Incidental Mutation 'R2033:Slc6a6'
| ID |
221478 |
| 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 |
040040-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2033 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
91661031-91736044 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 91701891 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 100
(I100F)
|
| 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: I100F
PolyPhen 2
Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000032185
Gene: ENSMUSG00000030096
AA Change: I100F
| 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
AA Change: I100F
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205663
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205828
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206545
AA Change: I100F
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206835
|
| Meta Mutation Damage Score |
0.3023 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.5%
|
| Validation Efficiency |
96% (53/55) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl3 |
T |
C |
4: 144,182,953 (GRCm39) |
T172A |
probably benign |
Het |
| Atp6v1c1 |
T |
C |
15: 38,674,210 (GRCm39) |
|
probably null |
Het |
| Bpifc |
G |
A |
10: 85,836,496 (GRCm39) |
T3I |
possibly damaging |
Het |
| Car12 |
A |
G |
9: 66,624,840 (GRCm39) |
|
probably null |
Het |
| Ccrl2 |
A |
G |
9: 110,884,938 (GRCm39) |
F187L |
possibly damaging |
Het |
| Cep250 |
G |
A |
2: 155,812,812 (GRCm39) |
R544H |
probably damaging |
Het |
| Col4a3 |
T |
G |
1: 82,695,732 (GRCm39) |
|
probably benign |
Het |
| Cyb5r2 |
T |
C |
7: 107,356,114 (GRCm39) |
|
probably null |
Het |
| Elfn2 |
A |
G |
15: 78,556,096 (GRCm39) |
V817A |
probably damaging |
Het |
| Eln |
C |
T |
5: 134,738,960 (GRCm39) |
|
probably null |
Het |
| Eml5 |
T |
C |
12: 98,757,645 (GRCm39) |
E1896G |
possibly damaging |
Het |
| G530012D18Rik |
CACAGA |
CA |
1: 85,504,875 (GRCm39) |
|
probably null |
Het |
| Galnt11 |
C |
T |
5: 25,452,536 (GRCm39) |
T16I |
probably damaging |
Het |
| Gars1 |
C |
T |
6: 55,054,708 (GRCm39) |
H672Y |
probably benign |
Het |
| Gpr155 |
T |
A |
2: 73,178,526 (GRCm39) |
H726L |
probably benign |
Het |
| Inpp1 |
T |
A |
1: 52,829,332 (GRCm39) |
N229I |
possibly damaging |
Het |
| Isg20 |
A |
C |
7: 78,566,281 (GRCm39) |
I77L |
probably damaging |
Het |
| Kit |
G |
C |
5: 75,797,977 (GRCm39) |
D422H |
possibly damaging |
Het |
| Lonp2 |
A |
G |
8: 87,435,570 (GRCm39) |
E602G |
possibly damaging |
Het |
| Mink1 |
T |
C |
11: 70,503,334 (GRCm39) |
V1143A |
probably damaging |
Het |
| Myh6 |
A |
C |
14: 55,201,102 (GRCm39) |
L120R |
probably benign |
Het |
| Myo18a |
T |
A |
11: 77,733,925 (GRCm39) |
|
probably null |
Het |
| Nphs2 |
T |
C |
1: 156,151,308 (GRCm39) |
V249A |
probably damaging |
Het |
| Npsr1 |
A |
G |
9: 24,224,648 (GRCm39) |
K342E |
probably benign |
Het |
| Nrros |
C |
T |
16: 31,962,975 (GRCm39) |
W311* |
probably null |
Het |
| Nudt18 |
G |
T |
14: 70,817,056 (GRCm39) |
G162V |
possibly damaging |
Het |
| Odam |
A |
G |
5: 88,040,278 (GRCm39) |
D248G |
probably benign |
Het |
| Or1e30 |
T |
C |
11: 73,678,264 (GRCm39) |
S167P |
probably benign |
Het |
| Or4c119 |
A |
G |
2: 88,987,498 (GRCm39) |
V7A |
probably damaging |
Het |
| Or51d1 |
A |
G |
7: 102,348,369 (GRCm39) |
E308G |
probably benign |
Het |
| Or51h5 |
T |
C |
7: 102,577,615 (GRCm39) |
V260A |
probably benign |
Het |
| Or8b3 |
G |
T |
9: 38,314,669 (GRCm39) |
M166I |
probably damaging |
Het |
| Pde4b |
G |
T |
4: 102,462,492 (GRCm39) |
D723Y |
probably benign |
Het |
| Pdzrn3 |
T |
C |
6: 101,127,915 (GRCm39) |
E917G |
probably damaging |
Het |
| Ppip5k1 |
C |
T |
2: 121,168,108 (GRCm39) |
R715H |
probably damaging |
Het |
| Prkdc |
T |
A |
16: 15,505,216 (GRCm39) |
|
probably benign |
Het |
| Ptp4a3 |
A |
G |
15: 73,625,618 (GRCm39) |
Y21C |
probably damaging |
Het |
| Ptprk |
C |
A |
10: 28,468,763 (GRCm39) |
|
probably benign |
Het |
| Rfesd |
C |
A |
13: 76,150,991 (GRCm39) |
|
probably null |
Het |
| Rtel1 |
A |
T |
2: 180,993,656 (GRCm39) |
K592* |
probably null |
Het |
| Siah1a |
T |
A |
8: 87,451,898 (GRCm39) |
K195N |
probably damaging |
Het |
| Slc5a5 |
G |
T |
8: 71,341,231 (GRCm39) |
D369E |
probably damaging |
Het |
| Smtn |
T |
C |
11: 3,467,781 (GRCm39) |
I913V |
probably benign |
Het |
| Stk17b |
A |
G |
1: 53,800,235 (GRCm39) |
S248P |
probably damaging |
Het |
| Sun1 |
C |
T |
5: 139,211,193 (GRCm39) |
H149Y |
probably damaging |
Het |
| Taar5 |
T |
C |
10: 23,846,992 (GRCm39) |
I130T |
possibly damaging |
Het |
| Tmem132b |
G |
T |
5: 125,826,353 (GRCm39) |
V448F |
probably damaging |
Het |
| Tmem94 |
C |
A |
11: 115,685,154 (GRCm39) |
N888K |
possibly damaging |
Het |
| Trpc1 |
T |
C |
9: 95,588,896 (GRCm39) |
N742S |
probably damaging |
Het |
| Ttbk2 |
T |
C |
2: 120,637,330 (GRCm39) |
T112A |
probably damaging |
Het |
| Tubb2a |
A |
T |
13: 34,259,439 (GRCm39) |
L117Q |
probably damaging |
Het |
| Vmn1r60 |
T |
A |
7: 5,547,819 (GRCm39) |
M94L |
probably benign |
Het |
| Vmn2r83 |
A |
G |
10: 79,327,653 (GRCm39) |
T754A |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGAGGATCTTCAGCAGAGTC -3'
(R):5'- CCCTGGATCTGGCACTGATATAG -3'
Sequencing Primer
(F):5'- ATCTTCAGCAGAGTCCGAGTTTG -3'
(R):5'- TCTGGCACTGATATAGGCAAGGTC -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation