Incidental Mutation 'IGL01082:Slc26a1'
| ID |
51061 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc26a1
|
| Ensembl Gene |
ENSMUSG00000046959 |
| Gene Name |
solute carrier family 26 (sulfate transporter), member 1 |
| Synonyms |
Sat1 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.435)
|
| Stock # |
IGL01082
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
108817744-108823435 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 108819744 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Asparagine
at position 485
(T485N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131282
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051757]
[ENSMUST00000071650]
[ENSMUST00000112563]
[ENSMUST00000119212]
[ENSMUST00000119270]
[ENSMUST00000132708]
[ENSMUST00000136227]
[ENSMUST00000163328]
[ENSMUST00000139734]
[ENSMUST00000140620]
|
| AlphaFold |
P58735 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000051757
AA Change: T485N
PolyPhen 2
Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000051561
Gene: ENSMUSG00000046959
AA Change: T485N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sulfate_tra_GLY
|
54 |
137 |
4.9e-31 |
PFAM |
|
Pfam:Sulfate_transp
|
200 |
478 |
3.1e-84 |
PFAM |
|
Pfam:STAS
|
536 |
686 |
9.5e-29 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000071650
|
| SMART Domains |
Protein: ENSMUSP00000071577
Gene: ENSMUSG00000033540
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_hydro_39
|
22 |
542 |
1.4e-223 |
PFAM |
|
SCOP:d1bpv__
|
546 |
643 |
3e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112563
|
| SMART Domains |
Protein: ENSMUSP00000108182
Gene: ENSMUSG00000033540
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_hydro_39
|
22 |
542 |
2.1e-224 |
PFAM |
|
SCOP:d1bpv__
|
546 |
643 |
3e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119212
|
| SMART Domains |
Protein: ENSMUSP00000113190
Gene: ENSMUSG00000033540
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:Glyco_hydro_39
|
48 |
495 |
2.4e-193 |
PFAM |
|
SCOP:d1bpv__
|
499 |
596 |
3e-8 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000119270
AA Change: T501N
PolyPhen 2
Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000113185
Gene: ENSMUSG00000046959
AA Change: T501N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sulfate_transp
|
85 |
498 |
7.3e-135 |
PFAM |
|
Pfam:STAS
|
552 |
702 |
1.1e-28 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132708
|
| SMART Domains |
Protein: ENSMUSP00000122837
Gene: ENSMUSG00000004815
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:C1
|
26 |
56 |
2e-13 |
BLAST |
|
low complexity region
|
68 |
81 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136227
|
| SMART Domains |
Protein: ENSMUSP00000116540
Gene: ENSMUSG00000046959
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sulfate_tra_GLY
|
54 |
137 |
3.4e-31 |
PFAM |
|
Pfam:Sulfate_transp
|
200 |
416 |
2.2e-62 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000163328
AA Change: T485N
PolyPhen 2
Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000131282
Gene: ENSMUSG00000046959
AA Change: T485N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sulfate_tra_GLY
|
54 |
137 |
4.9e-31 |
PFAM |
|
Pfam:Sulfate_transp
|
200 |
478 |
3.1e-84 |
PFAM |
|
Pfam:STAS
|
536 |
686 |
9.5e-29 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151445
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159464
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139734
|
| SMART Domains |
Protein: ENSMUSP00000117694
Gene: ENSMUSG00000033540
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_hydro_39
|
22 |
199 |
6.8e-80 |
PFAM |
|
low complexity region
|
235 |
260 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140620
|
| SMART Domains |
Protein: ENSMUSP00000119624
Gene: ENSMUSG00000033540
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_hydro_39
|
22 |
150 |
3.4e-52 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of a family of sulfate/anion transporter genes. Family members are well conserved in their genomic (number and size of exons) and protein (aa length among species) structures, but have markedly different tissue expression patterns. This gene is primarily expressed in the liver, pancreas, and brain. Three splice variants that encode different isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene develop kidney stones and have an increased susceptibility to acetaminophen-induced liver damage. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
G |
A |
1: 71,353,273 (GRCm39) |
S723F |
probably damaging |
Het |
| Cacng5 |
C |
T |
11: 107,772,531 (GRCm39) |
V106I |
probably benign |
Het |
| Ccdc116 |
A |
G |
16: 16,959,856 (GRCm39) |
S278P |
probably damaging |
Het |
| Cep152 |
A |
T |
2: 125,411,465 (GRCm39) |
|
probably benign |
Het |
| Cftr |
T |
C |
6: 18,226,102 (GRCm39) |
V350A |
probably damaging |
Het |
| Dsc2 |
A |
T |
18: 20,176,849 (GRCm39) |
N399K |
probably damaging |
Het |
| Eif3d |
T |
C |
15: 77,843,943 (GRCm39) |
T468A |
probably damaging |
Het |
| Fam110b |
C |
T |
4: 5,799,461 (GRCm39) |
A293V |
possibly damaging |
Het |
| Flrt1 |
T |
C |
19: 7,073,339 (GRCm39) |
T403A |
probably benign |
Het |
| H3c6 |
A |
G |
13: 23,746,548 (GRCm39) |
|
probably benign |
Het |
| Ift140 |
T |
A |
17: 25,267,429 (GRCm39) |
V609E |
possibly damaging |
Het |
| Klb |
G |
A |
5: 65,533,283 (GRCm39) |
V531I |
possibly damaging |
Het |
| Krt73 |
T |
C |
15: 101,707,372 (GRCm39) |
|
probably null |
Het |
| Mcm2 |
A |
G |
6: 88,864,859 (GRCm39) |
V539A |
probably benign |
Het |
| Myb |
A |
G |
10: 21,028,843 (GRCm39) |
V85A |
probably damaging |
Het |
| Ndufs1 |
T |
C |
1: 63,203,976 (GRCm39) |
E102G |
probably damaging |
Het |
| Nr5a2 |
C |
A |
1: 136,773,206 (GRCm39) |
A499S |
probably benign |
Het |
| Opa1 |
A |
T |
16: 29,436,933 (GRCm39) |
|
probably benign |
Het |
| Or14j5 |
T |
A |
17: 38,161,514 (GRCm39) |
S10R |
probably benign |
Het |
| Or4a47 |
A |
T |
2: 89,674,407 (GRCm39) |
|
probably benign |
Het |
| Or4c11b |
T |
C |
2: 88,625,637 (GRCm39) |
F304L |
probably benign |
Het |
| Pcnx1 |
G |
A |
12: 82,037,372 (GRCm39) |
E1877K |
possibly damaging |
Het |
| Sel1l |
A |
G |
12: 91,778,682 (GRCm39) |
V711A |
probably benign |
Het |
| Slc22a16 |
A |
G |
10: 40,449,860 (GRCm39) |
T120A |
probably benign |
Het |
| Sp100 |
T |
C |
1: 85,597,741 (GRCm39) |
V201A |
possibly damaging |
Het |
| Spz1 |
T |
G |
13: 92,712,029 (GRCm39) |
K149T |
probably damaging |
Het |
| Stxbp5l |
A |
G |
16: 37,024,940 (GRCm39) |
S553P |
possibly damaging |
Het |
| Szt2 |
A |
G |
4: 118,254,821 (GRCm39) |
S290P |
probably damaging |
Het |
| Tbc1d10c |
A |
G |
19: 4,239,026 (GRCm39) |
Y165H |
probably damaging |
Het |
| Tnxb |
C |
A |
17: 34,933,584 (GRCm39) |
Q2335K |
probably damaging |
Het |
| Trim33 |
T |
C |
3: 103,234,175 (GRCm39) |
I471T |
possibly damaging |
Het |
| Vsig10 |
A |
G |
5: 117,472,970 (GRCm39) |
I188V |
probably benign |
Het |
| Zfp109 |
A |
T |
7: 23,933,784 (GRCm39) |
L45Q |
probably damaging |
Het |
|
| Other mutations in Slc26a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02566:Slc26a1
|
APN |
5 |
108,821,665 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03347:Slc26a1
|
APN |
5 |
108,821,676 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0744:Slc26a1
|
UTSW |
5 |
108,821,389 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0833:Slc26a1
|
UTSW |
5 |
108,821,389 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1518:Slc26a1
|
UTSW |
5 |
108,819,740 (GRCm39) |
nonsense |
probably null |
|
|
R1726:Slc26a1
|
UTSW |
5 |
108,821,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1766:Slc26a1
|
UTSW |
5 |
108,819,658 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1975:Slc26a1
|
UTSW |
5 |
108,820,338 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3953:Slc26a1
|
UTSW |
5 |
108,821,448 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R3954:Slc26a1
|
UTSW |
5 |
108,821,448 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R3955:Slc26a1
|
UTSW |
5 |
108,821,448 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R3969:Slc26a1
|
UTSW |
5 |
108,821,818 (GRCm39) |
missense |
probably benign |
|
|
R4259:Slc26a1
|
UTSW |
5 |
108,820,496 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5875:Slc26a1
|
UTSW |
5 |
108,819,903 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6036:Slc26a1
|
UTSW |
5 |
108,821,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6036:Slc26a1
|
UTSW |
5 |
108,821,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6057:Slc26a1
|
UTSW |
5 |
108,821,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6088:Slc26a1
|
UTSW |
5 |
108,821,872 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R6766:Slc26a1
|
UTSW |
5 |
108,819,773 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7230:Slc26a1
|
UTSW |
5 |
108,819,611 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7294:Slc26a1
|
UTSW |
5 |
108,821,698 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7580:Slc26a1
|
UTSW |
5 |
108,819,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8396:Slc26a1
|
UTSW |
5 |
108,821,715 (GRCm39) |
missense |
probably benign |
|
|
R8833:Slc26a1
|
UTSW |
5 |
108,820,182 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9556:Slc26a1
|
UTSW |
5 |
108,820,404 (GRCm39) |
missense |
|
|
|
R9569:Slc26a1
|
UTSW |
5 |
108,819,460 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Slc26a1
|
UTSW |
5 |
108,820,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-06-21 |
Incidental Mutation