Incidental Mutation 'R6571:Slc6a21'
ID |
526236 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc6a21
|
Ensembl Gene |
ENSMUSG00000070568 |
Gene Name |
solute carrier family 6 member 21 |
Synonyms |
1700039E15Rik |
MMRRC Submission |
044695-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.065)
|
Stock # |
R6571 (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 G
at 44930303 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Arginine
at position 234
(K234R)
|
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 |
noncoding transcript
Transcript: ENSMUST00000209477
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209886
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000210207
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000210861
AA Change: K234R
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
Validation Efficiency |
94% (31/33) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsl6 |
A |
G |
11: 54,216,390 (GRCm39) |
I161V |
possibly damaging |
Het |
Adamts12 |
T |
C |
15: 11,065,187 (GRCm39) |
F24S |
probably benign |
Het |
Bche |
G |
T |
3: 73,608,824 (GRCm39) |
Q201K |
probably benign |
Het |
Camsap1 |
A |
T |
2: 25,829,512 (GRCm39) |
D757E |
possibly damaging |
Het |
Crebbp |
C |
T |
16: 3,937,670 (GRCm39) |
A698T |
possibly damaging |
Het |
Dab2ip |
T |
C |
2: 35,602,902 (GRCm39) |
S399P |
probably damaging |
Het |
Fbxo40 |
A |
T |
16: 36,789,668 (GRCm39) |
C481S |
probably damaging |
Het |
Fn1 |
T |
A |
1: 71,665,349 (GRCm39) |
T923S |
probably damaging |
Het |
Gm11437 |
T |
C |
11: 84,047,038 (GRCm39) |
D147G |
probably benign |
Het |
Gm5592 |
A |
G |
7: 40,937,999 (GRCm39) |
E427G |
probably damaging |
Het |
Gm6401 |
T |
A |
14: 41,787,452 (GRCm39) |
I125F |
probably damaging |
Het |
Hmcn1 |
A |
T |
1: 150,491,189 (GRCm39) |
|
probably null |
Het |
Inpp4a |
T |
C |
1: 37,426,839 (GRCm39) |
M600T |
probably damaging |
Het |
Itgb6 |
T |
C |
2: 60,458,800 (GRCm39) |
E374G |
probably damaging |
Het |
Lrba |
A |
C |
3: 86,267,367 (GRCm39) |
S1686R |
probably damaging |
Het |
Map3k4 |
T |
C |
17: 12,461,579 (GRCm39) |
D1200G |
possibly damaging |
Het |
Mmp25 |
T |
C |
17: 23,858,870 (GRCm39) |
H227R |
probably benign |
Het |
Or6c38 |
A |
C |
10: 128,928,990 (GRCm39) |
N284K |
probably damaging |
Het |
Papss2 |
G |
A |
19: 32,629,342 (GRCm39) |
|
probably null |
Het |
Rasal2 |
T |
A |
1: 156,988,749 (GRCm39) |
R718S |
possibly damaging |
Het |
Relch |
A |
G |
1: 105,620,707 (GRCm39) |
D394G |
probably benign |
Het |
Rngtt |
T |
A |
4: 33,379,413 (GRCm39) |
D438E |
probably damaging |
Het |
S1pr1 |
A |
G |
3: 115,505,452 (GRCm39) |
S381P |
possibly damaging |
Het |
Septin8 |
A |
G |
11: 53,427,990 (GRCm39) |
E268G |
probably damaging |
Het |
Smg1 |
A |
G |
7: 117,783,737 (GRCm39) |
|
probably benign |
Het |
Sntg1 |
T |
C |
1: 8,433,752 (GRCm39) |
|
probably benign |
Het |
Spag5 |
G |
T |
11: 78,212,095 (GRCm39) |
R1041I |
probably damaging |
Het |
Spata31d1b |
A |
T |
13: 59,865,269 (GRCm39) |
M806L |
probably benign |
Het |
Tnfrsf18 |
T |
A |
4: 156,112,776 (GRCm39) |
L154* |
probably null |
Het |
Trib2 |
T |
C |
12: 15,844,060 (GRCm39) |
E194G |
probably damaging |
Het |
Vmn2r33 |
A |
G |
7: 7,566,668 (GRCm39) |
V148A |
probably benign |
Het |
Wiz |
G |
A |
17: 32,578,298 (GRCm39) |
R405W |
probably damaging |
Het |
Zfp747l1 |
T |
C |
7: 126,984,310 (GRCm39) |
|
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 |
R6390:Slc6a21
|
UTSW |
7 |
44,936,426 (GRCm39) |
missense |
probably benign |
0.02 |
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'- TAAGTGTCTGGACCTCCCTAC -3'
(R):5'- TGCGCATATTAACGTGCACG -3'
Sequencing Primer
(F):5'- TACCCTCCTCAGCAGGC -3'
(R):5'- TGCACGTGGTAAAGCCTG -3'
|
Posted On |
2018-06-22 |