Incidental Mutation 'R6709:Slc4a11'
| ID |
529038 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc4a11
|
| Ensembl Gene |
ENSMUSG00000074796 |
| Gene Name |
solute carrier family 4, sodium bicarbonate transporter-like, member 11 |
| Synonyms |
|
| MMRRC Submission |
044827-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.488)
|
| Stock # |
R6709 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
130526033-130539439 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 130526616 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 812
(L812Q)
|
| 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: L812Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000096963
Gene: ENSMUSG00000074796
AA Change: L812Q
| 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 |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.6%
|
| Validation Efficiency |
98% (58/59) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl6b |
A |
G |
5: 137,552,779 (GRCm39) |
D36G |
possibly damaging |
Het |
| Actn1 |
T |
A |
12: 80,240,418 (GRCm39) |
D223V |
probably damaging |
Het |
| Adgre1 |
A |
T |
17: 57,713,917 (GRCm39) |
N201Y |
probably benign |
Het |
| Agbl4 |
T |
A |
4: 111,423,979 (GRCm39) |
|
probably benign |
Het |
| Atg4d |
T |
C |
9: 21,179,944 (GRCm39) |
Y272H |
probably damaging |
Het |
| Ccdc39 |
T |
C |
3: 33,884,242 (GRCm39) |
T367A |
possibly damaging |
Het |
| Ceacam2 |
T |
C |
7: 25,229,262 (GRCm39) |
T293A |
possibly damaging |
Het |
| Col19a1 |
C |
T |
1: 24,321,577 (GRCm39) |
G977E |
probably damaging |
Het |
| Csnka2ip |
A |
T |
16: 64,298,932 (GRCm39) |
H33Q |
possibly damaging |
Het |
| Cyp3a44 |
A |
T |
5: 145,714,902 (GRCm39) |
|
probably null |
Het |
| Dcpp3 |
AGGCCATGCTGGCC |
AGGCC |
17: 24,136,572 (GRCm39) |
|
probably benign |
Het |
| Dnah12 |
A |
G |
14: 26,594,706 (GRCm39) |
D3492G |
probably damaging |
Het |
| Eepd1 |
A |
T |
9: 25,394,164 (GRCm39) |
T143S |
probably benign |
Het |
| Eml2 |
A |
G |
7: 18,940,136 (GRCm39) |
*650W |
probably null |
Het |
| Etv1 |
C |
T |
12: 38,833,796 (GRCm39) |
T19I |
possibly damaging |
Het |
| Fam133b |
T |
C |
5: 3,619,059 (GRCm39) |
|
probably benign |
Het |
| Fgd4 |
T |
C |
16: 16,302,345 (GRCm39) |
H70R |
probably benign |
Het |
| Galnt11 |
C |
T |
5: 25,453,851 (GRCm39) |
R26C |
probably damaging |
Het |
| Gm136 |
T |
A |
4: 34,755,884 (GRCm39) |
Y43F |
probably damaging |
Het |
| Gm17409 |
A |
T |
2: 58,361,088 (GRCm39) |
|
probably null |
Het |
| Gm5591 |
A |
G |
7: 38,221,499 (GRCm39) |
I190T |
probably benign |
Het |
| H1f9 |
T |
A |
11: 94,858,772 (GRCm39) |
S22R |
possibly damaging |
Het |
| Htra1 |
C |
T |
7: 130,537,948 (GRCm39) |
|
probably benign |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Ints8 |
A |
T |
4: 11,221,117 (GRCm39) |
Y753N |
possibly damaging |
Het |
| Itprid2 |
A |
G |
2: 79,475,276 (GRCm39) |
T412A |
probably benign |
Het |
| L3mbtl3 |
G |
A |
10: 26,158,695 (GRCm39) |
T651I |
unknown |
Het |
| Ltb4r2 |
A |
C |
14: 55,999,990 (GRCm39) |
T204P |
possibly damaging |
Het |
| Ltbp3 |
G |
A |
19: 5,797,885 (GRCm39) |
|
probably null |
Het |
| Mlxip |
A |
T |
5: 123,585,339 (GRCm39) |
I616F |
possibly damaging |
Het |
| Mpz |
A |
T |
1: 170,978,301 (GRCm39) |
|
probably benign |
Het |
| Myh11 |
A |
G |
16: 14,041,358 (GRCm39) |
|
probably null |
Het |
| Myo7a |
A |
G |
7: 97,703,906 (GRCm39) |
L1949P |
probably damaging |
Het |
| Olfm2 |
A |
G |
9: 20,584,009 (GRCm39) |
Y116H |
probably damaging |
Het |
| Or2t47 |
T |
C |
11: 58,442,862 (GRCm39) |
M68V |
probably benign |
Het |
| Or6s1 |
A |
T |
14: 51,308,286 (GRCm39) |
L188H |
probably damaging |
Het |
| Pde4d |
T |
G |
13: 110,084,813 (GRCm39) |
L470R |
probably damaging |
Het |
| Plxna2 |
T |
A |
1: 194,472,074 (GRCm39) |
N1013K |
probably benign |
Het |
| Ptpn13 |
A |
C |
5: 103,734,622 (GRCm39) |
Q2118P |
probably benign |
Het |
| Pwwp2a |
C |
G |
11: 43,595,554 (GRCm39) |
L240V |
probably damaging |
Het |
| Reep2 |
T |
C |
18: 34,979,263 (GRCm39) |
L196P |
probably benign |
Het |
| Shank1 |
A |
T |
7: 44,003,600 (GRCm39) |
N1765I |
probably benign |
Het |
| Slc25a13 |
A |
G |
6: 6,073,440 (GRCm39) |
S473P |
possibly damaging |
Het |
| Slc33a1 |
C |
A |
3: 63,852,122 (GRCm39) |
M450I |
possibly damaging |
Het |
| Slc45a2 |
A |
G |
15: 11,001,216 (GRCm39) |
Y105C |
possibly damaging |
Het |
| Sox6 |
T |
C |
7: 115,301,024 (GRCm39) |
|
probably null |
Het |
| Sv2b |
A |
T |
7: 74,773,887 (GRCm39) |
M528K |
probably benign |
Het |
| Syngr4 |
A |
G |
7: 45,538,122 (GRCm39) |
V82A |
probably benign |
Het |
| Tmem185b |
G |
A |
1: 119,454,604 (GRCm39) |
V122I |
probably benign |
Het |
| Trdn |
A |
G |
10: 33,340,587 (GRCm39) |
D607G |
probably benign |
Het |
| Trim10 |
T |
A |
17: 37,183,262 (GRCm39) |
I186N |
probably damaging |
Het |
| Trp53i11 |
A |
T |
2: 93,030,163 (GRCm39) |
M157L |
probably benign |
Het |
| Ubr3 |
C |
A |
2: 69,843,436 (GRCm39) |
H1559N |
probably damaging |
Het |
| Usp25 |
A |
C |
16: 76,880,820 (GRCm39) |
E727A |
probably benign |
Het |
| Vmn2r42 |
T |
A |
7: 8,195,618 (GRCm39) |
R509S |
probably benign |
Het |
| Vmn2r69 |
T |
C |
7: 85,061,069 (GRCm39) |
N172D |
probably benign |
Het |
| Zfp14 |
T |
C |
7: 29,737,557 (GRCm39) |
Y476C |
probably damaging |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATTCGGGGTAGCAGATTGTAGC -3'
(R):5'- GTACATTGCACTGACCTCCC -3'
Sequencing Primer
(F):5'- CAGATTGTAGCTGCGGAGTAG -3'
(R):5'- TGGACGGCAACCAGCTCTTC -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation