Incidental Mutation 'R3978:Slc6a6'
ID |
311119 |
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 |
040941-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3978 (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 91732033 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Leucine
at position 621
(M621L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000032185
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032185]
|
AlphaFold |
O35316 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000032185
AA Change: M621L
PolyPhen 2
Score 0.411 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000032185 Gene: ENSMUSG00000030096 AA Change: M621L
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 |
0.0903 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
Validation Efficiency |
100% (65/65) |
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930579F01Rik |
T |
C |
3: 137,889,435 (GRCm39) |
T61A |
probably benign |
Het |
Adam28 |
A |
G |
14: 68,848,443 (GRCm39) |
V671A |
probably benign |
Het |
Ankhd1 |
A |
T |
18: 36,780,666 (GRCm39) |
H1906L |
probably damaging |
Het |
Ano5 |
G |
A |
7: 51,237,554 (GRCm39) |
V743I |
probably benign |
Het |
Arfgef1 |
A |
G |
1: 10,279,859 (GRCm39) |
V236A |
probably benign |
Het |
Arid2 |
A |
G |
15: 96,261,503 (GRCm39) |
D453G |
probably damaging |
Het |
Atp2b1 |
C |
A |
10: 98,832,795 (GRCm39) |
|
probably null |
Het |
Azin1 |
A |
T |
15: 38,498,957 (GRCm39) |
N135K |
probably damaging |
Het |
B020004C17Rik |
G |
T |
14: 57,254,645 (GRCm39) |
M156I |
possibly damaging |
Het |
Cfap54 |
T |
C |
10: 92,798,274 (GRCm39) |
T1662A |
probably benign |
Het |
Cog8 |
T |
A |
8: 107,779,669 (GRCm39) |
I203F |
probably damaging |
Het |
Col6a6 |
T |
C |
9: 105,576,078 (GRCm39) |
H2094R |
probably damaging |
Het |
Cybb |
T |
C |
X: 9,310,827 (GRCm39) |
Y425C |
probably damaging |
Het |
Dab2 |
A |
G |
15: 6,464,644 (GRCm39) |
|
probably null |
Het |
Dpyd |
AAAT |
AAATGTATATAAAT |
3: 118,690,737 (GRCm39) |
|
probably benign |
Het |
Dpyd |
AAT |
AATGTATATATAT |
3: 118,690,738 (GRCm39) |
|
probably benign |
Het |
Eif3i |
T |
C |
4: 129,486,129 (GRCm39) |
E276G |
probably damaging |
Het |
Fam171a1 |
A |
C |
2: 3,226,072 (GRCm39) |
M402L |
probably benign |
Het |
Fga |
A |
T |
3: 82,937,490 (GRCm39) |
|
probably null |
Het |
Foxp2 |
A |
G |
6: 15,197,207 (GRCm39) |
|
probably benign |
Het |
Gbp2 |
C |
T |
3: 142,335,747 (GRCm39) |
T149I |
possibly damaging |
Het |
Gm9631 |
A |
G |
11: 121,834,394 (GRCm39) |
Y281H |
possibly damaging |
Het |
Gpr21 |
C |
T |
2: 37,407,862 (GRCm39) |
T136I |
probably benign |
Het |
Gprc5b |
C |
T |
7: 118,583,354 (GRCm39) |
V172M |
probably damaging |
Het |
Gprc6a |
C |
A |
10: 51,497,197 (GRCm39) |
V449L |
probably benign |
Het |
Hdlbp |
T |
C |
1: 93,349,073 (GRCm39) |
I535V |
probably damaging |
Het |
Helb |
A |
G |
10: 119,925,530 (GRCm39) |
V949A |
probably benign |
Het |
Hoxc13 |
T |
C |
15: 102,829,675 (GRCm39) |
V18A |
possibly damaging |
Het |
Hr |
A |
G |
14: 70,801,024 (GRCm39) |
T699A |
probably benign |
Het |
Il27ra |
G |
A |
8: 84,767,313 (GRCm39) |
T170I |
probably benign |
Het |
Insm2 |
T |
C |
12: 55,647,623 (GRCm39) |
Y456H |
probably benign |
Het |
Katna1 |
T |
C |
10: 7,628,518 (GRCm39) |
M249T |
probably damaging |
Het |
Lin9 |
T |
A |
1: 180,496,357 (GRCm39) |
I298N |
possibly damaging |
Het |
Lyst |
G |
A |
13: 13,808,753 (GRCm39) |
R141Q |
possibly damaging |
Het |
Nos3 |
T |
A |
5: 24,582,929 (GRCm39) |
D685E |
probably damaging |
Het |
Oasl1 |
C |
T |
5: 115,070,957 (GRCm39) |
T274I |
probably damaging |
Het |
Or5p61 |
A |
G |
7: 107,758,819 (GRCm39) |
M87T |
possibly damaging |
Het |
Pdgfrb |
A |
T |
18: 61,206,757 (GRCm39) |
H661L |
probably damaging |
Het |
Ppfia2 |
A |
G |
10: 106,666,490 (GRCm39) |
T399A |
possibly damaging |
Het |
Ppp1ca |
T |
C |
19: 4,242,253 (GRCm39) |
I13T |
probably benign |
Het |
Psmd1 |
T |
C |
1: 86,055,909 (GRCm39) |
M757T |
probably benign |
Het |
Rdh19 |
A |
T |
10: 127,685,944 (GRCm39) |
R19W |
possibly damaging |
Het |
Rfx7 |
A |
G |
9: 72,522,393 (GRCm39) |
T296A |
possibly damaging |
Het |
Rgl2 |
G |
A |
17: 34,154,136 (GRCm39) |
R472H |
probably benign |
Het |
Rhcg |
T |
C |
7: 79,267,147 (GRCm39) |
E43G |
probably benign |
Het |
Rif1 |
T |
A |
2: 52,006,759 (GRCm39) |
|
probably null |
Het |
Rorb |
A |
G |
19: 18,915,254 (GRCm39) |
V468A |
probably benign |
Het |
Rxrb |
C |
T |
17: 34,255,300 (GRCm39) |
P209L |
possibly damaging |
Het |
Sbf2 |
G |
T |
7: 109,929,092 (GRCm39) |
T1438K |
probably benign |
Het |
Setd3 |
A |
T |
12: 108,124,201 (GRCm39) |
C163S |
possibly damaging |
Het |
Slc15a1 |
C |
T |
14: 121,727,239 (GRCm39) |
D110N |
probably benign |
Het |
Slc26a3 |
T |
A |
12: 31,515,859 (GRCm39) |
|
probably null |
Het |
Slc5a5 |
A |
G |
8: 71,342,039 (GRCm39) |
V305A |
probably benign |
Het |
Smgc |
A |
T |
15: 91,744,546 (GRCm39) |
D301V |
probably damaging |
Het |
Spata31d1c |
A |
G |
13: 65,182,974 (GRCm39) |
D172G |
possibly damaging |
Het |
Syt15 |
T |
A |
14: 33,945,061 (GRCm39) |
C203S |
probably benign |
Het |
Tdrd1 |
A |
G |
19: 56,855,066 (GRCm39) |
R1171G |
probably benign |
Het |
Trp63 |
A |
G |
16: 25,639,490 (GRCm39) |
|
probably benign |
Het |
Tspan9 |
A |
G |
6: 127,944,210 (GRCm39) |
V30A |
probably damaging |
Het |
Ubp1 |
A |
T |
9: 113,785,773 (GRCm39) |
|
probably null |
Het |
Vmn2r68 |
T |
A |
7: 84,881,670 (GRCm39) |
Y470F |
probably benign |
Het |
Wbp1l |
T |
A |
19: 46,642,396 (GRCm39) |
|
probably null |
Het |
Wee1 |
G |
T |
7: 109,723,762 (GRCm39) |
D226Y |
probably damaging |
Het |
Yap1 |
C |
T |
9: 8,004,285 (GRCm39) |
G36D |
probably damaging |
Het |
Zmym6 |
T |
C |
4: 127,017,348 (GRCm39) |
I951T |
possibly 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 |
|
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'- AGATGCCTGGGATGTTCTAGAG -3'
(R):5'- ACGTAGGCCTATGGGTTTTC -3'
Sequencing Primer
(F):5'- GGAAGGACCCTCCGTAATCC -3'
(R):5'- CTCTGTAAACCTGGTCCTAT -3'
|
Posted On |
2015-04-29 |