Incidental Mutation 'R8881:Slc4a11'
| ID |
676894 |
| 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 |
068749-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.488)
|
| Stock # |
R8881 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
130526033-130539439 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 130527457 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 646
(E646G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096963
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099362]
[ENSMUST00000103193]
|
| AlphaFold |
A2AJN7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099362
AA Change: E646G
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000096963
Gene: ENSMUSG00000074796
AA Change: E646G
| 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 benign
Transcript: ENSMUST00000103193
|
| SMART Domains |
Protein: ENSMUSP00000099482
Gene: ENSMUSG00000074797
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ham1p_like
|
10 |
188 |
4.3e-54 |
PFAM |
|
| Meta Mutation Damage Score |
0.7835 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.5%
|
| Validation Efficiency |
100% (69/69) |
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
G |
A |
7: 120,074,794 (GRCm39) |
C612Y |
probably benign |
Het |
| Adam21 |
T |
C |
12: 81,606,650 (GRCm39) |
T371A |
probably benign |
Het |
| Akap9 |
T |
C |
5: 4,011,279 (GRCm39) |
S661P |
|
Het |
| Anxa11 |
C |
T |
14: 25,874,687 (GRCm39) |
R233C |
probably damaging |
Het |
| Capza3 |
A |
C |
6: 139,987,521 (GRCm39) |
D40A |
probably damaging |
Het |
| Caskin1 |
C |
A |
17: 24,718,273 (GRCm39) |
N294K |
probably damaging |
Het |
| Cdh1 |
T |
C |
8: 107,392,904 (GRCm39) |
V796A |
probably benign |
Het |
| Cfap251 |
C |
T |
5: 123,462,438 (GRCm39) |
P1249L |
probably damaging |
Het |
| Cped1 |
A |
T |
6: 22,119,578 (GRCm39) |
T346S |
possibly damaging |
Het |
| Crisp4 |
A |
T |
1: 18,185,902 (GRCm39) |
V278D |
probably damaging |
Het |
| Ddx60 |
A |
C |
8: 62,474,343 (GRCm39) |
D1477A |
possibly damaging |
Het |
| Dmrtb1 |
T |
C |
4: 107,537,922 (GRCm39) |
D82G |
possibly damaging |
Het |
| Dnah11 |
T |
C |
12: 118,077,647 (GRCm39) |
N1282S |
probably benign |
Het |
| Dnah11 |
C |
T |
12: 118,090,550 (GRCm39) |
V1104M |
probably benign |
Het |
| Dot1l |
A |
G |
10: 80,621,429 (GRCm39) |
E630G |
probably damaging |
Het |
| Dppa4 |
C |
A |
16: 48,108,299 (GRCm39) |
T28K |
|
Het |
| Dusp5 |
T |
A |
19: 53,529,745 (GRCm39) |
S383T |
probably benign |
Het |
| Eef2k |
C |
T |
7: 120,472,548 (GRCm39) |
A87V |
probably damaging |
Het |
| Epha1 |
T |
C |
6: 42,337,961 (GRCm39) |
Y828C |
probably damaging |
Het |
| Erbb4 |
A |
C |
1: 68,382,997 (GRCm39) |
|
probably null |
Het |
| Fam151b |
T |
A |
13: 92,604,630 (GRCm39) |
M120L |
probably benign |
Het |
| Fam237b |
A |
C |
5: 5,625,379 (GRCm39) |
D25A |
possibly damaging |
Het |
| Fez2 |
T |
C |
17: 78,689,051 (GRCm39) |
D366G |
probably damaging |
Het |
| Frmd4b |
G |
T |
6: 97,272,735 (GRCm39) |
H886N |
probably benign |
Het |
| Galnt17 |
T |
C |
5: 130,906,635 (GRCm39) |
H511R |
probably benign |
Het |
| Grpel1 |
C |
A |
5: 36,626,816 (GRCm39) |
Q33K |
possibly damaging |
Het |
| Gzmm |
A |
C |
10: 79,530,819 (GRCm39) |
|
probably null |
Het |
| Hmcn1 |
C |
A |
1: 150,525,723 (GRCm39) |
L3333F |
probably damaging |
Het |
| Il21r |
A |
T |
7: 125,231,498 (GRCm39) |
T309S |
probably benign |
Het |
| Itgal |
G |
A |
7: 126,929,541 (GRCm39) |
V1153M |
probably benign |
Het |
| Kdf1 |
G |
A |
4: 133,257,654 (GRCm39) |
A390T |
possibly damaging |
Het |
| Lcn11 |
G |
T |
2: 25,669,296 (GRCm39) |
R151L |
probably benign |
Het |
| Lgi3 |
T |
A |
14: 70,770,282 (GRCm39) |
Y116N |
probably damaging |
Het |
| Llgl2 |
A |
G |
11: 115,743,866 (GRCm39) |
H731R |
probably benign |
Het |
| Lrp5 |
A |
T |
19: 3,641,015 (GRCm39) |
S1482T |
probably damaging |
Het |
| Meis2 |
T |
C |
2: 115,889,116 (GRCm39) |
D212G |
probably benign |
Het |
| Mrgpra9 |
A |
G |
7: 46,885,242 (GRCm39) |
C142R |
possibly damaging |
Het |
| Mrgprf |
A |
G |
7: 144,861,999 (GRCm39) |
H187R |
probably benign |
Het |
| Mvd |
A |
G |
8: 123,164,564 (GRCm39) |
|
probably null |
Het |
| Neb |
T |
C |
2: 52,096,999 (GRCm39) |
I4938M |
possibly damaging |
Het |
| Nipal4 |
A |
T |
11: 46,042,177 (GRCm39) |
M168K |
probably benign |
Het |
| Nr1h4 |
A |
G |
10: 89,319,351 (GRCm39) |
Y158H |
probably damaging |
Het |
| Nrxn2 |
T |
C |
19: 6,554,920 (GRCm39) |
I1133T |
probably benign |
Het |
| Numa1 |
T |
C |
7: 101,650,684 (GRCm39) |
Y1472H |
probably benign |
Het |
| Or10ak8 |
A |
G |
4: 118,774,571 (GRCm39) |
V31A |
probably benign |
Het |
| Or12j3 |
A |
G |
7: 139,952,698 (GRCm39) |
V275A |
probably benign |
Het |
| Or2y10 |
G |
A |
11: 49,455,209 (GRCm39) |
V154M |
probably benign |
Het |
| Or3a1d |
T |
C |
11: 74,237,471 (GRCm39) |
D313G |
probably benign |
Het |
| Or52h7 |
A |
G |
7: 104,213,619 (GRCm39) |
M64V |
possibly damaging |
Het |
| Pate7 |
T |
A |
9: 35,689,384 (GRCm39) |
|
probably benign |
Het |
| Pcdha6 |
G |
T |
18: 37,101,484 (GRCm39) |
V226F |
probably damaging |
Het |
| Pnpla6 |
G |
A |
8: 3,581,489 (GRCm39) |
M605I |
probably benign |
Het |
| Ppp1r13l |
G |
A |
7: 19,105,194 (GRCm39) |
R322H |
probably damaging |
Het |
| Sgtb |
T |
C |
13: 104,258,046 (GRCm39) |
|
probably null |
Het |
| Skint6 |
T |
C |
4: 112,672,716 (GRCm39) |
K1086E |
possibly damaging |
Het |
| Speg |
G |
T |
1: 75,377,795 (GRCm39) |
R851L |
possibly damaging |
Het |
| Spns3 |
T |
G |
11: 72,429,912 (GRCm39) |
D172A |
probably damaging |
Het |
| Srgap3 |
A |
G |
6: 112,700,098 (GRCm39) |
V984A |
probably benign |
Het |
| Syne1 |
A |
T |
10: 5,223,639 (GRCm39) |
D3080E |
probably damaging |
Het |
| Taf5l |
T |
C |
8: 124,730,101 (GRCm39) |
H196R |
possibly damaging |
Het |
| Tmem229a |
G |
C |
6: 24,955,587 (GRCm39) |
R56G |
probably damaging |
Het |
| Tmprss6 |
A |
C |
15: 78,327,987 (GRCm39) |
*582G |
probably null |
Het |
| Trip13 |
C |
A |
13: 74,077,795 (GRCm39) |
R173L |
possibly damaging |
Het |
| Trpm7 |
A |
T |
2: 126,661,883 (GRCm39) |
V1055E |
probably damaging |
Het |
| Utrn |
A |
G |
10: 12,423,737 (GRCm39) |
I2T |
possibly damaging |
Het |
| V1rd19 |
T |
A |
7: 23,703,081 (GRCm39) |
S182R |
possibly damaging |
Het |
| Vmn2r58 |
C |
A |
7: 41,486,609 (GRCm39) |
G762V |
probably benign |
Het |
| Zfp874b |
T |
C |
13: 67,622,141 (GRCm39) |
K386E |
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 |
|
|
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 |
|
R9426: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'- AGTAGCAGGAGATCCCAGTG -3'
(R):5'- TGGCTTCCAGGAAATTGAGAG -3'
Sequencing Primer
(F):5'- ATCCCAGTGATAGGCAGTGC -3'
(R):5'- CTTCCAGGAAATTGAGAGTGAGTTG -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation