Incidental Mutation 'IGL02301:Slc6a6'
| ID |
290286 |
| 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 # |
IGL02301
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
91661031-91736044 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 91703037 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 137
(Y137H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032185
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032185]
[ENSMUST00000205480]
[ENSMUST00000205828]
[ENSMUST00000206545]
|
| AlphaFold |
O35316 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032185
AA Change: Y137H
PolyPhen 2
Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000032185
Gene: ENSMUSG00000030096
AA Change: Y137H
| 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 |
unknown
Transcript: ENSMUST00000205663
AA Change: V21A
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap8l |
A |
G |
17: 32,551,900 (GRCm39) |
|
probably benign |
Het |
| Alk |
T |
C |
17: 72,181,171 (GRCm39) |
Q1373R |
probably damaging |
Het |
| Atf7ip2 |
T |
G |
16: 10,028,911 (GRCm39) |
S148A |
probably benign |
Het |
| Bpi |
C |
T |
2: 158,116,734 (GRCm39) |
S377F |
probably damaging |
Het |
| Ccni |
A |
T |
5: 93,336,034 (GRCm39) |
C122S |
possibly damaging |
Het |
| Cd5l |
A |
G |
3: 87,273,300 (GRCm39) |
R90G |
probably benign |
Het |
| Ceacam3 |
C |
T |
7: 16,897,026 (GRCm39) |
S664F |
probably damaging |
Het |
| Clca3a2 |
A |
T |
3: 144,512,133 (GRCm39) |
D534E |
probably damaging |
Het |
| Ep400 |
A |
T |
5: 110,822,826 (GRCm39) |
S2524R |
probably damaging |
Het |
| Fhdc1 |
G |
A |
3: 84,352,042 (GRCm39) |
A1061V |
possibly damaging |
Het |
| Gart |
A |
G |
16: 91,418,725 (GRCm39) |
|
probably benign |
Het |
| Gsdmc4 |
A |
G |
15: 63,767,113 (GRCm39) |
V219A |
probably benign |
Het |
| Hus1 |
T |
C |
11: 8,946,915 (GRCm39) |
T261A |
probably benign |
Het |
| Lman2l |
A |
G |
1: 36,482,624 (GRCm39) |
I84T |
probably damaging |
Het |
| Megf8 |
G |
A |
7: 25,037,325 (GRCm39) |
V742M |
probably damaging |
Het |
| Myo1d |
A |
G |
11: 80,567,679 (GRCm39) |
V267A |
probably benign |
Het |
| Notch2 |
A |
G |
3: 98,048,870 (GRCm39) |
T1803A |
probably benign |
Het |
| Or1e17 |
T |
A |
11: 73,831,894 (GRCm39) |
M274K |
possibly damaging |
Het |
| Or4f54 |
T |
A |
2: 111,123,042 (GRCm39) |
M143K |
probably benign |
Het |
| Or6c70 |
A |
G |
10: 129,709,948 (GRCm39) |
F226S |
probably damaging |
Het |
| Pate11 |
T |
C |
9: 36,388,483 (GRCm39) |
|
probably benign |
Het |
| Pde5a |
G |
A |
3: 122,554,534 (GRCm39) |
R208Q |
probably damaging |
Het |
| Pla2r1 |
T |
C |
2: 60,282,780 (GRCm39) |
N745S |
probably benign |
Het |
| Ptgdr2 |
T |
A |
19: 10,917,573 (GRCm39) |
I30N |
possibly damaging |
Het |
| Rap1gap2 |
G |
A |
11: 74,298,195 (GRCm39) |
T415I |
probably damaging |
Het |
| Sptbn1 |
A |
T |
11: 30,092,129 (GRCm39) |
D532E |
probably damaging |
Het |
| Stk39 |
T |
C |
2: 68,042,306 (GRCm39) |
D543G |
probably damaging |
Het |
| Trpc4 |
G |
A |
3: 54,198,653 (GRCm39) |
V526M |
probably damaging |
Het |
| Trrap |
A |
G |
5: 144,714,727 (GRCm39) |
I100V |
probably benign |
Het |
| Vmn1r-ps123 |
A |
C |
13: 23,180,527 (GRCm39) |
|
noncoding transcript |
Het |
| Vwa5b2 |
G |
A |
16: 20,423,540 (GRCm39) |
G1151D |
probably damaging |
Het |
| Zfp358 |
T |
A |
8: 3,546,858 (GRCm39) |
I480N |
probably benign |
Het |
| Zfp423 |
T |
C |
8: 88,508,202 (GRCm39) |
D714G |
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 |
|
IGL01896:Slc6a6
|
APN |
6 |
91,703,050 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02087:Slc6a6
|
APN |
6 |
91,712,160 (GRCm39) |
missense |
probably benign |
|
|
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 |
2015-04-16 |
Incidental Mutation