Incidental Mutation 'R3729:Slc4a7'
| ID |
270894 |
| 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 |
040719-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.925)
|
| Stock # |
R3729 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
7669819-7766808 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 14729276 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 47
(E47D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152950
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057015]
[ENSMUST00000223607]
[ENSMUST00000223695]
[ENSMUST00000223740]
[ENSMUST00000223761]
[ENSMUST00000223981]
[ENSMUST00000224049]
[ENSMUST00000225630]
[ENSMUST00000226079]
[ENSMUST00000224752]
[ENSMUST00000225979]
[ENSMUST00000224222]
[ENSMUST00000224333]
[ENSMUST00000225175]
[ENSMUST00000225232]
[ENSMUST00000224672]
[ENSMUST00000225238]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057015
AA Change: E41D
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000058313
Gene: ENSMUSG00000021733
AA Change: E41D
| 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: E41D
PolyPhen 2
Score 0.540 (Sensitivity: 0.88; Specificity: 0.90)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223695
AA Change: E47D
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223740
AA Change: E47D
PolyPhen 2
Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223761
AA Change: E41D
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000223981
AA Change: E41D
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224049
AA Change: E47D
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225630
AA Change: E41D
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226079
AA Change: E41D
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224752
AA Change: E46D
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225979
AA Change: E41D
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000224222
AA Change: E41D
PolyPhen 2
Score 0.540 (Sensitivity: 0.88; Specificity: 0.90)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224333
AA Change: E47D
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225175
AA Change: E41D
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225232
AA Change: E41D
PolyPhen 2
Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224672
AA Change: E47D
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225238
AA Change: E41D
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224952
AA Change: E60D
PolyPhen 2
Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225496
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224197
|
| Meta Mutation Damage Score |
0.1136 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
100% (48/48) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
A |
G |
5: 114,345,409 (GRCm39) |
D954G |
probably damaging |
Het |
| Acvr1 |
T |
C |
2: 58,352,925 (GRCm39) |
K345R |
probably null |
Het |
| Aldoart2 |
A |
G |
12: 55,613,104 (GRCm39) |
Y343C |
probably damaging |
Het |
| Arpp21 |
T |
A |
9: 111,895,047 (GRCm39) |
Y739F |
possibly damaging |
Het |
| Cachd1 |
C |
A |
4: 100,832,077 (GRCm39) |
Y746* |
probably null |
Het |
| Card14 |
T |
C |
11: 119,224,758 (GRCm39) |
V595A |
probably damaging |
Het |
| Dhx33 |
T |
C |
11: 70,879,978 (GRCm39) |
D344G |
probably benign |
Het |
| Dnah12 |
T |
A |
14: 26,427,220 (GRCm39) |
D171E |
probably benign |
Het |
| Fat3 |
A |
G |
9: 16,158,337 (GRCm39) |
|
probably benign |
Het |
| Fmnl3 |
A |
G |
15: 99,219,745 (GRCm39) |
F668L |
probably damaging |
Het |
| Frmpd4 |
G |
A |
X: 166,269,803 (GRCm39) |
T493M |
probably damaging |
Het |
| Gcn1 |
A |
T |
5: 115,721,453 (GRCm39) |
|
probably benign |
Het |
| Hspbp1 |
G |
T |
7: 4,680,808 (GRCm39) |
Q223K |
probably damaging |
Het |
| Ighv1-19 |
C |
A |
12: 114,672,497 (GRCm39) |
C40F |
probably damaging |
Het |
| Igkv4-90 |
A |
G |
6: 68,784,665 (GRCm39) |
F10L |
probably benign |
Het |
| Kctd5 |
T |
C |
17: 24,278,212 (GRCm39) |
D146G |
probably benign |
Het |
| Kif4-ps |
A |
G |
12: 101,112,369 (GRCm39) |
E166G |
probably damaging |
Het |
| Lemd3 |
T |
C |
10: 120,763,920 (GRCm39) |
D780G |
probably damaging |
Het |
| Manba |
G |
A |
3: 135,260,611 (GRCm39) |
V599I |
probably benign |
Het |
| Map2 |
A |
G |
1: 66,451,605 (GRCm39) |
E247G |
possibly damaging |
Het |
| Mfsd1 |
T |
C |
3: 67,490,298 (GRCm39) |
F50L |
probably benign |
Het |
| Mier2 |
T |
C |
10: 79,380,876 (GRCm39) |
|
probably benign |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Nol10 |
A |
T |
12: 17,474,674 (GRCm39) |
K622I |
probably benign |
Het |
| Or5p62 |
A |
T |
7: 107,771,516 (GRCm39) |
I145N |
probably benign |
Het |
| Or8d2b |
T |
C |
9: 38,788,547 (GRCm39) |
F25S |
probably damaging |
Het |
| Phtf1 |
A |
G |
3: 103,893,095 (GRCm39) |
M120V |
probably benign |
Het |
| Prrx1 |
A |
G |
1: 163,089,446 (GRCm39) |
L127P |
probably damaging |
Het |
| Rbsn |
T |
C |
6: 92,168,316 (GRCm39) |
M373V |
possibly damaging |
Het |
| Sec24b |
T |
C |
3: 129,827,482 (GRCm39) |
K203R |
possibly damaging |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Slc16a10 |
G |
C |
10: 39,932,620 (GRCm39) |
H314D |
possibly damaging |
Het |
| Taf12 |
C |
A |
4: 132,010,265 (GRCm39) |
P78Q |
probably damaging |
Het |
| Tnn |
A |
G |
1: 159,973,810 (GRCm39) |
C186R |
probably damaging |
Het |
| Trim46 |
T |
A |
3: 89,142,256 (GRCm39) |
T721S |
probably benign |
Het |
| Trip4 |
T |
C |
9: 65,788,224 (GRCm39) |
N74D |
possibly damaging |
Het |
| Tssk5 |
C |
T |
15: 76,257,096 (GRCm39) |
R262H |
probably benign |
Het |
| Vegfa |
T |
C |
17: 46,335,446 (GRCm39) |
I105V |
possibly damaging |
Het |
| Vmn2r14 |
T |
C |
5: 109,364,095 (GRCm39) |
Y607C |
probably damaging |
Het |
| Wdr83 |
G |
T |
8: 85,806,968 (GRCm39) |
H66Q |
probably damaging |
Het |
| Zfp280b |
A |
G |
10: 75,874,936 (GRCm39) |
T272A |
probably benign |
Het |
| Zfp960 |
T |
A |
17: 17,308,633 (GRCm39) |
L449H |
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 |
|
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'- ACTTTGTGAGAAGGCATCTGG -3'
(R):5'- GGCTTTCAGAAATCTATCGATGCC -3'
Sequencing Primer
(F):5'- AGAAGGCATCTGGTTTTGGCTC -3'
(R):5'- TCTGACCATAAGATGAGCGTCTGC -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation