Incidental Mutation 'R6160:Slc6a6'
| ID |
501890 |
| 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 |
044307-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6160 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
91661031-91736044 bp(+) (GRCm39) |
| Type of Mutation |
splice site (3 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 91716995 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032185
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032185]
|
| AlphaFold |
O35316 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000032185
|
| SMART Domains |
Protein: ENSMUSP00000032185
Gene: ENSMUSG00000030096
| 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: ENSMUST00000205663
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205764
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930433I11Rik |
T |
A |
7: 40,642,950 (GRCm39) |
S297R |
possibly damaging |
Het |
| 5530400C23Rik |
A |
G |
6: 133,271,289 (GRCm39) |
E111G |
possibly damaging |
Het |
| 8030423J24Rik |
T |
A |
13: 71,032,029 (GRCm39) |
S34T |
unknown |
Het |
| Ace3 |
T |
A |
11: 105,885,558 (GRCm39) |
W20R |
possibly damaging |
Het |
| Adgrf1 |
A |
G |
17: 43,621,578 (GRCm39) |
E605G |
probably damaging |
Het |
| Arhgap44 |
G |
A |
11: 65,053,375 (GRCm39) |
|
probably benign |
Het |
| Atm |
A |
C |
9: 53,402,259 (GRCm39) |
H1404Q |
probably benign |
Het |
| AW209491 |
A |
G |
13: 14,811,306 (GRCm39) |
E53G |
probably damaging |
Het |
| Bhmt1b |
G |
A |
18: 87,775,245 (GRCm39) |
C256Y |
probably damaging |
Het |
| Cdt1 |
C |
T |
8: 123,298,107 (GRCm39) |
T366I |
probably benign |
Het |
| Cerk |
A |
T |
15: 86,026,974 (GRCm39) |
C179S |
probably benign |
Het |
| Cldn10 |
T |
C |
14: 119,099,255 (GRCm39) |
V123A |
possibly damaging |
Het |
| Clip1 |
T |
C |
5: 123,751,604 (GRCm39) |
K726E |
possibly damaging |
Het |
| Dcaf12 |
A |
T |
4: 41,294,043 (GRCm39) |
Y365N |
probably damaging |
Het |
| Dennd6b |
A |
G |
15: 89,073,024 (GRCm39) |
L171P |
probably damaging |
Het |
| Dip2c |
G |
A |
13: 9,583,290 (GRCm39) |
V91I |
probably benign |
Het |
| Dlec1 |
A |
G |
9: 118,972,387 (GRCm39) |
I1431V |
probably benign |
Het |
| Egln1 |
T |
C |
8: 125,675,231 (GRCm39) |
D188G |
probably damaging |
Het |
| Enpp5 |
T |
A |
17: 44,392,259 (GRCm39) |
N229K |
possibly damaging |
Het |
| Fmo1 |
T |
G |
1: 162,663,867 (GRCm39) |
I221L |
probably benign |
Het |
| Fsip2 |
G |
A |
2: 82,818,289 (GRCm39) |
W4674* |
probably null |
Het |
| Gm12185 |
G |
A |
11: 48,799,255 (GRCm39) |
Q413* |
probably null |
Het |
| Gm7298 |
A |
T |
6: 121,741,886 (GRCm39) |
H436L |
probably benign |
Het |
| Gucy2c |
G |
A |
6: 136,717,684 (GRCm39) |
Q430* |
probably null |
Het |
| Hgd |
A |
G |
16: 37,433,660 (GRCm39) |
H134R |
probably damaging |
Het |
| Hoxd8 |
A |
G |
2: 74,536,343 (GRCm39) |
E151G |
probably damaging |
Het |
| Il15ra |
A |
G |
2: 11,724,827 (GRCm39) |
D99G |
probably damaging |
Het |
| Ints4 |
T |
A |
7: 97,158,790 (GRCm39) |
|
probably null |
Het |
| Itgb1 |
T |
A |
8: 129,446,764 (GRCm39) |
F426L |
possibly damaging |
Het |
| Itpr1 |
A |
C |
6: 108,495,716 (GRCm39) |
I2534L |
probably benign |
Het |
| Kcnq4 |
T |
A |
4: 120,573,756 (GRCm39) |
H235L |
probably damaging |
Het |
| Kcnt1 |
T |
A |
2: 25,782,395 (GRCm39) |
I178N |
probably damaging |
Het |
| Kidins220 |
A |
G |
12: 25,047,310 (GRCm39) |
D252G |
probably damaging |
Het |
| Krt23 |
A |
G |
11: 99,376,544 (GRCm39) |
I204T |
probably damaging |
Het |
| Lipo4 |
A |
G |
19: 33,480,693 (GRCm39) |
L225P |
probably damaging |
Het |
| Lrp3 |
T |
C |
7: 34,903,548 (GRCm39) |
D245G |
possibly damaging |
Het |
| Mmp16 |
A |
G |
4: 18,051,857 (GRCm39) |
D282G |
probably damaging |
Het |
| Myo1c |
A |
T |
11: 75,541,568 (GRCm39) |
H18L |
probably benign |
Het |
| Myo1f |
C |
A |
17: 33,823,318 (GRCm39) |
P981Q |
probably benign |
Het |
| Nle1 |
A |
T |
11: 82,798,983 (GRCm39) |
F33I |
probably benign |
Het |
| Nlrp4e |
T |
G |
7: 23,020,731 (GRCm39) |
M406R |
probably damaging |
Het |
| Obscn |
A |
T |
11: 58,942,611 (GRCm39) |
V4857E |
probably damaging |
Het |
| Palb2 |
A |
T |
7: 121,727,643 (GRCm39) |
|
probably null |
Het |
| Phospho1 |
A |
T |
11: 95,721,450 (GRCm39) |
E22V |
probably damaging |
Het |
| Pom121l2 |
C |
T |
13: 22,167,838 (GRCm39) |
S703L |
possibly damaging |
Het |
| Prex2 |
T |
C |
1: 11,064,075 (GRCm39) |
L20P |
probably damaging |
Het |
| Psmb7 |
T |
C |
2: 38,533,393 (GRCm39) |
T45A |
probably damaging |
Het |
| R3hdm2 |
T |
C |
10: 127,320,376 (GRCm39) |
I532T |
probably damaging |
Het |
| Rcn1 |
T |
C |
2: 105,222,362 (GRCm39) |
D208G |
probably damaging |
Het |
| Recql5 |
A |
G |
11: 115,823,613 (GRCm39) |
|
probably null |
Het |
| Resf1 |
G |
A |
6: 149,233,005 (GRCm39) |
|
probably null |
Het |
| Rfc4 |
A |
T |
16: 22,933,433 (GRCm39) |
I242N |
probably damaging |
Het |
| Rims1 |
T |
C |
1: 22,503,235 (GRCm39) |
Y650C |
probably damaging |
Het |
| Shc2 |
C |
T |
10: 79,462,853 (GRCm39) |
|
probably null |
Het |
| Slc14a2 |
A |
T |
18: 78,202,190 (GRCm39) |
|
probably null |
Het |
| Synj2 |
C |
A |
17: 6,058,336 (GRCm39) |
H275N |
possibly damaging |
Het |
| T |
A |
T |
17: 8,660,618 (GRCm39) |
T410S |
probably benign |
Het |
| Tars3 |
A |
G |
7: 65,332,527 (GRCm39) |
I543V |
probably benign |
Het |
| Tbc1d8 |
T |
A |
1: 39,411,484 (GRCm39) |
K1117N |
probably damaging |
Het |
| Tm7sf3 |
A |
T |
6: 146,507,787 (GRCm39) |
L425* |
probably null |
Het |
| Trav14-3 |
A |
G |
14: 54,000,978 (GRCm39) |
Y63C |
probably damaging |
Het |
| Tyro3 |
A |
C |
2: 119,633,751 (GRCm39) |
D133A |
probably damaging |
Het |
| Vmn1r119 |
T |
G |
7: 20,745,740 (GRCm39) |
H214P |
possibly damaging |
Het |
| Vmn2r120 |
G |
A |
17: 57,816,418 (GRCm39) |
P646S |
probably benign |
Het |
| Zbtb7c |
A |
T |
18: 76,278,904 (GRCm39) |
Y454F |
probably benign |
Het |
| Zmym2 |
T |
C |
14: 57,187,766 (GRCm39) |
L1144P |
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 |
|
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'- CAAGTCTACCCGATGCCTTC -3'
(R):5'- CATTGAGTCTCTGGTCCTGATG -3'
Sequencing Primer
(F):5'- GATGCCTTCTCGACAACAGGTTG -3'
(R):5'- CCTGAGGCAGGCTCTGTAG -3'
|
| Posted On |
2017-12-04 |
Incidental Mutation