Incidental Mutation 'R9240:Slc4a11'
| ID |
700666 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc4a11
|
| Ensembl Gene |
ENSMUSG00000074796 |
| Gene Name |
solute carrier family 4, sodium bicarbonate transporter-like, member 11 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.433)
|
| Stock # |
R9240 (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: 99.6%
|
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl1 |
A |
G |
8: 46,966,406 (GRCm39) |
I187V |
probably benign |
Het |
| Adam7 |
C |
A |
14: 68,747,208 (GRCm39) |
V584L |
probably benign |
Het |
| Arsg |
T |
A |
11: 109,463,093 (GRCm39) |
V451E |
probably benign |
Het |
| Btbd8 |
A |
G |
5: 107,600,034 (GRCm39) |
D175G |
probably benign |
Het |
| Cacnb3 |
C |
T |
15: 98,540,486 (GRCm39) |
P338L |
probably benign |
Het |
| Cars1 |
G |
T |
7: 143,138,533 (GRCm39) |
P218Q |
probably benign |
Het |
| Ccdc180 |
T |
C |
4: 45,917,566 (GRCm39) |
|
probably null |
Het |
| Cdh23 |
C |
T |
10: 60,215,044 (GRCm39) |
D1431N |
probably benign |
Het |
| Cenpf |
A |
T |
1: 189,389,167 (GRCm39) |
V1555D |
probably benign |
Het |
| Creb3l2 |
T |
C |
6: 37,311,506 (GRCm39) |
N428D |
possibly damaging |
Het |
| Crebbp |
A |
T |
16: 3,917,537 (GRCm39) |
|
probably null |
Het |
| Cstf1 |
C |
A |
2: 172,217,669 (GRCm39) |
P94Q |
probably damaging |
Het |
| Dis3l |
A |
G |
9: 64,217,447 (GRCm39) |
|
probably null |
Het |
| Dlc1 |
A |
T |
8: 37,052,005 (GRCm39) |
D124E |
probably benign |
Het |
| Dpysl3 |
C |
T |
18: 43,487,867 (GRCm39) |
V159I |
probably benign |
Het |
| Eea1 |
T |
G |
10: 95,776,824 (GRCm39) |
I5S |
probably benign |
Het |
| F7 |
A |
T |
8: 13,085,173 (GRCm39) |
T400S |
probably damaging |
Het |
| Fbxo38 |
C |
A |
18: 62,651,632 (GRCm39) |
E558* |
probably null |
Het |
| Fcgr2b |
C |
T |
1: 170,797,042 (GRCm39) |
|
probably null |
Het |
| Fktn |
G |
A |
4: 53,734,854 (GRCm39) |
G125D |
probably benign |
Het |
| Flt1 |
T |
C |
5: 147,618,676 (GRCm39) |
N220D |
probably benign |
Het |
| Fzd9 |
A |
G |
5: 135,278,812 (GRCm39) |
Y358H |
probably damaging |
Het |
| Gcc2 |
C |
T |
10: 58,106,398 (GRCm39) |
Q545* |
probably null |
Het |
| Gkn3 |
T |
C |
6: 87,365,789 (GRCm39) |
N10S |
probably benign |
Het |
| Gls |
C |
G |
1: 52,207,553 (GRCm39) |
V604L |
probably benign |
Het |
| Gtf2i |
T |
A |
5: 134,292,619 (GRCm39) |
Q375L |
probably benign |
Het |
| Hells |
A |
G |
19: 38,935,289 (GRCm39) |
M320V |
possibly damaging |
Het |
| Ints3 |
T |
C |
3: 90,310,410 (GRCm39) |
S497G |
possibly damaging |
Het |
| Iqub |
C |
A |
6: 24,505,622 (GRCm39) |
L95F |
probably benign |
Het |
| Mat1a |
G |
A |
14: 40,827,573 (GRCm39) |
C9Y |
probably benign |
Het |
| Mfsd4b5 |
A |
G |
10: 39,851,099 (GRCm39) |
L103P |
probably damaging |
Het |
| Ms4a14 |
T |
C |
19: 11,281,864 (GRCm39) |
I231M |
possibly damaging |
Het |
| Muc16 |
T |
C |
9: 18,449,309 (GRCm39) |
T7580A |
unknown |
Het |
| Myb |
A |
T |
10: 21,016,500 (GRCm39) |
L670Q |
probably damaging |
Het |
| Nisch |
A |
G |
14: 30,906,988 (GRCm39) |
L236P |
unknown |
Het |
| Or5d38 |
A |
C |
2: 87,955,231 (GRCm39) |
F33V |
probably benign |
Het |
| Plscr4 |
A |
T |
9: 92,366,934 (GRCm39) |
M183L |
probably benign |
Het |
| Polr1a |
T |
A |
6: 71,940,661 (GRCm39) |
C998* |
probably null |
Het |
| Prokr2 |
A |
T |
2: 132,223,377 (GRCm39) |
V55E |
possibly damaging |
Het |
| Prr12 |
A |
T |
7: 44,684,075 (GRCm39) |
V1655E |
probably damaging |
Het |
| Rsf1 |
GGCGGCGGC |
GGCGGCGGCCGCGGCGGC |
7: 97,229,119 (GRCm39) |
|
probably benign |
Het |
| Rspo1 |
C |
T |
4: 124,885,132 (GRCm39) |
L3F |
probably benign |
Het |
| Rtn4rl1 |
C |
A |
11: 75,156,082 (GRCm39) |
D171E |
probably damaging |
Het |
| Ryr1 |
A |
G |
7: 28,743,313 (GRCm39) |
F3895L |
probably damaging |
Het |
| Scn8a |
G |
T |
15: 100,915,068 (GRCm39) |
G1211* |
probably null |
Het |
| Smarcd3 |
T |
A |
5: 24,801,831 (GRCm39) |
M103L |
probably benign |
Het |
| Smg1 |
A |
T |
7: 117,739,031 (GRCm39) |
S3458T |
probably benign |
Het |
| Smg6 |
C |
T |
11: 74,825,884 (GRCm39) |
R738W |
probably damaging |
Het |
| Spef2 |
G |
A |
15: 9,578,401 (GRCm39) |
Q1708* |
probably null |
Het |
| Taf2 |
A |
T |
15: 54,926,464 (GRCm39) |
V162E |
probably null |
Het |
| Tbc1d23 |
A |
T |
16: 57,032,748 (GRCm39) |
N154K |
possibly damaging |
Het |
| Tbx3 |
A |
G |
5: 119,818,960 (GRCm39) |
S532G |
probably benign |
Het |
| Tedc1 |
T |
C |
12: 113,121,310 (GRCm39) |
I177T |
probably benign |
Het |
| Tnrc6b |
G |
C |
15: 80,764,262 (GRCm39) |
G588A |
probably damaging |
Het |
| Top2a |
T |
A |
11: 98,901,368 (GRCm39) |
K519* |
probably null |
Het |
| Trim47 |
T |
A |
11: 115,999,148 (GRCm39) |
M243L |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,641,865 (GRCm39) |
|
probably null |
Het |
| Uggt1 |
T |
C |
1: 36,221,696 (GRCm39) |
E624G |
possibly damaging |
Het |
| Vmn1r43 |
G |
A |
6: 89,846,877 (GRCm39) |
T203M |
probably damaging |
Het |
| Vmn2r9 |
A |
G |
5: 108,996,099 (GRCm39) |
V183A |
possibly damaging |
Het |
| Zfp212 |
T |
A |
6: 47,906,032 (GRCm39) |
V197E |
probably benign |
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 |
|
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'- TTACCCTTGCTCTCCATAGGGG -3'
(R):5'- ATGTTCCCAGGCGTTCCTAAAC -3'
Sequencing Primer
(F):5'- GCTCCAGCATCTGTAAAGAGCTTAG -3'
(R):5'- GCGTTCCTAAACAGGGATCTCAG -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation