Incidental Mutation 'R7057:Slc6a6'
| ID |
547979 |
| 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 |
045154-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7057 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
91661031-91736044 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 91718248 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Alanine
at position 354
(E354A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032185
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032185]
|
| AlphaFold |
O35316 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032185
AA Change: E354A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000032185
Gene: ENSMUSG00000030096
AA Change: E354A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SNF
|
41 |
568 |
1.2e-241 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205663
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810009J06Rik |
T |
A |
6: 40,945,181 (GRCm39) |
V220D |
probably benign |
Het |
| Ankrd1 |
T |
C |
19: 36,095,633 (GRCm39) |
E113G |
possibly damaging |
Het |
| Aqp12 |
T |
C |
1: 92,939,718 (GRCm39) |
L249P |
probably damaging |
Het |
| Atg4a-ps |
A |
G |
3: 103,553,296 (GRCm39) |
F15S |
possibly damaging |
Het |
| Bub1 |
T |
A |
2: 127,671,447 (GRCm39) |
M46L |
probably benign |
Het |
| C1ra |
G |
A |
6: 124,494,684 (GRCm39) |
E316K |
probably benign |
Het |
| C2cd4d |
A |
G |
3: 94,270,800 (GRCm39) |
H22R |
probably benign |
Het |
| Ccdc157 |
A |
G |
11: 4,094,586 (GRCm39) |
V480A |
probably benign |
Het |
| Cdc42ep3 |
G |
A |
17: 79,642,952 (GRCm39) |
|
probably benign |
Het |
| Cela1 |
T |
A |
15: 100,580,774 (GRCm39) |
T161S |
possibly damaging |
Het |
| Chtf18 |
G |
T |
17: 25,940,100 (GRCm39) |
A697E |
possibly damaging |
Het |
| Cr2 |
T |
C |
1: 194,833,918 (GRCm39) |
D957G |
possibly damaging |
Het |
| Cyp2c40 |
A |
G |
19: 39,796,063 (GRCm39) |
V60A |
probably damaging |
Het |
| Dazl |
CCATGATGGCGGC |
CC |
17: 50,600,434 (GRCm39) |
|
probably null |
Het |
| Dock2 |
A |
T |
11: 34,177,684 (GRCm39) |
L1824Q |
probably benign |
Het |
| Dock2 |
T |
C |
11: 34,586,044 (GRCm39) |
Y546C |
probably benign |
Het |
| Focad |
G |
A |
4: 88,192,342 (GRCm39) |
C557Y |
unknown |
Het |
| Ftmt |
T |
A |
18: 52,465,180 (GRCm39) |
N165K |
probably benign |
Het |
| Gen1 |
A |
C |
12: 11,292,419 (GRCm39) |
S457A |
probably benign |
Het |
| Gja1 |
T |
G |
10: 56,264,129 (GRCm39) |
S163A |
probably benign |
Het |
| Gm8267 |
T |
C |
14: 44,959,481 (GRCm39) |
I194M |
probably damaging |
Het |
| Golga3 |
T |
A |
5: 110,336,529 (GRCm39) |
S389R |
probably damaging |
Het |
| Gpc5 |
C |
A |
14: 115,370,654 (GRCm39) |
Q87K |
possibly damaging |
Het |
| Hmcn2 |
G |
A |
2: 31,312,661 (GRCm39) |
A3420T |
probably damaging |
Het |
| Htt |
A |
G |
5: 34,979,067 (GRCm39) |
S817G |
probably null |
Het |
| Hus1b |
C |
T |
13: 31,131,533 (GRCm39) |
C42Y |
possibly damaging |
Het |
| Iars2 |
A |
G |
1: 185,021,564 (GRCm39) |
F913L |
probably benign |
Het |
| Kcna4 |
A |
G |
2: 107,125,665 (GRCm39) |
E133G |
probably damaging |
Het |
| Klhl36 |
T |
C |
8: 120,603,536 (GRCm39) |
L597P |
probably benign |
Het |
| Ltv1 |
T |
C |
10: 13,056,646 (GRCm39) |
E299G |
possibly damaging |
Het |
| Mmp12 |
A |
G |
9: 7,357,840 (GRCm39) |
Y348C |
probably damaging |
Het |
| Mmp12 |
G |
A |
9: 7,369,173 (GRCm39) |
V270I |
probably benign |
Het |
| Mmp2 |
A |
G |
8: 93,558,333 (GRCm39) |
D134G |
probably damaging |
Het |
| Mrpl15 |
A |
T |
1: 4,846,865 (GRCm39) |
M237K |
probably benign |
Het |
| Ms4a6b |
G |
T |
19: 11,504,253 (GRCm39) |
V177F |
possibly damaging |
Het |
| Muc16 |
A |
G |
9: 18,557,375 (GRCm39) |
S2973P |
unknown |
Het |
| Or1e30 |
A |
C |
11: 73,677,974 (GRCm39) |
D70A |
possibly damaging |
Het |
| Or4c114 |
A |
C |
2: 88,904,808 (GRCm39) |
I209S |
possibly damaging |
Het |
| Or5b120 |
G |
T |
19: 13,480,243 (GRCm39) |
D179Y |
probably damaging |
Het |
| Or5b12b |
A |
T |
19: 12,862,006 (GRCm39) |
I254F |
probably damaging |
Het |
| Or8b48 |
A |
T |
9: 38,493,050 (GRCm39) |
H159L |
probably damaging |
Het |
| Pikfyve |
T |
A |
1: 65,286,364 (GRCm39) |
I1201K |
probably benign |
Het |
| Plekhn1 |
T |
G |
4: 156,318,374 (GRCm39) |
M83L |
probably damaging |
Het |
| Pnlip |
G |
T |
19: 58,664,695 (GRCm39) |
D212Y |
probably damaging |
Het |
| Pomt2 |
T |
C |
12: 87,174,152 (GRCm39) |
N417S |
probably damaging |
Het |
| Pxylp1 |
T |
A |
9: 96,707,103 (GRCm39) |
M360L |
probably benign |
Het |
| Rbak |
G |
A |
5: 143,159,682 (GRCm39) |
T457I |
possibly damaging |
Het |
| Runx2 |
A |
T |
17: 45,125,424 (GRCm39) |
W31R |
probably null |
Het |
| Sec16a |
T |
A |
2: 26,315,277 (GRCm39) |
I1795F |
probably damaging |
Het |
| Sik2 |
A |
T |
9: 50,909,861 (GRCm39) |
I64N |
probably damaging |
Het |
| Slc26a8 |
T |
C |
17: 28,857,371 (GRCm39) |
E924G |
possibly damaging |
Het |
| Slc30a2 |
G |
A |
4: 134,074,726 (GRCm39) |
R161Q |
probably damaging |
Het |
| Slc45a4 |
C |
A |
15: 73,459,487 (GRCm39) |
D174Y |
probably damaging |
Het |
| Slc8a1 |
A |
T |
17: 81,956,524 (GRCm39) |
S171R |
probably damaging |
Het |
| Srgap1 |
T |
C |
10: 121,640,858 (GRCm39) |
I669M |
probably benign |
Het |
| Stk39 |
C |
A |
2: 68,240,471 (GRCm39) |
A87S |
possibly damaging |
Het |
| Tasor |
A |
T |
14: 27,183,608 (GRCm39) |
N689I |
probably damaging |
Het |
| Tbx18 |
C |
A |
9: 87,587,317 (GRCm39) |
S600I |
possibly damaging |
Het |
| Tesc |
A |
C |
5: 118,193,025 (GRCm39) |
K114Q |
probably damaging |
Het |
| Tll1 |
T |
C |
8: 64,554,915 (GRCm39) |
D256G |
probably damaging |
Het |
| Tmem35b |
T |
A |
4: 127,021,679 (GRCm39) |
I45K |
probably benign |
Het |
| Tnks |
T |
C |
8: 35,307,168 (GRCm39) |
D1127G |
probably damaging |
Het |
| Trpm8 |
A |
T |
1: 88,289,802 (GRCm39) |
D920V |
probably null |
Het |
| U2af1 |
A |
T |
17: 31,867,831 (GRCm39) |
D79E |
probably benign |
Het |
| Zfp704 |
T |
C |
3: 9,535,977 (GRCm39) |
D331G |
probably damaging |
Het |
| Znrf3 |
G |
T |
11: 5,232,442 (GRCm39) |
P261Q |
probably benign |
Het |
| Zscan4b |
A |
T |
7: 10,635,636 (GRCm39) |
C202* |
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 |
|
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 |
|
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'- CCGGTGGACGTTAGAAATGATG -3'
(R):5'- GAGGACCTTTAACTGTAGCCTTTG -3'
Sequencing Primer
(F):5'- CCTGACGTGTGTGTAACT -3'
(R):5'- TGTACTCAGGTATGGGAGCACATC -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation