Incidental Mutation 'R1377:Slc38a6'
ID |
162919 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc38a6
|
Ensembl Gene |
ENSMUSG00000044712 |
Gene Name |
solute carrier family 38, member 6 |
Synonyms |
EG625098 |
MMRRC Submission |
039441-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.064)
|
Stock # |
R1377 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
73333553-73400823 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 73397345 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 329
(I329N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000120810
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000140523]
|
AlphaFold |
G3UVW3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000140523
AA Change: I329N
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000120810 Gene: ENSMUSG00000044712 AA Change: I329N
Domain | Start | End | E-Value | Type |
Pfam:Aa_trans
|
44 |
452 |
2.5e-77 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150996
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222671
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acap2 |
A |
G |
16: 30,934,869 (GRCm39) |
V363A |
probably damaging |
Het |
Arc |
G |
A |
15: 74,544,101 (GRCm39) |
H41Y |
possibly damaging |
Het |
Atp7b |
G |
A |
8: 22,501,801 (GRCm39) |
A854V |
probably benign |
Het |
Ccng1 |
G |
A |
11: 40,642,941 (GRCm39) |
P169S |
probably benign |
Het |
Dnah8 |
A |
T |
17: 31,059,596 (GRCm39) |
K4399* |
probably null |
Het |
Dscam |
A |
G |
16: 96,573,694 (GRCm39) |
V756A |
probably damaging |
Het |
Exoc3l4 |
A |
T |
12: 111,395,104 (GRCm39) |
E574V |
probably damaging |
Het |
Fbxo46 |
T |
A |
7: 18,870,350 (GRCm39) |
V323E |
probably damaging |
Het |
Gria1 |
C |
A |
11: 57,092,002 (GRCm39) |
N163K |
probably damaging |
Het |
Has2 |
T |
C |
15: 56,545,202 (GRCm39) |
I133M |
probably damaging |
Het |
Itgal |
T |
A |
7: 126,921,089 (GRCm39) |
L750Q |
probably damaging |
Het |
Ptprk |
G |
A |
10: 28,462,022 (GRCm39) |
R1195Q |
probably benign |
Het |
Rbm15 |
T |
C |
3: 107,238,074 (GRCm39) |
T775A |
probably benign |
Het |
Rbpms2 |
ACTGCTGCTGCTGCTGC |
ACTGCTGCTGCTGCTGCTGC |
9: 65,558,948 (GRCm39) |
|
probably benign |
Het |
Sipa1l2 |
T |
C |
8: 126,218,716 (GRCm39) |
E207G |
probably damaging |
Het |
Stoml3 |
G |
A |
3: 53,415,062 (GRCm39) |
A285T |
probably benign |
Het |
Trhr2 |
C |
T |
8: 123,087,327 (GRCm39) |
V38M |
probably damaging |
Het |
Trp53bp1 |
A |
G |
2: 121,101,123 (GRCm39) |
L25P |
probably damaging |
Het |
Wdr33 |
T |
A |
18: 32,021,694 (GRCm39) |
M748K |
unknown |
Het |
Zfp454 |
T |
C |
11: 50,764,607 (GRCm39) |
Y164C |
probably damaging |
Het |
Zfp804a |
T |
C |
2: 82,088,841 (GRCm39) |
V890A |
probably benign |
Het |
Zxdc |
T |
C |
6: 90,355,885 (GRCm39) |
S465P |
probably damaging |
Het |
|
Other mutations in Slc38a6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00432:Slc38a6
|
APN |
12 |
73,398,577 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01083:Slc38a6
|
APN |
12 |
73,335,267 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL01302:Slc38a6
|
APN |
12 |
73,335,299 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02106:Slc38a6
|
APN |
12 |
73,397,320 (GRCm39) |
missense |
possibly damaging |
0.84 |
IGL02429:Slc38a6
|
APN |
12 |
73,397,342 (GRCm39) |
missense |
probably benign |
0.18 |
IGL02815:Slc38a6
|
APN |
12 |
73,338,979 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03001:Slc38a6
|
APN |
12 |
73,383,827 (GRCm39) |
missense |
probably benign |
0.03 |
IGL03167:Slc38a6
|
APN |
12 |
73,397,311 (GRCm39) |
nonsense |
probably null |
|
R0394:Slc38a6
|
UTSW |
12 |
73,399,304 (GRCm39) |
missense |
probably benign |
|
R0918:Slc38a6
|
UTSW |
12 |
73,391,559 (GRCm39) |
splice site |
probably null |
|
R1533:Slc38a6
|
UTSW |
12 |
73,391,626 (GRCm39) |
missense |
probably benign |
0.11 |
R4171:Slc38a6
|
UTSW |
12 |
73,397,326 (GRCm39) |
missense |
probably benign |
0.21 |
R4579:Slc38a6
|
UTSW |
12 |
73,335,298 (GRCm39) |
critical splice donor site |
probably null |
|
R4864:Slc38a6
|
UTSW |
12 |
73,390,424 (GRCm39) |
splice site |
probably null |
|
R5162:Slc38a6
|
UTSW |
12 |
73,376,759 (GRCm39) |
missense |
possibly damaging |
0.70 |
R5627:Slc38a6
|
UTSW |
12 |
73,390,457 (GRCm39) |
missense |
possibly damaging |
0.59 |
R6189:Slc38a6
|
UTSW |
12 |
73,356,970 (GRCm39) |
missense |
probably damaging |
1.00 |
R6302:Slc38a6
|
UTSW |
12 |
73,383,849 (GRCm39) |
missense |
probably damaging |
1.00 |
R6407:Slc38a6
|
UTSW |
12 |
73,356,949 (GRCm39) |
missense |
probably damaging |
1.00 |
R7289:Slc38a6
|
UTSW |
12 |
73,333,786 (GRCm39) |
missense |
probably benign |
|
R7462:Slc38a6
|
UTSW |
12 |
73,397,351 (GRCm39) |
missense |
probably benign |
0.15 |
R8031:Slc38a6
|
UTSW |
12 |
73,397,377 (GRCm39) |
missense |
probably benign |
0.39 |
R8074:Slc38a6
|
UTSW |
12 |
73,391,658 (GRCm39) |
missense |
possibly damaging |
0.84 |
R9091:Slc38a6
|
UTSW |
12 |
73,398,544 (GRCm39) |
missense |
probably benign |
0.01 |
R9190:Slc38a6
|
UTSW |
12 |
73,388,526 (GRCm39) |
missense |
possibly damaging |
0.84 |
R9270:Slc38a6
|
UTSW |
12 |
73,398,544 (GRCm39) |
missense |
probably benign |
0.01 |
R9406:Slc38a6
|
UTSW |
12 |
73,376,767 (GRCm39) |
nonsense |
probably null |
|
R9587:Slc38a6
|
UTSW |
12 |
73,388,513 (GRCm39) |
missense |
probably benign |
0.18 |
|
Predicted Primers |
PCR Primer
(F):5'- ATGTGCAATGGCTCAGACACCC -3'
(R):5'- GTCCGTCGAGGCTCACTGTTATTTC -3'
Sequencing Primer
(F):5'- GCATACATCTCAGGACATGCTTAG -3'
(R):5'- GAGGTCTTGGATCAATTACCTGAC -3'
|
Posted On |
2014-03-17 |