Incidental Mutation 'R9426:Slc4a11'
| ID |
712612 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc4a11
|
| Ensembl Gene |
ENSMUSG00000074796 |
| Gene Name |
solute carrier family 4, sodium bicarbonate transporter-like, member 11 |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.433)
|
| Stock # |
R9426 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
130526033-130539439 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 130533664 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 100
(A100T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096963
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099362]
[ENSMUST00000127397]
|
| AlphaFold |
A2AJN7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099362
AA Change: A100T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000096963
Gene: ENSMUSG00000074796
AA Change: A100T
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1a3aa_
|
199 |
276 |
5e-5 |
SMART |
|
Pfam:HCO3_cotransp
|
308 |
806 |
9.7e-153 |
PFAM |
|
transmembrane domain
|
827 |
844 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000127397
AA Change: A100T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a voltage-regulated, electrogenic sodium-coupled borate cotransporter that is essential for borate homeostasis, cell growth and cell proliferation. Mutations in this gene have been associated with a number of endothelial corneal dystrophies including recessive corneal endothelial dystrophy 2, corneal dystrophy and perceptive deafness, and Fuchs endothelial corneal dystrophy. Multiple transcript variants encoding different isoforms have been described. [provided by RefSeq, Mar 2010]
PHENOTYPE: Mice homozygous for a gene trapped allele show a collapsed vestibular labyrinth, reduced brainstem auditory potentials, and altered corneal epithelium. Mice homozygous for a reporter allele show corneal endothelial dystrophy, polyuria, natriuresis, urinehypoosmolarity and impaired hearing. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
A |
G |
10: 79,851,264 (GRCm39) |
D2159G |
possibly damaging |
Het |
| Adamts8 |
A |
G |
9: 30,864,721 (GRCm39) |
Y404C |
possibly damaging |
Het |
| Adprhl1 |
A |
G |
8: 13,274,034 (GRCm39) |
F908S |
possibly damaging |
Het |
| Arhgef16 |
A |
C |
4: 154,366,300 (GRCm39) |
L489R |
probably damaging |
Het |
| Asmt |
G |
A |
X: 169,110,199 (GRCm39) |
G236E |
probably damaging |
Het |
| Ces2e |
A |
G |
8: 105,656,220 (GRCm39) |
Y177C |
probably damaging |
Het |
| Cfap43 |
A |
G |
19: 47,814,237 (GRCm39) |
I199T |
probably damaging |
Het |
| Chac1 |
T |
A |
2: 119,183,914 (GRCm39) |
F172Y |
possibly damaging |
Het |
| Cldnd2 |
A |
T |
7: 43,092,688 (GRCm39) |
I160F |
possibly damaging |
Het |
| Col15a1 |
G |
C |
4: 47,288,200 (GRCm39) |
|
probably benign |
Het |
| Coq10b |
C |
G |
1: 55,106,719 (GRCm39) |
L175V |
possibly damaging |
Het |
| Cpne6 |
T |
C |
14: 55,751,176 (GRCm39) |
|
probably null |
Het |
| Dnai4 |
A |
T |
4: 102,906,743 (GRCm39) |
I690N |
probably damaging |
Het |
| Eif2b3 |
C |
A |
4: 116,923,578 (GRCm39) |
Y264* |
probably null |
Het |
| Fcgbpl1 |
A |
T |
7: 27,843,281 (GRCm39) |
H723L |
possibly damaging |
Het |
| Fhod1 |
C |
T |
8: 106,056,490 (GRCm39) |
R1100Q |
probably benign |
Het |
| Hao1 |
T |
A |
2: 134,347,555 (GRCm39) |
H250L |
probably benign |
Het |
| Has3 |
A |
G |
8: 107,600,823 (GRCm39) |
Y95C |
probably damaging |
Het |
| Hoxc10 |
A |
T |
15: 102,879,289 (GRCm39) |
K270* |
probably null |
Het |
| Kcnq5 |
A |
G |
1: 21,473,118 (GRCm39) |
F710L |
probably benign |
Het |
| Knl1 |
C |
T |
2: 118,899,979 (GRCm39) |
T560I |
possibly damaging |
Het |
| Ltbp1 |
C |
T |
17: 75,598,309 (GRCm39) |
R597W |
possibly damaging |
Het |
| Nfib |
T |
G |
4: 82,416,529 (GRCm39) |
T170P |
probably damaging |
Het |
| Nup210l |
C |
T |
3: 90,107,173 (GRCm39) |
P1570L |
probably benign |
Het |
| Optn |
T |
A |
2: 5,059,485 (GRCm39) |
E11V |
possibly damaging |
Het |
| Or4d2b |
A |
T |
11: 87,780,056 (GRCm39) |
L222Q |
probably damaging |
Het |
| Phf3 |
A |
T |
1: 30,870,625 (GRCm39) |
L141* |
probably null |
Het |
| Pigt |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
2: 164,341,589 (GRCm39) |
|
probably null |
Het |
| Pramel39-ps |
G |
T |
5: 94,451,001 (GRCm39) |
P375H |
probably damaging |
Het |
| Prkcg |
C |
T |
7: 3,375,975 (GRCm39) |
S540F |
probably damaging |
Het |
| Ptbp1 |
T |
A |
10: 79,694,897 (GRCm39) |
I75N |
probably damaging |
Het |
| R3hdm1 |
T |
C |
1: 128,164,212 (GRCm39) |
L1042P |
probably damaging |
Het |
| Scmh1 |
T |
C |
4: 120,362,556 (GRCm39) |
V264A |
probably benign |
Het |
| Sec23a |
A |
G |
12: 59,053,890 (GRCm39) |
V36A |
probably benign |
Het |
| Senp2 |
A |
G |
16: 21,828,491 (GRCm39) |
S34G |
probably damaging |
Het |
| Serpina3a |
A |
G |
12: 104,087,649 (GRCm39) |
N191D |
probably benign |
Het |
| Smchd1 |
C |
T |
17: 71,672,125 (GRCm39) |
S1643N |
probably benign |
Het |
| Snrk |
T |
A |
9: 121,986,326 (GRCm39) |
Y232N |
probably damaging |
Het |
| Spata31h1 |
T |
A |
10: 82,126,610 (GRCm39) |
K2133N |
probably damaging |
Het |
| Spmip3 |
T |
A |
1: 177,570,834 (GRCm39) |
L56* |
probably null |
Het |
| St6galnac6 |
T |
C |
2: 32,505,094 (GRCm39) |
I202T |
probably damaging |
Het |
| Stab2 |
T |
C |
10: 86,704,911 (GRCm39) |
K1819R |
probably damaging |
Het |
| Strn3 |
T |
C |
12: 51,694,873 (GRCm39) |
T297A |
probably damaging |
Het |
| Sult1b1 |
T |
A |
5: 87,665,280 (GRCm39) |
E218V |
probably damaging |
Het |
| Tcp10c |
T |
C |
17: 13,584,463 (GRCm39) |
S275P |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,715,357 (GRCm39) |
E7912K |
unknown |
Het |
| Urb2 |
T |
G |
8: 124,755,285 (GRCm39) |
L331V |
probably damaging |
Het |
| Zfp592 |
A |
T |
7: 80,674,205 (GRCm39) |
T390S |
probably damaging |
Het |
|
| Other mutations in Slc4a11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00474:Slc4a11
|
APN |
2 |
130,530,058 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL01292:Slc4a11
|
APN |
2 |
130,532,752 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01330:Slc4a11
|
APN |
2 |
130,529,602 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL01349:Slc4a11
|
APN |
2 |
130,528,863 (GRCm39) |
missense |
probably benign |
0.33 |
|
IGL01474:Slc4a11
|
APN |
2 |
130,527,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01528:Slc4a11
|
APN |
2 |
130,527,328 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01752:Slc4a11
|
APN |
2 |
130,530,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01859:Slc4a11
|
APN |
2 |
130,526,914 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01914:Slc4a11
|
APN |
2 |
130,529,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02367:Slc4a11
|
APN |
2 |
130,526,879 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02373:Slc4a11
|
APN |
2 |
130,526,818 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL02516:Slc4a11
|
APN |
2 |
130,533,313 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL02894:Slc4a11
|
APN |
2 |
130,529,075 (GRCm39) |
splice site |
probably null |
|
|
R0029:Slc4a11
|
UTSW |
2 |
130,529,974 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0077:Slc4a11
|
UTSW |
2 |
130,528,221 (GRCm39) |
unclassified |
probably benign |
|
|
R0270:Slc4a11
|
UTSW |
2 |
130,532,852 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0502:Slc4a11
|
UTSW |
2 |
130,530,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1316:Slc4a11
|
UTSW |
2 |
130,528,071 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1628:Slc4a11
|
UTSW |
2 |
130,529,047 (GRCm39) |
splice site |
probably null |
|
|
R1859:Slc4a11
|
UTSW |
2 |
130,529,932 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2235:Slc4a11
|
UTSW |
2 |
130,527,544 (GRCm39) |
missense |
probably benign |
0.19 |
|
R2247:Slc4a11
|
UTSW |
2 |
130,529,721 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2332:Slc4a11
|
UTSW |
2 |
130,526,379 (GRCm39) |
missense |
probably benign |
0.17 |
|
R3840:Slc4a11
|
UTSW |
2 |
130,529,974 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3890:Slc4a11
|
UTSW |
2 |
130,527,705 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4296:Slc4a11
|
UTSW |
2 |
130,526,927 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4304:Slc4a11
|
UTSW |
2 |
130,530,058 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4749:Slc4a11
|
UTSW |
2 |
130,532,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4927:Slc4a11
|
UTSW |
2 |
130,526,866 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4939:Slc4a11
|
UTSW |
2 |
130,526,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5756:Slc4a11
|
UTSW |
2 |
130,529,783 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5869:Slc4a11
|
UTSW |
2 |
130,526,379 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5905:Slc4a11
|
UTSW |
2 |
130,526,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6709:Slc4a11
|
UTSW |
2 |
130,526,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7337:Slc4a11
|
UTSW |
2 |
130,527,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7909:Slc4a11
|
UTSW |
2 |
130,534,220 (GRCm39) |
missense |
probably benign |
|
|
R8881:Slc4a11
|
UTSW |
2 |
130,527,457 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8889:Slc4a11
|
UTSW |
2 |
130,529,140 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8892:Slc4a11
|
UTSW |
2 |
130,529,140 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9006:Slc4a11
|
UTSW |
2 |
130,532,773 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9038:Slc4a11
|
UTSW |
2 |
130,533,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9162:Slc4a11
|
UTSW |
2 |
130,534,214 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9239:Slc4a11
|
UTSW |
2 |
130,533,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9240:Slc4a11
|
UTSW |
2 |
130,533,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9241:Slc4a11
|
UTSW |
2 |
130,533,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9323:Slc4a11
|
UTSW |
2 |
130,528,830 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9361:Slc4a11
|
UTSW |
2 |
130,533,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9363:Slc4a11
|
UTSW |
2 |
130,533,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9418:Slc4a11
|
UTSW |
2 |
130,533,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9419:Slc4a11
|
UTSW |
2 |
130,533,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9420:Slc4a11
|
UTSW |
2 |
130,533,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9421:Slc4a11
|
UTSW |
2 |
130,533,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9431:Slc4a11
|
UTSW |
2 |
130,533,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9609:Slc4a11
|
UTSW |
2 |
130,530,035 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
Z1177:Slc4a11
|
UTSW |
2 |
130,533,555 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTACCCTTGCTCTCCATAGGGG -3'
(R):5'- ATGTTCCCAGGCGTTCCTAAAC -3'
Sequencing Primer
(F):5'- GCTCCAGCATCTGTAAAGAGCTTAG -3'
(R):5'- GCGTTCCTAAACAGGGATCTCAG -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation