Incidental Mutation 'R6262:Slc6a6'
| ID |
506753 |
| 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 |
045016-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6262 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
91661031-91736044 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 91732013 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 614
(H614L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032185
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032185]
|
| AlphaFold |
O35316 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000032185
AA Change: H614L
PolyPhen 2
Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000032185
Gene: ENSMUSG00000030096
AA Change: H614L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SNF
|
41 |
568 |
1.2e-241 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205477
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206988
|
| Meta Mutation Damage Score |
0.2447 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.2%
|
| Validation Efficiency |
97% (58/60) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
G |
A |
4: 53,092,917 (GRCm39) |
T289I |
probably benign |
Het |
| Abca2 |
T |
C |
2: 25,334,922 (GRCm39) |
Y1965H |
possibly damaging |
Het |
| Adam26a |
T |
C |
8: 44,022,125 (GRCm39) |
N455S |
possibly damaging |
Het |
| Art5 |
C |
T |
7: 101,747,338 (GRCm39) |
G147D |
probably benign |
Het |
| Atp5f1a |
G |
A |
18: 77,868,912 (GRCm39) |
V429M |
probably damaging |
Het |
| Calr4 |
A |
T |
4: 109,108,564 (GRCm39) |
N213I |
probably damaging |
Het |
| Cchcr1 |
T |
C |
17: 35,841,413 (GRCm39) |
S810P |
probably benign |
Het |
| Cdh4 |
A |
T |
2: 179,439,419 (GRCm39) |
R189W |
probably damaging |
Het |
| Cdk5rap1 |
T |
C |
2: 154,212,606 (GRCm39) |
D84G |
probably benign |
Het |
| Clasp2 |
T |
A |
9: 113,705,420 (GRCm39) |
|
probably null |
Het |
| Cntnap2 |
T |
A |
6: 45,037,046 (GRCm39) |
|
probably null |
Het |
| Cntnap4 |
T |
C |
8: 113,529,843 (GRCm39) |
Y684H |
probably damaging |
Het |
| Cyp2a4 |
T |
A |
7: 26,011,655 (GRCm39) |
V292E |
probably damaging |
Het |
| Dap |
A |
G |
15: 31,235,960 (GRCm39) |
T10A |
probably benign |
Het |
| Dnah11 |
G |
A |
12: 117,894,913 (GRCm39) |
R3645C |
probably damaging |
Het |
| Dnah9 |
A |
T |
11: 65,772,631 (GRCm39) |
|
probably null |
Het |
| Efcab3 |
T |
A |
11: 104,784,579 (GRCm39) |
M2787K |
probably benign |
Het |
| Efr3a |
T |
C |
15: 65,729,323 (GRCm39) |
S675P |
possibly damaging |
Het |
| Gria1 |
A |
G |
11: 57,133,680 (GRCm39) |
K451E |
probably damaging |
Het |
| Grin3b |
A |
T |
10: 79,810,203 (GRCm39) |
M570L |
probably benign |
Het |
| Hs2st1 |
A |
G |
3: 144,140,374 (GRCm39) |
F316L |
probably damaging |
Het |
| Hs6st3 |
A |
G |
14: 119,376,403 (GRCm39) |
T193A |
possibly damaging |
Het |
| Hspg2 |
A |
T |
4: 137,246,997 (GRCm39) |
D1108V |
probably damaging |
Het |
| Igf1r |
T |
A |
7: 67,653,720 (GRCm39) |
L86Q |
probably damaging |
Het |
| Inpp5j |
A |
G |
11: 3,452,615 (GRCm39) |
S212P |
probably benign |
Het |
| Junb |
A |
G |
8: 85,704,359 (GRCm39) |
S234P |
possibly damaging |
Het |
| Lhx3 |
GTGTTGT |
GTGT |
2: 26,092,435 (GRCm39) |
|
probably benign |
Het |
| Macf1 |
A |
G |
4: 123,366,983 (GRCm39) |
S1028P |
possibly damaging |
Het |
| Met |
C |
A |
6: 17,553,403 (GRCm39) |
A1063E |
probably benign |
Het |
| Mink1 |
T |
C |
11: 70,494,151 (GRCm39) |
|
probably null |
Het |
| Mtor |
A |
G |
4: 148,610,552 (GRCm39) |
E1621G |
possibly damaging |
Het |
| Mug2 |
T |
C |
6: 122,052,214 (GRCm39) |
Y991H |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,198,699 (GRCm39) |
D414G |
probably damaging |
Het |
| Nkx6-3 |
T |
C |
8: 23,643,863 (GRCm39) |
V88A |
probably benign |
Het |
| Nr3c2 |
A |
G |
8: 77,635,262 (GRCm39) |
Q121R |
possibly damaging |
Het |
| Nup155 |
T |
C |
15: 8,186,225 (GRCm39) |
V1329A |
probably benign |
Het |
| Or2d36 |
T |
C |
7: 106,746,918 (GRCm39) |
Y132H |
probably damaging |
Het |
| Or5d35 |
T |
C |
2: 87,855,738 (GRCm39) |
V224A |
probably benign |
Het |
| Pcdhb17 |
T |
A |
18: 37,619,751 (GRCm39) |
F514I |
probably damaging |
Het |
| Pfkl |
A |
G |
10: 77,824,507 (GRCm39) |
|
probably null |
Het |
| Prl8a1 |
A |
T |
13: 27,758,126 (GRCm39) |
H194Q |
possibly damaging |
Het |
| Sh3tc1 |
C |
G |
5: 35,857,117 (GRCm39) |
E1241Q |
probably damaging |
Het |
| Sort1 |
A |
G |
3: 108,217,527 (GRCm39) |
Y143C |
probably damaging |
Het |
| Stat4 |
T |
A |
1: 52,141,360 (GRCm39) |
W569R |
probably null |
Het |
| Taco1 |
A |
T |
11: 105,962,693 (GRCm39) |
K127* |
probably null |
Het |
| Tas2r110 |
T |
C |
6: 132,845,638 (GRCm39) |
I223T |
probably damaging |
Het |
| Tex21 |
A |
G |
12: 76,259,306 (GRCm39) |
I329T |
probably damaging |
Het |
| Tmprss11b |
T |
C |
5: 86,810,119 (GRCm39) |
H287R |
probably benign |
Het |
| Trim30a |
A |
G |
7: 104,060,741 (GRCm39) |
L345P |
probably benign |
Het |
| Vmn1r62 |
G |
A |
7: 5,678,556 (GRCm39) |
C79Y |
probably damaging |
Het |
| Vmn2r116 |
A |
G |
17: 23,606,351 (GRCm39) |
K421R |
probably benign |
Het |
| Vwde |
C |
T |
6: 13,205,020 (GRCm39) |
S287N |
probably damaging |
Het |
| Xrcc4 |
A |
T |
13: 89,926,906 (GRCm39) |
M300K |
probably benign |
Het |
| Zan |
A |
T |
5: 137,427,747 (GRCm39) |
|
probably null |
Het |
| Zbtb7c |
A |
G |
18: 76,270,413 (GRCm39) |
D167G |
probably benign |
Het |
| Zfc3h1 |
A |
G |
10: 115,249,881 (GRCm39) |
Y1165C |
probably damaging |
Het |
| Zfp326 |
T |
A |
5: 106,036,353 (GRCm39) |
L88Q |
probably damaging |
Het |
| Zfp667 |
A |
G |
7: 6,307,973 (GRCm39) |
T214A |
probably benign |
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 |
|
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 |
|
|
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'- AGATGCCTGGGATGTTCTAGAG -3'
(R):5'- ACGTAGGCCTATGGGTTTTC -3'
Sequencing Primer
(F):5'- CCTGGGATGTTCTAGAGGTGGG -3'
(R):5'- CTCTGTAAACCTGGTCCTAT -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation