Incidental Mutation 'R8371:Slc26a3'
ID |
646405 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc26a3
|
Ensembl Gene |
ENSMUSG00000001225 |
Gene Name |
solute carrier family 26, member 3 |
Synonyms |
9130013M11Rik, 9030623B18Rik, Dra |
MMRRC Submission |
067740-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.770)
|
Stock # |
R8371 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
31483141-31523921 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 31502541 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 254
(D254V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000001254
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001254]
[ENSMUST00000110854]
[ENSMUST00000167432]
[ENSMUST00000171616]
|
AlphaFold |
Q9WVC8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000001254
AA Change: D254V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000001254 Gene: ENSMUSG00000001225 AA Change: D254V
Domain | Start | End | E-Value | Type |
Pfam:Sulfate_transp
|
73 |
468 |
3.1e-115 |
PFAM |
low complexity region
|
475 |
481 |
N/A |
INTRINSIC |
Pfam:STAS
|
519 |
709 |
2e-40 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000110854
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000167432
|
SMART Domains |
Protein: ENSMUSP00000130676 Gene: ENSMUSG00000001225
Domain | Start | End | E-Value | Type |
Pfam:Sulfate_tra_GLY
|
58 |
141 |
5.3e-31 |
PFAM |
Pfam:Sulfate_transp
|
186 |
235 |
8.9e-13 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000171616
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: This gene encodes a member of the solute carrier/sulfate transporter family. The encoded protein is predominantly expressed in the intestine where it is essential for chloride absorption. Disruption of this gene results in chloride-rich diarrhea and compensatory up-regulation of ion-absorbing transporters. [provided by RefSeq, Dec 2012] PHENOTYPE: Homozygotes for a null allele display partial postnatal lethality; survivors are small and show lower luminal Cl-/HCO3- exchange activity, acidic chloridorrhea, volume depletion, upregulation of ion transporters, dilated colons, higher crypt proliferation and plasma aldosterone, and premature death. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8a |
G |
T |
11: 109,945,473 (GRCm39) |
Q1050K |
probably benign |
Het |
B4galt5 |
A |
G |
2: 167,151,145 (GRCm39) |
M121T |
probably damaging |
Het |
Birc2 |
A |
G |
9: 7,849,427 (GRCm39) |
L549P |
probably damaging |
Het |
Cacna1b |
T |
C |
2: 24,610,036 (GRCm39) |
N368S |
possibly damaging |
Het |
Cbr1 |
A |
G |
16: 93,406,779 (GRCm39) |
E165G |
probably damaging |
Het |
Ccdc178 |
T |
C |
18: 21,944,561 (GRCm39) |
D866G |
possibly damaging |
Het |
Cd40 |
G |
A |
2: 164,908,458 (GRCm39) |
G178E |
probably damaging |
Het |
Cers1 |
T |
A |
8: 70,782,223 (GRCm39) |
L349H |
probably benign |
Het |
Chd8 |
T |
C |
14: 52,470,275 (GRCm39) |
K445R |
probably benign |
Het |
Clca3a2 |
G |
T |
3: 144,513,114 (GRCm39) |
S477* |
probably null |
Het |
Clec4a1 |
T |
A |
6: 122,910,882 (GRCm39) |
*246R |
probably null |
Het |
CN725425 |
T |
C |
15: 91,124,973 (GRCm39) |
I171T |
probably benign |
Het |
Crybg3 |
A |
G |
16: 59,377,414 (GRCm39) |
M1280T |
probably benign |
Het |
Csf1r |
A |
T |
18: 61,250,663 (GRCm39) |
Q458L |
probably benign |
Het |
Cyp3a11 |
A |
T |
5: 145,805,438 (GRCm39) |
V193E |
possibly damaging |
Het |
Cys1 |
A |
G |
12: 24,718,694 (GRCm39) |
I53T |
probably benign |
Het |
Dhrs3 |
A |
C |
4: 144,645,953 (GRCm39) |
|
probably null |
Het |
Dhx57 |
T |
C |
17: 80,582,919 (GRCm39) |
R229G |
probably benign |
Het |
Dhx9 |
T |
C |
1: 153,331,961 (GRCm39) |
N1336D |
unknown |
Het |
Dmgdh |
T |
A |
13: 93,845,238 (GRCm39) |
H410Q |
probably benign |
Het |
Dmxl1 |
T |
A |
18: 50,031,781 (GRCm39) |
M2225K |
probably benign |
Het |
Eif4g3 |
T |
G |
4: 137,824,156 (GRCm39) |
Y80D |
probably damaging |
Het |
Ephx4 |
A |
T |
5: 107,561,384 (GRCm39) |
I164F |
possibly damaging |
Het |
Eppk1 |
C |
T |
15: 75,994,319 (GRCm39) |
R854Q |
probably benign |
Het |
Fhl4 |
G |
A |
10: 84,934,637 (GRCm39) |
A48V |
probably benign |
Het |
Fmn2 |
T |
C |
1: 174,437,173 (GRCm39) |
L1048S |
unknown |
Het |
Gemin5 |
T |
C |
11: 58,017,384 (GRCm39) |
M1212V |
probably benign |
Het |
Gm9195 |
C |
T |
14: 72,697,899 (GRCm39) |
V1294I |
probably benign |
Het |
Gpr55 |
A |
T |
1: 85,868,849 (GRCm39) |
V244E |
probably damaging |
Het |
Hgfac |
T |
A |
5: 35,202,787 (GRCm39) |
F429Y |
probably damaging |
Het |
Jade2 |
T |
A |
11: 51,715,959 (GRCm39) |
E415D |
probably benign |
Het |
Kcnj4 |
T |
A |
15: 79,369,342 (GRCm39) |
I213F |
probably damaging |
Het |
Kcnq5 |
G |
A |
1: 21,549,648 (GRCm39) |
R360C |
probably damaging |
Het |
Klhl33 |
C |
T |
14: 51,129,689 (GRCm39) |
R312Q |
probably damaging |
Het |
Krt82 |
T |
C |
15: 101,453,546 (GRCm39) |
E280G |
probably benign |
Het |
Lemd1 |
C |
A |
1: 132,156,687 (GRCm39) |
Q40K |
probably damaging |
Het |
Lmo7 |
T |
C |
14: 102,124,444 (GRCm39) |
L423P |
possibly damaging |
Het |
Lrp8 |
A |
G |
4: 107,726,268 (GRCm39) |
Y773C |
probably damaging |
Het |
Miga2 |
AAGAG |
AAG |
2: 30,265,755 (GRCm39) |
|
probably null |
Het |
Mroh8 |
A |
T |
2: 157,094,896 (GRCm39) |
Y363* |
probably null |
Het |
Or2n1c |
G |
A |
17: 38,519,189 (GRCm39) |
A18T |
probably benign |
Het |
Or51a25 |
C |
A |
7: 102,372,790 (GRCm39) |
K302N |
probably damaging |
Het |
Or5p61 |
G |
A |
7: 107,758,435 (GRCm39) |
T215I |
probably benign |
Het |
Pcdha2 |
T |
C |
18: 37,073,316 (GRCm39) |
Y316H |
possibly damaging |
Het |
Pcdha6 |
T |
A |
18: 37,102,920 (GRCm39) |
C704* |
probably null |
Het |
Pik3c2g |
G |
A |
6: 139,881,782 (GRCm39) |
V923M |
unknown |
Het |
Rhd |
A |
G |
4: 134,603,694 (GRCm39) |
S72G |
probably benign |
Het |
Rhot1 |
T |
C |
11: 80,134,292 (GRCm39) |
L295P |
probably damaging |
Het |
Rrp1b |
A |
G |
17: 32,268,458 (GRCm39) |
E139G |
possibly damaging |
Het |
Scnn1a |
T |
G |
6: 125,320,806 (GRCm39) |
Y620D |
possibly damaging |
Het |
Serpinb12 |
A |
T |
1: 106,884,135 (GRCm39) |
I294L |
probably benign |
Het |
Serpinb3d |
T |
C |
1: 107,008,469 (GRCm39) |
D132G |
probably damaging |
Het |
Srrm1 |
A |
T |
4: 135,052,532 (GRCm39) |
I614N |
unknown |
Het |
Stt3b |
A |
G |
9: 115,095,243 (GRCm39) |
Y263H |
probably damaging |
Het |
Taf7 |
T |
A |
18: 37,776,552 (GRCm39) |
K5I |
probably damaging |
Het |
Tbck |
C |
A |
3: 132,458,285 (GRCm39) |
H638Q |
possibly damaging |
Het |
Tnfsf9 |
A |
C |
17: 57,412,541 (GRCm39) |
D37A |
probably benign |
Het |
Trim71 |
C |
A |
9: 114,344,857 (GRCm39) |
V354F |
probably benign |
Het |
Tspoap1 |
T |
G |
11: 87,669,127 (GRCm39) |
C1467G |
probably benign |
Het |
Xirp1 |
C |
T |
9: 119,848,499 (GRCm39) |
R128Q |
possibly damaging |
Het |
Zc3h12d |
GCCC |
GCC |
10: 7,715,735 (GRCm39) |
|
probably null |
Het |
Zfhx2 |
T |
C |
14: 55,301,549 (GRCm39) |
D2145G |
probably damaging |
Het |
Zfy2 |
T |
C |
Y: 2,117,168 (GRCm39) |
T220A |
probably benign |
Het |
|
Other mutations in Slc26a3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01446:Slc26a3
|
APN |
12 |
31,502,490 (GRCm39) |
splice site |
probably benign |
|
IGL01717:Slc26a3
|
APN |
12 |
31,513,476 (GRCm39) |
missense |
probably benign |
0.11 |
IGL02151:Slc26a3
|
APN |
12 |
31,497,830 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02374:Slc26a3
|
APN |
12 |
31,520,832 (GRCm39) |
splice site |
probably benign |
|
IGL02445:Slc26a3
|
APN |
12 |
31,507,051 (GRCm39) |
missense |
possibly damaging |
0.65 |
IGL02526:Slc26a3
|
APN |
12 |
31,507,095 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02831:Slc26a3
|
APN |
12 |
31,502,628 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4486001:Slc26a3
|
UTSW |
12 |
31,520,949 (GRCm39) |
missense |
probably benign |
0.01 |
R0422:Slc26a3
|
UTSW |
12 |
31,515,848 (GRCm39) |
missense |
possibly damaging |
0.90 |
R0544:Slc26a3
|
UTSW |
12 |
31,497,739 (GRCm39) |
missense |
probably benign |
|
R0781:Slc26a3
|
UTSW |
12 |
31,515,812 (GRCm39) |
missense |
possibly damaging |
0.90 |
R1561:Slc26a3
|
UTSW |
12 |
31,516,451 (GRCm39) |
missense |
probably benign |
0.18 |
R1860:Slc26a3
|
UTSW |
12 |
31,515,845 (GRCm39) |
missense |
probably benign |
|
R1954:Slc26a3
|
UTSW |
12 |
31,500,815 (GRCm39) |
missense |
probably damaging |
0.98 |
R1967:Slc26a3
|
UTSW |
12 |
31,515,777 (GRCm39) |
missense |
probably damaging |
0.99 |
R2240:Slc26a3
|
UTSW |
12 |
31,507,071 (GRCm39) |
missense |
probably damaging |
1.00 |
R2508:Slc26a3
|
UTSW |
12 |
31,520,902 (GRCm39) |
missense |
probably damaging |
0.99 |
R3894:Slc26a3
|
UTSW |
12 |
31,514,719 (GRCm39) |
missense |
probably damaging |
1.00 |
R3914:Slc26a3
|
UTSW |
12 |
31,503,905 (GRCm39) |
missense |
probably benign |
0.00 |
R3978:Slc26a3
|
UTSW |
12 |
31,515,859 (GRCm39) |
splice site |
probably null |
|
R4701:Slc26a3
|
UTSW |
12 |
31,497,773 (GRCm39) |
missense |
probably damaging |
1.00 |
R4713:Slc26a3
|
UTSW |
12 |
31,507,079 (GRCm39) |
missense |
possibly damaging |
0.75 |
R5024:Slc26a3
|
UTSW |
12 |
31,503,907 (GRCm39) |
missense |
probably benign |
|
R5058:Slc26a3
|
UTSW |
12 |
31,520,964 (GRCm39) |
missense |
possibly damaging |
0.66 |
R5168:Slc26a3
|
UTSW |
12 |
31,518,553 (GRCm39) |
missense |
possibly damaging |
0.81 |
R5361:Slc26a3
|
UTSW |
12 |
31,500,980 (GRCm39) |
critical splice donor site |
probably null |
|
R5715:Slc26a3
|
UTSW |
12 |
31,498,842 (GRCm39) |
critical splice donor site |
probably null |
|
R5951:Slc26a3
|
UTSW |
12 |
31,502,714 (GRCm39) |
intron |
probably benign |
|
R6662:Slc26a3
|
UTSW |
12 |
31,507,345 (GRCm39) |
nonsense |
probably null |
|
R6895:Slc26a3
|
UTSW |
12 |
31,513,523 (GRCm39) |
missense |
probably damaging |
0.96 |
R7069:Slc26a3
|
UTSW |
12 |
31,500,934 (GRCm39) |
missense |
probably damaging |
0.96 |
R7484:Slc26a3
|
UTSW |
12 |
31,497,787 (GRCm39) |
missense |
probably benign |
0.22 |
R7744:Slc26a3
|
UTSW |
12 |
31,513,464 (GRCm39) |
critical splice acceptor site |
probably null |
|
R8192:Slc26a3
|
UTSW |
12 |
31,518,541 (GRCm39) |
missense |
probably benign |
0.05 |
R8327:Slc26a3
|
UTSW |
12 |
31,516,430 (GRCm39) |
missense |
possibly damaging |
0.81 |
R8356:Slc26a3
|
UTSW |
12 |
31,516,505 (GRCm39) |
missense |
probably benign |
0.06 |
R8550:Slc26a3
|
UTSW |
12 |
31,511,739 (GRCm39) |
missense |
probably damaging |
1.00 |
R9057:Slc26a3
|
UTSW |
12 |
31,520,958 (GRCm39) |
missense |
probably benign |
0.00 |
R9221:Slc26a3
|
UTSW |
12 |
31,513,470 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9484:Slc26a3
|
UTSW |
12 |
31,511,785 (GRCm39) |
missense |
probably damaging |
0.98 |
R9746:Slc26a3
|
UTSW |
12 |
31,499,145 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TTTCAGGGCTCACAGTTGACAG -3'
(R):5'- TCACAGCAACCTGGAGTACAAG -3'
Sequencing Primer
(F):5'- TTGACAGCAGCTGAGCATC -3'
(R):5'- GGAGTACAAGACGGCTTTCTCTC -3'
|
Posted On |
2020-09-02 |