Incidental Mutation 'R9242:Slc6a13'
| ID |
701043 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc6a13
|
| Ensembl Gene |
ENSMUSG00000030108 |
| Gene Name |
solute carrier family 6 (neurotransmitter transporter, GABA), member 13 |
| Synonyms |
Gabt3, Gat2 |
| MMRRC Submission |
068988-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.738)
|
| Stock # |
R9242 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
121277247-121314680 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 121295228 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Tyrosine
at position 77
(F77Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066779
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064580]
[ENSMUST00000142419]
|
| AlphaFold |
P31649 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000064580
AA Change: F77Y
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000066779
Gene: ENSMUSG00000030108
AA Change: F77Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SNF
|
32 |
556 |
6.2e-252 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000142419
AA Change: F88Y
PolyPhen 2
Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000120689
Gene: ENSMUSG00000030108
AA Change: F88Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SNF
|
43 |
192 |
4e-78 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (49/49) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced taurine levels in the liver and increased taurine levels in the brain. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
C |
A |
5: 8,949,677 (GRCm39) |
T79K |
probably damaging |
Het |
| Ackr3 |
G |
T |
1: 90,142,558 (GRCm39) |
G339V |
probably damaging |
Het |
| Agpat4 |
G |
T |
17: 12,429,186 (GRCm39) |
R146L |
probably damaging |
Het |
| Ampd1 |
C |
T |
3: 102,998,936 (GRCm39) |
R364C |
probably damaging |
Het |
| Atrnl1 |
A |
G |
19: 57,645,660 (GRCm39) |
T507A |
probably benign |
Het |
| Cand2 |
C |
G |
6: 115,768,923 (GRCm39) |
R578G |
probably benign |
Het |
| Capg |
C |
T |
6: 72,532,869 (GRCm39) |
P111L |
probably damaging |
Het |
| Carm1 |
C |
T |
9: 21,494,350 (GRCm39) |
T289I |
probably damaging |
Het |
| Ccr6 |
A |
G |
17: 8,474,965 (GRCm39) |
I57V |
probably benign |
Het |
| Cdk5rap2 |
T |
C |
4: 70,255,583 (GRCm39) |
I434V |
possibly damaging |
Het |
| Chrdl2 |
C |
T |
7: 99,655,743 (GRCm39) |
|
probably benign |
Het |
| Cntnap5a |
A |
G |
1: 116,220,109 (GRCm39) |
T640A |
probably benign |
Het |
| Ctsd |
T |
C |
7: 141,937,280 (GRCm39) |
|
probably null |
Het |
| D17H6S53E |
G |
T |
17: 35,346,536 (GRCm39) |
R149L |
possibly damaging |
Het |
| Dync1i1 |
A |
G |
6: 5,769,706 (GRCm39) |
T77A |
probably benign |
Het |
| Emc2 |
T |
C |
15: 43,358,639 (GRCm39) |
M100T |
probably benign |
Het |
| Esrra |
A |
G |
19: 6,889,863 (GRCm39) |
V290A |
probably benign |
Het |
| Fbl |
T |
C |
7: 27,876,620 (GRCm39) |
I207T |
probably benign |
Het |
| Fktn |
G |
A |
4: 53,734,854 (GRCm39) |
G125D |
probably benign |
Het |
| Gcc1 |
T |
A |
6: 28,420,375 (GRCm39) |
N314I |
possibly damaging |
Het |
| Gzmm |
A |
T |
10: 79,530,354 (GRCm39) |
D175V |
probably damaging |
Het |
| Heatr1 |
G |
A |
13: 12,448,806 (GRCm39) |
M1840I |
probably benign |
Het |
| Helz |
T |
C |
11: 107,523,153 (GRCm39) |
L779P |
probably damaging |
Het |
| Impg1 |
T |
A |
9: 80,289,064 (GRCm39) |
N331I |
probably damaging |
Het |
| Inmt |
C |
T |
6: 55,150,270 (GRCm39) |
|
probably null |
Het |
| Inpp5a |
C |
T |
7: 139,061,634 (GRCm39) |
T102M |
probably damaging |
Het |
| Lamc3 |
A |
G |
2: 31,788,323 (GRCm39) |
Y161C |
probably benign |
Het |
| Lpin2 |
A |
G |
17: 71,553,966 (GRCm39) |
*932W |
probably null |
Het |
| Lrp3 |
C |
T |
7: 34,901,934 (GRCm39) |
R649H |
probably benign |
Het |
| Madd |
G |
A |
2: 90,973,949 (GRCm39) |
T1464I |
probably damaging |
Het |
| Nceh1 |
C |
A |
3: 27,293,777 (GRCm39) |
Y178* |
probably null |
Het |
| Or5ae2 |
A |
T |
7: 84,506,086 (GRCm39) |
K172* |
probably null |
Het |
| Or5b96 |
T |
A |
19: 12,867,989 (GRCm39) |
|
probably benign |
Het |
| Pramel39-ps |
G |
T |
5: 94,451,001 (GRCm39) |
P375H |
probably damaging |
Het |
| Ptchd4 |
A |
T |
17: 42,627,604 (GRCm39) |
R22* |
probably null |
Het |
| Ptpru |
C |
T |
4: 131,530,341 (GRCm39) |
G560S |
probably damaging |
Het |
| Ralgapb |
G |
T |
2: 158,277,386 (GRCm39) |
R250L |
probably benign |
Het |
| Rcor1 |
T |
A |
12: 111,076,228 (GRCm39) |
Y395* |
probably null |
Het |
| Slc35f6 |
G |
T |
5: 30,805,410 (GRCm39) |
|
probably benign |
Het |
| Slc40a1 |
A |
G |
1: 45,950,129 (GRCm39) |
V441A |
probably benign |
Het |
| Slc6a15 |
T |
A |
10: 103,229,406 (GRCm39) |
C148* |
probably null |
Het |
| Sox10 |
T |
C |
15: 79,040,640 (GRCm39) |
Y300C |
probably damaging |
Het |
| Tomm70a |
T |
A |
16: 56,958,383 (GRCm39) |
|
probably benign |
Het |
| Tor4a |
A |
G |
2: 25,085,537 (GRCm39) |
V122A |
probably benign |
Het |
| Tpi1 |
T |
C |
6: 124,791,138 (GRCm39) |
Q33R |
probably benign |
Het |
| Unk |
T |
C |
11: 115,940,184 (GRCm39) |
V179A |
probably benign |
Het |
| Ush2a |
G |
T |
1: 188,365,787 (GRCm39) |
G2214C |
probably damaging |
Het |
| Vmn1r159 |
T |
A |
7: 22,542,912 (GRCm39) |
Y40F |
probably benign |
Het |
| Wbp2nl |
T |
C |
15: 82,192,748 (GRCm39) |
V144A |
probably benign |
Het |
| Wdpcp |
A |
G |
11: 21,835,040 (GRCm39) |
E681G |
probably benign |
Het |
|
| Other mutations in Slc6a13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01131:Slc6a13
|
APN |
6 |
121,298,600 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01947:Slc6a13
|
APN |
6 |
121,302,116 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01969:Slc6a13
|
APN |
6 |
121,312,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02546:Slc6a13
|
APN |
6 |
121,310,323 (GRCm39) |
missense |
probably benign |
|
|
IGL02988:Slc6a13
|
APN |
6 |
121,303,066 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03093:Slc6a13
|
APN |
6 |
121,309,407 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03358:Slc6a13
|
APN |
6 |
121,311,495 (GRCm39) |
missense |
probably benign |
|
|
IGL03384:Slc6a13
|
APN |
6 |
121,309,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
ANU74:Slc6a13
|
UTSW |
6 |
121,311,835 (GRCm39) |
missense |
probably benign |
0.42 |
|
R0217:Slc6a13
|
UTSW |
6 |
121,301,279 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0230:Slc6a13
|
UTSW |
6 |
121,301,262 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0744:Slc6a13
|
UTSW |
6 |
121,279,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1546:Slc6a13
|
UTSW |
6 |
121,309,333 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R1604:Slc6a13
|
UTSW |
6 |
121,309,328 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1654:Slc6a13
|
UTSW |
6 |
121,313,885 (GRCm39) |
missense |
probably benign |
|
|
R1781:Slc6a13
|
UTSW |
6 |
121,311,811 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1978:Slc6a13
|
UTSW |
6 |
121,309,332 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2130:Slc6a13
|
UTSW |
6 |
121,302,000 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R4570:Slc6a13
|
UTSW |
6 |
121,313,101 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4623:Slc6a13
|
UTSW |
6 |
121,302,104 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4755:Slc6a13
|
UTSW |
6 |
121,302,008 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5068:Slc6a13
|
UTSW |
6 |
121,310,301 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5485:Slc6a13
|
UTSW |
6 |
121,313,032 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5687:Slc6a13
|
UTSW |
6 |
121,279,700 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6045:Slc6a13
|
UTSW |
6 |
121,298,587 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6235:Slc6a13
|
UTSW |
6 |
121,279,753 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6338:Slc6a13
|
UTSW |
6 |
121,311,798 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6393:Slc6a13
|
UTSW |
6 |
121,313,801 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6844:Slc6a13
|
UTSW |
6 |
121,302,012 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7379:Slc6a13
|
UTSW |
6 |
121,313,798 (GRCm39) |
nonsense |
probably null |
|
|
R7734:Slc6a13
|
UTSW |
6 |
121,314,334 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7800:Slc6a13
|
UTSW |
6 |
121,298,658 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7862:Slc6a13
|
UTSW |
6 |
121,312,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7935:Slc6a13
|
UTSW |
6 |
121,311,450 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R8177:Slc6a13
|
UTSW |
6 |
121,301,987 (GRCm39) |
nonsense |
probably null |
|
|
R8324:Slc6a13
|
UTSW |
6 |
121,314,373 (GRCm39) |
makesense |
probably null |
|
|
R8457:Slc6a13
|
UTSW |
6 |
121,303,063 (GRCm39) |
splice site |
probably null |
|
|
R8992:Slc6a13
|
UTSW |
6 |
121,313,901 (GRCm39) |
nonsense |
probably null |
|
|
R8995:Slc6a13
|
UTSW |
6 |
121,302,012 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9104:Slc6a13
|
UTSW |
6 |
121,313,044 (GRCm39) |
missense |
probably benign |
|
|
R9168:Slc6a13
|
UTSW |
6 |
121,302,042 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9235:Slc6a13
|
UTSW |
6 |
121,301,984 (GRCm39) |
missense |
probably damaging |
0.98 |
|
RF020:Slc6a13
|
UTSW |
6 |
121,301,310 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1177:Slc6a13
|
UTSW |
6 |
121,311,462 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACTACACAGTGTCACCTGCG -3'
(R):5'- AAATATGGAGACTCGTGGTCCTG -3'
Sequencing Primer
(F):5'- CACAGTGTCACCTGCGGTTTG -3'
(R):5'- GAACTGCTGCTTACCAGTCAG -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation