Incidental Mutation 'R9609:Slc4a11'
| ID |
724077 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.488)
|
| Stock # |
R9609 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
130526033-130539439 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 130530035 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 248
(T248S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096963
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099362]
[ENSMUST00000127397]
|
| AlphaFold |
A2AJN7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000099362
AA Change: T248S
PolyPhen 2
Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000096963
Gene: ENSMUSG00000074796
AA Change: T248S
| 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: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| 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 |
|---|
| Abca13 |
T |
C |
11: 9,208,549 (GRCm39) |
S241P |
probably damaging |
Het |
| Adam23 |
A |
T |
1: 63,576,102 (GRCm39) |
M295L |
probably benign |
Het |
| Ano8 |
T |
A |
8: 71,933,726 (GRCm39) |
D522V |
unknown |
Het |
| Asgr2 |
T |
C |
11: 69,988,667 (GRCm39) |
L120P |
probably damaging |
Het |
| Atp5mc2 |
A |
G |
15: 102,573,580 (GRCm39) |
F79L |
probably damaging |
Het |
| Baiap2 |
C |
T |
11: 119,847,958 (GRCm39) |
R29C |
probably damaging |
Het |
| Bicdl2 |
A |
G |
17: 23,884,513 (GRCm39) |
E145G |
|
Het |
| Cad |
T |
C |
5: 31,228,018 (GRCm39) |
|
probably null |
Het |
| Dhrs7b |
A |
G |
11: 60,735,121 (GRCm39) |
R51G |
possibly damaging |
Het |
| Dnah3 |
A |
T |
7: 119,670,236 (GRCm39) |
Y694N |
probably damaging |
Het |
| Dnaja4 |
G |
A |
9: 54,616,644 (GRCm39) |
G216S |
probably null |
Het |
| Dync1h1 |
T |
C |
12: 110,607,362 (GRCm39) |
V2651A |
probably benign |
Het |
| Fbxw28 |
T |
C |
9: 109,167,515 (GRCm39) |
T81A |
probably benign |
Het |
| Fga |
A |
T |
3: 82,940,064 (GRCm39) |
I573F |
probably damaging |
Het |
| Fgd6 |
T |
A |
10: 93,879,674 (GRCm39) |
I176N |
probably damaging |
Het |
| Fhl5 |
A |
T |
4: 25,214,653 (GRCm39) |
C41* |
probably null |
Het |
| Fibcd1 |
A |
G |
2: 31,728,653 (GRCm39) |
V68A |
probably benign |
Het |
| Fign |
T |
C |
2: 63,810,286 (GRCm39) |
D328G |
probably benign |
Het |
| Gtpbp10 |
A |
C |
5: 5,607,396 (GRCm39) |
F15C |
probably damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,555,346 (GRCm39) |
V2475D |
probably damaging |
Het |
| Iglv3 |
A |
G |
16: 19,060,221 (GRCm39) |
S36P |
probably damaging |
Het |
| Igsf10 |
G |
T |
3: 59,226,869 (GRCm39) |
T2268N |
probably damaging |
Het |
| Krt75 |
A |
G |
15: 101,474,677 (GRCm39) |
I473T |
probably benign |
Het |
| Lcn3 |
A |
G |
2: 25,657,596 (GRCm39) |
E162G |
possibly damaging |
Het |
| Lnpk |
A |
G |
2: 74,401,298 (GRCm39) |
V17A |
probably damaging |
Het |
| Malrd1 |
A |
G |
2: 15,700,081 (GRCm39) |
S643G |
unknown |
Het |
| Mcm5 |
C |
T |
8: 75,844,168 (GRCm39) |
S313F |
probably benign |
Het |
| Mlip |
T |
A |
9: 77,045,797 (GRCm39) |
L894F |
possibly damaging |
Het |
| Muc4 |
A |
T |
16: 32,577,234 (GRCm39) |
T175S |
|
Het |
| Nkpd1 |
A |
C |
7: 19,257,462 (GRCm39) |
I414L |
possibly damaging |
Het |
| Nrxn2 |
C |
A |
19: 6,540,203 (GRCm39) |
N834K |
probably damaging |
Het |
| Oacyl |
A |
G |
18: 65,843,599 (GRCm39) |
T99A |
probably benign |
Het |
| Patj |
T |
G |
4: 98,576,473 (GRCm39) |
F570L |
probably benign |
Het |
| Piwil4 |
T |
C |
9: 14,614,443 (GRCm39) |
T107A |
|
Het |
| Ppp1r12b |
G |
A |
1: 134,824,084 (GRCm39) |
Q180* |
probably null |
Het |
| Prpf4b |
A |
G |
13: 35,068,032 (GRCm39) |
D287G |
unknown |
Het |
| Rab17 |
T |
C |
1: 90,891,907 (GRCm39) |
Y39C |
probably damaging |
Het |
| Rbsn |
T |
A |
6: 92,179,565 (GRCm39) |
I125F |
probably damaging |
Het |
| Rnf207 |
C |
A |
4: 152,402,222 (GRCm39) |
G74C |
probably damaging |
Het |
| Rrs1 |
T |
C |
1: 9,616,518 (GRCm39) |
L257P |
probably benign |
Het |
| Ryr2 |
T |
C |
13: 11,683,848 (GRCm39) |
E3072G |
probably damaging |
Het |
| Scn8a |
A |
C |
15: 100,834,407 (GRCm39) |
I68L |
possibly damaging |
Het |
| Slc14a1 |
C |
A |
18: 78,152,807 (GRCm39) |
A367S |
probably damaging |
Het |
| Slc26a7 |
T |
A |
4: 14,532,636 (GRCm39) |
I413F |
probably damaging |
Het |
| Spen |
A |
G |
4: 141,215,419 (GRCm39) |
I471T |
unknown |
Het |
| Tbpl2 |
C |
T |
2: 23,977,197 (GRCm39) |
D274N |
probably damaging |
Het |
| Timm23 |
A |
G |
14: 31,902,543 (GRCm39) |
M200T |
probably benign |
Het |
| Tlr3 |
T |
C |
8: 45,850,117 (GRCm39) |
I851V |
probably benign |
Het |
| Tnfrsf18 |
T |
A |
4: 156,113,208 (GRCm39) |
V298E |
possibly damaging |
Het |
| Trav6-3 |
A |
G |
14: 53,667,618 (GRCm39) |
N41S |
possibly damaging |
Het |
| Trim17 |
C |
A |
11: 58,855,964 (GRCm39) |
A7D |
probably damaging |
Het |
| Ttbk1 |
T |
C |
17: 46,758,148 (GRCm39) |
T829A |
probably damaging |
Het |
| Ugt3a1 |
A |
C |
15: 9,361,905 (GRCm39) |
E227A |
probably damaging |
Het |
| Vmn1r218 |
C |
T |
13: 23,320,839 (GRCm39) |
T62I |
probably benign |
Het |
| Vmn2r100 |
T |
C |
17: 19,743,732 (GRCm39) |
L465P |
probably damaging |
Het |
| Vps13c |
A |
T |
9: 67,841,831 (GRCm39) |
Q1951L |
probably damaging |
Het |
| Wdcp |
A |
G |
12: 4,900,258 (GRCm39) |
D38G |
probably damaging |
Het |
| Xdh |
T |
A |
17: 74,231,990 (GRCm39) |
Q240L |
possibly damaging |
Het |
| Zc3h4 |
T |
A |
7: 16,150,751 (GRCm39) |
V23D |
unknown |
Het |
| Zkscan8 |
C |
A |
13: 21,709,434 (GRCm39) |
V155F |
possibly 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 |
|
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 |
|
Z1177:Slc4a11
|
UTSW |
2 |
130,533,555 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATAGACCGAGTTAGCCCTGG -3'
(R):5'- TAGTGACATAGTGACAAGGTGC -3'
Sequencing Primer
(F):5'- CCCTGGTTGGCCCATGC -3'
(R):5'- CATTAATGCCTGAGCTTATGGACC -3'
|
| Posted On |
2022-09-12 |
Incidental Mutation