Incidental Mutation 'R6543:Slc26a8'
| ID |
520970 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc26a8
|
| Ensembl Gene |
ENSMUSG00000036196 |
| Gene Name |
solute carrier family 26, member 8 |
| Synonyms |
|
| MMRRC Submission |
044669-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.349)
|
| Stock # |
R6543 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
28856757-28909207 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 28857375 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 923
(T923A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110412
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114764]
|
| AlphaFold |
Q8R0C3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000114764
AA Change: T923A
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000110412
Gene: ENSMUSG00000036196
AA Change: T923A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sulfate_transp
|
90 |
491 |
1.2e-72 |
PFAM |
|
low complexity region
|
494 |
509 |
N/A |
INTRINSIC |
|
Pfam:STAS
|
542 |
792 |
7.3e-16 |
PFAM |
|
low complexity region
|
881 |
896 |
N/A |
INTRINSIC |
|
low complexity region
|
923 |
958 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.6%
|
| Validation Efficiency |
100% (41/41) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the SLC26 gene family of anion transporters. Family members are well conserved in gene structure and protein length yet have markedly different tissue expression patterns. The expression of this gene appears to be restricted to spermatocytes. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Jul 2010]
PHENOTYPE: Mice homozygous for a targeted allele exhibit male sterility associated with sperm immotility, abnormal flagella and reduced acrosomal reaction. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap4e1 |
T |
C |
2: 126,908,525 (GRCm39) |
V1091A |
probably benign |
Het |
| Arhgef11 |
A |
G |
3: 87,640,715 (GRCm39) |
N1320D |
probably benign |
Het |
| Atl3 |
T |
A |
19: 7,487,463 (GRCm39) |
F126Y |
probably damaging |
Het |
| Borcs5 |
C |
T |
6: 134,687,143 (GRCm39) |
T167M |
probably damaging |
Het |
| Cplane2 |
T |
G |
4: 140,944,599 (GRCm39) |
V50G |
probably benign |
Het |
| Creld2 |
A |
G |
15: 88,709,481 (GRCm39) |
T331A |
probably benign |
Het |
| Cuzd1 |
A |
G |
7: 130,911,497 (GRCm39) |
V494A |
probably damaging |
Het |
| Dclk1 |
C |
T |
3: 55,407,552 (GRCm39) |
P244S |
probably damaging |
Het |
| Esyt3 |
T |
C |
9: 99,220,825 (GRCm39) |
N126S |
possibly damaging |
Het |
| Focad |
T |
C |
4: 88,197,493 (GRCm39) |
S629P |
unknown |
Het |
| Grip1 |
T |
C |
10: 119,821,499 (GRCm39) |
L389P |
probably benign |
Het |
| Igkv4-91 |
A |
T |
6: 68,745,582 (GRCm39) |
D105E |
probably damaging |
Het |
| Il20ra |
G |
A |
10: 19,625,071 (GRCm39) |
A117T |
probably damaging |
Het |
| Il6ra |
A |
G |
3: 89,784,170 (GRCm39) |
V367A |
probably damaging |
Het |
| Itga8 |
C |
T |
2: 12,306,455 (GRCm39) |
V47M |
probably damaging |
Het |
| Limk2 |
T |
C |
11: 3,300,682 (GRCm39) |
Y220C |
probably damaging |
Het |
| Lims1 |
T |
A |
10: 58,248,273 (GRCm39) |
C243* |
probably null |
Het |
| Man1a |
C |
A |
10: 53,811,077 (GRCm39) |
G435* |
probably null |
Het |
| Msantd5f4 |
A |
G |
4: 73,557,215 (GRCm39) |
E16G |
probably damaging |
Het |
| Mtor |
T |
A |
4: 148,630,053 (GRCm39) |
I2250N |
probably damaging |
Het |
| N4bp1 |
G |
A |
8: 87,588,534 (GRCm39) |
Q135* |
probably null |
Het |
| Nbeal2 |
A |
T |
9: 110,473,526 (GRCm39) |
D76E |
probably benign |
Het |
| Nbn |
T |
C |
4: 15,986,605 (GRCm39) |
S669P |
probably benign |
Het |
| Nfrkb |
C |
T |
9: 31,312,281 (GRCm39) |
Q456* |
probably null |
Het |
| Or6c3b |
C |
A |
10: 129,527,859 (GRCm39) |
G17V |
probably benign |
Het |
| Pcnx3 |
C |
T |
19: 5,715,275 (GRCm39) |
A1557T |
probably benign |
Het |
| Pgd |
C |
T |
4: 149,245,209 (GRCm39) |
|
probably null |
Het |
| Prokr2 |
T |
A |
2: 132,215,819 (GRCm39) |
Q53L |
probably benign |
Het |
| Pxmp4 |
C |
A |
2: 154,429,979 (GRCm39) |
A137S |
possibly damaging |
Het |
| Rasef |
C |
T |
4: 73,698,756 (GRCm39) |
|
probably benign |
Het |
| Scpppq1 |
T |
C |
5: 104,222,741 (GRCm39) |
|
probably benign |
Het |
| Scrt2 |
C |
T |
2: 151,935,063 (GRCm39) |
A72V |
probably benign |
Het |
| Sipa1l2 |
T |
C |
8: 126,177,101 (GRCm39) |
E1171G |
possibly damaging |
Het |
| Slco1a6 |
T |
C |
6: 142,078,872 (GRCm39) |
K141R |
probably benign |
Het |
| Slfn5 |
T |
A |
11: 82,849,492 (GRCm39) |
|
probably null |
Het |
| Sympk |
A |
T |
7: 18,770,755 (GRCm39) |
H282L |
probably damaging |
Het |
| Tnr |
A |
G |
1: 159,751,677 (GRCm39) |
Y1324C |
probably damaging |
Het |
| Topaz1 |
A |
G |
9: 122,577,600 (GRCm39) |
N170S |
possibly damaging |
Het |
| Trav6-3 |
T |
C |
14: 53,666,219 (GRCm39) |
M1T |
probably null |
Het |
| Trim66 |
A |
G |
7: 109,075,086 (GRCm39) |
S392P |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,599,155 (GRCm39) |
T10958A |
probably damaging |
Het |
| Ubr7 |
A |
G |
12: 102,734,494 (GRCm39) |
K256R |
probably benign |
Het |
|
| Other mutations in Slc26a8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01466:Slc26a8
|
APN |
17 |
28,873,922 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02041:Slc26a8
|
APN |
17 |
28,861,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02389:Slc26a8
|
APN |
17 |
28,857,624 (GRCm39) |
missense |
probably benign |
0.00 |
|
E0370:Slc26a8
|
UTSW |
17 |
28,861,361 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
FR4449:Slc26a8
|
UTSW |
17 |
28,857,290 (GRCm39) |
small deletion |
probably benign |
|
|
R1028:Slc26a8
|
UTSW |
17 |
28,891,772 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1445:Slc26a8
|
UTSW |
17 |
28,867,187 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R1501:Slc26a8
|
UTSW |
17 |
28,857,536 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1606:Slc26a8
|
UTSW |
17 |
28,857,455 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1819:Slc26a8
|
UTSW |
17 |
28,903,808 (GRCm39) |
missense |
probably benign |
0.31 |
|
R1950:Slc26a8
|
UTSW |
17 |
28,863,614 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1973:Slc26a8
|
UTSW |
17 |
28,882,579 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2203:Slc26a8
|
UTSW |
17 |
28,866,981 (GRCm39) |
missense |
probably benign |
0.06 |
|
R3912:Slc26a8
|
UTSW |
17 |
28,863,753 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4176:Slc26a8
|
UTSW |
17 |
28,866,973 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4539:Slc26a8
|
UTSW |
17 |
28,878,591 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4661:Slc26a8
|
UTSW |
17 |
28,857,658 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4766:Slc26a8
|
UTSW |
17 |
28,857,635 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4850:Slc26a8
|
UTSW |
17 |
28,873,857 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4867:Slc26a8
|
UTSW |
17 |
28,882,608 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5521:Slc26a8
|
UTSW |
17 |
28,873,833 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5713:Slc26a8
|
UTSW |
17 |
28,880,853 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6092:Slc26a8
|
UTSW |
17 |
28,867,129 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6135:Slc26a8
|
UTSW |
17 |
28,888,914 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6372:Slc26a8
|
UTSW |
17 |
28,863,777 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6590:Slc26a8
|
UTSW |
17 |
28,863,629 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R6690:Slc26a8
|
UTSW |
17 |
28,863,629 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R6866:Slc26a8
|
UTSW |
17 |
28,857,455 (GRCm39) |
missense |
probably benign |
0.27 |
|
R7057:Slc26a8
|
UTSW |
17 |
28,857,371 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R7423:Slc26a8
|
UTSW |
17 |
28,867,177 (GRCm39) |
missense |
probably benign |
0.32 |
|
R7496:Slc26a8
|
UTSW |
17 |
28,863,824 (GRCm39) |
missense |
probably benign |
0.20 |
|
R8387:Slc26a8
|
UTSW |
17 |
28,866,899 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9422:Slc26a8
|
UTSW |
17 |
28,857,560 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R9455:Slc26a8
|
UTSW |
17 |
28,863,588 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF015:Slc26a8
|
UTSW |
17 |
28,857,315 (GRCm39) |
small deletion |
probably benign |
|
|
Z1177:Slc26a8
|
UTSW |
17 |
28,857,139 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGAGGTGGAGCTCTAGACTG -3'
(R):5'- ACCAAGAACCTGAAGCCTGG -3'
Sequencing Primer
(F):5'- CTCTAGACTGGGAGTTTGAAGAACC -3'
(R):5'- ACTTGGAGTTTGACCTGGAAC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation