Incidental Mutation 'R2042:Slc4a7'
ID |
225126 |
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 |
040049-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.898)
|
Stock # |
R2042 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
7669819-7766808 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 14737386 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 99
(V99M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153323
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057015]
[ENSMUST00000223607]
[ENSMUST00000223695]
[ENSMUST00000223740]
[ENSMUST00000223761]
[ENSMUST00000223981]
[ENSMUST00000225232]
[ENSMUST00000224672]
[ENSMUST00000225238]
[ENSMUST00000224049]
[ENSMUST00000224333]
[ENSMUST00000225175]
[ENSMUST00000225630]
[ENSMUST00000224222]
[ENSMUST00000224752]
[ENSMUST00000226079]
[ENSMUST00000225979]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000057015
AA Change: V99M
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000058313 Gene: ENSMUSG00000021733 AA Change: V99M
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: V99M
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000223695
AA Change: V105M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000223740
AA Change: V105M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000223761
AA Change: V99M
PolyPhen 2
Score 0.763 (Sensitivity: 0.85; Specificity: 0.92)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000223981
AA Change: V99M
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
Predicted Effect |
unknown
Transcript: ENSMUST00000224952
AA Change: V118M
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000225232
AA Change: V99M
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000224672
AA Change: V105M
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000225238
AA Change: V99M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000224049
AA Change: V105M
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000224333
AA Change: V105M
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000225175
AA Change: V99M
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000225630
AA Change: V99M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000224222
AA Change: V99M
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000224752
AA Change: V104M
PolyPhen 2
Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225496
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225078
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000226079
AA Change: V99M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000225979
AA Change: V99M
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.4%
|
Validation Efficiency |
100% (67/67) |
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700006A11Rik |
T |
A |
3: 124,210,377 (GRCm39) |
|
probably benign |
Het |
Abca16 |
G |
A |
7: 120,143,941 (GRCm39) |
R1653Q |
probably benign |
Het |
Ahnak2 |
T |
A |
12: 112,749,439 (GRCm39) |
Y176F |
probably damaging |
Het |
Ano6 |
T |
C |
15: 95,853,904 (GRCm39) |
|
probably null |
Het |
Atr |
T |
C |
9: 95,752,075 (GRCm39) |
L564S |
probably benign |
Het |
Birc6 |
C |
G |
17: 74,916,654 (GRCm39) |
A1774G |
probably damaging |
Het |
Cacng1 |
C |
T |
11: 107,595,134 (GRCm39) |
A148T |
probably damaging |
Het |
Cd53 |
T |
A |
3: 106,674,740 (GRCm39) |
|
probably null |
Het |
Celsr2 |
A |
G |
3: 108,309,811 (GRCm39) |
F1596S |
probably damaging |
Het |
Cep120 |
A |
T |
18: 53,868,814 (GRCm39) |
F122I |
possibly damaging |
Het |
Ckm |
A |
T |
7: 19,148,082 (GRCm39) |
H7L |
possibly damaging |
Het |
Crybg2 |
T |
C |
4: 133,814,844 (GRCm39) |
V1575A |
possibly damaging |
Het |
Cspp1 |
A |
G |
1: 10,182,763 (GRCm39) |
E712G |
probably damaging |
Het |
Cyp2b23 |
C |
A |
7: 26,365,533 (GRCm39) |
R434L |
probably damaging |
Het |
D630003M21Rik |
A |
T |
2: 158,057,769 (GRCm39) |
S570T |
probably damaging |
Het |
Dmbt1 |
A |
G |
7: 130,708,089 (GRCm39) |
I1444V |
probably damaging |
Het |
Dnah8 |
T |
C |
17: 30,854,632 (GRCm39) |
V98A |
probably benign |
Het |
Dtx1 |
T |
G |
5: 120,832,541 (GRCm39) |
N299T |
probably benign |
Het |
Efr3b |
T |
A |
12: 4,034,627 (GRCm39) |
D65V |
probably damaging |
Het |
Eml4 |
T |
C |
17: 83,755,607 (GRCm39) |
C323R |
probably damaging |
Het |
Eps15 |
C |
T |
4: 109,161,964 (GRCm39) |
T31I |
probably damaging |
Het |
Fam91a1 |
A |
G |
15: 58,298,443 (GRCm39) |
I184V |
probably benign |
Het |
Fbxl8 |
A |
T |
8: 105,994,856 (GRCm39) |
I123F |
probably damaging |
Het |
Fbxw26 |
T |
G |
9: 109,561,772 (GRCm39) |
T141P |
probably damaging |
Het |
Fhip1b |
G |
T |
7: 105,033,328 (GRCm39) |
Y629* |
probably null |
Het |
Glra3 |
G |
A |
8: 56,515,494 (GRCm39) |
D190N |
probably benign |
Het |
Hspg2 |
T |
C |
4: 137,295,677 (GRCm39) |
L4229P |
probably damaging |
Het |
Ipmk |
C |
T |
10: 71,199,333 (GRCm39) |
R65W |
probably damaging |
Het |
Irs2 |
A |
G |
8: 11,057,580 (GRCm39) |
I284T |
probably damaging |
Het |
Klhl22 |
T |
C |
16: 17,610,284 (GRCm39) |
|
probably benign |
Het |
Lmcd1 |
T |
A |
6: 112,292,851 (GRCm39) |
D234E |
probably benign |
Het |
Lrrc14b |
T |
C |
13: 74,511,561 (GRCm39) |
K173R |
probably benign |
Het |
Magi1 |
A |
T |
6: 93,732,026 (GRCm39) |
N209K |
probably benign |
Het |
Mak |
A |
C |
13: 41,202,912 (GRCm39) |
S179A |
possibly damaging |
Het |
Map3k4 |
C |
A |
17: 12,496,870 (GRCm39) |
R87L |
probably damaging |
Het |
Map4k1 |
T |
C |
7: 28,683,555 (GRCm39) |
L53P |
probably damaging |
Het |
Melk |
T |
C |
4: 44,309,051 (GRCm39) |
|
probably null |
Het |
Mks1 |
C |
T |
11: 87,747,494 (GRCm39) |
|
probably benign |
Het |
Mrgpra2b |
C |
T |
7: 47,113,908 (GRCm39) |
V249I |
probably benign |
Het |
N4bp2 |
C |
T |
5: 65,983,964 (GRCm39) |
P1670S |
probably damaging |
Het |
Ncf1 |
C |
G |
5: 134,255,494 (GRCm39) |
Q132H |
probably benign |
Het |
Nemp1 |
T |
C |
10: 127,532,203 (GRCm39) |
S370P |
possibly damaging |
Het |
Nt5c3b |
T |
C |
11: 100,327,020 (GRCm39) |
H92R |
probably benign |
Het |
Or12j2 |
T |
C |
7: 139,915,850 (GRCm39) |
L25P |
probably damaging |
Het |
Or4p19 |
G |
A |
2: 88,242,546 (GRCm39) |
A152V |
possibly damaging |
Het |
P4ha3 |
T |
C |
7: 99,949,897 (GRCm39) |
|
probably null |
Het |
Pcnx1 |
C |
A |
12: 81,965,067 (GRCm39) |
H411Q |
probably damaging |
Het |
Podxl |
A |
G |
6: 31,500,051 (GRCm39) |
V473A |
possibly damaging |
Het |
Prkd2 |
T |
C |
7: 16,590,193 (GRCm39) |
S530P |
possibly damaging |
Het |
Scin |
A |
G |
12: 40,127,509 (GRCm39) |
I427T |
possibly damaging |
Het |
Sgo2b |
T |
C |
8: 64,381,561 (GRCm39) |
T424A |
probably benign |
Het |
Slc22a2 |
T |
C |
17: 12,818,012 (GRCm39) |
I196T |
probably benign |
Het |
Slc47a2 |
C |
A |
11: 61,228,908 (GRCm39) |
V90L |
probably benign |
Het |
Spata31f3 |
C |
T |
4: 42,874,030 (GRCm39) |
C46Y |
possibly damaging |
Het |
Sprr2k |
T |
C |
3: 92,340,763 (GRCm39) |
|
probably benign |
Het |
Spta1 |
G |
A |
1: 174,039,213 (GRCm39) |
M1185I |
probably benign |
Het |
Tent5b |
T |
C |
4: 133,213,924 (GRCm39) |
V265A |
possibly damaging |
Het |
Uaca |
T |
C |
9: 60,777,173 (GRCm39) |
V518A |
probably damaging |
Het |
Ubr3 |
C |
T |
2: 69,808,118 (GRCm39) |
Q1200* |
probably null |
Het |
Ufm1 |
A |
G |
3: 53,766,702 (GRCm39) |
|
probably benign |
Het |
Zer1 |
G |
A |
2: 29,998,286 (GRCm39) |
L342F |
probably damaging |
Het |
Zfp142 |
G |
A |
1: 74,609,778 (GRCm39) |
T1236I |
probably benign |
Het |
Zfp236 |
A |
G |
18: 82,651,234 (GRCm39) |
Y845H |
probably damaging |
Het |
Zfp747l1 |
A |
T |
7: 126,984,641 (GRCm39) |
C154S |
possibly damaging |
Het |
Zfp787 |
T |
C |
7: 6,135,763 (GRCm39) |
K163E |
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 |
|
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 |
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'- CTTGTACATGTTGGAAGCTTGAAG -3'
(R):5'- ATCACCAACTGCATCTTGTACT -3'
Sequencing Primer
(F):5'- TCCAGGACTTCCCATGCAG -3'
(R):5'- CCAACTGCATCTTGTACTTAAAAGC -3'
|
Posted On |
2014-08-25 |