Incidental Mutation 'IGL01083:Slc38a6'
ID |
52436 |
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: 0.064)
|
Stock # |
IGL01083
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
73333553-73400823 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 73335267 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 70
(V70A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118374
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058139]
[ENSMUST00000101313]
[ENSMUST00000116420]
[ENSMUST00000122920]
[ENSMUST00000126488]
[ENSMUST00000140523]
[ENSMUST00000153941]
[ENSMUST00000221189]
|
AlphaFold |
G3UVW3 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000058139
AA Change: V70A
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000057153 Gene: ENSMUSG00000044712 AA Change: V70A
Domain | Start | End | E-Value | Type |
Pfam:Aa_trans
|
44 |
122 |
9.5e-14 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000101313
AA Change: V15A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000098871 Gene: ENSMUSG00000044712 AA Change: V15A
Domain | Start | End | E-Value | Type |
Pfam:Aa_trans
|
1 |
69 |
4.3e-13 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000116420
|
SMART Domains |
Protein: ENSMUSP00000112121 Gene: ENSMUSG00000034442
Domain | Start | End | E-Value | Type |
Pfam:Met_10
|
191 |
412 |
4.5e-65 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000122920
AA Change: V70A
PolyPhen 2
Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000124386 Gene: ENSMUSG00000044712 AA Change: V70A
Domain | Start | End | E-Value | Type |
Pfam:Aa_trans
|
44 |
113 |
3.5e-14 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000126488
AA Change: V70A
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000118374 Gene: ENSMUSG00000044712 AA Change: V70A
Domain | Start | End | E-Value | Type |
Pfam:Aa_trans
|
44 |
122 |
9.5e-14 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000140523
AA Change: V70A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000120810 Gene: ENSMUSG00000044712 AA Change: V70A
Domain | Start | End | E-Value | Type |
Pfam:Aa_trans
|
44 |
452 |
2.5e-77 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000153941
AA Change: V70A
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000114870 Gene: ENSMUSG00000044712 AA Change: V70A
Domain | Start | End | E-Value | Type |
Pfam:Aa_trans
|
44 |
124 |
1.6e-15 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000221189
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy8 |
T |
C |
15: 64,659,191 (GRCm39) |
D533G |
probably benign |
Het |
Adgb |
A |
G |
10: 10,283,298 (GRCm39) |
V136A |
possibly damaging |
Het |
Aggf1 |
A |
G |
13: 95,492,917 (GRCm39) |
V564A |
probably damaging |
Het |
Atp1a2 |
T |
C |
1: 172,112,186 (GRCm39) |
T570A |
probably benign |
Het |
Bicdl2 |
A |
G |
17: 23,887,105 (GRCm39) |
Q464R |
probably damaging |
Het |
Cacng5 |
C |
T |
11: 107,772,531 (GRCm39) |
V106I |
probably benign |
Het |
Chd8 |
C |
A |
14: 52,458,877 (GRCm39) |
R792L |
probably damaging |
Het |
Crybg2 |
A |
T |
4: 133,802,755 (GRCm39) |
I844F |
possibly damaging |
Het |
Dock4 |
G |
A |
12: 40,838,380 (GRCm39) |
|
probably benign |
Het |
Ergic2 |
T |
C |
6: 148,096,769 (GRCm39) |
T166A |
probably benign |
Het |
Flrt2 |
A |
T |
12: 95,747,121 (GRCm39) |
R486S |
probably benign |
Het |
Flt3 |
T |
C |
5: 147,291,680 (GRCm39) |
Y590C |
probably damaging |
Het |
Fubp1 |
A |
G |
3: 151,927,871 (GRCm39) |
E441G |
probably damaging |
Het |
Gfpt1 |
A |
G |
6: 87,031,678 (GRCm39) |
S107G |
probably damaging |
Het |
Klra9 |
A |
G |
6: 130,166,729 (GRCm39) |
L45P |
possibly damaging |
Het |
Mfsd5 |
A |
G |
15: 102,189,525 (GRCm39) |
Y299C |
probably damaging |
Het |
Myo5b |
T |
A |
18: 74,866,974 (GRCm39) |
|
probably benign |
Het |
Obscn |
G |
A |
11: 58,926,919 (GRCm39) |
T5532M |
probably damaging |
Het |
Or5ac25 |
G |
A |
16: 59,182,198 (GRCm39) |
P128S |
probably damaging |
Het |
Palld |
A |
G |
8: 61,991,841 (GRCm39) |
S165P |
probably benign |
Het |
Pramel17 |
T |
A |
4: 101,692,729 (GRCm39) |
M424L |
probably benign |
Het |
Prokr1 |
A |
T |
6: 87,565,766 (GRCm39) |
H26Q |
probably benign |
Het |
Prrc2a |
G |
T |
17: 35,375,177 (GRCm39) |
R1158S |
possibly damaging |
Het |
Rasgrp1 |
A |
G |
2: 117,115,549 (GRCm39) |
W680R |
probably benign |
Het |
Ryr3 |
A |
G |
2: 112,582,191 (GRCm39) |
|
probably benign |
Het |
Sars1 |
A |
G |
3: 108,334,174 (GRCm39) |
L528P |
probably damaging |
Het |
Serpinb3b |
T |
A |
1: 107,085,473 (GRCm39) |
L89F |
possibly damaging |
Het |
Son |
G |
A |
16: 91,454,279 (GRCm39) |
E1009K |
probably damaging |
Het |
Thoc3 |
A |
C |
13: 54,615,633 (GRCm39) |
|
probably benign |
Het |
Tlk2 |
T |
A |
11: 105,112,050 (GRCm39) |
C88S |
probably benign |
Het |
Tmem182 |
T |
A |
1: 40,844,977 (GRCm39) |
F21Y |
probably damaging |
Het |
Tmem214 |
G |
A |
5: 31,033,437 (GRCm39) |
V557M |
probably benign |
Het |
Zfp507 |
T |
C |
7: 35,493,463 (GRCm39) |
T527A |
probably benign |
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 |
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 |
2013-06-21 |