Incidental Mutation 'IGL02064:Slc6a21'
ID |
185563 |
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 # |
IGL02064
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
44926937-44938422 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 44935883 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 38
(I38N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000082476
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085364]
[ENSMUST00000210861]
|
AlphaFold |
A0A1B0GSD2 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000085364
AA Change: I38N
PolyPhen 2
Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000082476 Gene: ENSMUSG00000070568 AA Change: I38N
Domain | Start | End | E-Value | Type |
Pfam:SNF
|
1 |
306 |
8.3e-37 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000176276
AA Change: I363N
PolyPhen 2
Score 0.490 (Sensitivity: 0.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000135707 Gene: ENSMUSG00000070568 AA Change: I363N
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: I70N
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210733
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000210861
AA Change: I363N
PolyPhen 2
Score 0.652 (Sensitivity: 0.87; Specificity: 0.91)
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl2fm3 |
T |
C |
3: 59,784,463 (GRCm39) |
L312P |
probably damaging |
Het |
Acap2 |
A |
C |
16: 30,946,146 (GRCm39) |
W284G |
probably damaging |
Het |
Acsf3 |
T |
C |
8: 123,506,986 (GRCm39) |
L93P |
possibly damaging |
Het |
Agbl2 |
G |
T |
2: 90,614,368 (GRCm39) |
|
probably benign |
Het |
Arap3 |
C |
T |
18: 38,124,754 (GRCm39) |
G242D |
probably damaging |
Het |
Asxl3 |
G |
A |
18: 22,657,401 (GRCm39) |
V1804I |
possibly damaging |
Het |
Bnc1 |
C |
A |
7: 81,623,251 (GRCm39) |
V659L |
probably benign |
Het |
Brd8 |
C |
T |
18: 34,735,780 (GRCm39) |
S899N |
probably damaging |
Het |
Car9 |
A |
G |
4: 43,507,363 (GRCm39) |
E103G |
probably benign |
Het |
Chrm4 |
A |
G |
2: 91,758,176 (GRCm39) |
T195A |
probably damaging |
Het |
Cldn10 |
T |
C |
14: 119,092,424 (GRCm39) |
I8T |
probably damaging |
Het |
Col12a1 |
G |
A |
9: 79,599,654 (GRCm39) |
S833F |
probably benign |
Het |
Cryba2 |
T |
A |
1: 74,929,720 (GRCm39) |
D139V |
possibly damaging |
Het |
Emp1 |
T |
A |
6: 135,354,210 (GRCm39) |
M1K |
probably null |
Het |
Entrep3 |
C |
T |
3: 89,095,903 (GRCm39) |
R545* |
probably null |
Het |
Exosc4 |
C |
A |
15: 76,213,836 (GRCm39) |
A220E |
probably damaging |
Het |
Fryl |
A |
G |
5: 73,282,112 (GRCm39) |
|
probably benign |
Het |
Grid2 |
C |
T |
6: 64,040,919 (GRCm39) |
T287I |
probably benign |
Het |
Grifin |
C |
T |
5: 140,550,494 (GRCm39) |
A7T |
probably damaging |
Het |
Gzmg |
T |
C |
14: 56,394,798 (GRCm39) |
K157E |
probably benign |
Het |
Kcnq2 |
A |
T |
2: 180,750,819 (GRCm39) |
I340N |
probably damaging |
Het |
Klrb1 |
T |
A |
6: 128,687,600 (GRCm39) |
H98L |
probably benign |
Het |
Krt90 |
T |
C |
15: 101,471,088 (GRCm39) |
H58R |
possibly damaging |
Het |
Krtap5-2 |
C |
A |
7: 141,729,468 (GRCm39) |
G71C |
unknown |
Het |
Krtap7-1 |
A |
T |
16: 89,305,011 (GRCm39) |
M47K |
probably benign |
Het |
Lmntd1 |
T |
A |
6: 145,373,002 (GRCm39) |
|
probably null |
Het |
Ly6g2 |
A |
G |
15: 75,093,505 (GRCm39) |
|
probably benign |
Het |
Musk |
A |
G |
4: 58,286,128 (GRCm39) |
N6S |
possibly damaging |
Het |
Or2aj4 |
A |
G |
16: 19,385,298 (GRCm39) |
C112R |
probably damaging |
Het |
Or51a39 |
A |
G |
7: 102,362,808 (GRCm39) |
F271L |
probably damaging |
Het |
Or56a42-ps1 |
A |
T |
7: 104,776,241 (GRCm39) |
F89Y |
possibly damaging |
Het |
Or5p58 |
T |
G |
7: 107,694,454 (GRCm39) |
T108P |
probably benign |
Het |
Or8c15 |
T |
A |
9: 38,120,874 (GRCm39) |
I122N |
probably damaging |
Het |
Pcdh19 |
A |
G |
X: 132,586,719 (GRCm39) |
M432T |
probably benign |
Het |
Prdm1 |
A |
G |
10: 44,317,338 (GRCm39) |
F495S |
probably damaging |
Het |
Prkar2a |
T |
C |
9: 108,610,403 (GRCm39) |
Y211H |
possibly damaging |
Het |
Ralgapa1 |
C |
A |
12: 55,754,862 (GRCm39) |
G1143V |
probably damaging |
Het |
Rbbp7 |
A |
G |
X: 161,552,783 (GRCm39) |
|
probably null |
Het |
Scel |
C |
A |
14: 103,770,762 (GRCm39) |
H65Q |
probably damaging |
Het |
Sec24d |
T |
C |
3: 123,137,463 (GRCm39) |
|
probably benign |
Het |
Sfswap |
C |
A |
5: 129,637,860 (GRCm39) |
T839N |
probably benign |
Het |
Slc15a1 |
T |
C |
14: 121,699,911 (GRCm39) |
I636V |
possibly damaging |
Het |
Slc15a1 |
G |
T |
14: 121,699,886 (GRCm39) |
P644H |
probably benign |
Het |
Sucla2 |
C |
T |
14: 73,816,913 (GRCm39) |
Q218* |
probably null |
Het |
Tbc1d14 |
A |
T |
5: 36,665,019 (GRCm39) |
L237* |
probably null |
Het |
Trpm7 |
C |
T |
2: 126,639,863 (GRCm39) |
E1578K |
probably damaging |
Het |
Ttc17 |
G |
A |
2: 94,161,012 (GRCm39) |
T896I |
probably damaging |
Het |
Virma |
A |
G |
4: 11,513,163 (GRCm39) |
D339G |
possibly damaging |
Het |
Vmn2r54 |
T |
A |
7: 12,349,533 (GRCm39) |
Y683F |
probably benign |
Het |
Xrra1 |
T |
A |
7: 99,563,411 (GRCm39) |
L466Q |
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 |
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 |
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 |
2014-05-07 |