Incidental Mutation 'R9798:Slc4a7'
| ID |
735066 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.898)
|
| Stock # |
R9798 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
7669819-7766808 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 14782056 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 937
(D937G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058313
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057015]
[ENSMUST00000223607]
[ENSMUST00000223695]
[ENSMUST00000223740]
[ENSMUST00000223761]
[ENSMUST00000223981]
[ENSMUST00000224049]
[ENSMUST00000224222]
[ENSMUST00000224333]
[ENSMUST00000224672]
[ENSMUST00000224752]
[ENSMUST00000225175]
[ENSMUST00000225232]
[ENSMUST00000225238]
[ENSMUST00000225630]
[ENSMUST00000225979]
[ENSMUST00000226079]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000057015
AA Change: D937G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000058313
Gene: ENSMUSG00000021733
AA Change: D937G
| 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 null
Transcript: ENSMUST00000223607
AA Change: *1050W
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000223695
AA Change: *951W
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000223740
AA Change: *944W
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000223761
AA Change: *1061W
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000223981
AA Change: *1063W
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000224049
AA Change: *931W
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000224222
AA Change: *1050W
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000224333
AA Change: *1069W
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000224672
AA Change: *1054W
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000224752
AA Change: *1055W
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000224952
AA Change: *977W
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000225175
AA Change: *1048W
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000225232
AA Change: *841W
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000225238
AA Change: *958W
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000225630
AA Change: *925W
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000225979
AA Change: *945W
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000226079
AA Change: *938W
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.3%
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930486L24Rik |
A |
T |
13: 61,000,934 (GRCm39) |
S201T |
possibly damaging |
Het |
| Adamtsl1 |
A |
G |
4: 86,074,927 (GRCm39) |
D98G |
probably damaging |
Het |
| Ahnak |
A |
G |
19: 8,990,983 (GRCm39) |
D4089G |
probably damaging |
Het |
| Alpk3 |
T |
A |
7: 80,742,400 (GRCm39) |
M739K |
probably benign |
Het |
| Asns |
T |
C |
6: 7,689,395 (GRCm39) |
N36D |
possibly damaging |
Het |
| Bbs7 |
A |
T |
3: 36,652,439 (GRCm39) |
M338K |
probably benign |
Het |
| Bbx |
T |
C |
16: 50,045,121 (GRCm39) |
D480G |
probably damaging |
Het |
| Cc2d2b |
G |
A |
19: 40,783,080 (GRCm39) |
V626I |
unknown |
Het |
| Celsr3 |
A |
T |
9: 108,705,794 (GRCm39) |
D759V |
probably damaging |
Het |
| Entpd1 |
G |
A |
19: 40,715,789 (GRCm39) |
V319M |
possibly damaging |
Het |
| Espnl |
G |
T |
1: 91,251,286 (GRCm39) |
G127V |
probably damaging |
Het |
| Fgfr1 |
C |
T |
8: 26,053,523 (GRCm39) |
T266I |
unknown |
Het |
| Fktn |
C |
T |
4: 53,747,128 (GRCm39) |
H344Y |
probably damaging |
Het |
| Fryl |
T |
C |
5: 73,192,402 (GRCm39) |
M2678V |
probably benign |
Het |
| Fsip2 |
T |
A |
2: 82,810,225 (GRCm39) |
Y2181* |
probably null |
Het |
| Gm21698 |
A |
T |
5: 26,189,184 (GRCm39) |
D256E |
probably damaging |
Het |
| Hipk1 |
C |
T |
3: 103,651,431 (GRCm39) |
V1156I |
possibly damaging |
Het |
| Igsf10 |
T |
A |
3: 59,239,126 (GRCm39) |
I352F |
probably damaging |
Het |
| Igsf5 |
C |
A |
16: 96,174,075 (GRCm39) |
T35K |
probably damaging |
Het |
| Il23a |
G |
C |
10: 128,132,829 (GRCm39) |
R143G |
probably benign |
Het |
| Kctd11 |
T |
G |
11: 69,770,732 (GRCm39) |
H102P |
probably damaging |
Het |
| Msln |
T |
C |
17: 25,972,771 (GRCm39) |
T37A |
probably benign |
Het |
| Or7g29 |
T |
A |
9: 19,286,577 (GRCm39) |
Y200F |
probably benign |
Het |
| Or8u10 |
T |
C |
2: 85,915,606 (GRCm39) |
N172D |
probably damaging |
Het |
| Phtf1 |
T |
C |
3: 103,904,869 (GRCm39) |
S506P |
probably benign |
Het |
| Pias3 |
T |
C |
3: 96,606,881 (GRCm39) |
I57T |
probably damaging |
Het |
| Psmc2 |
A |
G |
5: 22,000,806 (GRCm39) |
I94V |
probably benign |
Het |
| Ripor1 |
T |
C |
8: 106,342,798 (GRCm39) |
Y224H |
possibly damaging |
Het |
| Rrh |
C |
T |
3: 129,605,421 (GRCm39) |
V229M |
probably damaging |
Het |
| Scaf4 |
G |
A |
16: 90,045,533 (GRCm39) |
R526C |
unknown |
Het |
| Slc1a6 |
G |
A |
10: 78,629,167 (GRCm39) |
|
probably null |
Het |
| Slco1b2 |
C |
A |
6: 141,601,079 (GRCm39) |
T134K |
probably damaging |
Het |
| Sptbn4 |
T |
C |
7: 27,056,717 (GRCm39) |
*2562W |
probably null |
Het |
| Ston1 |
T |
C |
17: 88,944,472 (GRCm39) |
V626A |
probably damaging |
Het |
| Synpo |
A |
T |
18: 60,736,832 (GRCm39) |
D371E |
possibly damaging |
Het |
| Tex15 |
T |
A |
8: 34,062,721 (GRCm39) |
V717D |
probably damaging |
Het |
| Tmod3 |
A |
C |
9: 75,436,805 (GRCm39) |
N43K |
probably damaging |
Het |
| Tmod3 |
G |
T |
9: 75,436,801 (GRCm39) |
L45I |
possibly damaging |
Het |
| Tmod3 |
G |
C |
9: 75,436,803 (GRCm39) |
A44G |
probably damaging |
Het |
| Top2b |
T |
C |
14: 16,389,845 (GRCm38) |
F228L |
probably damaging |
Het |
| Trappc14 |
A |
G |
5: 138,259,940 (GRCm39) |
M372T |
possibly damaging |
Het |
| Ush2a |
A |
G |
1: 188,644,002 (GRCm39) |
T4455A |
possibly damaging |
Het |
| Vmn1r178 |
C |
A |
7: 23,593,733 (GRCm39) |
Y260* |
probably null |
Het |
| Vps13c |
T |
A |
9: 67,826,646 (GRCm39) |
I1429N |
probably damaging |
Het |
| Wdr31 |
A |
G |
4: 62,381,651 (GRCm39) |
V60A |
probably benign |
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 |
|
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 |
|
|
X0067:Slc4a7
|
UTSW |
14 |
14,771,276 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGTGCATTTGGAACTTGACTAAG -3'
(R):5'- GATACATTTCTTCCTCAGGGCC -3'
Sequencing Primer
(F):5'- GGCTAGCTTGAACCTACAGTAGTC -3'
(R):5'- ATCTGAAAAATTCACCATCATGGG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation