Incidental Mutation 'R6088:Slc26a1'
ID |
486089 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc26a1
|
Ensembl Gene |
ENSMUSG00000046959 |
Gene Name |
solute carrier family 26 (sulfate transporter), member 1 |
Synonyms |
Sat1 |
MMRRC Submission |
044245-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.435)
|
Stock # |
R6088 (G1)
|
Quality Score |
174.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
108817744-108823435 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 108821872 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Lysine
at position 6
(E6K)
|
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: E6K
PolyPhen 2
Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000051561 Gene: ENSMUSG00000046959 AA Change: E6K
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 |
probably benign
Transcript: ENSMUST00000119270
AA Change: E22K
PolyPhen 2
Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000113185 Gene: ENSMUSG00000046959 AA Change: E22K
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 |
possibly damaging
Transcript: ENSMUST00000136227
AA Change: E6K
PolyPhen 2
Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000116540 Gene: ENSMUSG00000046959 AA Change: E6K
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: E6K
PolyPhen 2
Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000131282 Gene: ENSMUSG00000046959 AA Change: E6K
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: ENSMUST00000159464
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151445
|
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 |
|
Meta Mutation Damage Score |
0.0865 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.7%
- 20x: 92.9%
|
Validation Efficiency |
98% (59/60) |
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts19 |
G |
T |
18: 59,035,174 (GRCm39) |
V360F |
probably damaging |
Het |
Ankrd17 |
C |
T |
5: 90,401,547 (GRCm39) |
E1605K |
possibly damaging |
Het |
Arid4a |
A |
G |
12: 71,069,010 (GRCm39) |
D54G |
probably damaging |
Het |
Baz2a |
TCTCCTC |
TCTC |
10: 127,950,511 (GRCm39) |
|
probably benign |
Het |
Bltp3a |
G |
A |
17: 28,103,579 (GRCm39) |
|
probably null |
Het |
Card6 |
A |
T |
15: 5,134,501 (GRCm39) |
V234E |
possibly damaging |
Het |
Cd1d1 |
G |
T |
3: 86,906,009 (GRCm39) |
Q89K |
probably benign |
Het |
Ciita |
G |
A |
16: 10,329,795 (GRCm39) |
R693K |
probably damaging |
Het |
Cox7a2l |
G |
T |
17: 83,811,401 (GRCm39) |
L77I |
probably benign |
Het |
Crybg2 |
A |
T |
4: 133,803,101 (GRCm39) |
|
probably null |
Het |
Cts8 |
T |
C |
13: 61,401,780 (GRCm39) |
N39S |
probably benign |
Het |
Def8 |
G |
T |
8: 124,186,787 (GRCm39) |
E456* |
probably null |
Het |
Dld |
A |
G |
12: 31,390,988 (GRCm39) |
F153L |
probably benign |
Het |
Elf1 |
C |
T |
14: 79,804,701 (GRCm39) |
T122I |
probably benign |
Het |
Emilin2 |
T |
C |
17: 71,562,119 (GRCm39) |
N961S |
probably benign |
Het |
Esp24 |
A |
G |
17: 39,350,901 (GRCm39) |
I34V |
probably benign |
Het |
Fam184b |
C |
A |
5: 45,741,354 (GRCm39) |
K292N |
probably damaging |
Het |
Gabrg3 |
T |
A |
7: 56,634,826 (GRCm39) |
N119I |
probably damaging |
Het |
Gucy1b1 |
T |
C |
3: 81,942,187 (GRCm39) |
H524R |
probably damaging |
Het |
Kcp |
A |
T |
6: 29,502,631 (GRCm39) |
S205T |
probably benign |
Het |
Klb |
C |
T |
5: 65,506,356 (GRCm39) |
T201M |
probably benign |
Het |
Lamp3 |
A |
T |
16: 19,492,148 (GRCm39) |
F365L |
probably damaging |
Het |
Mad1l1 |
T |
A |
5: 140,179,718 (GRCm39) |
H390L |
probably benign |
Het |
Mlxipl |
T |
C |
5: 135,162,884 (GRCm39) |
Y711H |
possibly damaging |
Het |
Myo5b |
T |
A |
18: 74,853,969 (GRCm39) |
L1196Q |
possibly damaging |
Het |
Ndufb8 |
A |
G |
19: 44,543,464 (GRCm39) |
S70P |
probably benign |
Het |
Neb |
T |
C |
2: 52,099,354 (GRCm39) |
D4832G |
probably damaging |
Het |
Niban2 |
T |
C |
2: 32,813,135 (GRCm39) |
V540A |
probably damaging |
Het |
Nr5a1 |
T |
C |
2: 38,592,007 (GRCm39) |
D322G |
probably benign |
Het |
Or1e1d-ps1 |
A |
T |
11: 73,819,649 (GRCm39) |
T273S |
probably benign |
Het |
Or5ak20 |
T |
A |
2: 85,183,698 (GRCm39) |
S191C |
probably damaging |
Het |
Oscar |
G |
A |
7: 3,614,311 (GRCm39) |
P143S |
probably benign |
Het |
Oxa1l |
T |
A |
14: 54,605,151 (GRCm39) |
|
probably null |
Het |
Pafah2 |
A |
G |
4: 134,140,692 (GRCm39) |
I221V |
probably benign |
Het |
Pibf1 |
T |
A |
14: 99,416,794 (GRCm39) |
F456I |
probably benign |
Het |
Pla2g4d |
C |
T |
2: 120,100,487 (GRCm39) |
G615D |
probably damaging |
Het |
Plekhg2 |
C |
T |
7: 28,060,438 (GRCm39) |
V964I |
probably benign |
Het |
Ppip5k1 |
C |
A |
2: 121,167,944 (GRCm39) |
V770L |
probably benign |
Het |
Ppl |
A |
T |
16: 4,922,852 (GRCm39) |
L213Q |
possibly damaging |
Het |
Ptprf |
G |
A |
4: 118,067,952 (GRCm39) |
T1785I |
possibly damaging |
Het |
Pycr2 |
G |
A |
1: 180,733,801 (GRCm39) |
G131E |
probably damaging |
Het |
Rbpj |
C |
T |
5: 53,808,710 (GRCm39) |
|
probably null |
Het |
Rcc1 |
G |
T |
4: 132,060,153 (GRCm39) |
D430E |
probably benign |
Het |
Rhbdf1 |
A |
G |
11: 32,162,007 (GRCm39) |
V525A |
possibly damaging |
Het |
Samd7 |
G |
A |
3: 30,810,632 (GRCm39) |
M216I |
probably benign |
Het |
Ska3 |
A |
T |
14: 58,054,151 (GRCm39) |
D266E |
probably benign |
Het |
Slc1a7 |
G |
A |
4: 107,869,641 (GRCm39) |
V569M |
probably damaging |
Het |
Slc4a4 |
T |
A |
5: 89,345,563 (GRCm39) |
V741E |
probably benign |
Het |
St6galnac3 |
C |
T |
3: 152,912,352 (GRCm39) |
G164S |
probably damaging |
Het |
Tgs1 |
T |
A |
4: 3,595,383 (GRCm39) |
N517K |
probably benign |
Het |
Tns4 |
A |
G |
11: 98,964,546 (GRCm39) |
S522P |
probably damaging |
Het |
Trpm1 |
A |
T |
7: 63,917,724 (GRCm39) |
M355L |
probably damaging |
Het |
Trpm8 |
G |
A |
1: 88,234,400 (GRCm39) |
|
probably benign |
Het |
V1ra8 |
T |
C |
6: 90,180,082 (GRCm39) |
F95S |
probably damaging |
Het |
Zfp521 |
A |
C |
18: 13,979,166 (GRCm39) |
S416A |
possibly damaging |
Het |
Zfp574 |
T |
A |
7: 24,779,764 (GRCm39) |
V262E |
probably benign |
Het |
Zfp740 |
T |
A |
15: 102,117,243 (GRCm39) |
I77N |
probably damaging |
Het |
Zscan18 |
A |
T |
7: 12,509,125 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Slc26a1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01082:Slc26a1
|
APN |
5 |
108,819,744 (GRCm39) |
missense |
possibly damaging |
0.75 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GCCAATGACCAATCCTGACATG -3'
(R):5'- AAGTACAACCTCACGTCAGTAGG -3'
Sequencing Primer
(F):5'- TGACATGACATCACCTGCTAGG -3'
(R):5'- TCAGTAGGACAGGCTCTGATATC -3'
|
Posted On |
2017-08-16 |