Incidental Mutation 'R5168:Slc26a3'
| ID |
397404 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc26a3
|
| Ensembl Gene |
ENSMUSG00000001225 |
| Gene Name |
solute carrier family 26, member 3 |
| Synonyms |
9130013M11Rik, 9030623B18Rik, Dra |
| MMRRC Submission |
042748-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.770)
|
| Stock # |
R5168 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
31483141-31523921 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 31518553 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 674
(V674I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001254
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001254]
[ENSMUST00000171616]
|
| AlphaFold |
Q9WVC8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000001254
AA Change: V674I
PolyPhen 2
Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000001254
Gene: ENSMUSG00000001225
AA Change: V674I
| 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 |
noncoding transcript
Transcript: ENSMUST00000109275
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171616
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
96% (47/49) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
T |
C |
4: 53,086,070 (GRCm39) |
N478D |
probably benign |
Het |
| Acsl1 |
T |
A |
8: 46,966,303 (GRCm39) |
|
probably benign |
Het |
| Aox1 |
T |
A |
1: 58,088,561 (GRCm39) |
C116S |
probably damaging |
Het |
| Bag6 |
T |
C |
17: 35,363,671 (GRCm39) |
L785P |
probably damaging |
Het |
| Calcr |
T |
C |
6: 3,708,610 (GRCm39) |
N192S |
probably benign |
Het |
| Cntrl |
T |
A |
2: 35,047,667 (GRCm39) |
L1414H |
probably damaging |
Het |
| Cntrob |
T |
A |
11: 69,190,816 (GRCm39) |
I849F |
possibly damaging |
Het |
| Col6a3 |
C |
T |
1: 90,701,361 (GRCm39) |
W2518* |
probably null |
Het |
| Cxcl15 |
T |
A |
5: 90,943,142 (GRCm39) |
I48K |
probably damaging |
Het |
| Dab2 |
T |
C |
15: 6,365,924 (GRCm39) |
|
probably benign |
Het |
| Ddx54 |
A |
G |
5: 120,755,097 (GRCm39) |
E82G |
probably benign |
Het |
| Dock1 |
T |
C |
7: 134,720,637 (GRCm39) |
W1249R |
probably damaging |
Het |
| Fras1 |
A |
C |
5: 96,856,616 (GRCm39) |
M2000L |
probably benign |
Het |
| Gpr31b |
A |
T |
17: 13,270,326 (GRCm39) |
I281N |
probably damaging |
Het |
| Gvin3 |
T |
C |
7: 106,196,054 (GRCm39) |
|
noncoding transcript |
Het |
| Haus5 |
T |
C |
7: 30,357,136 (GRCm39) |
T432A |
possibly damaging |
Het |
| Hecw2 |
A |
G |
1: 53,952,459 (GRCm39) |
S925P |
probably damaging |
Het |
| Katnal1 |
A |
G |
5: 148,858,132 (GRCm39) |
M26T |
possibly damaging |
Het |
| Mccc1 |
C |
T |
3: 36,044,929 (GRCm39) |
W71* |
probably null |
Het |
| Muc6 |
G |
A |
7: 141,223,981 (GRCm39) |
|
probably benign |
Het |
| Nrbp1 |
T |
A |
5: 31,407,481 (GRCm39) |
V397D |
probably damaging |
Het |
| Nt5dc1 |
T |
A |
10: 34,273,236 (GRCm39) |
E187D |
probably benign |
Het |
| Or1e19 |
T |
A |
11: 73,316,669 (GRCm39) |
I47F |
probably benign |
Het |
| Or51f23 |
C |
T |
7: 102,453,528 (GRCm39) |
A281V |
probably benign |
Het |
| Polr1c |
G |
T |
17: 46,558,635 (GRCm39) |
|
probably benign |
Het |
| Pramel27 |
T |
C |
4: 143,579,768 (GRCm39) |
V451A |
probably benign |
Het |
| Ralgapa1 |
A |
G |
12: 55,804,817 (GRCm39) |
V493A |
probably benign |
Het |
| Ryr2 |
T |
C |
13: 11,767,207 (GRCm39) |
T1228A |
probably benign |
Het |
| Spata31f1a |
C |
T |
4: 42,851,488 (GRCm39) |
V223I |
probably damaging |
Het |
| Srp68 |
C |
A |
11: 116,156,300 (GRCm39) |
E147D |
probably damaging |
Het |
| Tacr3 |
T |
C |
3: 134,535,320 (GRCm39) |
I96T |
probably damaging |
Het |
| Tmem236 |
T |
C |
2: 14,197,139 (GRCm39) |
|
probably null |
Het |
| Tmem62 |
T |
A |
2: 120,824,088 (GRCm39) |
N254K |
probably benign |
Het |
| Tmem79 |
A |
T |
3: 88,240,651 (GRCm39) |
L99Q |
probably damaging |
Het |
| Trav6-5 |
A |
T |
14: 53,728,973 (GRCm39) |
N78Y |
probably benign |
Het |
| Trim33 |
C |
T |
3: 103,248,997 (GRCm39) |
Q807* |
probably null |
Het |
| Ugt1a10 |
A |
G |
1: 87,983,531 (GRCm39) |
T110A |
probably benign |
Het |
| Vcl |
C |
T |
14: 21,060,170 (GRCm39) |
T603I |
probably damaging |
Het |
| Vps8 |
A |
T |
16: 21,276,195 (GRCm39) |
T243S |
probably damaging |
Het |
| Vps8 |
A |
C |
16: 21,351,849 (GRCm39) |
I323L |
probably benign |
Het |
| Zfp746 |
G |
C |
6: 48,041,329 (GRCm39) |
Q465E |
possibly damaging |
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 |
|
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 |
|
R8371:Slc26a3
|
UTSW |
12 |
31,502,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- CGTTCTAGCCATTTCCACAGAAC -3'
(R):5'- TTAACGGAACTTGGGCTGGG -3'
Sequencing Primer
(F):5'- AGCATAATCAGAGGTGATCTTGTG -3'
(R):5'- AGTCACATGAGGCCCTGG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation