Incidental Mutation 'IGL00432:Slc38a6'
ID |
4405 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Slc38a6
|
Ensembl Gene |
ENSMUSG00000044712 |
Gene Name |
solute carrier family 38, member 6 |
Synonyms |
EG625098 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.076)
|
Stock # |
IGL00432
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
73333553-73400823 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 73398577 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 369
(I369T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000120810
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000140523]
|
AlphaFold |
G3UVW3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000140523
AA Change: I369T
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000120810 Gene: ENSMUSG00000044712 AA Change: I369T
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 |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
AA986860 |
A |
T |
1: 130,670,573 (GRCm39) |
Q265L |
possibly damaging |
Het |
Akr1c18 |
T |
A |
13: 4,187,232 (GRCm39) |
H168L |
probably damaging |
Het |
Arid3b |
A |
G |
9: 57,741,207 (GRCm39) |
S80P |
possibly damaging |
Het |
Barhl2 |
C |
T |
5: 106,603,365 (GRCm39) |
A265T |
possibly damaging |
Het |
Brd1 |
A |
C |
15: 88,614,361 (GRCm39) |
V178G |
probably benign |
Het |
Brd2 |
C |
T |
17: 34,333,397 (GRCm39) |
R26Q |
probably damaging |
Het |
Ddr2 |
T |
C |
1: 169,825,527 (GRCm39) |
M358V |
probably benign |
Het |
Dnajc14 |
A |
G |
10: 128,642,201 (GRCm39) |
D41G |
probably damaging |
Het |
Erap1 |
T |
G |
13: 74,821,778 (GRCm39) |
V711G |
probably benign |
Het |
Gchfr |
A |
G |
2: 119,000,229 (GRCm39) |
R37G |
probably damaging |
Het |
Gm20518 |
T |
A |
16: 17,676,362 (GRCm39) |
N136I |
probably damaging |
Het |
Grm6 |
A |
T |
11: 50,754,124 (GRCm39) |
|
probably benign |
Het |
Hydin |
T |
A |
8: 111,327,884 (GRCm39) |
V4797E |
probably damaging |
Het |
Iws1 |
C |
A |
18: 32,217,741 (GRCm39) |
N448K |
probably benign |
Het |
Lin7c |
T |
C |
2: 109,726,798 (GRCm39) |
|
probably benign |
Het |
Lrrc40 |
T |
A |
3: 157,754,087 (GRCm39) |
L196Q |
probably damaging |
Het |
Lrrtm2 |
C |
T |
18: 35,346,321 (GRCm39) |
G327D |
probably benign |
Het |
Masp1 |
C |
T |
16: 23,332,601 (GRCm39) |
C78Y |
probably damaging |
Het |
Mmd |
C |
T |
11: 90,155,360 (GRCm39) |
R101W |
probably damaging |
Het |
Myo1d |
A |
G |
11: 80,492,566 (GRCm39) |
Y730H |
probably benign |
Het |
Pcdh15 |
A |
G |
10: 74,126,914 (GRCm39) |
|
probably benign |
Het |
Pglyrp4 |
G |
A |
3: 90,646,335 (GRCm39) |
V290M |
probably damaging |
Het |
Plxna2 |
G |
A |
1: 194,326,404 (GRCm39) |
V113I |
probably benign |
Het |
Prkch |
T |
A |
12: 73,749,363 (GRCm39) |
|
probably benign |
Het |
Rabgef1 |
G |
T |
5: 130,237,565 (GRCm39) |
E213* |
probably null |
Het |
Rdh16f2 |
T |
A |
10: 127,702,533 (GRCm39) |
C37S |
probably damaging |
Het |
Reln |
A |
G |
5: 22,215,125 (GRCm39) |
Y1109H |
probably damaging |
Het |
Scn7a |
A |
T |
2: 66,572,326 (GRCm39) |
L215* |
probably null |
Het |
Slc25a33 |
A |
T |
4: 149,829,376 (GRCm39) |
L261H |
probably damaging |
Het |
Slc28a3 |
A |
T |
13: 58,717,225 (GRCm39) |
|
probably null |
Het |
Tgm4 |
A |
T |
9: 122,891,447 (GRCm39) |
|
probably benign |
Het |
Tnr |
A |
G |
1: 159,688,815 (GRCm39) |
I426V |
probably benign |
Het |
Vmn1r216 |
A |
G |
13: 23,283,574 (GRCm39) |
I86V |
probably benign |
Het |
Wwc1 |
G |
A |
11: 35,735,029 (GRCm39) |
P949S |
possibly damaging |
Het |
Zfp326 |
A |
T |
5: 106,044,399 (GRCm39) |
I286F |
probably damaging |
Het |
|
Other mutations in Slc38a6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
|
R1377:Slc38a6
|
UTSW |
12 |
73,397,345 (GRCm39) |
missense |
probably damaging |
0.98 |
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 |
|
Posted On |
2012-04-20 |