Incidental Mutation 'R8343:Slc6a6'
| ID |
645010 |
| 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 |
067866-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8343 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
91661031-91736044 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 91703224 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Stop codon
at position 199
(W199*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032185
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032185]
[ENSMUST00000205480]
[ENSMUST00000205828]
[ENSMUST00000206545]
|
| AlphaFold |
O35316 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000032185
AA Change: W199*
|
| SMART Domains |
Protein: ENSMUSP00000032185
Gene: ENSMUSG00000030096
AA Change: W199*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SNF
|
41 |
568 |
1.2e-241 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205480
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205663
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205828
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206545
|
| Meta Mutation Damage Score |
0.9756 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
97% (64/66) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars1 |
T |
A |
8: 111,767,361 (GRCm39) |
W156R |
probably damaging |
Het |
| Acvr1 |
T |
A |
2: 58,364,286 (GRCm39) |
|
probably null |
Het |
| Adamts2 |
G |
T |
11: 50,494,315 (GRCm39) |
V130L |
probably damaging |
Het |
| Adcy4 |
C |
T |
14: 56,012,697 (GRCm39) |
V541I |
probably benign |
Het |
| Adgrl2 |
C |
T |
3: 148,552,542 (GRCm39) |
V654I |
probably damaging |
Het |
| Ago3 |
T |
A |
4: 126,270,721 (GRCm39) |
K258* |
probably null |
Het |
| Akap11 |
A |
T |
14: 78,749,929 (GRCm39) |
S819R |
|
Het |
| Alox5ap |
T |
C |
5: 149,224,419 (GRCm39) |
F121L |
probably damaging |
Het |
| Baz2b |
A |
T |
2: 59,731,858 (GRCm39) |
M2060K |
probably damaging |
Het |
| Bltp3b |
T |
C |
10: 89,627,281 (GRCm39) |
S449P |
probably benign |
Het |
| C030005K15Rik |
T |
C |
10: 97,561,414 (GRCm39) |
I106V |
unknown |
Het |
| Carmil2 |
T |
A |
8: 106,417,716 (GRCm39) |
S604T |
probably benign |
Het |
| Ccdc121rt2 |
C |
T |
5: 112,598,653 (GRCm39) |
T400I |
probably benign |
Het |
| Cdhr1 |
T |
C |
14: 36,813,935 (GRCm39) |
T164A |
probably benign |
Het |
| Dhx30 |
T |
C |
9: 109,914,569 (GRCm39) |
E976G |
possibly damaging |
Het |
| Dnah17 |
C |
T |
11: 118,005,021 (GRCm39) |
G788R |
probably benign |
Het |
| Dus2 |
T |
C |
8: 106,722,645 (GRCm39) |
|
probably benign |
Het |
| Etv6 |
T |
C |
6: 134,225,717 (GRCm39) |
V316A |
possibly damaging |
Het |
| Fabp9 |
T |
G |
3: 10,259,085 (GRCm39) |
K107T |
possibly damaging |
Het |
| Fmn2 |
CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC |
CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC |
1: 174,436,769 (GRCm39) |
|
probably benign |
Het |
| Gapdh |
A |
G |
6: 125,140,226 (GRCm39) |
V92A |
probably benign |
Het |
| Gfy |
A |
G |
7: 44,826,019 (GRCm39) |
L453P |
probably damaging |
Het |
| Gp2 |
C |
T |
7: 119,042,010 (GRCm39) |
C505Y |
probably benign |
Het |
| Gtpbp8 |
T |
C |
16: 44,566,676 (GRCm39) |
R9G |
probably benign |
Het |
| Hipk4 |
G |
T |
7: 27,223,033 (GRCm39) |
R31L |
probably damaging |
Het |
| Htt |
T |
A |
5: 35,063,068 (GRCm39) |
M2900K |
probably damaging |
Het |
| Ighv1-20 |
T |
C |
12: 114,687,810 (GRCm39) |
I6V |
probably benign |
Het |
| Il17d |
C |
T |
14: 57,779,937 (GRCm39) |
T153I |
probably damaging |
Het |
| Izumo3 |
T |
A |
4: 92,034,581 (GRCm39) |
N117I |
probably damaging |
Het |
| Kcnh7 |
T |
C |
2: 62,680,879 (GRCm39) |
D236G |
probably benign |
Het |
| Kmt2d |
T |
C |
15: 98,750,478 (GRCm39) |
D2405G |
unknown |
Het |
| Map4k2 |
T |
C |
19: 6,396,596 (GRCm39) |
W533R |
probably damaging |
Het |
| Matn1 |
C |
A |
4: 130,673,300 (GRCm39) |
Y89* |
probably null |
Het |
| Mettl18 |
T |
A |
1: 163,824,509 (GRCm39) |
Y277N |
probably damaging |
Het |
| Muc5b |
G |
A |
7: 141,417,898 (GRCm39) |
G3615S |
probably benign |
Het |
| Mycbp2 |
A |
C |
14: 103,398,111 (GRCm39) |
|
probably null |
Het |
| Myh4 |
T |
A |
11: 67,143,390 (GRCm39) |
S1041T |
possibly damaging |
Het |
| Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
| Naaladl1 |
T |
C |
19: 6,159,703 (GRCm39) |
V378A |
possibly damaging |
Het |
| Nars1 |
T |
C |
18: 64,637,458 (GRCm39) |
D374G |
probably benign |
Het |
| Neb |
C |
T |
2: 52,198,283 (GRCm39) |
|
probably null |
Het |
| Neurl1b |
A |
G |
17: 26,650,965 (GRCm39) |
Y79C |
probably damaging |
Het |
| Nynrin |
A |
G |
14: 56,101,248 (GRCm39) |
T306A |
probably benign |
Het |
| Ola1 |
G |
T |
2: 73,029,745 (GRCm39) |
R125S |
probably damaging |
Het |
| Or12d15 |
T |
A |
17: 37,694,122 (GRCm39) |
F221L |
probably benign |
Het |
| Or51a43 |
A |
T |
7: 103,717,383 (GRCm39) |
V285D |
probably damaging |
Het |
| Pak1ip1 |
C |
A |
13: 41,158,214 (GRCm39) |
T29K |
probably benign |
Het |
| Podnl1 |
T |
A |
8: 84,857,402 (GRCm39) |
L337H |
|
Het |
| Rictor |
T |
G |
15: 6,807,800 (GRCm39) |
|
probably null |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Sel1l2 |
T |
C |
2: 140,072,753 (GRCm39) |
I627M |
probably benign |
Het |
| Sh3rf2 |
T |
C |
18: 42,244,493 (GRCm39) |
S352P |
probably damaging |
Het |
| Smc2 |
T |
A |
4: 52,450,965 (GRCm39) |
V261E |
probably benign |
Het |
| Sorcs3 |
G |
A |
19: 48,692,808 (GRCm39) |
|
probably null |
Het |
| Spdye4a |
T |
A |
5: 143,211,562 (GRCm39) |
M1L |
probably benign |
Het |
| Stag1 |
T |
C |
9: 100,639,819 (GRCm39) |
I125T |
possibly damaging |
Het |
| Stx8 |
T |
A |
11: 67,911,814 (GRCm39) |
D177E |
probably benign |
Het |
| Sun2 |
T |
C |
15: 79,623,125 (GRCm39) |
Y71C |
probably damaging |
Het |
| Tmed9 |
T |
C |
13: 55,742,617 (GRCm39) |
F129L |
probably benign |
Het |
| Tmem216 |
T |
A |
19: 10,529,336 (GRCm39) |
T17S |
probably benign |
Het |
| Tmpo |
A |
T |
10: 90,997,974 (GRCm39) |
N604K |
probably benign |
Het |
| Tmprss11f |
T |
A |
5: 86,681,666 (GRCm39) |
I196F |
probably benign |
Het |
| Tnks |
A |
G |
8: 35,301,738 (GRCm39) |
F1244L |
probably benign |
Het |
| Tspan2 |
T |
C |
3: 102,676,226 (GRCm39) |
C212R |
probably damaging |
Het |
| Tspan4 |
A |
G |
7: 141,071,718 (GRCm39) |
D155G |
probably damaging |
Het |
| Ttc6 |
T |
C |
12: 57,707,282 (GRCm39) |
F730L |
possibly damaging |
Het |
| Txnrd2 |
G |
A |
16: 18,245,291 (GRCm39) |
A33T |
unknown |
Het |
| Wnk1 |
C |
T |
6: 119,940,454 (GRCm39) |
R761H |
probably damaging |
Het |
| Zfp217 |
T |
C |
2: 169,962,024 (GRCm39) |
D101G |
probably damaging |
Het |
| Zfp281 |
T |
C |
1: 136,555,620 (GRCm39) |
F866S |
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 |
|
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 |
|
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'- TACATCGTCATCCTGGCCTG -3'
(R):5'- TTTGAGGCCACAAAAGAACTATCC -3'
Sequencing Primer
(F):5'- GCCTGGGCCACATACTAC -3'
(R):5'- CGTTTGGCGGTAAACTAGGATTCAAC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation