Incidental Mutation 'IGL01859:Slc4a11'
| ID |
178255 |
| 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 # |
IGL01859
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
130526033-130539439 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 130526914 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 738
(L738Q)
|
| 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: L738Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000096963
Gene: ENSMUSG00000074796
AA Change: L738Q
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ackr4 |
A |
G |
9: 103,963,336 (GRCm39) |
|
probably benign |
Het |
| Ak7 |
A |
G |
12: 105,711,556 (GRCm39) |
M398V |
probably null |
Het |
| Angptl3 |
C |
T |
4: 98,925,669 (GRCm39) |
R332* |
probably null |
Het |
| Ano7 |
A |
G |
1: 93,322,168 (GRCm39) |
Y392C |
probably damaging |
Het |
| Arpc1b |
T |
C |
5: 145,060,540 (GRCm39) |
F18L |
probably damaging |
Het |
| Cdc23 |
G |
T |
18: 34,784,459 (GRCm39) |
P73Q |
probably benign |
Het |
| Cdkl1 |
A |
C |
12: 69,806,903 (GRCm39) |
L111R |
probably damaging |
Het |
| Cntnap2 |
A |
G |
6: 46,965,655 (GRCm39) |
D822G |
probably damaging |
Het |
| Col6a5 |
G |
A |
9: 105,808,160 (GRCm39) |
R963* |
probably null |
Het |
| Crocc |
T |
C |
4: 140,756,601 (GRCm39) |
D1008G |
probably benign |
Het |
| Dntt |
G |
T |
19: 41,025,743 (GRCm39) |
M120I |
probably benign |
Het |
| Dock1 |
A |
G |
7: 134,678,890 (GRCm39) |
Y1003C |
possibly damaging |
Het |
| Fam178b |
T |
A |
1: 36,698,446 (GRCm39) |
R92W |
probably damaging |
Het |
| Fermt2 |
A |
G |
14: 45,697,413 (GRCm39) |
V646A |
possibly damaging |
Het |
| Foxc1 |
T |
C |
13: 31,992,706 (GRCm39) |
S506P |
unknown |
Het |
| Gtpbp1 |
T |
A |
15: 79,603,341 (GRCm39) |
V610E |
probably benign |
Het |
| H2-T15 |
A |
T |
17: 36,368,903 (GRCm39) |
M59K |
possibly damaging |
Het |
| Hsdl2 |
T |
C |
4: 59,601,569 (GRCm39) |
|
probably null |
Het |
| Itgb8 |
T |
A |
12: 119,153,680 (GRCm39) |
R278S |
probably damaging |
Het |
| Kcnh7 |
T |
A |
2: 62,552,132 (GRCm39) |
D953V |
probably benign |
Het |
| Med13 |
A |
T |
11: 86,174,577 (GRCm39) |
D1749E |
possibly damaging |
Het |
| Mocos |
G |
T |
18: 24,799,717 (GRCm39) |
|
probably benign |
Het |
| Pcdhb20 |
T |
G |
18: 37,637,616 (GRCm39) |
N47K |
probably damaging |
Het |
| Phf21a |
T |
A |
2: 92,158,701 (GRCm39) |
F227L |
probably damaging |
Het |
| Piezo2 |
T |
C |
18: 63,225,915 (GRCm39) |
E907G |
probably benign |
Het |
| Pla2g4e |
G |
T |
2: 120,013,214 (GRCm39) |
Q369K |
possibly damaging |
Het |
| Ppp3cb |
A |
G |
14: 20,559,517 (GRCm39) |
I413T |
probably damaging |
Het |
| Ptgis |
A |
G |
2: 167,056,726 (GRCm39) |
|
probably null |
Het |
| Rasgrp1 |
A |
G |
2: 117,119,899 (GRCm39) |
V452A |
probably benign |
Het |
| Rbms3 |
T |
A |
9: 116,788,606 (GRCm39) |
D105V |
probably damaging |
Het |
| Rnase1 |
C |
A |
14: 51,383,260 (GRCm39) |
Q31H |
probably benign |
Het |
| Rnase13 |
G |
T |
14: 52,159,760 (GRCm39) |
N126K |
probably damaging |
Het |
| Sema5b |
G |
T |
16: 35,467,479 (GRCm39) |
V248L |
possibly damaging |
Het |
| Serpinb12 |
G |
A |
1: 106,881,564 (GRCm39) |
|
probably null |
Het |
| Spta1 |
A |
T |
1: 174,001,938 (GRCm39) |
I23F |
probably damaging |
Het |
| Stk-ps2 |
A |
T |
1: 46,069,202 (GRCm39) |
|
noncoding transcript |
Het |
| Tcp1 |
A |
G |
17: 13,141,571 (GRCm39) |
E350G |
possibly damaging |
Het |
| Tonsl |
T |
C |
15: 76,518,980 (GRCm39) |
K518E |
probably damaging |
Het |
| Trim34a |
A |
G |
7: 103,910,149 (GRCm39) |
E317G |
probably damaging |
Het |
| Trit1 |
A |
G |
4: 122,943,344 (GRCm39) |
S335G |
probably benign |
Het |
| Usp28 |
G |
T |
9: 48,935,321 (GRCm39) |
E91* |
probably null |
Het |
| Vmn2r56 |
A |
G |
7: 12,449,932 (GRCm39) |
L102P |
probably damaging |
Het |
| Wwtr1 |
A |
C |
3: 57,384,938 (GRCm39) |
L203R |
possibly damaging |
Het |
| Zfp110 |
T |
C |
7: 12,583,467 (GRCm39) |
V705A |
possibly damaging |
Het |
| Zfp955a |
T |
C |
17: 33,462,693 (GRCm39) |
N67S |
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 |
|
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 |
2014-05-07 |
Incidental Mutation