Incidental Mutation 'R2434:Slc6a6'
| ID |
250522 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc6a6
|
| Ensembl Gene |
ENSMUSG00000030096 |
| Gene Name |
solute carrier family 6 (neurotransmitter transporter, taurine), member 6 |
| Synonyms |
Taut |
| MMRRC Submission |
040395-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2434 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
91661031-91736044 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 91712193 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 241
(S241T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032185
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032185]
|
| AlphaFold |
O35316 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032185
AA Change: S241T
PolyPhen 2
Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000032185
Gene: ENSMUSG00000030096
AA Change: S241T
| 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: ENSMUST00000205663
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205764
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agbl5 |
A |
G |
5: 31,051,357 (GRCm39) |
Q493R |
probably damaging |
Het |
| Ank3 |
T |
C |
10: 69,837,948 (GRCm39) |
V785A |
probably damaging |
Het |
| Capsl |
A |
T |
15: 9,462,795 (GRCm39) |
H145L |
probably damaging |
Het |
| Carns1 |
A |
C |
19: 4,215,448 (GRCm39) |
C911W |
probably damaging |
Het |
| Celsr2 |
A |
C |
3: 108,311,795 (GRCm39) |
F1351V |
probably damaging |
Het |
| Cpne8 |
T |
C |
15: 90,393,714 (GRCm39) |
I432V |
probably benign |
Het |
| Cpxm1 |
A |
T |
2: 130,236,004 (GRCm39) |
I386N |
probably damaging |
Het |
| E2f5 |
T |
A |
3: 14,644,074 (GRCm39) |
D65E |
probably damaging |
Het |
| Eif3a |
T |
C |
19: 60,752,488 (GRCm39) |
|
probably benign |
Het |
| Fcrl2 |
A |
G |
3: 87,164,005 (GRCm39) |
Y375H |
probably damaging |
Het |
| Fip1l1 |
C |
A |
5: 74,707,485 (GRCm39) |
T196K |
possibly damaging |
Het |
| Fmo6 |
A |
T |
1: 162,744,439 (GRCm39) |
N484K |
probably benign |
Het |
| Foxred1 |
G |
T |
9: 35,116,954 (GRCm39) |
D345E |
probably damaging |
Het |
| Gbe1 |
T |
A |
16: 70,238,100 (GRCm39) |
N295K |
probably damaging |
Het |
| Gipc2 |
T |
A |
3: 151,843,317 (GRCm39) |
I107L |
probably benign |
Het |
| Kcnn1 |
GTCCTCCTCCTCCTCCTCCTC |
GTCCTCCTCCTCCTCCTC |
8: 71,307,810 (GRCm39) |
|
probably benign |
Het |
| Lgr5 |
T |
A |
10: 115,423,311 (GRCm39) |
I30L |
probably benign |
Het |
| Nbea |
A |
T |
3: 55,554,881 (GRCm39) |
V2589E |
possibly damaging |
Het |
| Ncam2 |
A |
T |
16: 81,392,113 (GRCm39) |
N699I |
probably benign |
Het |
| Nlrp1b |
T |
C |
11: 71,047,552 (GRCm39) |
|
probably null |
Het |
| Or11l3 |
A |
G |
11: 58,515,937 (GRCm39) |
Y312H |
possibly damaging |
Het |
| Rnasel |
T |
C |
1: 153,630,396 (GRCm39) |
V304A |
probably damaging |
Het |
| Serinc4 |
C |
T |
2: 121,286,186 (GRCm39) |
R134H |
probably benign |
Het |
| Sim1 |
T |
A |
10: 50,784,054 (GRCm39) |
Y103N |
probably damaging |
Het |
| Slc47a1 |
A |
T |
11: 61,258,548 (GRCm39) |
|
probably null |
Het |
| Son |
G |
T |
16: 91,451,575 (GRCm39) |
K107N |
probably damaging |
Het |
| St3gal6 |
T |
C |
16: 58,291,015 (GRCm39) |
T329A |
probably damaging |
Het |
| Stab2 |
G |
A |
10: 86,805,183 (GRCm39) |
P265L |
possibly damaging |
Het |
| Tmem199 |
G |
A |
11: 78,400,570 (GRCm39) |
T119I |
probably damaging |
Het |
| Ttc14 |
A |
G |
3: 33,855,227 (GRCm39) |
D125G |
probably benign |
Het |
| Vmn1r205 |
T |
A |
13: 22,776,524 (GRCm39) |
M193L |
probably benign |
Het |
| Vmn2r-ps158 |
A |
G |
7: 42,696,881 (GRCm39) |
Y646C |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCCTGAGATCACCTATTAAGAATCC -3'
(R):5'- ATCAGTGAGTAGGGGACACC -3'
Sequencing Primer
(F):5'- ATTCATGATGTAGCCCAGGC -3'
(R):5'- GGACACCCAGGGACTTTAC -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation