Incidental Mutation 'R5839:Slc6a6'
| ID |
449799 |
| 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 |
044059-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5839 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
91661031-91736044 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 91700298 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 9
(C9S)
|
| 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: C9S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000032185
Gene: ENSMUSG00000030096
AA Change: C9S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SNF
|
41 |
568 |
1.2e-241 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205443
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000205480
AA Change: C9S
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205663
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000205828
AA Change: C9S
PolyPhen 2
Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000206545
AA Change: C9S
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206835
|
| Meta Mutation Damage Score |
0.1382 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.1%
|
| Validation Efficiency |
94% (62/66) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam22 |
T |
A |
5: 8,186,861 (GRCm39) |
Y420F |
probably damaging |
Het |
| Adcy8 |
A |
G |
15: 64,588,031 (GRCm39) |
Y919H |
probably damaging |
Het |
| Afg2a |
A |
G |
3: 37,518,803 (GRCm39) |
D779G |
probably damaging |
Het |
| Ampd1 |
A |
T |
3: 102,992,744 (GRCm39) |
N162I |
possibly damaging |
Het |
| Arhgef15 |
G |
A |
11: 68,844,982 (GRCm39) |
A205V |
probably benign |
Het |
| Ash1l |
A |
G |
3: 88,890,658 (GRCm39) |
K846E |
probably damaging |
Het |
| Azi2 |
C |
T |
9: 117,888,187 (GRCm39) |
T250I |
probably damaging |
Het |
| Btbd16 |
G |
A |
7: 130,417,538 (GRCm39) |
|
probably null |
Het |
| Ceacam16 |
T |
A |
7: 19,590,008 (GRCm39) |
K52* |
probably null |
Het |
| Cfap74 |
T |
C |
4: 155,507,207 (GRCm39) |
|
probably null |
Het |
| Cgn |
A |
C |
3: 94,681,703 (GRCm39) |
L464R |
probably damaging |
Het |
| Chpt1 |
T |
A |
10: 88,339,625 (GRCm39) |
H32L |
probably damaging |
Het |
| Clk1 |
G |
A |
1: 58,461,074 (GRCm39) |
T7I |
probably benign |
Het |
| Col6a5 |
C |
T |
9: 105,822,592 (GRCm39) |
|
probably null |
Het |
| Cpne4 |
C |
A |
9: 104,803,027 (GRCm39) |
R224S |
probably damaging |
Het |
| Cysltr2 |
T |
C |
14: 73,267,623 (GRCm39) |
Y29C |
probably damaging |
Het |
| Ddx5 |
A |
G |
11: 106,673,032 (GRCm39) |
S498P |
probably damaging |
Het |
| Dgkg |
A |
G |
16: 22,385,244 (GRCm39) |
Y382H |
possibly damaging |
Het |
| Efemp1 |
A |
G |
11: 28,871,418 (GRCm39) |
E339G |
possibly damaging |
Het |
| Focad |
T |
A |
4: 88,115,083 (GRCm39) |
|
probably benign |
Het |
| Gabbr1 |
G |
A |
17: 37,378,760 (GRCm39) |
G650D |
probably damaging |
Het |
| Galnt9 |
A |
G |
5: 110,725,386 (GRCm39) |
S108G |
probably benign |
Het |
| Igkv8-28 |
T |
A |
6: 70,121,145 (GRCm39) |
M1L |
probably benign |
Het |
| Iqca1l |
T |
C |
5: 24,757,024 (GRCm39) |
K218E |
probably damaging |
Het |
| Kcnq2 |
T |
C |
2: 180,751,544 (GRCm39) |
Y284C |
probably damaging |
Het |
| Macf1 |
A |
G |
4: 123,275,117 (GRCm39) |
F6299S |
probably damaging |
Het |
| Magi3 |
G |
A |
3: 104,127,047 (GRCm39) |
T79M |
probably damaging |
Het |
| Mdh2 |
T |
A |
5: 135,812,146 (GRCm39) |
|
probably null |
Het |
| Mgam |
A |
C |
6: 40,716,998 (GRCm39) |
N108T |
possibly damaging |
Het |
| N4bp3 |
A |
T |
11: 51,536,909 (GRCm39) |
F55I |
probably benign |
Het |
| Nasp |
C |
T |
4: 116,459,288 (GRCm39) |
|
probably null |
Het |
| Ncapg |
T |
A |
5: 45,829,620 (GRCm39) |
H107Q |
probably damaging |
Het |
| Ofcc1 |
T |
C |
13: 40,434,021 (GRCm39) |
K28R |
probably damaging |
Het |
| Opn1sw |
C |
T |
6: 29,379,829 (GRCm39) |
C135Y |
probably damaging |
Het |
| Pigo |
T |
C |
4: 43,022,104 (GRCm39) |
M346V |
probably damaging |
Het |
| Pkn2 |
A |
T |
3: 142,527,290 (GRCm39) |
D386E |
probably benign |
Het |
| Psd2 |
G |
T |
18: 36,140,577 (GRCm39) |
V617L |
probably damaging |
Het |
| Rab39 |
C |
T |
9: 53,617,387 (GRCm39) |
R10H |
probably damaging |
Het |
| Slc8a2 |
A |
T |
7: 15,868,412 (GRCm39) |
I215F |
probably damaging |
Het |
| Slitrk5 |
T |
C |
14: 111,917,030 (GRCm39) |
V218A |
probably benign |
Het |
| Smchd1 |
A |
T |
17: 71,701,857 (GRCm39) |
V1045E |
probably damaging |
Het |
| Smoc1 |
T |
C |
12: 81,214,359 (GRCm39) |
I247T |
probably damaging |
Het |
| Snapc4 |
G |
C |
2: 26,255,546 (GRCm39) |
Q993E |
probably benign |
Het |
| Spidr |
A |
T |
16: 15,855,366 (GRCm39) |
I383N |
probably damaging |
Het |
| Stab2 |
A |
G |
10: 86,708,555 (GRCm39) |
V219A |
probably damaging |
Het |
| Tas2r103 |
T |
C |
6: 133,013,779 (GRCm39) |
T96A |
probably benign |
Het |
| Tcaf3 |
T |
C |
6: 42,570,783 (GRCm39) |
E323G |
possibly damaging |
Het |
| Tecta |
T |
C |
9: 42,284,272 (GRCm39) |
T938A |
possibly damaging |
Het |
| Tecta |
C |
T |
9: 42,242,319 (GRCm39) |
D2085N |
probably benign |
Het |
| Tekt2 |
T |
A |
4: 126,216,629 (GRCm39) |
E328V |
probably damaging |
Het |
| Tgfb1i1 |
A |
G |
7: 127,852,537 (GRCm39) |
*462W |
probably null |
Het |
| Tnip2 |
T |
C |
5: 34,653,976 (GRCm39) |
|
probably benign |
Het |
| Tpd52l2 |
G |
A |
2: 181,141,691 (GRCm39) |
V25I |
probably benign |
Het |
| Traj15 |
T |
A |
14: 54,441,926 (GRCm39) |
|
probably benign |
Het |
| Trpm8 |
A |
T |
1: 88,253,228 (GRCm39) |
I106F |
possibly damaging |
Het |
| Ttc22 |
T |
C |
4: 106,495,717 (GRCm39) |
L357P |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,739,772 (GRCm39) |
H3589R |
probably benign |
Het |
| Vmn1r28 |
T |
A |
6: 58,242,280 (GRCm39) |
I41N |
possibly damaging |
Het |
| Wasf1 |
T |
A |
10: 40,812,315 (GRCm39) |
V368E |
unknown |
Het |
| Zeb1 |
A |
G |
18: 5,767,507 (GRCm39) |
M673V |
probably benign |
Het |
| Zfp799 |
T |
C |
17: 33,041,086 (GRCm39) |
D31G |
probably null |
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 |
|
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'- AAATCCTTGGGATCTAGCTGGC -3'
(R):5'- GGCTTCAATATGACCCAGCC -3'
Sequencing Primer
(F):5'- ATCTAGCTGGCTTCTTTGATGGAGAC -3'
(R):5'- CCACCATTTTTGTAGCAGAGGTACG -3'
|
| Posted On |
2016-12-20 |
Incidental Mutation