Incidental Mutation 'R2920:Slc4a5'
| ID |
255466 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc4a5
|
| Ensembl Gene |
ENSMUSG00000068323 |
| Gene Name |
solute carrier family 4, sodium bicarbonate cotransporter, member 5 |
| Synonyms |
C330016K18Rik |
| MMRRC Submission |
040505-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.185)
|
| Stock # |
R2920 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
83196810-83281927 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 83241369 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 215
(L215P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109532
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039212]
[ENSMUST00000113899]
[ENSMUST00000113900]
|
| AlphaFold |
E9Q3M5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039212
AA Change: L215P
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000041007
Gene: ENSMUSG00000068323
AA Change: L215P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Band_3_cyto
|
25 |
292 |
5.2e-102 |
PFAM |
|
low complexity region
|
321 |
350 |
N/A |
INTRINSIC |
|
Pfam:HCO3_cotransp
|
364 |
884 |
1.1e-242 |
PFAM |
|
transmembrane domain
|
891 |
913 |
N/A |
INTRINSIC |
|
low complexity region
|
936 |
951 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113899
AA Change: L215P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000109532
Gene: ENSMUSG00000068323
AA Change: L215P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Band_3_cyto
|
25 |
292 |
2.9e-102 |
PFAM |
|
low complexity region
|
321 |
350 |
N/A |
INTRINSIC |
|
Pfam:HCO3_cotransp
|
364 |
884 |
5.3e-243 |
PFAM |
|
transmembrane domain
|
891 |
913 |
N/A |
INTRINSIC |
|
low complexity region
|
936 |
951 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113900
AA Change: L330P
PolyPhen 2
Score 0.306 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000109533
Gene: ENSMUSG00000068323
AA Change: L330P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Band_3_cyto
|
140 |
407 |
3.4e-106 |
PFAM |
|
low complexity region
|
436 |
465 |
N/A |
INTRINSIC |
|
Pfam:HCO3_cotransp
|
480 |
999 |
1.6e-224 |
PFAM |
|
transmembrane domain
|
1006 |
1028 |
N/A |
INTRINSIC |
|
low complexity region
|
1051 |
1066 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122897
|
| Meta Mutation Damage Score |
0.9523 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
96% (48/50) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the sodium bicarbonate cotransporter (NBC) family, part of the bicarbonate transporter superfamily. Sodium bicarbonate cotransporters are involved in intracellular pH regulation and electroneural or electrogenic sodium bicarbonate transport. This protein is thought to be an integral membrane protein. Multiple transcript variants encoding different isoforms have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit arterial hypertension and renal metabolic acidosis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgb |
A |
G |
10: 10,265,987 (GRCm39) |
Y1025H |
probably damaging |
Het |
| Adgrv1 |
C |
T |
13: 81,596,984 (GRCm39) |
A4122T |
probably benign |
Het |
| Aloxe3 |
C |
T |
11: 69,033,749 (GRCm39) |
T621I |
probably damaging |
Het |
| Atp2b3 |
A |
C |
X: 72,577,526 (GRCm39) |
T318P |
probably benign |
Het |
| Atrx |
A |
T |
X: 104,874,474 (GRCm39) |
V1962D |
probably benign |
Het |
| Chl1 |
C |
A |
6: 103,672,304 (GRCm39) |
T531K |
probably damaging |
Het |
| Clca3b |
T |
A |
3: 144,543,614 (GRCm39) |
D405V |
probably benign |
Het |
| Clca3b |
C |
T |
3: 144,552,692 (GRCm39) |
D115N |
probably benign |
Het |
| Comtd1 |
A |
G |
14: 21,897,686 (GRCm39) |
L149P |
possibly damaging |
Het |
| Cops7a |
A |
G |
6: 124,939,325 (GRCm39) |
V108A |
probably benign |
Het |
| Crebbp |
A |
G |
16: 3,936,946 (GRCm39) |
V343A |
probably damaging |
Het |
| Edrf1 |
T |
A |
7: 133,269,301 (GRCm39) |
D1109E |
probably benign |
Het |
| Elmo3 |
A |
G |
8: 106,034,691 (GRCm39) |
E359G |
possibly damaging |
Het |
| Ep400 |
C |
A |
5: 110,903,780 (GRCm39) |
G273V |
probably damaging |
Het |
| Fgfr3 |
A |
G |
5: 33,891,284 (GRCm39) |
N516S |
probably damaging |
Het |
| Glb1l |
T |
A |
1: 75,185,834 (GRCm39) |
E31D |
probably benign |
Het |
| Hdac1-ps |
A |
G |
17: 78,800,275 (GRCm39) |
D422G |
probably damaging |
Het |
| Il12rb2 |
C |
T |
6: 67,337,552 (GRCm39) |
V110I |
probably damaging |
Het |
| Ints3 |
T |
C |
3: 90,300,469 (GRCm39) |
E884G |
probably benign |
Het |
| Lin7b |
A |
G |
7: 45,017,821 (GRCm39) |
V170A |
possibly damaging |
Het |
| Lrch2 |
A |
T |
X: 146,256,026 (GRCm39) |
V750E |
probably damaging |
Het |
| Mepe |
C |
T |
5: 104,486,113 (GRCm39) |
R418C |
probably damaging |
Het |
| Mettl25 |
A |
T |
10: 105,601,038 (GRCm39) |
|
probably null |
Het |
| Mphosph9 |
G |
A |
5: 124,399,069 (GRCm39) |
T982I |
probably benign |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Myo10 |
G |
T |
15: 25,801,226 (GRCm39) |
V1472L |
probably damaging |
Het |
| Myo9b |
A |
G |
8: 71,778,501 (GRCm39) |
K445R |
probably damaging |
Het |
| Ntng2 |
T |
C |
2: 29,094,223 (GRCm39) |
M383V |
probably benign |
Het |
| Or13n4 |
C |
T |
7: 106,423,571 (GRCm39) |
R54Q |
probably benign |
Het |
| Or2z2 |
T |
C |
11: 58,346,403 (GRCm39) |
Y124C |
probably damaging |
Het |
| Or7a37 |
A |
C |
10: 78,805,846 (GRCm39) |
D121A |
probably damaging |
Het |
| Pak6 |
A |
T |
2: 118,524,488 (GRCm39) |
|
probably benign |
Het |
| Pcdh8 |
G |
T |
14: 80,006,154 (GRCm39) |
P803Q |
possibly damaging |
Het |
| Pfkfb3 |
C |
T |
2: 11,489,138 (GRCm39) |
V286I |
probably benign |
Het |
| Rbp3 |
C |
T |
14: 33,677,975 (GRCm39) |
T641M |
probably damaging |
Het |
| Rint1 |
A |
G |
5: 24,010,400 (GRCm39) |
E203G |
probably benign |
Het |
| Sdf2 |
G |
C |
11: 78,145,680 (GRCm39) |
V126L |
probably damaging |
Het |
| Slc13a5 |
T |
C |
11: 72,138,617 (GRCm39) |
E442G |
possibly damaging |
Het |
| Slc14a2 |
G |
T |
18: 78,201,512 (GRCm39) |
S669* |
probably null |
Het |
| Slc38a7 |
A |
G |
8: 96,572,571 (GRCm39) |
I157T |
possibly damaging |
Het |
| Tbc1d9 |
T |
C |
8: 83,937,098 (GRCm39) |
V60A |
probably benign |
Het |
| Tcerg1l |
T |
C |
7: 137,850,108 (GRCm39) |
R422G |
probably damaging |
Het |
| Tmem107 |
T |
C |
11: 68,962,247 (GRCm39) |
L68P |
probably damaging |
Het |
| Ugt2b5 |
A |
G |
5: 87,273,266 (GRCm39) |
F467L |
possibly damaging |
Het |
| Vmn1r19 |
A |
T |
6: 57,381,909 (GRCm39) |
N154I |
probably benign |
Het |
| Vmn2r69 |
T |
A |
7: 85,060,973 (GRCm39) |
I204L |
probably benign |
Het |
| Zbtb1 |
T |
A |
12: 76,432,619 (GRCm39) |
S202T |
possibly damaging |
Het |
|
| Other mutations in Slc4a5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00235:Slc4a5
|
APN |
6 |
83,262,881 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00473:Slc4a5
|
APN |
6 |
83,273,579 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00861:Slc4a5
|
APN |
6 |
83,276,453 (GRCm39) |
missense |
probably benign |
|
|
IGL01025:Slc4a5
|
APN |
6 |
83,239,515 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01532:Slc4a5
|
APN |
6 |
83,250,022 (GRCm39) |
splice site |
probably null |
|
|
IGL01991:Slc4a5
|
APN |
6 |
83,240,525 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02271:Slc4a5
|
APN |
6 |
83,248,085 (GRCm39) |
splice site |
probably benign |
|
|
IGL02565:Slc4a5
|
APN |
6 |
83,276,487 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02669:Slc4a5
|
APN |
6 |
83,240,525 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL02994:Slc4a5
|
APN |
6 |
83,249,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03259:Slc4a5
|
APN |
6 |
83,247,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03264:Slc4a5
|
APN |
6 |
83,238,507 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0032:Slc4a5
|
UTSW |
6 |
83,250,139 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0091:Slc4a5
|
UTSW |
6 |
83,254,537 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0281:Slc4a5
|
UTSW |
6 |
83,244,549 (GRCm39) |
splice site |
probably benign |
|
|
R0366:Slc4a5
|
UTSW |
6 |
83,272,854 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0668:Slc4a5
|
UTSW |
6 |
83,248,054 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1222:Slc4a5
|
UTSW |
6 |
83,257,114 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1550:Slc4a5
|
UTSW |
6 |
83,248,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1585:Slc4a5
|
UTSW |
6 |
83,242,669 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1731:Slc4a5
|
UTSW |
6 |
83,273,617 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1987:Slc4a5
|
UTSW |
6 |
83,250,214 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2103:Slc4a5
|
UTSW |
6 |
83,274,360 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2103:Slc4a5
|
UTSW |
6 |
83,201,663 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2104:Slc4a5
|
UTSW |
6 |
83,274,360 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2176:Slc4a5
|
UTSW |
6 |
83,239,542 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2964:Slc4a5
|
UTSW |
6 |
83,273,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2965:Slc4a5
|
UTSW |
6 |
83,273,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2966:Slc4a5
|
UTSW |
6 |
83,273,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3755:Slc4a5
|
UTSW |
6 |
83,265,285 (GRCm39) |
missense |
probably benign |
0.26 |
|
R3756:Slc4a5
|
UTSW |
6 |
83,265,285 (GRCm39) |
missense |
probably benign |
0.26 |
|
R4293:Slc4a5
|
UTSW |
6 |
83,237,511 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4789:Slc4a5
|
UTSW |
6 |
83,247,951 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4823:Slc4a5
|
UTSW |
6 |
83,249,115 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4854:Slc4a5
|
UTSW |
6 |
83,247,999 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5461:Slc4a5
|
UTSW |
6 |
83,262,836 (GRCm39) |
missense |
probably benign |
0.29 |
|
R5707:Slc4a5
|
UTSW |
6 |
83,238,397 (GRCm39) |
missense |
probably benign |
0.11 |
|
R5747:Slc4a5
|
UTSW |
6 |
83,248,011 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5978:Slc4a5
|
UTSW |
6 |
83,254,518 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6126:Slc4a5
|
UTSW |
6 |
83,203,247 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6330:Slc4a5
|
UTSW |
6 |
83,203,356 (GRCm39) |
missense |
probably benign |
|
|
R6564:Slc4a5
|
UTSW |
6 |
83,257,042 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R6786:Slc4a5
|
UTSW |
6 |
83,273,729 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7443:Slc4a5
|
UTSW |
6 |
83,241,297 (GRCm39) |
missense |
probably benign |
0.45 |
|
R7672:Slc4a5
|
UTSW |
6 |
83,237,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7690:Slc4a5
|
UTSW |
6 |
83,262,854 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7837:Slc4a5
|
UTSW |
6 |
83,238,539 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8169:Slc4a5
|
UTSW |
6 |
83,280,373 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8288:Slc4a5
|
UTSW |
6 |
83,203,237 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8397:Slc4a5
|
UTSW |
6 |
83,266,308 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8849:Slc4a5
|
UTSW |
6 |
83,250,180 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9033:Slc4a5
|
UTSW |
6 |
83,237,457 (GRCm39) |
nonsense |
probably null |
|
|
R9133:Slc4a5
|
UTSW |
6 |
83,203,217 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9201:Slc4a5
|
UTSW |
6 |
83,262,812 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9269:Slc4a5
|
UTSW |
6 |
83,266,223 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9603:Slc4a5
|
UTSW |
6 |
83,217,714 (GRCm39) |
missense |
probably benign |
0.34 |
|
R9781:Slc4a5
|
UTSW |
6 |
83,239,466 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Slc4a5
|
UTSW |
6 |
83,257,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCATGCCAGGTCTTCTTGG -3'
(R):5'- GAGCATCCTTACATTTGCATTGC -3'
Sequencing Primer
(F):5'- GGTGTGTCATTTTCCTCCCGG -3'
(R):5'- GGCATCCTTCAAGACAGGGTTTC -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation