Incidental Mutation 'IGL02516:Slc4a11'
| ID |
296758 |
| 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 # |
IGL02516
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
130526033-130539439 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 130533313 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 191
(I191T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096963
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099362]
[ENSMUST00000127397]
|
| AlphaFold |
A2AJN7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000099362
AA Change: I191T
PolyPhen 2
Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000096963
Gene: ENSMUSG00000074796
AA Change: I191T
| 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: ENSMUST00000127397
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134647
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138028
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam32 |
C |
T |
8: 25,388,612 (GRCm39) |
S364N |
probably damaging |
Het |
| Ano8 |
C |
T |
8: 71,937,721 (GRCm39) |
G47D |
probably damaging |
Het |
| App |
T |
C |
16: 84,752,305 (GRCm39) |
T743A |
probably damaging |
Het |
| Armc3 |
A |
G |
2: 19,305,317 (GRCm39) |
K692E |
possibly damaging |
Het |
| Arpp21 |
T |
C |
9: 112,014,729 (GRCm39) |
N25S |
probably damaging |
Het |
| Avpr1b |
G |
A |
1: 131,528,367 (GRCm39) |
V297I |
probably damaging |
Het |
| Bpi |
A |
G |
2: 158,109,651 (GRCm39) |
I200V |
possibly damaging |
Het |
| Cacna2d4 |
C |
T |
6: 119,248,831 (GRCm39) |
|
probably benign |
Het |
| Cbarp |
A |
G |
10: 79,971,379 (GRCm39) |
Y149H |
probably damaging |
Het |
| Ccdc85c |
T |
C |
12: 108,241,160 (GRCm39) |
N78S |
unknown |
Het |
| Cdcp1 |
G |
T |
9: 123,002,702 (GRCm39) |
L790M |
possibly damaging |
Het |
| Cdkn2d |
T |
A |
9: 21,200,439 (GRCm39) |
I111F |
probably benign |
Het |
| Ctsr |
A |
G |
13: 61,310,992 (GRCm39) |
V18A |
probably benign |
Het |
| Dapk1 |
A |
G |
13: 60,844,161 (GRCm39) |
D60G |
probably damaging |
Het |
| Daw1 |
A |
C |
1: 83,186,949 (GRCm39) |
N253T |
probably benign |
Het |
| Dcaf7 |
T |
A |
11: 105,942,698 (GRCm39) |
I215N |
probably damaging |
Het |
| Ddc |
A |
C |
11: 11,779,125 (GRCm39) |
L333R |
probably damaging |
Het |
| Dennd1a |
A |
G |
2: 37,742,406 (GRCm39) |
|
probably null |
Het |
| Dnah10 |
C |
A |
5: 124,864,395 (GRCm39) |
T2200K |
probably damaging |
Het |
| Dock6 |
T |
C |
9: 21,713,881 (GRCm39) |
Y1883C |
probably damaging |
Het |
| Ecpas |
T |
C |
4: 58,877,102 (GRCm39) |
E111G |
probably damaging |
Het |
| Eif2ak4 |
T |
A |
2: 118,266,735 (GRCm39) |
I752N |
probably damaging |
Het |
| Fcho2 |
A |
G |
13: 98,866,720 (GRCm39) |
I740T |
probably benign |
Het |
| Flnc |
A |
G |
6: 29,450,840 (GRCm39) |
D1496G |
probably damaging |
Het |
| Fn1 |
A |
G |
1: 71,676,482 (GRCm39) |
V583A |
possibly damaging |
Het |
| Greb1l |
A |
C |
18: 10,537,064 (GRCm39) |
T1010P |
probably benign |
Het |
| Hs3st6 |
T |
