Incidental Mutation 'IGL01474:Slc4a11'
| ID |
88385 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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: 0.488)
|
| Stock # |
IGL01474
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
130526033-130539439 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 130527464 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 644
(F644I)
|
| 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: F644I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000096963
Gene: ENSMUSG00000074796
AA Change: F644I
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126714
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134647
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144945
|
| Coding Region Coverage |
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot12 |
A |
T |
13: 91,920,902 (GRCm39) |
K336I |
possibly damaging |
Het |
| Acsbg2 |
A |
G |
17: 57,168,621 (GRCm39) |
I166T |
possibly damaging |
Het |
| Adrm1b |
G |
T |
3: 92,335,650 (GRCm39) |
Q351K |
probably damaging |
Het |
| Bpifc |
T |
A |
10: 85,836,503 (GRCm39) |
M1L |
probably damaging |
Het |
| Ccnb2 |
T |
A |
9: 70,326,305 (GRCm39) |
N44I |
probably benign |
Het |
| Cdc73 |
C |
T |
1: 143,547,070 (GRCm39) |
V276M |
probably benign |
Het |
| Cnot7 |
A |
G |
8: 40,960,490 (GRCm39) |
|
probably null |
Het |
| Col11a1 |
T |
A |
3: 114,010,783 (GRCm39) |
|
probably benign |
Het |
| Coro1c |
T |
C |
5: 114,020,216 (GRCm39) |
|
probably benign |
Het |
| Crocc |
A |
G |
4: 140,762,703 (GRCm39) |
|
probably benign |
Het |
| Dync2h1 |
A |
T |
9: 7,102,493 (GRCm39) |
Y396N |
probably benign |
Het |
| Gm2888 |
T |
A |
14: 3,032,041 (GRCm38) |
D116E |
probably damaging |
Het |
| Gm29326 |
A |
T |
7: 29,262,014 (GRCm39) |
|
noncoding transcript |
Het |
| Greb1 |
A |
G |
12: 16,734,502 (GRCm39) |
V1496A |
probably benign |
Het |
| H2bc18 |
A |
G |
3: 96,177,125 (GRCm39) |
|
probably benign |
Het |
| Hdac7 |
A |
G |
15: 97,695,820 (GRCm39) |
|
probably null |
Het |
| Hectd4 |
A |
G |
5: 121,474,712 (GRCm39) |
T2778A |
possibly damaging |
Het |
| Hivep2 |
A |
T |
10: 14,019,406 (GRCm39) |
H2059L |
probably damaging |
Het |
| Ift88 |
A |
T |
14: 57,715,531 (GRCm39) |
I525F |
probably benign |
Het |
| Irag1 |
A |
T |
7: 110,470,640 (GRCm39) |
S898T |
possibly damaging |
Het |
| Itga5 |
G |
A |
15: 103,262,697 (GRCm39) |
Q324* |
probably null |
Het |
| Klhl14 |
T |
G |
18: 21,690,911 (GRCm39) |
H513P |
probably damaging |
Het |
| Lama5 |
A |
T |
2: 179,838,363 (GRCm39) |
D837E |
probably damaging |
Het |
| Muc6 |
C |
A |
7: 141,237,572 (GRCm39) |
C215F |
probably damaging |
Het |
| Myh15 |
A |
G |
16: 48,952,461 (GRCm39) |
K844E |
probably damaging |
Het |
| Neb |
A |
G |
2: 52,218,917 (GRCm39) |
V31A |
unknown |
Het |
| Nipbl |
A |
G |
15: 8,340,693 (GRCm39) |
I2009T |
possibly damaging |
Het |
| Or2ag18 |
A |
G |
7: 106,405,147 (GRCm39) |
I174T |
probably benign |
Het |
| Piwil2 |
T |
C |
14: 70,635,667 (GRCm39) |
R536G |
probably benign |
Het |
| Pld3 |
A |
G |
7: 27,232,044 (GRCm39) |
V412A |
probably damaging |
Het |
| Prkaa2 |
A |
C |
4: 104,906,529 (GRCm39) |
|
probably null |
Het |
| Rdh9 |
T |
C |
10: 127,626,814 (GRCm39) |
L289P |
probably damaging |
Het |
| Rusc2 |
C |
T |
4: 43,416,434 (GRCm39) |
S580L |
probably damaging |
Het |
| Sidt2 |
A |
G |
9: 45,858,280 (GRCm39) |
|
probably null |
Het |
| Slc18b1 |
A |
T |
10: 23,679,748 (GRCm39) |
K92N |
probably benign |
Het |
| Slc20a2 |
G |
A |
8: 23,025,573 (GRCm39) |
V92M |
possibly damaging |
Het |
| Spata31d1d |
A |
T |
13: 59,878,029 (GRCm39) |
|
probably benign |
Het |
| Spef2 |
T |
C |
15: 9,663,244 (GRCm39) |
M846V |
probably benign |
Het |
| Syncrip |
T |
C |
9: 88,362,800 (GRCm39) |
T3A |
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 |
|
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 |
|
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 |
|
| Posted On |
2013-11-18 |
Incidental Mutation