Incidental Mutation 'IGL01863:Slc4a7'
| ID | 178420 |
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| Institutional Source |
Australian Phenomics Network
(link to record)
|
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| Gene Symbol |
Slc4a7
|
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| Ensembl Gene |
ENSMUSG00000021733 |
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| Gene Name | solute carrier family 4, sodium bicarbonate cotransporter, member 7 |
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| Synonyms | NBC3, NBCn1, E430014N10Rik |
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| Accession Numbers | |
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| Is this an essential gene? |
Probably essential (E-score: 0.883)
|
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| Stock # | IGL01863
|
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| Quality Score | |
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| Status |
|
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| Chromosome | 14 |
|---|
| Chromosomal Location | 14702279-14799940 bp(+) (GRCm38) |
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| Type of Mutation | missense |
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| DNA Base Change (assembly) |
T to A
at 14762430 bp
|
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| Zygosity | Heterozygous |
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| Amino Acid Change |
Cysteine to Serine
at position 509
(C509S)
|
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| Ref Sequence |
ENSEMBL: ENSMUSP00000152984
(fasta)
|
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| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057015]
[ENSMUST00000223607]
[ENSMUST00000223695]
[ENSMUST00000223740]
[ENSMUST00000223761]
[ENSMUST00000223981]
[ENSMUST00000224049]
[ENSMUST00000224222]
[ENSMUST00000224333]
[ENSMUST00000224672]
[ENSMUST00000224752]
[ENSMUST00000225238]
[ENSMUST00000225175]
[ENSMUST00000225232]
[ENSMUST00000225979]
[ENSMUST00000226079]
[ENSMUST00000225630]
|
|---|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000057015
AA Change: C489S
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
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| SMART Domains |
Protein: ENSMUSP00000058313
Gene: ENSMUSG00000021733
AA Change: C489S
| 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: C601S
PolyPhen 2
Score 0.508 (Sensitivity: 0.88; Specificity: 0.90)
|
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| Predicted Effect |
probably benign
Transcript: ENSMUST00000223695
AA Change: C502S
PolyPhen 2
Score 0.284 (Sensitivity: 0.91; Specificity: 0.88)
|
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| Predicted Effect |
probably damaging
Transcript: ENSMUST00000223740
AA Change: C495S
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
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| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000223761
AA Change: C612S
PolyPhen 2
Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
|
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| Predicted Effect |
probably benign
Transcript: ENSMUST00000223771
|
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| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000223981
AA Change: C614S
PolyPhen 2
Score 0.508 (Sensitivity: 0.88; Specificity: 0.90)
|
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| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000224049
AA Change: C482S
PolyPhen 2
Score 0.508 (Sensitivity: 0.88; Specificity: 0.90)
|
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| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000224222
AA Change: C601S
PolyPhen 2
Score 0.508 (Sensitivity: 0.88; Specificity: 0.90)
|
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| Predicted Effect |
probably benign
Transcript: ENSMUST00000224333
AA Change: C620S
PolyPhen 2
Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
|
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| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000224672
AA Change: C605S
PolyPhen 2
Score 0.508 (Sensitivity: 0.88; Specificity: 0.90)
|
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| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224750
|
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| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000224752
AA Change: C606S
PolyPhen 2
Score 0.815 (Sensitivity: 0.84; Specificity: 0.93)
|
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| Predicted Effect |
probably damaging
Transcript: ENSMUST00000225238
AA Change: C509S
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
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| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000225175
AA Change: C599S
PolyPhen 2
Score 0.508 (Sensitivity: 0.88; Specificity: 0.90)
|
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| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000225232
AA Change: C476S
PolyPhen 2
Score 0.508 (Sensitivity: 0.88; Specificity: 0.90)
|
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| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225508
|
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| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225496
|
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| Predicted Effect |
probably benign
Transcript: ENSMUST00000225979
AA Change: C496S
PolyPhen 2
Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
|
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| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000226079
AA Change: C489S
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
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| Predicted Effect |
unknown
Transcript: ENSMUST00000224952
AA Change: C528S
|
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| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000225630
AA Change: C476S
PolyPhen 2
Score 0.614 (Sensitivity: 0.87; Specificity: 0.91)
|
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| Coding Region Coverage |
|
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| Validation Efficiency |
|
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| 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]
|
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| Allele List at MGI | |
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| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afg1l |
T |
A |
10: 42,339,911 |
I326F |
possibly damaging |
Het |
| Aimp1 |
T |
C |
3: 132,672,092 |
T171A |
probably benign |
Het |
| Armc4 |
T |
C |
18: 7,222,617 |
T551A |
probably damaging |
Het |
| Ash1l |
T |
A |
3: 88,985,506 |
L1564* |
probably null |
Het |
| Atp1a1 |
G |
T |
3: 101,591,889 |
Y131* |
probably null |
Het |
| Celsr2 |
T |
C |
3: 108,394,022 |
E2686G |
probably benign |
Het |
| Cyp4f18 |
A |
G |
8: 71,989,926 |
V395A |
possibly damaging |
Het |
| Ephb2 |
T |
C |
4: 136,659,777 |
Q713R |
probably benign |
Het |
| Esf1 |
A |
T |
2: 140,120,679 |
M824K |
probably benign |
Het |
| Fam46c |
C |
T |
3: 100,472,664 |
D259N |
probably benign |
Het |
| Fat4 |
T |
C |
3: 38,970,619 |
|
probably benign |
Het |
| Gem |
A |
G |
4: 11,705,980 |
I23V |
probably benign |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 |
Y194F |
probably benign |
Het |
| Gm5862 |
A |
C |
5: 26,022,771 |
W41G |
probably benign |
Het |
| Il6st |
A |
G |
13: 112,504,210 |
E779G |
possibly damaging |
Het |
| Lama3 |
T |
A |
18: 12,419,936 |
|
probably benign |
Het |
| Lipi |
A |
C |
16: 75,550,226 |
I435R |
probably damaging |
Het |
| Lrrc6 |
A |
T |
15: 66,396,974 |
|
probably benign |
Het |
| Olfr291 |
T |
C |
7: 84,856,411 |
L14P |
probably damaging |
Het |
| Omg |
C |
T |
11: 79,502,224 |
M269I |
probably benign |
Het |
| Optn |
A |
T |
2: 5,021,487 |
|
probably benign |
Het |
| Pex1 |
A |
G |
5: 3,606,066 |
T298A |
probably benign |
Het |
| Rab27b |
T |
A |
18: 69,989,554 |
R111S |
probably damaging |
Het |
| Rhbdf1 |
T |
G |
11: 32,213,484 |
E329D |
probably benign |
Het |
| Slc2a13 |
T |
C |
15: 91,516,492 |
I176V |
probably benign |
Het |
| Slc30a1 |
T |
A |
1: 191,909,084 |
C281S |
probably damaging |
Het |
| Slfn9 |
T |
C |
11: 82,981,325 |
R862G |
probably benign |
Het |
| Tbc1d2 |
A |
G |
4: 46,607,064 |
I782T |
possibly damaging |
Het |
| Vmn2r-ps159 |
C |
T |
4: 156,338,254 |
|
noncoding transcript |
Het |
| Vps33b |
T |
C |
7: 80,274,311 |
|
probably null |
Het |
| Wrap73 |
A |
G |
4: 154,145,333 |
I54V |
probably benign |
Het |
|
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| Other mutations in Slc4a7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00974:Slc4a7
|
APN |
14 |
14760292 |
missense |
probably benign |
0.18 |
|
IGL01468:Slc4a7
|
APN |
14 |
14737480 |
missense |
probably damaging |
1.00 |
|
IGL03122:Slc4a7
|
APN |
14 |
14782040 |
splice site |
probably benign |
|
|
R0020:Slc4a7
|
UTSW |
14 |
14796108 |
missense |
probably benign |
|
|
R0403:Slc4a7
|
UTSW |
14 |
14766808 |
missense |
probably benign |
0.02 |
|
R0410:Slc4a7
|
UTSW |
14 |
14738299 |
missense |
probably damaging |
1.00 |
|
R0624:Slc4a7
|
UTSW |
14 |
14794059 |
critical splice donor site |
probably null |
|
|
R0631:Slc4a7
|
UTSW |
14 |
14757382 |
missense |
probably damaging |
1.00 |
|
R1128:Slc4a7
|
UTSW |
14 |
14733832 |
missense |
probably damaging |
1.00 |
|
R1556:Slc4a7
|
UTSW |
14 |
14778872 |
missense |
probably benign |
0.01 |
|
R1672:Slc4a7
|
UTSW |
14 |
14760247 |
missense |
possibly damaging |
0.91 |
|
R1711:Slc4a7
|
UTSW |
14 |
14765709 |
missense |
probably benign |
0.45 |
|
R1870:Slc4a7
|
UTSW |
14 |
14737509 |
critical splice donor site |
probably null |
|
|
R1939:Slc4a7
|
UTSW |
14 |
14748581 |
missense |
probably damaging |
1.00 |
|
R2012:Slc4a7
|
UTSW |
14 |
14733727 |
nonsense |
probably null |
|
|
R2042:Slc4a7
|
UTSW |
14 |
14737386 |
missense |
probably damaging |
1.00 |
|
R2064:Slc4a7
|
UTSW |
14 |
14733773 |
missense |
probably damaging |
1.00 |
|
R2404:Slc4a7
|
UTSW |
14 |
14733733 |
missense |
probably damaging |
1.00 |
|
R2880:Slc4a7
|
UTSW |
14 |
14773277 |
missense |
probably damaging |
1.00 |
|
R3729:Slc4a7
|
UTSW |
14 |
14729276 |
missense |
probably damaging |
1.00 |
|
R4368:Slc4a7
|
UTSW |
14 |
14733775 |
missense |
probably damaging |
1.00 |
|
R4395:Slc4a7
|
UTSW |
14 |
14765665 |
missense |
probably damaging |
1.00 |
|
R4432:Slc4a7
|
UTSW |
14 |
14757323 |
missense |
probably damaging |
1.00 |
|
R4592:Slc4a7
|
UTSW |
14 |
14778850 |
missense |
probably damaging |
1.00 |
|
R4705:Slc4a7
|
UTSW |
14 |
14733856 |
missense |
probably damaging |
1.00 |
|
R4743:Slc4a7
|
UTSW |
14 |
14796073 |
splice site |
probably null |
|
|
R4765:Slc4a7
|
UTSW |
14 |
14762414 |
missense |
probably damaging |
1.00 |
|
R4831:Slc4a7
|
UTSW |
14 |
14772699 |
critical splice donor site |
probably null |
|
|
R4845:Slc4a7
|
UTSW |
14 |
14733803 |
missense |
probably damaging |
1.00 |
|
R4880:Slc4a7
|
UTSW |
14 |
14757342 |
missense |
probably damaging |
1.00 |
|
R4948:Slc4a7
|
UTSW |
14 |
14771283 |
missense |
possibly damaging |
0.68 |
|
R5348:Slc4a7
|
UTSW |
14 |
14786310 |
missense |
probably benign |
0.02 |
|
R5385:Slc4a7
|
UTSW |
14 |
14773345 |
missense |
possibly damaging |
0.94 |
|
R5418:Slc4a7
|
UTSW |
14 |
14760280 |
missense |
probably benign |
0.25 |
|
R5480:Slc4a7
|
UTSW |
14 |
14782138 |
missense |
probably damaging |
1.00 |
|
R5842:Slc4a7
|
UTSW |
14 |
14778866 |
missense |
probably damaging |
1.00 |
|
R5919:Slc4a7
|
UTSW |
14 |
14791092 |
missense |
probably benign |
|
|
R6063:Slc4a7
|
UTSW |
14 |
14793964 |
missense |
possibly damaging |
0.60 |
|
R6065:Slc4a7
|
UTSW |
14 |
14739836 |
missense |
probably benign |
0.29 |
|
R6549:Slc4a7
|
UTSW |
14 |
14748564 |
missense |
probably damaging |
1.00 |
|
R6845:Slc4a7
|
UTSW |
14 |
14775000 |
missense |
probably damaging |
1.00 |
|
R6870:Slc4a7
|
UTSW |
14 |
14733846 |
missense |
probably damaging |
1.00 |
|
R6881:Slc4a7
|
UTSW |
14 |
14737452 |
missense |
probably benign |
0.43 |
|
R6962:Slc4a7
|
UTSW |
14 |
14746021 |
missense |
probably damaging |
0.99 |
|
R7099:Slc4a7
|
UTSW |
14 |
14733750 |
missense |
probably damaging |
1.00 |
|
R7180:Slc4a7
|
UTSW |
14 |
14765580 |
missense |
probably damaging |
1.00 |
|
R7346:Slc4a7
|
UTSW |
14 |
14775000 |
missense |
probably damaging |
1.00 |
|
R7378:Slc4a7
|
UTSW |
14 |
14757421 |
missense |
probably damaging |
1.00 |
|
R7646:Slc4a7
|
UTSW |
14 |
14773348 |
missense |
probably benign |
0.01 |
|
R7647:Slc4a7
|
UTSW |
14 |
14773348 |
missense |
probably benign |
0.01 |
|
R7648:Slc4a7
|
UTSW |
14 |
14773348 |
missense |
probably benign |
0.01 |
|
R7650:Slc4a7
|
UTSW |
14 |
14773348 |
missense |
probably benign |
0.01 |
|
R7857:Slc4a7
|
UTSW |
14 |
14772624 |
missense |
probably benign |
0.00 |
|
R7892:Slc4a7
|
UTSW |
14 |
14773348 |
missense |
probably benign |
0.01 |
|
R8124:Slc4a7
|
UTSW |
14 |
14729211 |
missense |
possibly damaging |
0.92 |
|
R8225:Slc4a7
|
UTSW |
14 |
14738224 |
nonsense |
probably null |
|
|
X0067:Slc4a7
|
UTSW |
14 |
14771276 |
missense |
possibly damaging |
0.93 |
|
|---|
| Posted On | 2014-05-07 |
|---|
