Incidental Mutation 'IGL02367:Slc4a11'
ID |
290787 |
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 # |
IGL02367
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
130526033-130539439 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 130526879 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 750
(I750F)
|
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: I750F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000096963 Gene: ENSMUSG00000074796 AA Change: I750F
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930407I10Rik |
T |
C |
15: 81,949,748 (GRCm39) |
L1215P |
probably benign |
Het |
Angptl7 |
T |
C |
4: 148,584,601 (GRCm39) |
N49S |
possibly damaging |
Het |
Asns |
A |
G |
6: 7,685,411 (GRCm39) |
|
probably benign |
Het |
Atr |
T |
A |
9: 95,781,194 (GRCm39) |
Y1419* |
probably null |
Het |
Bptf |
A |
T |
11: 106,964,178 (GRCm39) |
I1672N |
probably benign |
Het |
Cgas |
G |
A |
9: 78,341,667 (GRCm39) |
T370I |
probably benign |
Het |
Chd1 |
A |
G |
17: 17,610,315 (GRCm39) |
T490A |
probably damaging |
Het |
Cyfip2 |
A |
T |
11: 46,167,732 (GRCm39) |
C223* |
probably null |
Het |
Ddr1 |
G |
A |
17: 35,994,372 (GRCm39) |
A801V |
probably damaging |
Het |
Dnah12 |
T |
C |
14: 26,430,316 (GRCm39) |
V308A |
probably benign |
Het |
Dync2h1 |
A |
G |
9: 7,158,926 (GRCm39) |
V703A |
probably damaging |
Het |
Fgd3 |
A |
G |
13: 49,440,802 (GRCm39) |
F210L |
probably damaging |
Het |
Gm6526 |
T |
G |
14: 43,988,262 (GRCm39) |
V171G |
probably damaging |
Het |
Grin3a |
A |
G |
4: 49,702,805 (GRCm39) |
Y894H |
probably damaging |
Het |
Grm3 |
C |
A |
5: 9,561,660 (GRCm39) |
C730F |
probably damaging |
Het |
Habp4 |
C |
A |
13: 64,321,905 (GRCm39) |
P181T |
probably damaging |
Het |
Hdac4 |
A |
G |
1: 91,886,171 (GRCm39) |
|
probably benign |
Het |
Ints5 |
A |
G |
19: 8,872,959 (GRCm39) |
D306G |
probably benign |
Het |
Mid2 |
T |
A |
X: 139,637,245 (GRCm39) |
I273N |
probably damaging |
Het |
Ndufs2 |
A |
T |
1: 171,066,934 (GRCm39) |
Y114* |
probably null |
Het |
Neu4 |
G |
T |
1: 93,952,213 (GRCm39) |
R194L |
probably damaging |
Het |
Ntng1 |
A |
T |
3: 110,042,829 (GRCm39) |
|
probably null |
Het |
Nub1 |
A |
G |
5: 24,894,392 (GRCm39) |
M1V |
probably null |
Het |
Olfml2a |
A |
G |
2: 38,844,680 (GRCm39) |
T379A |
probably benign |
Het |
Or9e1 |
A |
T |
11: 58,732,338 (GRCm39) |
I133F |
probably benign |
Het |
Pex3 |
G |
T |
10: 13,400,643 (GRCm39) |
Q303K |
probably benign |
Het |
Pmp2 |
A |
T |
3: 10,247,560 (GRCm39) |
I43N |
probably damaging |
Het |
Pnliprp1 |
T |
A |
19: 58,726,601 (GRCm39) |
D319E |
probably benign |
Het |
Rap1gap2 |
A |
T |
11: 74,288,181 (GRCm39) |
|
probably null |
Het |
Rpl15-ps6 |
T |
C |
15: 52,341,368 (GRCm39) |
|
noncoding transcript |
Het |
Rwdd3 |
A |
G |
3: 120,952,679 (GRCm39) |
V104A |
probably damaging |
Het |
Sbf1 |
A |
T |
15: 89,191,775 (GRCm39) |
V157E |
probably damaging |
Het |
Tcea1 |
G |
A |
1: 4,948,356 (GRCm39) |
|
probably null |
Het |
Ush2a |
A |
T |
1: 188,516,943 (GRCm39) |
M3218L |
probably benign |
Het |
Utp20 |
G |
A |
10: 88,607,715 (GRCm39) |
|
probably benign |
Het |
Zfp493 |
T |
A |
13: 67,935,089 (GRCm39) |
Y347* |
probably null |
Het |
Zswim6 |
T |
C |
13: 107,880,637 (GRCm39) |
|
noncoding transcript |
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 |
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 |
2015-04-16 |