Incidental Mutation 'R5869:Slc4a11'
ID |
454312 |
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 |
044077-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.488)
|
Stock # |
R5869 (G1)
|
Quality Score |
140 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
130526033-130539439 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 130526379 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glycine
at position 855
(V855G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000096963
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099362]
[ENSMUST00000103193]
|
AlphaFold |
A2AJN7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000099362
AA Change: V855G
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000096963 Gene: ENSMUSG00000074796 AA Change: V855G
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 |
0.0939 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 92.1%
|
Validation Efficiency |
93% (68/73) |
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adarb1 |
T |
C |
10: 77,161,450 (GRCm39) |
|
probably benign |
Het |
Arsk |
T |
C |
13: 76,239,903 (GRCm39) |
E100G |
probably benign |
Het |
Ascc3 |
C |
T |
10: 50,718,279 (GRCm39) |
R1991* |
probably null |
Het |
Aspscr1 |
T |
C |
11: 120,579,746 (GRCm39) |
I31T |
possibly damaging |
Het |
Asz1 |
T |
C |
6: 18,074,939 (GRCm39) |
|
probably benign |
Het |
Calm5 |
T |
A |
13: 3,904,321 (GRCm39) |
|
probably benign |
Het |
Car5a |
G |
A |
8: 122,643,119 (GRCm39) |
T295I |
probably benign |
Het |
Ccdc174 |
T |
A |
6: 91,862,399 (GRCm39) |
|
probably benign |
Het |
Celsr2 |
G |
A |
3: 108,321,225 (GRCm39) |
A529V |
probably damaging |
Het |
Cep192 |
A |
G |
18: 67,948,935 (GRCm39) |
D252G |
probably benign |
Het |
Clcnka |
A |
G |
4: 141,122,276 (GRCm39) |
F217L |
probably benign |
Het |
Cnot3 |
A |
T |
7: 3,647,929 (GRCm39) |
|
probably benign |
Het |
Coro1c |
A |
G |
5: 113,988,907 (GRCm39) |
|
probably benign |
Het |
Cstf3 |
A |
G |
2: 104,489,585 (GRCm39) |
|
probably null |
Het |
Dcdc2a |
C |
T |
13: 25,291,713 (GRCm39) |
P233S |
probably benign |
Het |
Ddx55 |
A |
G |
5: 124,706,745 (GRCm39) |
T581A |
probably benign |
Het |
Exo1 |
T |
C |
1: 175,728,849 (GRCm39) |
S638P |
possibly damaging |
Het |
Fam135a |
T |
C |
1: 24,068,511 (GRCm39) |
E616G |
possibly damaging |
Het |
Fignl2 |
T |
C |
15: 100,951,161 (GRCm39) |
S374G |
unknown |
Het |
Gm4799 |
A |
T |
10: 82,790,283 (GRCm39) |
|
noncoding transcript |
Het |
Hectd4 |
T |
C |
5: 121,481,288 (GRCm39) |
|
probably null |
Het |
Ighv1-76 |
T |
C |
12: 115,811,658 (GRCm39) |
E65G |
probably damaging |
Het |
Igsf9b |
C |
A |
9: 27,234,531 (GRCm39) |
H465Q |
probably benign |
Het |
Itga9 |
A |
G |
9: 118,492,957 (GRCm39) |
D284G |
probably damaging |
Het |
Itpr1 |
T |
C |
6: 108,450,490 (GRCm39) |
S1940P |
probably benign |
Het |
Kcnb1 |
A |
G |
2: 167,029,991 (GRCm39) |
S185P |
probably benign |
Het |
Kif20a |
G |
A |
18: 34,765,468 (GRCm39) |
A822T |
probably benign |
Het |
Krt1 |
A |
T |
15: 101,758,566 (GRCm39) |
F199L |
probably damaging |
Het |
Lpin2 |
A |
G |
17: 71,539,271 (GRCm39) |
|
probably benign |
Het |
Lrp1b |
A |
C |
2: 40,894,615 (GRCm39) |
D2204E |
probably damaging |
Het |
Mier3 |
T |
A |
13: 111,851,384 (GRCm39) |
N427K |
probably damaging |
Het |
Mmp12 |
GTAATAATAATAATAATAAT |
GTAATAATAATAATAAT |
9: 7,348,446 (GRCm39) |
|
probably benign |
Het |
Mroh3 |
T |
A |
1: 136,113,861 (GRCm39) |
M643L |
probably benign |
Het |
Myh11 |
A |
G |
16: 14,048,664 (GRCm39) |
S548P |
probably damaging |
Het |
Nat8f6 |
A |
C |
6: 85,785,505 (GRCm39) |
L215V |
possibly damaging |
Het |
Nlrp3 |
G |
A |
11: 59,438,960 (GRCm39) |
R179Q |
probably damaging |
Het |
Nup88 |
T |
C |
11: 70,860,497 (GRCm39) |
E94G |
probably benign |
Het |
Pias1 |
A |
T |
9: 62,820,048 (GRCm39) |
D306E |
probably benign |
Het |
Pick1 |
A |
G |
15: 79,133,095 (GRCm39) |
D385G |
probably benign |
Het |
Pitx3 |
A |
T |
19: 46,125,735 (GRCm39) |
|
probably benign |
Het |
Plpp3 |
T |
A |
4: 105,052,159 (GRCm39) |
|
probably null |
Het |
Prlhr |
C |
A |
19: 60,456,059 (GRCm39) |
R169L |
probably damaging |
Het |
Ptprf |
A |
C |
4: 118,067,579 (GRCm39) |
M1872R |
probably damaging |
Het |
Ptprh |
T |
C |
7: 4,604,939 (GRCm39) |
D35G |
probably benign |
Het |
Rnf130 |
A |
G |
11: 49,976,642 (GRCm39) |
|
probably null |
Het |
Rnf17 |
A |
C |
14: 56,743,445 (GRCm39) |
E1337A |
possibly damaging |
Het |
Sdk2 |
A |
G |
11: 113,742,708 (GRCm39) |
Y734H |
probably damaging |
Het |
Slc25a10 |
C |
T |
11: 120,388,943 (GRCm39) |
T269I |
probably damaging |
Het |
Slc5a5 |
C |
A |
8: 71,344,974 (GRCm39) |
R111L |
probably damaging |
Het |
Spart |
A |
T |
3: 55,042,931 (GRCm39) |
M616L |
probably benign |
Het |
Tmem229a |
T |
C |
6: 24,954,686 (GRCm39) |
D356G |
probably damaging |
Het |
Tmem30c |
A |
G |
16: 57,086,925 (GRCm39) |
S293P |
probably damaging |
Het |
Tnfrsf14 |
C |
A |
4: 155,011,055 (GRCm39) |
|
probably null |
Het |
Tnfrsf19 |
C |
T |
14: 61,208,627 (GRCm39) |
R298H |
possibly damaging |
Het |
Ttc21a |
A |
G |
9: 119,787,858 (GRCm39) |
K809E |
probably benign |
Het |
Ttn |
G |
A |
2: 76,580,553 (GRCm39) |
P23447S |
probably damaging |
Het |
Uap1 |
T |
A |
1: 169,978,707 (GRCm39) |
|
probably null |
Het |
Wdr82 |
A |
G |
9: 106,062,503 (GRCm39) |
Q252R |
probably benign |
Het |
Zfp523 |
T |
C |
17: 28,413,967 (GRCm39) |
I34T |
probably benign |
Het |
Zfp808 |
T |
A |
13: 62,319,069 (GRCm39) |
H99Q |
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 |
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'- CAGTGTTTCTGACCCCAAACTG -3'
(R):5'- GAAGATGGTCTTTCCCCTCATC -3'
Sequencing Primer
(F):5'- CCCCAAACTGAATGTTAACAGGGTG -3'
(R):5'- GATGGTCTTTCCCCTCATCATGATTG -3'
|
Posted On |
2017-02-10 |