Incidental Mutation 'R9006:Slc4a11'
| ID |
685273 |
| 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 |
068836-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.488)
|
| Stock # |
R9006 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
130526033-130539439 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 130532773 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 227
(V227M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096963
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099362]
[ENSMUST00000127397]
|
| AlphaFold |
A2AJN7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099362
AA Change: V227M
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000096963
Gene: ENSMUSG00000074796
AA Change: V227M
| 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: ENSMUST00000127397
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
97% (72/74) |
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc6 |
T |
C |
7: 45,665,820 (GRCm39) |
N267D |
probably benign |
Het |
| Akap1 |
A |
T |
11: 88,723,996 (GRCm39) |
M803K |
possibly damaging |
Het |
| Amer2 |
G |
C |
14: 60,617,376 (GRCm39) |
D524H |
probably damaging |
Het |
| Ankrd31 |
T |
C |
13: 96,967,104 (GRCm39) |
F528L |
probably benign |
Het |
| Arhgef10l |
A |
G |
4: 140,271,659 (GRCm39) |
Y624H |
probably benign |
Het |
| Bltp2 |
T |
C |
11: 78,164,345 (GRCm39) |
F1182L |
possibly damaging |
Het |
| Cfap73 |
G |
A |
5: 120,767,760 (GRCm39) |
Q264* |
probably null |
Het |
| Clca3a2 |
C |
A |
3: 144,783,789 (GRCm39) |
A609S |
probably damaging |
Het |
| Cntfr |
A |
T |
4: 41,661,971 (GRCm39) |
|
probably null |
Het |
| Cyp2c65 |
C |
T |
19: 39,070,714 (GRCm39) |
T299I |
probably damaging |
Het |
| Cyp2j5 |
G |
T |
4: 96,552,149 (GRCm39) |
N33K |
probably benign |
Het |
| Dhcr7 |
T |
A |
7: 143,394,978 (GRCm39) |
S165T |
probably benign |
Het |
| Dnah10 |
A |
T |
5: 124,820,783 (GRCm39) |
D539V |
probably benign |
Het |
| Ebag9 |
A |
T |
15: 44,503,703 (GRCm39) |
Q176L |
probably benign |
Het |
| Fbxw20 |
T |
A |
9: 109,062,530 (GRCm39) |
|
probably benign |
Het |
| Ftmt |
A |
G |
18: 52,465,112 (GRCm39) |
K143E |
possibly damaging |
Het |
| Gcc2 |
C |
T |
10: 58,103,801 (GRCm39) |
R76C |
probably damaging |
Het |
| Gcn1 |
A |
G |
5: 115,719,566 (GRCm39) |
T354A |
probably benign |
Het |
| Gtf2h1 |
A |
G |
7: 46,458,262 (GRCm39) |
M271V |
probably benign |
Het |
| Iah1 |
G |
A |
12: 21,367,402 (GRCm39) |
G36D |
probably damaging |
Het |
| Ism2 |
G |
T |
12: 87,326,969 (GRCm39) |
D323E |
probably damaging |
Het |
| Itih4 |
A |
G |
14: 30,612,086 (GRCm39) |
I184V |
probably damaging |
Het |
| Kdm4d |
C |
A |
9: 14,374,833 (GRCm39) |
V342L |
probably benign |
Het |
| Lmbr1 |
A |
G |
5: 29,551,900 (GRCm39) |
F62L |
probably benign |
Het |
| Lmo7 |
TCGGATTCTGTGGC |
TC |
14: 102,155,072 (GRCm39) |
|
probably benign |
Het |
| Lypd8 |
T |
A |
11: 58,277,586 (GRCm39) |
S123T |
possibly damaging |
Het |
| Mical2 |
T |
A |
7: 111,981,323 (GRCm39) |
N432K |
probably benign |
Het |
| Mrgprb4 |
A |
G |
7: 47,848,343 (GRCm39) |
V195A |
probably benign |
Het |
| Ms4a4c |
A |
T |
19: 11,396,360 (GRCm39) |
I106F |
probably benign |
Het |
| Myo6 |
A |
G |
9: 80,136,140 (GRCm39) |
T88A |
unknown |
Het |
| Naa35 |
A |
G |
13: 59,748,842 (GRCm39) |
D158G |
possibly damaging |
Het |
| Nol12 |
A |
G |
15: 78,824,291 (GRCm39) |
E137G |
possibly damaging |
Het |
| Nsun4 |
A |
G |
4: 115,897,316 (GRCm39) |
S232P |
probably damaging |
Het |
| Odad2 |
A |
T |
18: 7,294,516 (GRCm39) |
N32K |
probably benign |
Het |
| Odam |
A |
T |
5: 88,040,298 (GRCm39) |
I255L |
probably benign |
Het |
| Or14j8 |
A |
T |
17: 38,263,545 (GRCm39) |
Y123* |
probably null |
Het |
| Or1ad8 |
A |
T |
11: 50,897,975 (GRCm39) |
M59L |
probably damaging |
Het |
| Or1e26 |
T |
A |
11: 73,480,036 (GRCm39) |
H176L |
probably benign |
Het |
| Or2n1d |
T |
C |
17: 38,646,723 (GRCm39) |
V225A |
possibly damaging |
Het |
| Or2w3b |
G |
A |
11: 58,623,188 (GRCm39) |
Q268* |
probably null |
Het |
| Or4b1 |
T |
G |
2: 89,980,327 (GRCm39) |
T8P |
probably damaging |
Het |
| Pcnx2 |
T |
C |
8: 126,613,996 (GRCm39) |
D485G |
probably benign |
Het |
| Polr3b |
T |
A |
10: 84,467,697 (GRCm39) |
N92K |
probably benign |
Het |
| Rpgrip1l |
T |
A |
8: 92,007,436 (GRCm39) |
M385L |
probably benign |
Het |
| Sdk1 |
A |
T |
5: 141,923,321 (GRCm39) |
N314I |
probably damaging |
Het |
| Shc4 |
T |
C |
2: 125,514,394 (GRCm39) |
|
probably benign |
Het |
| Slc45a1 |
A |
C |
4: 150,722,731 (GRCm39) |
C384W |
probably damaging |
Het |
| Sorbs2 |
A |
C |
8: 46,258,858 (GRCm39) |
S1132R |
possibly damaging |
Het |
| Spata31e3 |
G |
A |
13: 50,401,589 (GRCm39) |
H246Y |
possibly damaging |
Het |
| Spata31f1e |
C |
T |
4: 42,792,546 (GRCm39) |
G529S |
probably benign |
Het |
| Spta1 |
T |
A |
1: 174,047,537 (GRCm39) |
I1727K |
probably damaging |
Het |
| Srgap2 |
T |
C |
1: 131,283,307 (GRCm39) |
E258G |
probably damaging |
Het |
| Taco1 |
A |
T |
11: 105,956,931 (GRCm39) |
|
probably benign |
Het |
| Taf2 |
A |
T |
15: 54,909,301 (GRCm39) |
M648K |
possibly damaging |
Het |
| Taf7 |
A |
G |
18: 37,775,757 (GRCm39) |
V270A |
probably benign |
Het |
| Tbkbp1 |
G |
A |
11: 97,029,707 (GRCm39) |
T483I |
unknown |
Het |
| Tesc |
A |
G |
5: 118,184,378 (GRCm39) |
|
probably null |
Het |
| Tgs1 |
A |
G |
4: 3,595,427 (GRCm39) |
N532S |
probably benign |
Het |
| Tmco1 |
C |
T |
1: 167,136,132 (GRCm39) |
|
probably benign |
Het |
| Tmem196 |
T |
A |
12: 119,978,510 (GRCm39) |
C84S |
probably damaging |
Het |
| Topbp1 |
C |
T |
9: 103,182,499 (GRCm39) |
|
probably benign |
Het |
| Ttc16 |
A |
G |
2: 32,652,985 (GRCm39) |
S615P |
probably benign |
Het |
| Ttc21a |
T |
A |
9: 119,792,130 (GRCm39) |
|
probably benign |
Het |
| Tuba3b |
T |
C |
6: 145,565,564 (GRCm39) |
V344A |
possibly damaging |
Het |
| Tubgcp4 |
T |
C |
2: 121,015,251 (GRCm39) |
F320L |
probably benign |
Het |
| Tusc3 |
T |
A |
8: 39,538,627 (GRCm39) |
L222* |
probably null |
Het |
| Ubr4 |
G |
A |
4: 139,172,003 (GRCm39) |
|
probably null |
Het |
| Uncx |
G |
T |
5: 139,532,936 (GRCm39) |
V334L |
possibly damaging |
Het |
| Vezf1 |
C |
A |
11: 87,965,542 (GRCm39) |
F261L |
probably damaging |
Het |
| Vezt |
T |
A |
10: 93,809,874 (GRCm39) |
I556L |
probably benign |
Het |
| Vmn1r172 |
C |
T |
7: 23,359,402 (GRCm39) |
R96C |
probably benign |
Het |
| Zfp383 |
A |
G |
7: 29,608,070 (GRCm39) |
M1V |
probably null |
Het |
| Zfp558 |
A |
T |
9: 18,367,776 (GRCm39) |
S337R |
possibly damaging |
Het |
| Zranb1 |
T |
A |
7: 132,572,909 (GRCm39) |
|
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 |
|
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 |
|
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 |
|
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'- GCAACAGGGACTTTGCAAG -3'
(R):5'- GTACACCATATGCATGCCACAG -3'
Sequencing Primer
(F):5'- GGGACTTTGCAAGAACATCTC -3'
(R):5'- AGGGAATTGAACTCTGCTCC -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation