G |
7: 108,229,859 (GRCm39) |
Y220C |
probably benign |
Het |
Pacc1 |
G |
T |
1: 191,078,986 (GRCm39) |
C223F |
probably damaging |
Het |
Parp9 |
A |
G |
16: 35,763,778 (GRCm39) |
I19V |
possibly damaging |
Het |
Pcdha11 |
T |
A |
18: 37,144,337 (GRCm39) |
S143T |
possibly damaging |
Het |
Pdzph1 |
T |
G |
17: 59,281,407 (GRCm39) |
S292R |
possibly damaging |
Het |
Pmvk |
T |
A |
3: 89,374,927 (GRCm39) |
V108D |
probably damaging |
Het |
Rc3h2 |
T |
C |
2: 37,268,383 (GRCm39) |
T916A |
possibly damaging |
Het |
Slc23a1 |
T |
A |
18: 35,755,935 (GRCm39) |
I393F |
probably damaging |
Het |
Spag17 |
A |
G |
3: 99,846,566 (GRCm39) |
D30G |
possibly damaging |
Het |
Syde2 |
A |
G |
3: 145,704,775 (GRCm39) |
I576V |
probably benign |
Het |
Tgm2 |
C |
T |
2: 157,985,001 (GRCm39) |
R35H |
probably damaging |
Het |
Tiam1 |
A |
G |
16: 89,652,887 (GRCm39) |
V745A |
probably benign |
Het |
Timeless |
T |
C |
10: 128,083,328 (GRCm39) |
|
probably null |
Het |
Trp53tg5 |
T |
C |
2: 164,313,289 (GRCm39) |
K129E |
possibly damaging |
Het |
Ttc6 |
T |
C |
12: 57,783,802 (GRCm39) |
Y1754H |
probably damaging |
Het |
Ube4b |
G |
T |
4: 149,415,887 (GRCm39) |
T1069N |
probably benign |
Het |
Ugcg |
C |
T |
4: 59,219,545 (GRCm39) |
S294L |
possibly damaging |
Het |
Vgll2 |
T |
C |
10: 51,901,388 (GRCm39) |
L106P |
probably damaging |
Het |
Vsig10l |
T |
A |
7: 43,118,396 (GRCm39) |
V798E |
probably benign |
Het |
Wdr73 |
A |
T |
7: 80,541,458 (GRCm39) |
H361Q |
probably damaging |
Het |
Xrcc3 |
A |
T |
12: 111,770,964 (GRCm39) |
F322I |
possibly damaging |
Het |
Ypel1 |
T |
C |
16: 16,912,851 (GRCm39) |
T26A |
possibly 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 |
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'- GAATGTTGGCCTAGTCCTTTTCAC -3'
(R):5'- CATCGTCTTCACTGAGCAGAC -3'
Sequencing Primer
(F):5'- GGCCTAGTCCTTTTCACAAAAG -3'
(R):5'- GTCTTCACTGAGCAGACATGTGAC -3'
|
Posted On |
2016-12-20 |