Incidental Mutation 'R6390:Slc6a21'
| ID |
515726 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc6a21
|
| Ensembl Gene |
ENSMUSG00000070568 |
| Gene Name |
solute carrier family 6 member 21 |
| Synonyms |
1700039E15Rik |
| MMRRC Submission |
044539-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R6390 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
44926937-44938422 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 44936426 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 135
(M135L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000082476
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085364]
[ENSMUST00000210861]
|
| AlphaFold |
A0A1B0GSD2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000085364
AA Change: M135L
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000082476
Gene: ENSMUSG00000070568
AA Change: M135L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SNF
|
1 |
306 |
8.3e-37 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209477
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209886
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000210207
AA Change: M167L
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210733
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210861
AA Change: M460L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Meta Mutation Damage Score |
0.1968 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.4%
|
| Validation Efficiency |
100% (29/29) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atg9a |
G |
T |
1: 75,164,625 (GRCm39) |
P113Q |
probably damaging |
Het |
| Ccdc150 |
A |
G |
1: 54,407,176 (GRCm39) |
D1073G |
probably benign |
Het |
| Cd8a |
A |
G |
6: 71,350,913 (GRCm39) |
Y126C |
probably damaging |
Het |
| Cdca8 |
A |
G |
4: 124,830,168 (GRCm39) |
M68T |
probably damaging |
Het |
| Cyp2d26 |
G |
A |
15: 82,676,825 (GRCm39) |
P174S |
possibly damaging |
Het |
| Dnai3 |
A |
G |
3: 145,801,143 (GRCm39) |
L105P |
probably damaging |
Het |
| Esco1 |
T |
G |
18: 10,567,528 (GRCm39) |
N311H |
probably damaging |
Het |
| Evx1 |
A |
G |
6: 52,292,842 (GRCm39) |
M183V |
probably benign |
Het |
| Fam111a |
T |
G |
19: 12,565,524 (GRCm39) |
Y424* |
probably null |
Het |
| Fat4 |
T |
C |
3: 39,034,529 (GRCm39) |
I2727T |
probably damaging |
Het |
| Ggt6 |
T |
A |
11: 72,327,437 (GRCm39) |
Y107N |
possibly damaging |
Het |
| Habp2 |
G |
C |
19: 56,295,255 (GRCm39) |
E49Q |
possibly damaging |
Het |
| Hibadh |
A |
C |
6: 52,533,474 (GRCm39) |
L214R |
probably damaging |
Het |
| Ift57 |
T |
G |
16: 49,582,836 (GRCm39) |
|
probably null |
Het |
| Irak4 |
T |
C |
15: 94,459,367 (GRCm39) |
S328P |
probably damaging |
Het |
| Krtap6-2 |
A |
T |
16: 89,216,834 (GRCm39) |
Y44* |
probably null |
Het |
| Lrrc46 |
T |
C |
11: 96,931,757 (GRCm39) |
T22A |
probably damaging |
Het |
| Muc2 |
G |
T |
7: 141,305,883 (GRCm39) |
V230L |
probably damaging |
Het |
| Ncan |
T |
C |
8: 70,567,899 (GRCm39) |
D71G |
probably benign |
Het |
| Nsd2 |
T |
C |
5: 34,038,525 (GRCm39) |
S779P |
probably damaging |
Het |
| Rps6ka5 |
G |
T |
12: 100,537,251 (GRCm39) |
T493K |
probably damaging |
Het |
| Sprtn |
A |
G |
8: 125,629,958 (GRCm39) |
N417S |
probably benign |
Het |
| Trim61 |
T |
A |
8: 65,466,842 (GRCm39) |
M140L |
probably benign |
Het |
| Vars1 |
C |
A |
17: 35,234,615 (GRCm39) |
A1148E |
probably benign |
Het |
| Vmn2r106 |
C |
T |
17: 20,488,725 (GRCm39) |
C558Y |
probably damaging |
Het |
| Vmn2r112 |
T |
C |
17: 22,824,230 (GRCm39) |
V495A |
probably benign |
Het |
| Vmn2r117 |
A |
T |
17: 23,679,088 (GRCm39) |
V712E |
possibly damaging |
Het |
| Wdfy4 |
T |
C |
14: 32,826,051 (GRCm39) |
D1200G |
probably damaging |
Het |
| Zbtb6 |
A |
T |
2: 37,318,690 (GRCm39) |
S413T |
probably benign |
Het |
| Zp2 |
G |
T |
7: 119,740,453 (GRCm39) |
N170K |
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 |
|
R3498:Slc6a21
|
UTSW |
7 |
44,930,266 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- GAAAACGCTGGGTGTCACAG -3'
(R):5'- GGCACACTGGAGTTTGTGAG -3'
Sequencing Primer
(F):5'- GGTGTCACAGTTCTACCCATGAAAG -3'
(R):5'- TGGGATGCTTTGCAAAGG -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation