Incidental Mutation 'R3498:Slc6a21'
ID |
273658 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc6a21
|
Ensembl Gene |
ENSMUSG00000070568 |
Gene Name |
solute carrier family 6 member 21 |
Synonyms |
1700039E15Rik |
MMRRC Submission |
040661-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.065)
|
Stock # |
R3498 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
44926937-44938422 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 44930266 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Arginine
at position 222
(W222R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147890
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085364]
[ENSMUST00000210861]
|
AlphaFold |
A0A1B0GSD2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000085364
|
SMART Domains |
Protein: ENSMUSP00000082476 Gene: ENSMUSG00000070568
Domain | Start | End | E-Value | Type |
Pfam:SNF
|
1 |
306 |
8.3e-37 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000176276
AA Change: W222R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000135707 Gene: ENSMUSG00000070568 AA Change: W222R
Domain | Start | End | E-Value | Type |
Pfam:SNF
|
48 |
631 |
2e-103 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209477
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209886
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000210207
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000210861
AA Change: W222R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
Validation Efficiency |
100% (43/43) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A3galt2 |
T |
C |
4: 128,649,350 (GRCm39) |
F6L |
probably benign |
Het |
Aurkc |
A |
G |
7: 7,003,029 (GRCm39) |
I175V |
probably damaging |
Het |
Azi2 |
A |
G |
9: 117,878,475 (GRCm39) |
D105G |
probably damaging |
Het |
Bcat1 |
A |
G |
6: 144,965,068 (GRCm39) |
V45A |
probably damaging |
Het |
Cass4 |
C |
T |
2: 172,274,478 (GRCm39) |
P753L |
probably damaging |
Het |
Cimip3 |
AC |
A |
17: 47,744,348 (GRCm39) |
|
probably benign |
Het |
Ddx42 |
A |
G |
11: 106,122,019 (GRCm39) |
E178G |
possibly damaging |
Het |
Dmpk |
T |
C |
7: 18,820,306 (GRCm39) |
I101T |
probably damaging |
Het |
Dnah17 |
C |
T |
11: 117,971,675 (GRCm39) |
|
probably benign |
Het |
Fosb |
C |
T |
7: 19,040,557 (GRCm39) |
R161H |
probably damaging |
Het |
Gm6729 |
T |
C |
10: 86,376,582 (GRCm39) |
|
noncoding transcript |
Het |
Gnb1 |
T |
A |
4: 155,639,483 (GRCm39) |
N237K |
possibly damaging |
Het |
Gpr35 |
A |
G |
1: 92,911,113 (GRCm39) |
Y275C |
probably damaging |
Het |
Hmcn1 |
A |
T |
1: 150,480,853 (GRCm39) |
I4441N |
probably damaging |
Het |
Ighe |
G |
A |
12: 113,234,994 (GRCm39) |
Q389* |
probably null |
Het |
Kcnj11 |
T |
C |
7: 45,749,026 (GRCm39) |
D23G |
probably damaging |
Het |
Lats2 |
G |
T |
14: 57,959,923 (GRCm39) |
A191E |
possibly damaging |
Het |
Lyplal1 |
A |
G |
1: 185,820,857 (GRCm39) |
S197P |
possibly damaging |
Het |
Map4 |
G |
T |
9: 109,864,280 (GRCm39) |
V502L |
probably benign |
Het |
Mgat5 |
A |
G |
1: 127,312,571 (GRCm39) |
M237V |
possibly damaging |
Het |
Mindy4 |
A |
G |
6: 55,193,510 (GRCm39) |
R68G |
probably benign |
Het |
Nell1 |
T |
A |
7: 49,907,927 (GRCm39) |
V362E |
possibly damaging |
Het |
Or5m8 |
T |
A |
2: 85,822,774 (GRCm39) |
F204L |
probably benign |
Het |
Or6c66b |
T |
A |
10: 129,376,778 (GRCm39) |
I124N |
probably damaging |
Het |
P4ha2 |
T |
C |
11: 54,010,079 (GRCm39) |
Y279H |
probably benign |
Het |
Pcid2 |
A |
G |
8: 13,150,413 (GRCm39) |
V13A |
possibly damaging |
Het |
Polr2j |
T |
C |
5: 136,151,624 (GRCm39) |
I116T |
probably benign |
Het |
Prdm9 |
A |
G |
17: 15,783,207 (GRCm39) |
|
probably benign |
Het |
Prr5 |
T |
A |
15: 84,587,345 (GRCm39) |
V365E |
probably benign |
Het |
Ptprf |
A |
T |
4: 118,082,127 (GRCm39) |
I1037N |
probably damaging |
Het |
Ranbp17 |
GCCTGGATACTGACC |
GCC |
11: 33,169,203 (GRCm39) |
|
probably benign |
Het |
Sde2 |
T |
A |
1: 180,685,750 (GRCm39) |
C101S |
probably damaging |
Het |
Sec1 |
T |
C |
7: 45,328,663 (GRCm39) |
H128R |
probably damaging |
Het |
Serpinb6a |
A |
T |
13: 34,102,764 (GRCm39) |
M253K |
probably damaging |
Het |
Slc1a4 |
A |
T |
11: 20,263,973 (GRCm39) |
I248N |
probably damaging |
Het |
Slc22a4 |
T |
G |
11: 53,882,879 (GRCm39) |
K328N |
probably benign |
Het |
Slc24a4 |
A |
T |
12: 102,200,951 (GRCm39) |
K278N |
probably benign |
Het |
Slc7a2 |
A |
G |
8: 41,365,567 (GRCm39) |
E466G |
probably benign |
Het |
Sspo |
A |
G |
6: 48,444,914 (GRCm39) |
T2133A |
possibly damaging |
Het |
Taco1 |
A |
G |
11: 105,963,364 (GRCm39) |
M172V |
probably benign |
Het |
Tmem127 |
T |
A |
2: 127,098,040 (GRCm39) |
H36Q |
probably benign |
Het |
Tmem229b-ps |
C |
T |
10: 53,351,223 (GRCm39) |
|
noncoding transcript |
Het |
Vac14 |
A |
G |
8: 111,397,722 (GRCm39) |
D479G |
probably benign |
Het |
Vmn1r176 |
T |
A |
7: 23,534,667 (GRCm39) |
K162I |
probably benign |
Het |
|
Other mutations in Slc6a21 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00966:Slc6a21
|
APN |
7 |
44,937,668 (GRCm39) |
missense |
probably benign |
0.31 |
IGL01526:Slc6a21
|
APN |
7 |
44,937,220 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01670:Slc6a21
|
APN |
7 |
44,937,557 (GRCm39) |
missense |
possibly damaging |
0.91 |
IGL01975:Slc6a21
|
APN |
7 |
44,937,275 (GRCm39) |
missense |
probably benign |
0.28 |
IGL02064:Slc6a21
|
APN |
7 |
44,935,883 (GRCm39) |
missense |
possibly damaging |
0.71 |
IGL02441:Slc6a21
|
APN |
7 |
44,937,505 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02735:Slc6a21
|
APN |
7 |
44,936,061 (GRCm39) |
splice site |
probably benign |
|
IGL03097:Slc6a21
|
UTSW |
7 |
44,937,592 (GRCm39) |
nonsense |
probably null |
|
R0211:Slc6a21
|
UTSW |
7 |
44,937,667 (GRCm39) |
missense |
possibly damaging |
0.90 |
R0211:Slc6a21
|
UTSW |
7 |
44,937,667 (GRCm39) |
missense |
possibly damaging |
0.90 |
R0269:Slc6a21
|
UTSW |
7 |
44,936,332 (GRCm39) |
nonsense |
probably null |
|
R0336:Slc6a21
|
UTSW |
7 |
44,935,892 (GRCm39) |
missense |
probably damaging |
1.00 |
R1077:Slc6a21
|
UTSW |
7 |
44,937,626 (GRCm39) |
missense |
probably benign |
0.42 |
R1476:Slc6a21
|
UTSW |
7 |
44,922,052 (GRCm39) |
missense |
probably benign |
0.09 |
R1763:Slc6a21
|
UTSW |
7 |
44,937,158 (GRCm39) |
nonsense |
probably null |
|
R1792:Slc6a21
|
UTSW |
7 |
44,930,155 (GRCm39) |
missense |
probably benign |
0.04 |
R1796:Slc6a21
|
UTSW |
7 |
44,930,179 (GRCm39) |
missense |
probably damaging |
1.00 |
R1812:Slc6a21
|
UTSW |
7 |
44,932,371 (GRCm39) |
missense |
probably damaging |
1.00 |
R1868:Slc6a21
|
UTSW |
7 |
44,937,252 (GRCm39) |
missense |
probably benign |
0.13 |
R2121:Slc6a21
|
UTSW |
7 |
44,937,886 (GRCm39) |
missense |
probably benign |
0.04 |
R2129:Slc6a21
|
UTSW |
7 |
44,932,197 (GRCm39) |
splice site |
probably null |
|
R2294:Slc6a21
|
UTSW |
7 |
44,929,952 (GRCm39) |
missense |
possibly damaging |
0.83 |
R2295:Slc6a21
|
UTSW |
7 |
44,929,952 (GRCm39) |
missense |
possibly damaging |
0.83 |
R2409:Slc6a21
|
UTSW |
7 |
44,929,750 (GRCm39) |
missense |
probably benign |
0.15 |
R2858:Slc6a21
|
UTSW |
7 |
44,929,952 (GRCm39) |
missense |
possibly damaging |
0.83 |
R3751:Slc6a21
|
UTSW |
7 |
44,929,928 (GRCm39) |
missense |
probably benign |
|
R4297:Slc6a21
|
UTSW |
7 |
44,937,186 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4510:Slc6a21
|
UTSW |
7 |
44,936,713 (GRCm39) |
missense |
probably damaging |
1.00 |
R4511:Slc6a21
|
UTSW |
7 |
44,936,713 (GRCm39) |
missense |
probably damaging |
1.00 |
R4876:Slc6a21
|
UTSW |
7 |
44,929,535 (GRCm39) |
nonsense |
probably null |
|
R4921:Slc6a21
|
UTSW |
7 |
44,937,734 (GRCm39) |
missense |
possibly damaging |
0.53 |
R5485:Slc6a21
|
UTSW |
7 |
44,931,966 (GRCm39) |
critical splice donor site |
probably null |
|
R5559:Slc6a21
|
UTSW |
7 |
44,937,853 (GRCm39) |
missense |
possibly damaging |
0.61 |
R6305:Slc6a21
|
UTSW |
7 |
44,930,028 (GRCm39) |
missense |
possibly damaging |
0.88 |
R6390:Slc6a21
|
UTSW |
7 |
44,936,426 (GRCm39) |
missense |
probably benign |
0.02 |
R6571:Slc6a21
|
UTSW |
7 |
44,930,303 (GRCm39) |
missense |
probably damaging |
0.99 |
R6792:Slc6a21
|
UTSW |
7 |
44,929,309 (GRCm39) |
start codon destroyed |
probably null |
0.02 |
R7235:Slc6a21
|
UTSW |
7 |
44,930,182 (GRCm39) |
missense |
probably damaging |
0.99 |
R7278:Slc6a21
|
UTSW |
7 |
44,931,904 (GRCm39) |
missense |
possibly damaging |
0.84 |
R7808:Slc6a21
|
UTSW |
7 |
44,932,360 (GRCm39) |
missense |
|
|
R9047:Slc6a21
|
UTSW |
7 |
44,936,398 (GRCm39) |
missense |
|
|
R9127:Slc6a21
|
UTSW |
7 |
44,929,674 (GRCm39) |
splice site |
probably benign |
|
R9299:Slc6a21
|
UTSW |
7 |
44,937,130 (GRCm39) |
missense |
|
|
R9524:Slc6a21
|
UTSW |
7 |
44,937,785 (GRCm39) |
missense |
probably benign |
|
R9640:Slc6a21
|
UTSW |
7 |
44,937,189 (GRCm39) |
missense |
|
|
R9748:Slc6a21
|
UTSW |
7 |
44,929,941 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CCTGTGAGATGGCCTGTAAG -3'
(R):5'- ACCCAGGGTCTGTTTAGGAG -3'
Sequencing Primer
(F):5'- GCCTGTAAGTGTCTGGACCTC -3'
(R):5'- CTGCATAGTGATGGTGACCAG -3'
|
Posted On |
2015-04-02 |