Incidental Mutation 'R4980:Slc6a6'
| ID |
384742 |
| 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 |
042575-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4980 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
91661031-91736044 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 91703041 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 138
(Y138C)
|
| 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: Y138C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000032185
Gene: ENSMUSG00000030096
AA Change: Y138C
| 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 |
silent
Transcript: ENSMUST00000205663
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205828
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206545
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206835
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.8%
|
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930522L14Rik |
A |
T |
5: 109,885,292 (GRCm39) |
C189S |
probably damaging |
Het |
| Abcd3 |
A |
T |
3: 121,562,917 (GRCm39) |
|
probably null |
Het |
| Adar |
T |
C |
3: 89,638,121 (GRCm39) |
S2P |
probably benign |
Het |
| Amhr2 |
T |
A |
15: 102,362,765 (GRCm39) |
S511T |
probably benign |
Het |
| Atg16l1 |
T |
C |
1: 87,694,553 (GRCm39) |
S77P |
possibly damaging |
Het |
| Bltp1 |
T |
C |
3: 36,997,461 (GRCm39) |
S1173P |
probably damaging |
Het |
| Cacna1i |
T |
C |
15: 80,232,650 (GRCm39) |
F218L |
probably damaging |
Het |
| Cd5l |
A |
T |
3: 87,274,908 (GRCm39) |
H149L |
probably benign |
Het |
| Cdc14a |
T |
A |
3: 116,186,506 (GRCm39) |
R92* |
probably null |
Het |
| Col19a1 |
T |
C |
1: 24,565,564 (GRCm39) |
T256A |
unknown |
Het |
| Col22a1 |
C |
T |
15: 71,673,792 (GRCm39) |
A975T |
unknown |
Het |
| Cracd |
A |
T |
5: 77,005,421 (GRCm39) |
D594V |
unknown |
Het |
| Cyp20a1 |
T |
C |
1: 60,402,373 (GRCm39) |
W153R |
probably damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
| Dpyd |
T |
C |
3: 118,710,767 (GRCm39) |
S392P |
probably damaging |
Het |
| Dst |
A |
T |
1: 34,295,369 (GRCm39) |
L957F |
probably damaging |
Het |
| Emilin2 |
G |
T |
17: 71,560,066 (GRCm39) |
D970E |
possibly damaging |
Het |
| Fbn2 |
T |
C |
18: 58,143,703 (GRCm39) |
E2784G |
probably benign |
Het |
| Fbxw10 |
T |
C |
11: 62,738,583 (GRCm39) |
I159T |
possibly damaging |
Het |
| Fgfr2 |
T |
C |
7: 129,802,810 (GRCm39) |
Y192C |
probably damaging |
Het |
| Gm7298 |
A |
G |
6: 121,736,198 (GRCm39) |
|
probably null |
Het |
| Igf2r |
C |
T |
17: 12,922,247 (GRCm39) |
|
probably null |
Het |
| Ints4 |
T |
C |
7: 97,151,057 (GRCm39) |
|
probably null |
Het |
| Kcnf1 |
A |
G |
12: 17,225,012 (GRCm39) |
F403S |
possibly damaging |
Het |
| Kif11 |
C |
T |
19: 37,375,819 (GRCm39) |
Q211* |
probably null |
Het |
| Kif13a |
A |
G |
13: 46,906,222 (GRCm39) |
S574P |
possibly damaging |
Het |
| Kifc3 |
T |
A |
8: 95,853,177 (GRCm39) |
T60S |
probably benign |
Het |
| Krt82 |
T |
C |
15: 101,453,534 (GRCm39) |
D284G |
possibly damaging |
Het |
| Lancl1 |
T |
C |
1: 67,043,968 (GRCm39) |
Y344C |
probably benign |
Het |
| Ltbp3 |
A |
T |
19: 5,803,955 (GRCm39) |
|
probably null |
Het |
| Map3k4 |
A |
G |
17: 12,490,958 (GRCm39) |
F158L |
probably damaging |
Het |
| Mast2 |
A |
G |
4: 116,174,948 (GRCm39) |
Y469H |
probably damaging |
Het |
| Mcf2l |
T |
G |
8: 13,034,883 (GRCm39) |
F97C |
probably damaging |
Het |
| Mpeg1 |
T |
C |
19: 12,438,904 (GRCm39) |
S121P |
probably damaging |
Het |
| Mycbp2 |
A |
T |
14: 103,497,821 (GRCm39) |
|
probably null |
Het |
| Myt1l |
A |
T |
12: 29,877,038 (GRCm39) |
T230S |
unknown |
Het |
| Naa15 |
T |
C |
3: 51,366,173 (GRCm39) |
|
probably null |
Het |
| Nans |
G |
A |
4: 46,492,764 (GRCm39) |
R64Q |
probably benign |
Het |
| Nbea |
C |
T |
3: 55,554,772 (GRCm39) |
|
probably null |
Het |
| Nbea |
T |
C |
3: 55,860,466 (GRCm39) |
E1870G |
probably benign |
Het |
| Ncapd3 |
T |
C |
9: 26,974,591 (GRCm39) |
S688P |
probably damaging |
Het |
| Nedd4l |
G |
T |
18: 65,213,131 (GRCm39) |
E96* |
probably null |
Het |
| Or56a5 |
T |
A |
7: 104,793,431 (GRCm39) |
Y23F |
probably benign |
Het |
| Or5b21 |
A |
T |
19: 12,839,384 (GRCm39) |
M82L |
probably benign |
Het |
| Pdxk |
A |
G |
10: 78,287,318 (GRCm39) |
L81P |
probably damaging |
Het |
| Plec |
T |
A |
15: 76,077,495 (GRCm39) |
R269* |
probably null |
Het |
| Plec |
T |
C |
15: 76,090,065 (GRCm39) |
I92V |
probably damaging |
Het |
| Ppara |
T |
C |
15: 85,671,434 (GRCm39) |
Y112H |
probably damaging |
Het |
| Ppp2r2c |
A |
T |
5: 37,109,732 (GRCm39) |
M364L |
probably benign |
Het |
| Prag1 |
A |
C |
8: 36,606,740 (GRCm39) |
H827P |
probably damaging |
Het |
| Ptprg |
A |
G |
14: 12,154,421 (GRCm38) |
N714S |
probably benign |
Het |
| Rbp2 |
G |
A |
9: 98,380,894 (GRCm39) |
V67I |
probably benign |
Het |
| Rictor |
T |
A |
15: 6,811,141 (GRCm39) |
Y835N |
probably damaging |
Het |
| Ripply2 |
A |
G |
9: 86,901,747 (GRCm39) |
Q91R |
probably damaging |
Het |
| Sap130 |
C |
A |
18: 31,782,699 (GRCm39) |
H203Q |
possibly damaging |
Het |
| Sema4d |
T |
C |
13: 51,865,270 (GRCm39) |
Y358C |
probably damaging |
Het |
| Serbp1 |
G |
A |
6: 67,254,872 (GRCm39) |
D294N |
probably benign |
Het |
| Slc16a10 |
A |
G |
10: 39,956,801 (GRCm39) |
W113R |
probably damaging |
Het |
| Spag11a |
T |
C |
8: 19,207,962 (GRCm39) |
M1T |
probably null |
Het |
| Spata20 |
T |
C |
11: 94,375,435 (GRCm39) |
M120V |
probably damaging |
Het |
| Stk32a |
A |
C |
18: 43,447,113 (GRCm39) |
K357Q |
probably benign |
Het |
| Tasor |
T |
A |
14: 27,183,382 (GRCm39) |
L614I |
probably benign |
Het |
| Trmo |
A |
T |
4: 46,389,364 (GRCm39) |
C10* |
probably null |
Het |
| Tsc22d1 |
T |
G |
14: 76,655,696 (GRCm39) |
V643G |
probably benign |
Het |
| Vangl2 |
A |
T |
1: 171,837,132 (GRCm39) |
L226I |
probably damaging |
Het |
| Vps35l |
T |
A |
7: 118,406,232 (GRCm39) |
D605E |
probably damaging |
Het |
| Wnt3a |
A |
T |
11: 59,140,626 (GRCm39) |
C297S |
probably damaging |
Het |
| Wwc1 |
T |
C |
11: 35,778,930 (GRCm39) |
K301E |
possibly damaging |
Het |
| Zfhx4 |
C |
T |
3: 5,464,039 (GRCm39) |
T1399I |
possibly damaging |
Het |
| Zswim4 |
C |
T |
8: 84,953,296 (GRCm39) |
|
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 |
|
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'- AACCATTCAGCCACTTGTCC -3'
(R):5'- TACTCCCAGAACTCGATGACGG -3'
Sequencing Primer
(F):5'- AGCCACTTGTCCCTTTATCCAG -3'
(R):5'- CTCGATGACGGGTGAGGTGAAG -3'
|
| Posted On |
2016-05-10 |
Incidental Mutation