Incidental Mutation 'IGL01896:Slc6a6'
| ID |
179390 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc6a6
|
| Ensembl Gene |
ENSMUSG00000030096 |
| Gene Name |
solute carrier family 6 (neurotransmitter transporter, taurine), member 6 |
| Synonyms |
Taut |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01896
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
91661031-91736044 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 91703050 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 141
(I141T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032185
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032185]
[ENSMUST00000205480]
[ENSMUST00000205828]
[ENSMUST00000206545]
|
| AlphaFold |
O35316 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032185
AA Change: I141T
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000032185
Gene: ENSMUSG00000030096
AA Change: I141T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SNF
|
41 |
568 |
1.2e-241 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205443
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205480
|
| Predicted Effect |
silent
Transcript: ENSMUST00000205663
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205828
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206545
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206835
|
| 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 encodes a multi-pass membrane protein that is a member of a family of sodium and chloride-ion dependent transporters. The encoded protein transports taurine and beta-alanine. There is a pseudogene for this gene on chromosome 21. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]
PHENOTYPE: Homozygous mutant mice have impaired vision associated with retinal degeneration. In addition to the visual defects, mutant mice exhibit reduced female fertility and decreased levels of taurine in a variety of tissues. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9330159F19Rik |
T |
A |
10: 29,101,154 (GRCm39) |
F509Y |
possibly damaging |
Het |
| Acot11 |
T |
A |
4: 106,628,564 (GRCm39) |
I75F |
probably damaging |
Het |
| Atp1a2 |
T |
A |
1: 172,113,578 (GRCm39) |
N427Y |
probably damaging |
Het |
| Cd19 |
T |
C |
7: 126,013,522 (GRCm39) |
D89G |
possibly damaging |
Het |
| Clca3a1 |
T |
A |
3: 144,721,438 (GRCm39) |
T378S |
possibly damaging |
Het |
| Cltc |
A |
T |
11: 86,615,959 (GRCm39) |
C436S |
probably damaging |
Het |
| Def8 |
G |
A |
8: 124,186,634 (GRCm39) |
V429M |
probably benign |
Het |
| Dnah9 |
A |
T |
11: 66,021,492 (GRCm39) |
D311E |
possibly damaging |
Het |
| Dpy19l4 |
T |
C |
4: 11,267,752 (GRCm39) |
K396R |
possibly damaging |
Het |
| Eif4b |
T |
C |
15: 102,003,721 (GRCm39) |
S597P |
probably benign |
Het |
| Ezh1 |
A |
T |
11: 101,104,581 (GRCm39) |
N155K |
probably benign |
Het |
| Glud1 |
A |
G |
14: 34,041,862 (GRCm39) |
S157G |
probably benign |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Gm5600 |
T |
C |
7: 113,307,221 (GRCm39) |
|
noncoding transcript |
Het |
| Hnf4g |
T |
A |
3: 3,716,470 (GRCm39) |
V298E |
probably damaging |
Het |
| Hspd1 |
C |
T |
1: 55,118,268 (GRCm39) |
R446Q |
probably benign |
Het |
| Lyst |
A |
G |
13: 13,810,162 (GRCm39) |
I611V |
probably benign |
Het |
| Map4k3 |
T |
C |
17: 80,921,360 (GRCm39) |
E524G |
probably benign |
Het |
| Mepe |
A |
G |
5: 104,486,135 (GRCm39) |
D425G |
possibly damaging |
Het |
| Myo1a |
G |
T |
10: 127,555,773 (GRCm39) |
V921L |
probably benign |
Het |
| Plxdc1 |
A |
T |
11: 97,815,408 (GRCm39) |
M470K |
probably damaging |
Het |
| Prim1 |
A |
G |
10: 127,858,758 (GRCm39) |
Y222C |
probably damaging |
Het |
| Ptpn13 |
A |
G |
5: 103,649,389 (GRCm39) |
N264S |
possibly damaging |
Het |
| Qrsl1 |
T |
C |
10: 43,752,500 (GRCm39) |
D441G |
probably benign |
Het |
| Samd9l |
G |
T |
6: 3,375,120 (GRCm39) |
Q714K |
probably benign |
Het |
| Scrib |
T |
C |
15: 75,937,967 (GRCm39) |
E293G |
possibly damaging |
Het |
| Slc12a2 |
T |
A |
18: 58,029,380 (GRCm39) |
N255K |
probably benign |
Het |
| Slc9a1 |
T |
C |
4: 133,145,370 (GRCm39) |
L485P |
probably damaging |
Het |
| Slfn8 |
A |
T |
11: 82,894,522 (GRCm39) |
Y706N |
probably damaging |
Het |
| Tlr5 |
T |
C |
1: 182,802,444 (GRCm39) |
F583L |
possibly damaging |
Het |
| Tmprss15 |
A |
G |
16: 78,887,678 (GRCm39) |
V43A |
probably benign |
Het |
| Ttc24 |
T |
C |
3: 87,977,720 (GRCm39) |
|
probably null |
Het |
| Ttc7 |
A |
G |
17: 87,666,552 (GRCm39) |
T606A |
probably damaging |
Het |
| Ubap2 |
G |
T |
4: 41,202,362 (GRCm39) |
P689T |
possibly damaging |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Wfdc8 |
A |
T |
2: 164,447,700 (GRCm39) |
M120K |
probably damaging |
Het |
|
| Other mutations in Slc6a6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00800:Slc6a6
|
APN |
6 |
91,718,151 (GRCm39) |
intron |
probably benign |
|
|
IGL01829:Slc6a6
|
APN |
6 |
91,712,170 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02087:Slc6a6
|
APN |
6 |
91,712,160 (GRCm39) |
missense |
probably benign |
|
|
IGL02301:Slc6a6
|
APN |
6 |
91,703,037 (GRCm39) |
missense |
probably benign |
0.31 |
|
IGL02439:Slc6a6
|
APN |
6 |
91,726,808 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02555:Slc6a6
|
APN |
6 |
91,725,311 (GRCm39) |
unclassified |
probably benign |
|
|
animas
|
UTSW |
6 |
91,716,995 (GRCm39) |
splice site |
probably null |
|
|
customary
|
UTSW |
6 |
91,703,224 (GRCm39) |
nonsense |
probably null |
|
|
durango
|
UTSW |
6 |
91,700,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
habit
|
UTSW |
6 |
91,717,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5861_Slc6a6_905
|
UTSW |
6 |
91,718,014 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6665_Slc6a6_931
|
UTSW |
6 |
91,703,020 (GRCm39) |
missense |
probably benign |
0.38 |
|
R0530:Slc6a6
|
UTSW |
6 |
91,701,939 (GRCm39) |
missense |
probably null |
0.04 |
|
R1327:Slc6a6
|
UTSW |
6 |
91,703,016 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1503:Slc6a6
|
UTSW |
6 |
91,717,973 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1612:Slc6a6
|
UTSW |
6 |
91,718,008 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2033:Slc6a6
|
UTSW |
6 |
91,701,891 (GRCm39) |
missense |
probably benign |
0.12 |
|
R2146:Slc6a6
|
UTSW |
6 |
91,712,161 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2309:Slc6a6
|
UTSW |
6 |
91,703,177 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R2434:Slc6a6
|
UTSW |
6 |
91,712,193 (GRCm39) |
missense |
probably benign |
0.33 |
|
R2656:Slc6a6
|
UTSW |
6 |
91,718,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3402:Slc6a6
|
UTSW |
6 |
91,703,110 (GRCm39) |
missense |
probably benign |
|
|
R3403:Slc6a6
|
UTSW |
6 |
91,703,110 (GRCm39) |
missense |
probably benign |
|
|
R3978:Slc6a6
|
UTSW |
6 |
91,732,033 (GRCm39) |
missense |
probably benign |
0.41 |
|
R4236:Slc6a6
|
UTSW |
6 |
91,718,257 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4332:Slc6a6
|
UTSW |
6 |
91,700,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4980:Slc6a6
|
UTSW |
6 |
91,703,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5326:Slc6a6
|
UTSW |
6 |
91,712,170 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5358:Slc6a6
|
UTSW |
6 |
91,712,155 (GRCm39) |
missense |
probably benign |
0.28 |
|
R5542:Slc6a6
|
UTSW |
6 |
91,712,170 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5774:Slc6a6
|
UTSW |
6 |
91,721,981 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5839:Slc6a6
|
UTSW |
6 |
91,700,298 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5861:Slc6a6
|
UTSW |
6 |
91,718,014 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5939:Slc6a6
|
UTSW |
6 |
91,731,929 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6160:Slc6a6
|
UTSW |
6 |
91,716,995 (GRCm39) |
splice site |
probably null |
|
|
R6262:Slc6a6
|
UTSW |
6 |
91,732,013 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6265:Slc6a6
|
UTSW |
6 |
91,731,896 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6665:Slc6a6
|
UTSW |
6 |
91,703,020 (GRCm39) |
missense |
probably benign |
0.38 |
|
R6998:Slc6a6
|
UTSW |
6 |
91,729,419 (GRCm39) |
missense |
probably benign |
0.21 |
|
R7057:Slc6a6
|
UTSW |
6 |
91,718,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7568:Slc6a6
|
UTSW |
6 |
91,701,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7768:Slc6a6
|
UTSW |
6 |
91,716,946 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8042:Slc6a6
|
UTSW |
6 |
91,718,226 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8125:Slc6a6
|
UTSW |
6 |
91,703,087 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8194:Slc6a6
|
UTSW |
6 |
91,717,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8239:Slc6a6
|
UTSW |
6 |
91,701,951 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8343:Slc6a6
|
UTSW |
6 |
91,703,224 (GRCm39) |
nonsense |
probably null |
|
|
R8363:Slc6a6
|
UTSW |
6 |
91,727,277 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8836:Slc6a6
|
UTSW |
6 |
91,725,444 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9102:Slc6a6
|
UTSW |
6 |
91,731,940 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9257:Slc6a6
|
UTSW |
6 |
91,716,952 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R9511:Slc6a6
|
UTSW |
6 |
91,721,921 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9526:Slc6a6
|
UTSW |
6 |
91,726,808 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9701:Slc6a6
|
UTSW |
6 |
91,700,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0002:Slc6a6
|
UTSW |
6 |
91,700,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0063:Slc6a6
|
UTSW |
6 |
91,718,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-05-07 |
Incidental Mutation