Incidental Mutation 'R9257:Slc6a6'
| ID |
701943 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9257 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
91661031-91736044 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 91716952 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Tyrosine
at position 276
(F276Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032185
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032185]
|
| AlphaFold |
O35316 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000032185
AA Change: F276Y
PolyPhen 2
Score 0.742 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000032185
Gene: ENSMUSG00000030096
AA Change: F276Y
| 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: 99.9%
- 10x: 99.5%
- 20x: 97.9%
|
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921509C19Rik |
T |
A |
2: 151,315,627 (GRCm39) |
D17V |
probably benign |
Het |
| 9130401M01Rik |
A |
C |
15: 57,892,414 (GRCm39) |
H128Q |
possibly damaging |
Het |
| Abcd2 |
T |
C |
15: 91,075,315 (GRCm39) |
Y166C |
possibly damaging |
Het |
| Adamtsl4 |
C |
A |
3: 95,588,575 (GRCm39) |
V546F |
probably damaging |
Het |
| Als2cl |
T |
A |
9: 110,723,755 (GRCm39) |
V717E |
probably damaging |
Het |
| Atm |
A |
G |
9: 53,407,150 (GRCm39) |
|
probably null |
Het |
| Atp2c1 |
C |
A |
9: 105,291,851 (GRCm39) |
E904* |
probably null |
Het |
| Ccdc88c |
G |
A |
12: 100,889,474 (GRCm39) |
S1523F |
possibly damaging |
Het |
| Cds1 |
A |
T |
5: 101,963,751 (GRCm39) |
I357F |
probably benign |
Het |
| Cilp |
T |
A |
9: 65,174,451 (GRCm39) |
V13D |
possibly damaging |
Het |
| Copz2 |
A |
G |
11: 96,748,386 (GRCm39) |
D180G |
possibly damaging |
Het |
| Cpsf1 |
C |
T |
15: 76,484,992 (GRCm39) |
E546K |
probably benign |
Het |
| Ctsm |
T |
C |
13: 61,684,413 (GRCm39) |
N320D |
probably damaging |
Het |
| Fat3 |
G |
A |
9: 15,907,863 (GRCm39) |
T2713I |
probably benign |
Het |
| Fcrl5 |
T |
A |
3: 87,343,195 (GRCm39) |
S2T |
probably benign |
Het |
| Fgfr4 |
T |
C |
13: 55,315,974 (GRCm39) |
S796P |
unknown |
Het |
| Flrt3 |
A |
G |
2: 140,502,159 (GRCm39) |
F490L |
probably benign |
Het |
| Fras1 |
A |
T |
5: 96,910,359 (GRCm39) |
I3263F |
probably damaging |
Het |
| Hydin |
A |
T |
8: 111,301,648 (GRCm39) |
D3793V |
probably damaging |
Het |
| Kif5c |
T |
A |
2: 49,590,604 (GRCm39) |
L269* |
probably null |
Het |
| Klhl32 |
A |
G |
4: 24,649,608 (GRCm39) |
V396A |
probably benign |
Het |
| Krt1c |
C |
T |
15: 101,724,926 (GRCm39) |
R228Q |
probably benign |
Het |
| Lcn9 |
T |
C |
2: 25,714,784 (GRCm39) |
|
probably null |
Het |
| Lingo4 |
A |
C |
3: 94,310,676 (GRCm39) |
D538A |
probably benign |
Het |
| Lonp1 |
G |
T |
17: 56,927,516 (GRCm39) |
Y299* |
probably null |
Het |
| Mettl16 |
T |
A |
11: 74,708,127 (GRCm39) |
V442D |
possibly damaging |
Het |
| Mettl25b |
G |
T |
3: 87,831,768 (GRCm39) |
Q397K |
probably benign |
Het |
| Mis18bp1 |
A |
G |
12: 65,180,631 (GRCm39) |
V950A |
probably benign |
Het |
| Mndal |
A |
T |
1: 173,690,274 (GRCm39) |
V352E |
probably damaging |
Het |
| Mrpl55 |
T |
C |
11: 59,096,578 (GRCm39) |
V117A |
probably benign |
Het |
| Muc6 |
T |
A |
7: 141,226,738 (GRCm39) |
S1430C |
unknown |
Het |
| Myh11 |
C |
A |
16: 14,087,120 (GRCm39) |
G119C |
|
Het |
| Myorg |
T |
C |
4: 41,499,030 (GRCm39) |
D200G |
probably benign |
Het |
| Neu1 |
A |
G |
17: 35,150,396 (GRCm39) |
D5G |
probably benign |
Het |
| Nrcam |
T |
A |
12: 44,610,837 (GRCm39) |
D512E |
probably benign |
Het |
| Nup214 |
T |
G |
2: 31,923,347 (GRCm39) |
V1292G |
possibly damaging |
Het |
| Nwd1 |
T |
A |
8: 73,397,566 (GRCm39) |
L602M |
probably damaging |
Het |
| Or6c3b |
C |
A |
10: 129,527,003 (GRCm39) |
L302F |
probably benign |
Het |
| Pck2 |
G |
T |
14: 55,782,702 (GRCm39) |
G379W |
probably damaging |
Het |
| Per2 |
C |
T |
1: 91,376,445 (GRCm39) |
V143M |
probably damaging |
Het |
| Pfkl |
A |
T |
10: 77,825,489 (GRCm39) |
Y634N |
probably damaging |
Het |
| Phlpp1 |
A |
G |
1: 106,100,281 (GRCm39) |
D183G |
possibly damaging |
Het |
| Pkdrej |
T |
A |
15: 85,700,098 (GRCm39) |
Y1946F |
probably damaging |
Het |
| Plxna4 |
C |
T |
6: 32,139,018 (GRCm39) |
D1717N |
probably damaging |
Het |
| Ppp1r14bl |
G |
T |
1: 23,141,275 (GRCm39) |
T13N |
probably benign |
Het |
| Pramel23 |
T |
A |
4: 143,425,685 (GRCm39) |
D86V |
probably damaging |
Het |
| Prdm16 |
A |
T |
4: 154,422,155 (GRCm39) |
V879E |
probably damaging |
Het |
| Prr23a3 |
T |
C |
9: 98,747,298 (GRCm39) |
V84A |
probably benign |
Het |
| Ptp4a1 |
A |
G |
1: 30,985,346 (GRCm39) |
|
probably benign |
Het |
| Rhbdf1 |
T |
C |
11: 32,160,754 (GRCm39) |
H634R |
probably benign |
Het |
| Rmi2 |
T |
C |
16: 10,653,089 (GRCm39) |
S46P |
probably benign |
Het |
| Rsf1 |
A |
T |
7: 97,334,918 (GRCm39) |
E1350D |
|
Het |
| Sppl3 |
A |
G |
5: 115,221,532 (GRCm39) |
Y120C |
probably benign |
Het |
| Stard13 |
G |
T |
5: 150,985,956 (GRCm39) |
A518E |
probably benign |
Het |
| Taf2 |
A |
T |
15: 54,929,409 (GRCm39) |
V49E |
possibly damaging |
Het |
| Tas2r140 |
T |
A |
6: 40,468,592 (GRCm39) |
W141R |
probably damaging |
Het |
| Tlx2 |
T |
A |
6: 83,047,035 (GRCm39) |
H9L |
unknown |
Het |
| Tmco1 |
C |
T |
1: 167,136,132 (GRCm39) |
|
probably benign |
Het |
| Tmem132d |
G |
A |
5: 127,861,491 (GRCm39) |
Q877* |
probably null |
Het |
| Unc5d |
A |
T |
8: 29,215,174 (GRCm39) |
|
probably null |
Het |
| Upp1 |
A |
T |
11: 9,075,661 (GRCm39) |
T4S |
probably benign |
Het |
| Uros |
A |
T |
7: 133,292,853 (GRCm39) |
I146N |
probably damaging |
Het |
| Vsig10 |
A |
T |
5: 117,463,131 (GRCm39) |
D119V |
probably benign |
Het |
| Washc2 |
C |
A |
6: 116,193,069 (GRCm39) |
Y138* |
probably null |
Het |
| Ywhah |
T |
A |
5: 33,184,095 (GRCm39) |
D99E |
probably benign |
Het |
| Zdbf2 |
G |
A |
1: 63,345,400 (GRCm39) |
G1260R |
probably damaging |
Het |
| Zfp663 |
T |
C |
2: 165,195,974 (GRCm39) |
T82A |
probably benign |
Het |
| Zfp831 |
T |
A |
2: 174,488,156 (GRCm39) |
C944S |
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 |
|
|
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 |
|
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 |
|
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'- AATATGTCTCTAGGGTCCTTGC -3'
(R):5'- TACTGGCCCAGGAGAGAAGTAC -3'
Sequencing Primer
(F):5'- AAGCACGTGCCTCTGAGAG -3'
(R):5'- CCAGGCAGTAATGGTTGGCTAC -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation