Incidental Mutation 'IGL01526:Slc6a21'
ID |
89564 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Slc6a21
|
Ensembl Gene |
ENSMUSG00000070568 |
Gene Name |
solute carrier family 6 member 21 |
Synonyms |
1700039E15Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.065)
|
Stock # |
IGL01526
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
44926937-44938422 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 44937220 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Serine
at position 575
(I575S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147890
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085364]
[ENSMUST00000210861]
|
AlphaFold |
A0A1B0GSD2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000085364
AA Change: I250S
PolyPhen 2
Score 0.260 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000082476 Gene: ENSMUSG00000070568 AA Change: I250S
Domain | Start | End | E-Value | Type |
Pfam:SNF
|
1 |
306 |
8.3e-37 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176276
AA Change: I575S
PolyPhen 2
Score 0.340 (Sensitivity: 0.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000135707 Gene: ENSMUSG00000070568 AA Change: I575S
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 |
unknown
Transcript: ENSMUST00000210207
AA Change: I282S
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210733
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000210861
AA Change: I575S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1500002C15Rik |
G |
T |
4: 155,818,628 (GRCm39) |
|
probably benign |
Het |
4933430I17Rik |
G |
T |
4: 62,450,858 (GRCm39) |
R107L |
possibly damaging |
Het |
Acvr1 |
A |
T |
2: 58,348,997 (GRCm39) |
D388E |
probably benign |
Het |
Art3 |
T |
C |
5: 92,562,199 (GRCm39) |
S354P |
probably damaging |
Het |
Bpnt1 |
C |
A |
1: 185,077,591 (GRCm39) |
S102* |
probably null |
Het |
Ces1a |
G |
T |
8: 93,771,726 (GRCm39) |
P24T |
probably damaging |
Het |
Cfap65 |
A |
T |
1: 74,950,237 (GRCm39) |
S1171T |
probably damaging |
Het |
Cracd |
T |
A |
5: 77,005,478 (GRCm39) |
M613K |
unknown |
Het |
Csn2 |
T |
C |
5: 87,842,838 (GRCm39) |
H47R |
possibly damaging |
Het |
Gm14496 |
T |
A |
2: 181,637,458 (GRCm39) |
D177E |
probably benign |
Het |
Hmbs |
A |
G |
9: 44,250,845 (GRCm39) |
V126A |
possibly damaging |
Het |
Ica1l |
A |
G |
1: 60,054,916 (GRCm39) |
M105T |
probably damaging |
Het |
Morc2a |
G |
A |
11: 3,600,428 (GRCm39) |
E17K |
probably benign |
Het |
Mroh8 |
T |
C |
2: 157,080,232 (GRCm39) |
|
probably benign |
Het |
Mroh9 |
G |
T |
1: 162,883,172 (GRCm39) |
L436I |
probably damaging |
Het |
Nup54 |
T |
C |
5: 92,565,334 (GRCm39) |
D461G |
probably benign |
Het |
Or10ag2 |
A |
T |
2: 87,249,319 (GRCm39) |
D309V |
probably damaging |
Het |
Or2t45 |
A |
G |
11: 58,669,123 (GRCm39) |
T57A |
probably benign |
Het |
Pcid2 |
G |
A |
8: 13,135,319 (GRCm39) |
|
probably benign |
Het |
Ppp1r3b |
G |
T |
8: 35,851,872 (GRCm39) |
R237L |
probably benign |
Het |
Prdm11 |
A |
G |
2: 92,843,102 (GRCm39) |
V119A |
probably damaging |
Het |
S100a7l2 |
T |
A |
3: 90,995,612 (GRCm39) |
|
probably benign |
Het |
Serpina5 |
T |
A |
12: 104,068,149 (GRCm39) |
V70E |
probably damaging |
Het |
Skap2 |
C |
T |
6: 51,884,894 (GRCm39) |
D249N |
probably benign |
Het |
Slc22a29 |
A |
T |
19: 8,184,542 (GRCm39) |
|
probably benign |
Het |
Slc4a1ap |
C |
A |
5: 31,685,571 (GRCm39) |
T283K |
possibly damaging |
Het |
Smpd1 |
T |
G |
7: 105,203,982 (GRCm39) |
W82G |
probably benign |
Het |
Snx14 |
T |
A |
9: 88,263,553 (GRCm39) |
M897L |
probably damaging |
Het |
Tjp1 |
A |
G |
7: 64,972,406 (GRCm39) |
V586A |
probably damaging |
Het |
Tmc8 |
T |
C |
11: 117,682,910 (GRCm39) |
|
probably benign |
Het |
Trim34a |
A |
G |
7: 103,909,706 (GRCm39) |
Y298C |
probably damaging |
Het |
Ube3c |
T |
C |
5: 29,872,960 (GRCm39) |
V1000A |
probably damaging |
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 |
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 |
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 |
|
Posted On |
2013-12-03 |