Incidental Mutation 'R8993:Slc6a18'
| ID |
684563 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc6a18
|
| Ensembl Gene |
ENSMUSG00000021612 |
| Gene Name |
solute carrier family 6 (neurotransmitter transporter), member 18 |
| Synonyms |
XT2, D630001K16Rik, Xtrp2 |
| MMRRC Submission |
068824-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8993 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
73809871-73826142 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 73816390 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 330
(I330F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152525
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022105]
[ENSMUST00000109679]
[ENSMUST00000109680]
[ENSMUST00000220650]
[ENSMUST00000222029]
[ENSMUST00000223026]
[ENSMUST00000223074]
|
| AlphaFold |
O88576 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022105
AA Change: I330F
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000022105
Gene: ENSMUSG00000021612
AA Change: I330F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SNF
|
17 |
593 |
2.1e-182 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109679
AA Change: I330F
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000105301
Gene: ENSMUSG00000021612
AA Change: I330F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SNF
|
17 |
511 |
6.8e-164 |
PFAM |
|
low complexity region
|
513 |
526 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109680
AA Change: I330F
PolyPhen 2
Score 0.128 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000105302
Gene: ENSMUSG00000021612
AA Change: I330F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SNF
|
17 |
325 |
2.1e-126 |
PFAM |
|
Pfam:SNF
|
392 |
555 |
9.1e-31 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220650
AA Change: I330F
PolyPhen 2
Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220703
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222029
AA Change: I330F
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000223026
AA Change: I330F
PolyPhen 2
Score 0.643 (Sensitivity: 0.87; Specificity: 0.91)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000223074
AA Change: I330F
PolyPhen 2
Score 0.582 (Sensitivity: 0.88; Specificity: 0.91)
|
| Meta Mutation Damage Score |
0.2134 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (56/56) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The SLC6 family of proteins, which includes SLC6A18, act as specific transporters for neurotransmitters, amino acids, and osmolytes like betaine, taurine, and creatine. SLC6 proteins are sodium cotransporters that derive the energy for solute transport from the electrochemical gradient for sodium ions (Hoglund et al., 2005 [PubMed 16125675]).[supplied by OMIM, Apr 2010]
PHENOTYPE: Homozygous null mice are overtly normal but have increased blood pressure associated with impaired renal accumulation of glycine. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700069L16Rik |
A |
T |
5: 113,841,842 (GRCm39) |
C92* |
probably null |
Het |
| A830018L16Rik |
G |
T |
1: 11,615,491 (GRCm39) |
E155* |
probably null |
Het |
| Acaa1a |
A |
T |
9: 119,178,418 (GRCm39) |
|
probably null |
Het |
| Adcy4 |
T |
C |
14: 56,008,835 (GRCm39) |
E864G |
probably null |
Het |
| Adcy4 |
T |
C |
14: 56,016,156 (GRCm39) |
D387G |
probably damaging |
Het |
| Ank1 |
C |
T |
8: 23,588,955 (GRCm39) |
H574Y |
probably damaging |
Het |
| Arhgef16 |
C |
T |
4: 154,371,495 (GRCm39) |
E233K |
probably damaging |
Het |
| Arhgef26 |
A |
T |
3: 62,355,525 (GRCm39) |
Y699F |
probably benign |
Het |
| BB014433 |
C |
T |
8: 15,092,101 (GRCm39) |
V251M |
probably damaging |
Het |
| Bcan |
G |
A |
3: 87,901,529 (GRCm39) |
A391V |
probably benign |
Het |
| Bod1l |
A |
C |
5: 41,974,210 (GRCm39) |
V2368G |
probably benign |
Het |
| Braf |
A |
G |
6: 39,639,085 (GRCm39) |
V222A |
probably damaging |
Het |
| Cd33 |
G |
T |
7: 43,182,871 (GRCm39) |
|
probably benign |
Het |
| Cdkl2 |
T |
A |
5: 92,170,010 (GRCm39) |
K324N |
probably damaging |
Het |
| Celf6 |
A |
T |
9: 59,510,154 (GRCm39) |
T199S |
probably damaging |
Het |
| Cmtm4 |
A |
C |
8: 105,081,798 (GRCm39) |
D196E |
probably benign |
Het |
| Cntn1 |
G |
A |
15: 92,132,347 (GRCm39) |
V148M |
probably damaging |
Het |
| Col1a2 |
C |
A |
6: 4,535,451 (GRCm39) |
P921H |
unknown |
Het |
| Crmp1 |
T |
C |
5: 37,399,490 (GRCm39) |
M1T |
probably null |
Het |
| Dnah7a |
A |
T |
1: 53,543,262 (GRCm39) |
Y2303N |
probably damaging |
Het |
| Dock10 |
G |
T |
1: 80,551,888 (GRCm39) |
T650K |
probably benign |
Het |
| Eif1ad15 |
A |
G |
12: 88,288,170 (GRCm39) |
F28L |
probably benign |
Het |
| Fam24a |
A |
G |
7: 130,938,269 (GRCm39) |
D53G |
probably benign |
Het |
| Foxa2 |
A |
T |
2: 147,886,626 (GRCm39) |
M69K |
probably benign |
Het |
| Gatad2a |
T |
A |
8: 70,362,585 (GRCm39) |
H601L |
probably damaging |
Het |
| Gimap4 |
A |
C |
6: 48,667,539 (GRCm39) |
D98A |
probably damaging |
Het |
| Gm14295 |
G |
T |
2: 176,501,623 (GRCm39) |
R371L |
possibly damaging |
Het |
| Golim4 |
G |
T |
3: 75,785,435 (GRCm39) |
A652E |
probably benign |
Het |
| Grid1 |
A |
G |
14: 34,748,899 (GRCm39) |
I240V |
probably benign |
Het |
| Iqsec3 |
T |
A |
6: 121,390,272 (GRCm39) |
T400S |
unknown |
Het |
| Itk |
G |
A |
11: 46,225,735 (GRCm39) |
R539C |
probably damaging |
Het |
| Kif27 |
T |
A |
13: 58,473,912 (GRCm39) |
D695V |
possibly damaging |
Het |
| Krt79 |
T |
C |
15: 101,839,441 (GRCm39) |
|
probably benign |
Het |
| Lama2 |
C |
A |
10: 27,298,710 (GRCm39) |
V129L |
possibly damaging |
Het |
| Lonrf1 |
C |
A |
8: 36,696,392 (GRCm39) |
E552D |
possibly damaging |
Het |
| Mpp3 |
A |
G |
11: 101,891,491 (GRCm39) |
I549T |
probably benign |
Het |
| Nat1 |
T |
C |
8: 67,944,394 (GRCm39) |
Y260H |
probably benign |
Het |
| Nipal2 |
T |
A |
15: 34,648,983 (GRCm39) |
K69* |
probably null |
Het |
| Nlrx1 |
G |
T |
9: 44,168,238 (GRCm39) |
|
probably benign |
Het |
| Pde1b |
C |
A |
15: 103,429,852 (GRCm39) |
A115E |
probably benign |
Het |
| Pde4dip |
A |
G |
3: 97,673,810 (GRCm39) |
Y369H |
probably damaging |
Het |
| Pnpla7 |
A |
G |
2: 24,943,431 (GRCm39) |
Y1286C |
possibly damaging |
Het |
| Poglut2 |
G |
T |
1: 44,151,924 (GRCm39) |
L322I |
possibly damaging |
Het |
| Pramel5 |
T |
C |
4: 143,999,529 (GRCm39) |
E186G |
possibly damaging |
Het |
| Qdpr |
C |
T |
5: 45,607,386 (GRCm39) |
G20D |
probably damaging |
Het |
| Rmnd1 |
T |
G |
10: 4,357,918 (GRCm39) |
I364L |
probably benign |
Het |
| Slc5a4a |
A |
T |
10: 76,022,369 (GRCm39) |
E568V |
probably benign |
Het |
| Spesp1 |
T |
C |
9: 62,180,552 (GRCm39) |
T119A |
possibly damaging |
Het |
| Sypl1 |
G |
A |
12: 33,025,662 (GRCm39) |
S242N |
probably benign |
Het |
| Tbx18 |
G |
A |
9: 87,612,770 (GRCm39) |
T43M |
probably benign |
Het |
| Tm7sf2 |
T |
A |
19: 6,113,956 (GRCm39) |
D263V |
probably damaging |
Het |
| Trbv21 |
T |
C |
6: 41,179,924 (GRCm39) |
I80T |
probably damaging |
Het |
| Ttc3 |
T |
A |
16: 94,228,667 (GRCm39) |
L747Q |
possibly damaging |
Het |
| Ttll11 |
T |
C |
2: 35,707,813 (GRCm39) |
D498G |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,583,714 (GRCm39) |
Y22431C |
probably null |
Het |
| Ubtfl1 |
T |
A |
9: 18,321,637 (GRCm39) |
S388R |
|
Het |
| Vmn2r118 |
A |
T |
17: 55,917,835 (GRCm39) |
L226I |
possibly damaging |
Het |
| Wdr46 |
A |
G |
17: 34,168,156 (GRCm39) |
H576R |
probably benign |
Het |
| Zfp426 |
A |
G |
9: 20,386,296 (GRCm39) |
F62L |
probably damaging |
Het |
|
| Other mutations in Slc6a18 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00498:Slc6a18
|
APN |
13 |
73,819,838 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL01370:Slc6a18
|
APN |
13 |
73,815,150 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01959:Slc6a18
|
APN |
13 |
73,825,984 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02096:Slc6a18
|
APN |
13 |
73,820,870 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02147:Slc6a18
|
APN |
13 |
73,816,281 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02167:Slc6a18
|
APN |
13 |
73,814,591 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL02465:Slc6a18
|
APN |
13 |
73,825,904 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL02548:Slc6a18
|
APN |
13 |
73,818,114 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02720:Slc6a18
|
APN |
13 |
73,818,087 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL03341:Slc6a18
|
APN |
13 |
73,826,042 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0011:Slc6a18
|
UTSW |
13 |
73,813,738 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R0219:Slc6a18
|
UTSW |
13 |
73,822,751 (GRCm39) |
splice site |
probably null |
|
|
R0884:Slc6a18
|
UTSW |
13 |
73,815,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1019:Slc6a18
|
UTSW |
13 |
73,825,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1610:Slc6a18
|
UTSW |
13 |
73,816,344 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1901:Slc6a18
|
UTSW |
13 |
73,818,162 (GRCm39) |
missense |
probably benign |
0.39 |
|
R1969:Slc6a18
|
UTSW |
13 |
73,812,308 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R2014:Slc6a18
|
UTSW |
13 |
73,823,844 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2445:Slc6a18
|
UTSW |
13 |
73,814,871 (GRCm39) |
nonsense |
probably null |
|
|
R2504:Slc6a18
|
UTSW |
13 |
73,823,925 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3125:Slc6a18
|
UTSW |
13 |
73,825,921 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4084:Slc6a18
|
UTSW |
13 |
73,815,148 (GRCm39) |
missense |
probably benign |
0.39 |
|
R4571:Slc6a18
|
UTSW |
13 |
73,814,489 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R4735:Slc6a18
|
UTSW |
13 |
73,814,554 (GRCm39) |
missense |
probably benign |
0.42 |
|
R5032:Slc6a18
|
UTSW |
13 |
73,814,442 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5859:Slc6a18
|
UTSW |
13 |
73,816,278 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6258:Slc6a18
|
UTSW |
13 |
73,818,164 (GRCm39) |
nonsense |
probably null |
|
|
R6350:Slc6a18
|
UTSW |
13 |
73,826,044 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6370:Slc6a18
|
UTSW |
13 |
73,816,278 (GRCm39) |
missense |
probably benign |
0.21 |
|
R6640:Slc6a18
|
UTSW |
13 |
73,812,401 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6747:Slc6a18
|
UTSW |
13 |
73,826,110 (GRCm39) |
start gained |
probably benign |
|
|
R7267:Slc6a18
|
UTSW |
13 |
73,819,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7702:Slc6a18
|
UTSW |
13 |
73,820,915 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8039:Slc6a18
|
UTSW |
13 |
73,813,745 (GRCm39) |
missense |
probably benign |
0.39 |
|
R8423:Slc6a18
|
UTSW |
13 |
73,813,693 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8669:Slc6a18
|
UTSW |
13 |
73,812,430 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8825:Slc6a18
|
UTSW |
13 |
73,813,751 (GRCm39) |
missense |
probably null |
0.01 |
|
R9023:Slc6a18
|
UTSW |
13 |
73,823,889 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9031:Slc6a18
|
UTSW |
13 |
73,819,822 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R9589:Slc6a18
|
UTSW |
13 |
73,816,323 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
Z1177:Slc6a18
|
UTSW |
13 |
73,825,979 (GRCm39) |
missense |
probably benign |
0.05 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGTGGCCCTGGTTTCCTAG -3'
(R):5'- TGGTTCACAGGTAGAAATTACTTCCC -3'
Sequencing Primer
(F):5'- GCCCTGGTTTCCTAGGGACATC -3'
(R):5'- ACAGGTAGAAATTACTTCCCCTTTC -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation