Incidental Mutation 'R0077:Slc4a11'
| ID |
19452 |
| 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 |
038364-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.433)
|
| Stock # |
R0077 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
130526033-130539439 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
G to T
at 130528221 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099482
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099362]
[ENSMUST00000103193]
|
| AlphaFold |
A2AJN7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099362
|
| SMART Domains |
Protein: ENSMUSP00000096963
Gene: ENSMUSG00000074796
| 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: ENSMUST00000134647
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138028
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144945
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.4%
- 20x: 90.5%
|
| Validation Efficiency |
83% (159/192) |
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl3 |
T |
C |
5: 81,919,532 (GRCm39) |
|
probably benign |
Het |
| Adgrl4 |
A |
G |
3: 151,223,418 (GRCm39) |
I624V |
probably damaging |
Het |
| AI661453 |
A |
G |
17: 47,780,287 (GRCm39) |
|
probably benign |
Het |
| Alg12 |
C |
T |
15: 88,700,181 (GRCm39) |
E60K |
probably damaging |
Het |
| Angel2 |
A |
T |
1: 190,665,284 (GRCm39) |
N72Y |
possibly damaging |
Het |
| Ank1 |
C |
A |
8: 23,630,183 (GRCm39) |
P81Q |
probably damaging |
Het |
| Atp6v1c2 |
A |
T |
12: 17,371,613 (GRCm39) |
D61E |
probably damaging |
Het |
| Bpi |
T |
A |
2: 158,103,254 (GRCm39) |
M83K |
probably damaging |
Het |
| Capn7 |
A |
G |
14: 31,090,072 (GRCm39) |
I642V |
probably benign |
Het |
| Ccdc134 |
T |
C |
15: 82,015,938 (GRCm39) |
|
probably benign |
Het |
| Ccr3 |
C |
T |
9: 123,829,061 (GRCm39) |
T132I |
probably damaging |
Het |
| Cfap65 |
C |
A |
1: 74,971,077 (GRCm39) |
W80C |
probably damaging |
Het |
| Chaf1a |
T |
A |
17: 56,354,384 (GRCm39) |
I218K |
unknown |
Het |
| Ddx23 |
A |
G |
15: 98,554,481 (GRCm39) |
|
probably null |
Het |
| Dmkn |
A |
G |
7: 30,464,719 (GRCm39) |
S231G |
probably benign |
Het |
| Ep300 |
T |
C |
15: 81,525,514 (GRCm39) |
I1446T |
unknown |
Het |
| Fmnl1 |
T |
C |
11: 103,080,795 (GRCm39) |
F318S |
probably damaging |
Het |
| Grik5 |
A |
T |
7: 24,722,805 (GRCm39) |
V497E |
probably damaging |
Het |
| Gtf2ird2 |
T |
C |
5: 134,242,925 (GRCm39) |
Y380H |
probably damaging |
Het |
| Hecw2 |
C |
T |
1: 53,907,990 (GRCm39) |
|
probably benign |
Het |
| Hspb7 |
A |
G |
4: 141,151,358 (GRCm39) |
I167V |
probably damaging |
Het |
| Kcnh2 |
T |
A |
5: 24,527,700 (GRCm39) |
N884I |
probably benign |
Het |
| Krba1 |
T |
C |
6: 48,382,159 (GRCm39) |
|
probably benign |
Het |
| Krt18 |
G |
T |
15: 101,939,409 (GRCm39) |
R294L |
probably benign |
Het |
| Lctl |
T |
A |
9: 64,029,389 (GRCm39) |
M1K |
probably null |
Het |
| Lingo2 |
G |
A |
4: 35,708,375 (GRCm39) |
S535F |
possibly damaging |
Het |
| Lrba |
A |
C |
3: 86,449,995 (GRCm39) |
N2105H |
probably damaging |
Het |
| Lrrc10 |
A |
G |
10: 116,881,419 (GRCm39) |
D31G |
probably damaging |
Het |
| Lrrtm1 |
T |
A |
6: 77,220,855 (GRCm39) |
V104E |
probably damaging |
Het |
| Mgat3 |
C |
T |
15: 80,096,778 (GRCm39) |
T535I |
probably benign |
Het |
| Nav3 |
T |
C |
10: 109,552,503 (GRCm39) |
I1780V |
possibly damaging |
Het |
| Nlrc4 |
A |
G |
17: 74,753,826 (GRCm39) |
W186R |
probably damaging |
Het |
| Nr2c1 |
T |
A |
10: 94,024,117 (GRCm39) |
F441I |
probably benign |
Het |
| Obscn |
A |
G |
11: 58,942,347 (GRCm39) |
|
probably benign |
Het |
| Or1p1 |
T |
C |
11: 74,179,501 (GRCm39) |
F10L |
probably benign |
Het |
| Or2a56 |
T |
C |
6: 42,932,707 (GRCm39) |
S92P |
probably benign |
Het |
| Or56b34 |
T |
C |
7: 104,937,726 (GRCm39) |
V142A |
probably damaging |
Het |
| Or5au1 |
T |
C |
14: 52,273,442 (GRCm39) |
N42S |
possibly damaging |
Het |
| Osr1 |
A |
T |
12: 9,629,691 (GRCm39) |
Y188F |
probably damaging |
Het |
| Pak2 |
A |
T |
16: 31,852,661 (GRCm39) |
N293K |
possibly damaging |
Het |
| Pappa |
A |
T |
4: 65,226,049 (GRCm39) |
T1301S |
probably damaging |
Het |
| Pde4dip |
G |
A |
3: 97,660,442 (GRCm39) |
Q679* |
probably null |
Het |
| Pik3r5 |
T |
A |
11: 68,377,448 (GRCm39) |
|
probably null |
Het |
| Plbd2 |
C |
T |
5: 120,624,104 (GRCm39) |
|
probably null |
Het |
| Ppp1r3a |
G |
T |
6: 14,754,516 (GRCm39) |
P244T |
possibly damaging |
Het |
| Pum1 |
C |
A |
4: 130,499,985 (GRCm39) |
R960S |
probably benign |
Het |
| Ralgapb |
T |
C |
2: 158,315,169 (GRCm39) |
Y845H |
probably damaging |
Het |
| Rbms1 |
A |
T |
2: 60,589,179 (GRCm39) |
M287K |
possibly damaging |
Het |
| Rdh1 |
A |
T |
10: 127,595,906 (GRCm39) |
I34F |
probably damaging |
Het |
| Rgl3 |
T |
A |
9: 21,885,398 (GRCm39) |
Q644L |
probably benign |
Het |
| Rpap2 |
T |
C |
5: 107,768,340 (GRCm39) |
S393P |
probably damaging |
Het |
| Rsad2 |
T |
C |
12: 26,506,376 (GRCm39) |
S15G |
probably damaging |
Het |
| Rspo1 |
G |
A |
4: 124,885,190 (GRCm39) |
R22Q |
probably benign |
Het |
| S100a11 |
A |
C |
3: 93,431,509 (GRCm39) |
|
probably null |
Het |
| Septin4 |
T |
C |
11: 87,472,022 (GRCm39) |
S11P |
probably benign |
Het |
| Serpina1c |
T |
C |
12: 103,862,350 (GRCm39) |
S322G |
probably benign |
Het |
| Setdb1 |
A |
T |
3: 95,248,762 (GRCm39) |
C385S |
probably damaging |
Het |
| Shank2 |
A |
T |
7: 143,746,204 (GRCm39) |
I193F |
possibly damaging |
Het |
| Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
| Tbcd |
C |
A |
11: 121,485,100 (GRCm39) |
Q761K |
probably benign |
Het |
| Tmed6 |
C |
T |
8: 107,792,198 (GRCm39) |
V16M |
probably damaging |
Het |
| Tmem229a |
T |
C |
6: 24,955,701 (GRCm39) |
T18A |
probably benign |
Het |
| Tsc1 |
T |
A |
2: 28,568,955 (GRCm39) |
|
probably benign |
Het |
| Ube2m |
T |
C |
7: 12,769,657 (GRCm39) |
N49D |
probably damaging |
Het |
| Ubqlnl |
T |
C |
7: 103,799,254 (GRCm39) |
D81G |
probably damaging |
Het |
| Vmn2r56 |
A |
G |
7: 12,449,332 (GRCm39) |
V302A |
probably benign |
Het |
| Vmn2r73 |
T |
A |
7: 85,525,075 (GRCm39) |
R24S |
probably benign |
Het |
| Wfs1 |
C |
A |
5: 37,130,538 (GRCm39) |
S236I |
probably damaging |
Het |
| Xpot |
A |
T |
10: 121,441,544 (GRCm39) |
N560K |
probably benign |
Het |
| Yipf3 |
A |
G |
17: 46,562,503 (GRCm39) |
T303A |
probably benign |
Het |
| Zfp790 |
T |
C |
7: 29,524,300 (GRCm39) |
W19R |
probably damaging |
Het |
| Zfp846 |
T |
C |
9: 20,505,303 (GRCm39) |
C388R |
probably benign |
Het |
| Zpr1 |
T |
A |
9: 46,184,634 (GRCm39) |
I47N |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCCAGAGTGTGCCCAACATGATG -3'
(R):5'- TTGCTGAAGGGGAATAGCCTCTCCAG -3'
Sequencing Primer
(F):5'- TGTGCCCAACATGATGAGGAG -3'
(R):5'- TACCACCAGAGATGGGGC -3'
|
| Posted On |
2013-04-11 |
Incidental Mutation