Incidental Mutation 'IGL02815:Slc38a6'
ID |
360758 |
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 # |
IGL02815
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
73333553-73400823 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 73338979 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 95
(H95Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114870
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058139]
[ENSMUST00000101313]
[ENSMUST00000122920]
[ENSMUST00000126488]
[ENSMUST00000140523]
[ENSMUST00000153941]
|
AlphaFold |
G3UVW3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000058139
AA Change: H95Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000057153 Gene: ENSMUSG00000044712 AA Change: H95Q
Domain | Start | End | E-Value | Type |
Pfam:Aa_trans
|
44 |
122 |
9.5e-14 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000101313
AA Change: H40Q
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000098871 Gene: ENSMUSG00000044712 AA Change: H40Q
Domain | Start | End | E-Value | Type |
Pfam:Aa_trans
|
1 |
69 |
4.3e-13 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000122920
AA Change: H95Q
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000124386 Gene: ENSMUSG00000044712 AA Change: H95Q
Domain | Start | End | E-Value | Type |
Pfam:Aa_trans
|
44 |
113 |
3.5e-14 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000126488
AA Change: H95Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000118374 Gene: ENSMUSG00000044712 AA Change: H95Q
Domain | Start | End | E-Value | Type |
Pfam:Aa_trans
|
44 |
122 |
9.5e-14 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000140523
AA Change: H95Q
PolyPhen 2
Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000120810 Gene: ENSMUSG00000044712 AA Change: H95Q
Domain | Start | End | E-Value | Type |
Pfam:Aa_trans
|
44 |
452 |
2.5e-77 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000153941
AA Change: H95Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000114870 Gene: ENSMUSG00000044712 AA Change: H95Q
Domain | Start | End | E-Value | Type |
Pfam:Aa_trans
|
44 |
124 |
1.6e-15 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810009J06Rik |
A |
T |
6: 40,941,729 (GRCm39) |
I3F |
probably benign |
Het |
Alms1 |
G |
A |
6: 85,644,939 (GRCm39) |
|
probably null |
Het |
Ap3m1 |
T |
C |
14: 21,086,750 (GRCm39) |
D393G |
probably damaging |
Het |
Arfgef3 |
T |
A |
10: 18,528,299 (GRCm39) |
I363F |
probably damaging |
Het |
Col19a1 |
T |
A |
1: 24,324,332 (GRCm39) |
|
probably null |
Het |
Csnk2a1 |
G |
T |
2: 152,116,005 (GRCm39) |
|
probably benign |
Het |
Dnmt3a |
G |
A |
12: 3,954,226 (GRCm39) |
|
probably null |
Het |
Emc2 |
T |
A |
15: 43,371,326 (GRCm39) |
|
probably benign |
Het |
Epm2aip1 |
T |
C |
9: 111,102,628 (GRCm39) |
S534P |
probably benign |
Het |
Farp2 |
A |
C |
1: 93,488,007 (GRCm39) |
N78T |
probably damaging |
Het |
Fut8 |
T |
A |
12: 77,411,857 (GRCm39) |
N106K |
probably benign |
Het |
Gc |
A |
G |
5: 89,605,518 (GRCm39) |
|
probably null |
Het |
Gemin5 |
T |
C |
11: 58,037,235 (GRCm39) |
Y660C |
probably damaging |
Het |
Gfpt2 |
T |
A |
11: 49,714,084 (GRCm39) |
D280E |
possibly damaging |
Het |
Il16 |
T |
C |
7: 83,300,249 (GRCm39) |
E348G |
probably damaging |
Het |
Ints1 |
G |
A |
5: 139,741,037 (GRCm39) |
T1874M |
probably damaging |
Het |
Klrb1b |
A |
G |
6: 128,797,937 (GRCm39) |
L52P |
probably damaging |
Het |
Lamb3 |
A |
T |
1: 193,007,863 (GRCm39) |
|
probably benign |
Het |
Med17 |
A |
C |
9: 15,173,563 (GRCm39) |
M637R |
probably damaging |
Het |
Myo18b |
A |
G |
5: 112,957,601 (GRCm39) |
L1454P |
probably damaging |
Het |
Mysm1 |
A |
T |
4: 94,845,285 (GRCm39) |
|
probably null |
Het |
Naip5 |
T |
C |
13: 100,359,239 (GRCm39) |
T666A |
probably benign |
Het |
Nbas |
T |
A |
12: 13,360,267 (GRCm39) |
S348T |
probably damaging |
Het |
Pex1 |
A |
T |
5: 3,686,797 (GRCm39) |
K1226M |
probably damaging |
Het |
Pi4ka |
A |
G |
16: 17,176,753 (GRCm39) |
|
probably benign |
Het |
Pigr |
T |
A |
1: 130,769,558 (GRCm39) |
V123D |
probably damaging |
Het |
Pilra |
G |
A |
5: 137,829,567 (GRCm39) |
P163S |
probably benign |
Het |
Plekha4 |
T |
C |
7: 45,187,836 (GRCm39) |
S303P |
probably damaging |
Het |
Prrc2b |
A |
G |
2: 32,094,265 (GRCm39) |
E549G |
probably damaging |
Het |
Ptchd3 |
C |
T |
11: 121,732,430 (GRCm39) |
S440L |
probably benign |
Het |
Rock2 |
A |
G |
12: 17,016,702 (GRCm39) |
|
probably benign |
Het |
Scn1a |
A |
G |
2: 66,155,202 (GRCm39) |
S586P |
probably damaging |
Het |
Spata31d1d |
A |
T |
13: 59,874,678 (GRCm39) |
N952K |
possibly damaging |
Het |
Stard10 |
T |
A |
7: 100,993,205 (GRCm39) |
C254S |
probably benign |
Het |
Taar8a |
A |
T |
10: 23,953,278 (GRCm39) |
Y294F |
probably benign |
Het |
Tm7sf3 |
A |
T |
6: 146,514,971 (GRCm39) |
|
probably null |
Het |
Tnfrsf8 |
A |
T |
4: 145,025,348 (GRCm39) |
V75D |
possibly damaging |
Het |
Tor1aip1 |
C |
T |
1: 155,911,662 (GRCm39) |
R107H |
probably damaging |
Het |
Trpc4 |
C |
T |
3: 54,206,695 (GRCm39) |
|
probably benign |
Het |
Unc13c |
A |
G |
9: 73,447,545 (GRCm39) |
L1885P |
possibly damaging |
Het |
Vmn2r9 |
T |
C |
5: 108,990,856 (GRCm39) |
D835G |
possibly damaging |
Het |
Zfp462 |
A |
T |
4: 55,051,303 (GRCm39) |
I1172F |
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 |
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 |
2015-12-18 |