Incidental Mutation 'R3890:Slc4a11'
ID |
310321 |
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 |
040802-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.433)
|
Stock # |
R3890 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
130526033-130539439 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 130527705 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 592
(S592T)
|
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: S592T
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000096963 Gene: ENSMUSG00000074796 AA Change: S592T
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
|
Meta Mutation Damage Score |
0.1731 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
Validation Efficiency |
98% (60/61) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700029H14Rik |
T |
C |
8: 13,604,700 (GRCm39) |
Y201C |
probably damaging |
Het |
Adam10 |
A |
G |
9: 70,676,136 (GRCm39) |
T624A |
probably benign |
Het |
Atf2 |
T |
C |
2: 73,693,557 (GRCm39) |
S2G |
probably damaging |
Het |
Atf7ip |
T |
C |
6: 136,564,043 (GRCm39) |
V762A |
possibly damaging |
Het |
Cacna1e |
C |
T |
1: 154,359,299 (GRCm39) |
R265Q |
probably damaging |
Het |
Cckbr |
A |
C |
7: 105,075,376 (GRCm39) |
T49P |
probably benign |
Het |
Clip2 |
T |
C |
5: 134,551,847 (GRCm39) |
K92E |
probably damaging |
Het |
Clrn3 |
T |
C |
7: 135,120,194 (GRCm39) |
T131A |
possibly damaging |
Het |
Cntrl |
T |
G |
2: 35,060,492 (GRCm39) |
C1342G |
probably benign |
Het |
Def8 |
T |
C |
8: 124,185,083 (GRCm39) |
|
probably benign |
Het |
Dennd4a |
T |
C |
9: 64,779,310 (GRCm39) |
S598P |
probably damaging |
Het |
Deup1 |
A |
G |
9: 15,511,009 (GRCm39) |
Y257H |
probably damaging |
Het |
Dnajc28 |
G |
A |
16: 91,413,755 (GRCm39) |
T187M |
probably damaging |
Het |
Ect2 |
T |
C |
3: 27,192,689 (GRCm39) |
D387G |
probably damaging |
Het |
Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
Fmo4 |
A |
T |
1: 162,621,624 (GRCm39) |
I529N |
probably benign |
Het |
Frs3 |
A |
G |
17: 48,014,360 (GRCm39) |
D351G |
probably damaging |
Het |
Gcat |
T |
A |
15: 78,921,376 (GRCm39) |
V378D |
probably damaging |
Het |
Hmcn1 |
A |
T |
1: 150,510,946 (GRCm39) |
D3592E |
probably damaging |
Het |
Hspa4l |
A |
T |
3: 40,736,026 (GRCm39) |
Q570L |
possibly damaging |
Het |
Ifi213 |
A |
G |
1: 173,394,822 (GRCm39) |
I571T |
probably benign |
Het |
Lsamp |
T |
C |
16: 39,805,054 (GRCm39) |
V11A |
probably benign |
Het |
Mettl1 |
T |
C |
10: 126,880,998 (GRCm39) |
|
probably null |
Het |
Mettl15 |
A |
G |
2: 109,021,924 (GRCm39) |
I127T |
probably benign |
Het |
Mipep |
T |
C |
14: 61,046,444 (GRCm39) |
L322P |
probably damaging |
Het |
Mob1b |
T |
A |
5: 88,901,061 (GRCm39) |
I156K |
probably damaging |
Het |
Mobp |
G |
A |
9: 119,997,022 (GRCm39) |
C51Y |
probably damaging |
Het |
Ms4a3 |
T |
C |
19: 11,610,271 (GRCm39) |
N97S |
probably benign |
Het |
Myrip |
A |
G |
9: 120,251,324 (GRCm39) |
E210G |
probably damaging |
Het |
Nos1ap |
T |
C |
1: 170,177,025 (GRCm39) |
Y126C |
probably damaging |
Het |
Nuak2 |
G |
T |
1: 132,259,223 (GRCm39) |
A342S |
possibly damaging |
Het |
Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
Or10ah1-ps1 |
G |
T |
5: 143,123,152 (GRCm39) |
S290R |
probably benign |
Het |
Or2aj5 |
A |
G |
16: 19,425,205 (GRCm39) |
I71T |
probably damaging |
Het |
Or7e165 |
T |
G |
9: 19,695,011 (GRCm39) |
I194S |
probably benign |
Het |
Pdgfra |
A |
G |
5: 75,328,588 (GRCm39) |
N240S |
probably null |
Het |
Pdxdc1 |
T |
C |
16: 13,654,312 (GRCm39) |
T759A |
probably benign |
Het |
Pex2 |
C |
T |
3: 5,626,008 (GRCm39) |
C267Y |
probably damaging |
Het |
Pgghg |
T |
C |
7: 140,525,616 (GRCm39) |
I473T |
probably damaging |
Het |
Prdm15 |
T |
C |
16: 97,600,771 (GRCm39) |
H829R |
probably damaging |
Het |
Pum1 |
T |
C |
4: 130,491,393 (GRCm39) |
L774P |
probably damaging |
Het |
Rcbtb1 |
T |
A |
14: 59,465,804 (GRCm39) |
H382Q |
possibly damaging |
Het |
Rprd2 |
A |
T |
3: 95,672,536 (GRCm39) |
F956I |
probably damaging |
Het |
Samd1 |
G |
A |
8: 84,724,361 (GRCm39) |
|
probably benign |
Het |
Slc5a4b |
A |
G |
10: 75,898,094 (GRCm39) |
V540A |
probably benign |
Het |
Slfn8 |
G |
A |
11: 82,895,270 (GRCm39) |
T512I |
possibly damaging |
Het |
Slx4 |
A |
T |
16: 3,797,773 (GRCm39) |
I1537N |
probably damaging |
Het |
Sorl1 |
G |
A |
9: 41,915,401 (GRCm39) |
T1276M |
probably damaging |
Het |
Specc1 |
C |
T |
11: 62,042,739 (GRCm39) |
T872M |
probably benign |
Het |
Speer4f1 |
T |
C |
5: 17,684,500 (GRCm39) |
I176T |
probably damaging |
Het |
Spint1 |
T |
C |
2: 119,079,283 (GRCm39) |
I455T |
probably benign |
Het |
Srp54a |
A |
G |
12: 55,135,978 (GRCm39) |
|
probably null |
Het |
Stoml3 |
T |
A |
3: 53,414,875 (GRCm39) |
N222K |
probably damaging |
Het |
Syce1 |
C |
A |
7: 140,359,809 (GRCm39) |
L83F |
probably damaging |
Het |
Tanc2 |
A |
T |
11: 105,689,504 (GRCm39) |
D222V |
probably damaging |
Het |
Tasor2 |
T |
C |
13: 3,646,785 (GRCm39) |
E80G |
probably damaging |
Het |
Thsd7a |
G |
A |
6: 12,418,336 (GRCm39) |
S631L |
probably benign |
Het |
Vmn2r73 |
G |
A |
7: 85,507,144 (GRCm39) |
H723Y |
probably benign |
Het |
Wdfy4 |
T |
C |
14: 32,769,237 (GRCm39) |
E2076G |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGAGAGTGGATCTGTGCCAC -3'
(R):5'- ACACTCTGGCTAGGCTACAC -3'
Sequencing Primer
(F):5'- GTGGATCTGTGCCACCTCAAAAAG -3'
(R):5'- GGGGACACCTTTTAGTCCAGTAC -3'
|
Posted On |
2015-04-17 |