Incidental Mutation 'R5845:Slc26a6'
ID |
490469 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc26a6
|
Ensembl Gene |
ENSMUSG00000023259 |
Gene Name |
solute carrier family 26, member 6 |
Synonyms |
B930010B04Rik, CFEX, Pat1 |
MMRRC Submission |
044063-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.108)
|
Stock # |
R5845 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
108731239-108742117 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 108739282 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glycine
at position 609
(V609G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142250
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098376]
[ENSMUST00000188557]
[ENSMUST00000192507]
[ENSMUST00000192559]
[ENSMUST00000193291]
[ENSMUST00000193874]
|
AlphaFold |
Q8CIW6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000098376
AA Change: C662G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000095979 Gene: ENSMUSG00000023259 AA Change: C662G
Domain | Start | End | E-Value | Type |
Pfam:Sulfate_transp
|
69 |
458 |
4.4e-113 |
PFAM |
low complexity region
|
471 |
484 |
N/A |
INTRINSIC |
PDB:3LLO|A
|
489 |
546 |
2e-16 |
PDB |
low complexity region
|
554 |
593 |
N/A |
INTRINSIC |
low complexity region
|
638 |
650 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000188557
AA Change: V609G
PolyPhen 2
Score 0.459 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000140849 Gene: ENSMUSG00000023259 AA Change: V609G
Domain | Start | End | E-Value | Type |
Pfam:Sulfate_tra_GLY
|
54 |
137 |
4.1e-33 |
PFAM |
Pfam:Sulfate_transp
|
176 |
454 |
1.9e-67 |
PFAM |
low complexity region
|
471 |
484 |
N/A |
INTRINSIC |
PDB:3LLO|A
|
489 |
546 |
6e-16 |
PDB |
low complexity region
|
554 |
593 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000192507
AA Change: V609G
PolyPhen 2
Score 0.459 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000141336 Gene: ENSMUSG00000023259 AA Change: V609G
Domain | Start | End | E-Value | Type |
Pfam:Sulfate_tra_GLY
|
54 |
137 |
4.1e-33 |
PFAM |
Pfam:Sulfate_transp
|
176 |
454 |
1.9e-67 |
PFAM |
low complexity region
|
471 |
484 |
N/A |
INTRINSIC |
PDB:3LLO|A
|
489 |
546 |
6e-16 |
PDB |
low complexity region
|
554 |
593 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000192559
|
SMART Domains |
Protein: ENSMUSP00000141632 Gene: ENSMUSG00000023259
Domain | Start | End | E-Value | Type |
Pfam:Sulfate_tra_GLY
|
54 |
137 |
7.7e-34 |
PFAM |
Pfam:Sulfate_transp
|
176 |
225 |
1.8e-5 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000193291
AA Change: V609G
PolyPhen 2
Score 0.459 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000142250 Gene: ENSMUSG00000023259 AA Change: V609G
Domain | Start | End | E-Value | Type |
Pfam:Sulfate_tra_GLY
|
54 |
137 |
4.1e-33 |
PFAM |
Pfam:Sulfate_transp
|
176 |
454 |
1.9e-67 |
PFAM |
low complexity region
|
471 |
484 |
N/A |
INTRINSIC |
PDB:3LLO|A
|
489 |
546 |
6e-16 |
PDB |
low complexity region
|
554 |
593 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193463
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000193874
|
SMART Domains |
Protein: ENSMUSP00000141409 Gene: ENSMUSG00000023259
Domain | Start | End | E-Value | Type |
Pfam:Sulfate_tra_GLY
|
54 |
137 |
7.7e-34 |
PFAM |
Pfam:Sulfate_transp
|
176 |
225 |
1.8e-5 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195646
|
Meta Mutation Damage Score |
0.1362 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.1%
- 20x: 90.3%
|
Validation Efficiency |
97% (59/61) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the solute carrier 26 family, whose members encode anion transporter proteins. This particular family member encodes a protein involved in transporting chloride, oxalate, sulfate and bicarbonate. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Aug 2013] PHENOTYPE: Homozygous null mice display abnormal proximal tubule and duodenal anion exchange, but are otherwise normal. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acad10 |
A |
T |
5: 121,764,146 (GRCm39) |
Y928N |
probably benign |
Het |
Amz2 |
T |
C |
11: 109,324,755 (GRCm39) |
F213S |
probably damaging |
Het |
Cage1 |
T |
A |
13: 38,199,682 (GRCm39) |
S732C |
probably damaging |
Het |
Ccnf |
C |
A |
17: 24,459,767 (GRCm39) |
D229Y |
possibly damaging |
Het |
Cdon |
G |
T |
9: 35,368,762 (GRCm39) |
C332F |
probably damaging |
Het |
Clca3b |
G |
A |
3: 144,531,077 (GRCm39) |
R758C |
possibly damaging |
Het |
Cyp2ab1 |
C |
T |
16: 20,131,082 (GRCm39) |
R349H |
probably benign |
Het |
Dock10 |
C |
T |
1: 80,483,459 (GRCm39) |
|
probably benign |
Het |
Dock5 |
A |
T |
14: 68,078,550 (GRCm39) |
Y225N |
possibly damaging |
Het |
Ear2 |
G |
A |
14: 44,340,618 (GRCm39) |
R92K |
probably benign |
Het |
Eif3c |
T |
C |
7: 126,163,927 (GRCm39) |
S39G |
probably damaging |
Het |
Eml3 |
A |
G |
19: 8,916,582 (GRCm39) |
D701G |
probably damaging |
Het |
Fat3 |
G |
A |
9: 16,288,506 (GRCm39) |
T339I |
probably damaging |
Het |
Fbn2 |
T |
C |
18: 58,186,840 (GRCm39) |
D1687G |
possibly damaging |
Het |
Fcnb |
C |
T |
2: 27,969,633 (GRCm39) |
|
probably null |
Het |
Flacc1 |
T |
A |
1: 58,706,937 (GRCm39) |
E243D |
possibly damaging |
Het |
Fscb |
A |
G |
12: 64,519,558 (GRCm39) |
V636A |
unknown |
Het |
Gm6124 |
A |
G |
7: 38,869,299 (GRCm39) |
|
noncoding transcript |
Het |
Hectd4 |
T |
A |
5: 121,445,587 (GRCm39) |
|
probably null |
Het |
Hrnr |
A |
T |
3: 93,239,944 (GRCm39) |
H3394L |
unknown |
Het |
Hs1bp3 |
A |
G |
12: 8,386,275 (GRCm39) |
R226G |
probably benign |
Het |
Ifngr2 |
T |
C |
16: 91,351,947 (GRCm39) |
V61A |
probably benign |
Het |
Irag2 |
G |
A |
6: 145,117,392 (GRCm39) |
M376I |
probably benign |
Het |
Kcnk2 |
T |
C |
1: 189,009,918 (GRCm39) |
|
probably benign |
Het |
Kmt2d |
G |
A |
15: 98,749,990 (GRCm39) |
|
probably benign |
Het |
Mgam |
T |
A |
6: 40,652,257 (GRCm39) |
N810K |
possibly damaging |
Het |
Mis18a |
A |
G |
16: 90,518,522 (GRCm39) |
|
probably null |
Het |
Nsmce3 |
A |
G |
7: 64,521,936 (GRCm39) |
V244A |
possibly damaging |
Het |
Or10ag59 |
T |
C |
2: 87,406,367 (GRCm39) |
I313T |
probably benign |
Het |
Plxna4 |
A |
T |
6: 32,214,711 (GRCm39) |
V590D |
probably damaging |
Het |
Prkab1 |
A |
T |
5: 116,162,219 (GRCm39) |
D30E |
probably benign |
Het |
Rasgrp3 |
A |
T |
17: 75,810,142 (GRCm39) |
N281Y |
possibly damaging |
Het |
Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
Septin2 |
T |
A |
1: 93,426,757 (GRCm39) |
|
probably null |
Het |
Spta1 |
T |
A |
1: 174,068,662 (GRCm39) |
M2154K |
probably damaging |
Het |
Stoml2 |
T |
G |
4: 43,030,008 (GRCm39) |
|
probably benign |
Het |
Sult6b1 |
A |
C |
17: 79,202,059 (GRCm39) |
S148A |
probably damaging |
Het |
Tmem131l |
A |
G |
3: 83,847,860 (GRCm39) |
V335A |
probably damaging |
Het |
Tmem221 |
T |
A |
8: 72,007,788 (GRCm39) |
|
probably null |
Het |
Tmem88 |
C |
G |
11: 69,288,504 (GRCm39) |
Q138H |
probably benign |
Het |
Trpm8 |
T |
C |
1: 88,255,902 (GRCm39) |
Y186H |
probably benign |
Het |
Trpv1 |
T |
C |
11: 73,131,407 (GRCm39) |
I7T |
probably damaging |
Het |
Ttc34 |
T |
C |
4: 154,949,929 (GRCm39) |
S961P |
probably benign |
Het |
Ubr1 |
T |
C |
2: 120,734,486 (GRCm39) |
D1138G |
probably benign |
Het |
Ubr7 |
C |
T |
12: 102,732,571 (GRCm39) |
R188C |
probably damaging |
Het |
Uspl1 |
C |
T |
5: 149,130,770 (GRCm39) |
P118S |
probably benign |
Het |
Vdr |
C |
A |
15: 97,767,647 (GRCm39) |
E114D |
possibly damaging |
Het |
Zfp853 |
C |
T |
5: 143,274,424 (GRCm39) |
V399M |
unknown |
Het |
Zswim4 |
T |
A |
8: 84,943,871 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Slc26a6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00467:Slc26a6
|
APN |
9 |
108,733,088 (GRCm39) |
missense |
probably benign |
|
IGL02447:Slc26a6
|
APN |
9 |
108,734,251 (GRCm39) |
missense |
probably benign |
0.03 |
IGL03090:Slc26a6
|
APN |
9 |
108,737,890 (GRCm39) |
missense |
probably benign |
0.06 |
R0018:Slc26a6
|
UTSW |
9 |
108,736,121 (GRCm39) |
splice site |
probably null |
|
R0083:Slc26a6
|
UTSW |
9 |
108,736,312 (GRCm39) |
splice site |
probably null |
|
R0133:Slc26a6
|
UTSW |
9 |
108,738,522 (GRCm39) |
missense |
possibly damaging |
0.86 |
R0135:Slc26a6
|
UTSW |
9 |
108,737,794 (GRCm39) |
splice site |
probably benign |
|
R0563:Slc26a6
|
UTSW |
9 |
108,734,869 (GRCm39) |
missense |
probably damaging |
1.00 |
R0661:Slc26a6
|
UTSW |
9 |
108,736,312 (GRCm39) |
splice site |
probably null |
|
R1513:Slc26a6
|
UTSW |
9 |
108,733,035 (GRCm39) |
missense |
probably benign |
0.41 |
R1746:Slc26a6
|
UTSW |
9 |
108,738,916 (GRCm39) |
missense |
probably benign |
0.00 |
R2079:Slc26a6
|
UTSW |
9 |
108,736,257 (GRCm39) |
missense |
probably damaging |
0.97 |
R2939:Slc26a6
|
UTSW |
9 |
108,734,236 (GRCm39) |
missense |
probably benign |
0.05 |
R2940:Slc26a6
|
UTSW |
9 |
108,734,236 (GRCm39) |
missense |
probably benign |
0.05 |
R3833:Slc26a6
|
UTSW |
9 |
108,733,117 (GRCm39) |
missense |
possibly damaging |
0.86 |
R3861:Slc26a6
|
UTSW |
9 |
108,731,395 (GRCm39) |
unclassified |
probably benign |
|
R4175:Slc26a6
|
UTSW |
9 |
108,731,416 (GRCm39) |
unclassified |
probably benign |
|
R4358:Slc26a6
|
UTSW |
9 |
108,738,982 (GRCm39) |
missense |
probably benign |
0.00 |
R4403:Slc26a6
|
UTSW |
9 |
108,733,137 (GRCm39) |
missense |
probably benign |
|
R4598:Slc26a6
|
UTSW |
9 |
108,733,579 (GRCm39) |
missense |
probably damaging |
1.00 |
R4660:Slc26a6
|
UTSW |
9 |
108,738,540 (GRCm39) |
missense |
probably damaging |
0.96 |
R4663:Slc26a6
|
UTSW |
9 |
108,735,106 (GRCm39) |
missense |
probably damaging |
0.98 |
R5296:Slc26a6
|
UTSW |
9 |
108,737,845 (GRCm39) |
missense |
probably damaging |
1.00 |
R5390:Slc26a6
|
UTSW |
9 |
108,738,499 (GRCm39) |
splice site |
probably benign |
|
R5533:Slc26a6
|
UTSW |
9 |
108,735,155 (GRCm39) |
missense |
probably damaging |
1.00 |
R5662:Slc26a6
|
UTSW |
9 |
108,736,538 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6547:Slc26a6
|
UTSW |
9 |
108,737,981 (GRCm39) |
splice site |
probably null |
|
R7079:Slc26a6
|
UTSW |
9 |
108,735,147 (GRCm39) |
missense |
probably damaging |
1.00 |
R7652:Slc26a6
|
UTSW |
9 |
108,733,143 (GRCm39) |
critical splice donor site |
probably null |
|
R8289:Slc26a6
|
UTSW |
9 |
108,733,230 (GRCm39) |
missense |
probably benign |
0.00 |
R8290:Slc26a6
|
UTSW |
9 |
108,733,230 (GRCm39) |
missense |
probably benign |
0.00 |
R9533:Slc26a6
|
UTSW |
9 |
108,735,481 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Predicted Primers |
|
Posted On |
2017-10-20 |