C |
17: 24,977,105 (GRCm39) |
L195P |
probably damaging |
Het |
| Hyi |
A |
G |
4: 118,219,680 (GRCm39) |
E239G |
probably damaging |
Het |
| Ighv2-3 |
G |
T |
12: 113,574,818 (GRCm39) |
Y112* |
probably null |
Het |
| Ints3 |
A |
G |
3: 90,310,415 (GRCm39) |
F495S |
probably damaging |
Het |
| Itih2 |
T |
A |
2: 10,102,728 (GRCm39) |
H802L |
probably benign |
Het |
| Jag2 |
C |
T |
12: 112,874,186 (GRCm39) |
V990M |
probably damaging |
Het |
| Kat6b |
T |
C |
14: 21,659,936 (GRCm39) |
|
probably benign |
Het |
| Krtap4-8 |
C |
T |
11: 99,671,168 (GRCm39) |
|
probably benign |
Het |
| Lhx4 |
A |
G |
1: 155,578,003 (GRCm39) |
S380P |
probably damaging |
Het |
| Morn3 |
C |
A |
5: 123,175,363 (GRCm39) |
E33* |
probably null |
Het |
| Mug2 |
C |
T |
6: 122,047,802 (GRCm39) |
A771V |
probably damaging |
Het |
| N4bp3 |
A |
T |
11: 51,535,161 (GRCm39) |
S343T |
probably benign |
Het |
| Nlrp1a |
T |
C |
11: 71,005,286 (GRCm39) |
N643S |
probably damaging |
Het |
| Or2c1 |
A |
C |
16: 3,657,200 (GRCm39) |
D121A |
probably damaging |
Het |
| Or2h1b |
T |
A |
17: 37,462,163 (GRCm39) |
R79S |
possibly damaging |
Het |
| Or6c8 |
T |
A |
10: 128,915,662 (GRCm39) |
M57L |
possibly damaging |
Het |
| Phc3 |
A |
G |
3: 31,002,942 (GRCm39) |
F192S |
probably damaging |
Het |
| Pigq |
C |
T |
17: 26,156,221 (GRCm39) |
R69H |
probably benign |
Het |
| Plk3 |
A |
G |
4: 116,989,186 (GRCm39) |
C222R |
probably damaging |
Het |
| Pomt2 |
T |
C |
12: 87,166,420 (GRCm39) |
T490A |
probably benign |
Het |
| Prss29 |
T |
C |
17: 25,539,875 (GRCm39) |
I91T |
probably damaging |
Het |
| Ralgapb |
A |
T |
2: 158,307,735 (GRCm39) |
|
probably benign |
Het |
| Sccpdh |
G |
A |
1: 179,509,256 (GRCm39) |
G75D |
probably damaging |
Het |
| Serpine2 |
T |
C |
1: 79,772,714 (GRCm39) |
|
probably benign |
Het |
| Sfr1 |
T |
G |
19: 47,721,429 (GRCm39) |
|
probably null |
Het |
| Slc22a23 |
C |
A |
13: 34,387,938 (GRCm39) |
C386F |
probably benign |
Het |
| Slc22a27 |
T |
C |
19: 7,842,176 (GRCm39) |
K433R |
probably damaging |
Het |
| Slc39a12 |
T |
C |
2: 14,405,146 (GRCm39) |
L246P |
probably damaging |
Het |
| Slc9c1 |
A |
G |
16: 45,398,238 (GRCm39) |
N668D |
probably damaging |
Het |
| Supt16 |
A |
T |
14: 52,421,421 (GRCm39) |
D41E |
possibly damaging |
Het |
| Tamalin |
G |
A |
15: 101,126,932 (GRCm39) |
V137I |
probably damaging |
Het |
| Ugt2b37 |
A |
G |
5: 87,388,741 (GRCm39) |
S491P |
probably damaging |
Het |
| Urb1 |
G |
T |
16: 90,569,583 (GRCm39) |
T1381N |
possibly damaging |
Het |
| Usp8 |
A |
G |
2: 126,584,094 (GRCm39) |
I423M |
probably benign |
Het |
| Vmn1r191 |
T |
A |
13: 22,363,710 (GRCm39) |
I15F |
probably benign |
Het |
| Zbtb5 |
A |
T |
4: 44,993,798 (GRCm39) |
Y529N |
probably damaging |
Het |
| Zfp541 |
T |
A |
7: 15,816,918 (GRCm39) |
|
probably null |
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 |
|
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 |
Incidental Mutation