Incidental Mutation 'IGL03142:Slc37a3'
| ID |
410738 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc37a3
|
| Ensembl Gene |
ENSMUSG00000029924 |
| Gene Name |
solute carrier family 37 (glycerol-3-phosphate transporter), member 3 |
| Synonyms |
2610507O21Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03142
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
39311707-39354609 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 39336919 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144636
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090243]
[ENSMUST00000200771]
[ENSMUST00000200961]
[ENSMUST00000200969]
[ENSMUST00000201448]
[ENSMUST00000202204]
[ENSMUST00000202400]
[ENSMUST00000202749]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090243
AA Change: T86A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000087709
Gene: ENSMUSG00000029924
AA Change: T86A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
23 |
420 |
3.8e-37 |
PFAM |
|
Pfam:Sugar_tr
|
27 |
262 |
2.5e-8 |
PFAM |
|
transmembrane domain
|
423 |
445 |
N/A |
INTRINSIC |
|
transmembrane domain
|
455 |
477 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000200771
|
| SMART Domains |
Protein: ENSMUSP00000143953
Gene: ENSMUSG00000029924
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
36 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200961
AA Change: T86A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000144562
Gene: ENSMUSG00000029924
AA Change: T86A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
36 |
N/A |
INTRINSIC |
|
transmembrane domain
|
82 |
104 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200969
|
| SMART Domains |
Protein: ENSMUSP00000144244
Gene: ENSMUSG00000029924
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
36 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201448
AA Change: T86A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000144059
Gene: ENSMUSG00000029924
AA Change: T86A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
36 |
N/A |
INTRINSIC |
|
transmembrane domain
|
82 |
104 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202204
AA Change: T86A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000144316
Gene: ENSMUSG00000029924
AA Change: T86A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
36 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202400
AA Change: T86A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000144557
Gene: ENSMUSG00000029924
AA Change: T86A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
12 |
173 |
2.3e-9 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000202749
|
| SMART Domains |
Protein: ENSMUSP00000144636
Gene: ENSMUSG00000029924
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
36 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ccdc88c |
T |
C |
12: 100,913,457 (GRCm39) |
S523G |
probably damaging |
Het |
| Ccnb1 |
A |
T |
13: 100,920,039 (GRCm39) |
D157E |
probably damaging |
Het |
| Cep43 |
T |
A |
17: 8,411,041 (GRCm39) |
S331R |
probably damaging |
Het |
| Cfap70 |
T |
C |
14: 20,447,283 (GRCm39) |
T1055A |
probably damaging |
Het |
| Fn1 |
C |
A |
1: 71,676,455 (GRCm39) |
R592L |
probably damaging |
Het |
| Frmpd4 |
T |
A |
X: 166,262,479 (GRCm39) |
D550V |
possibly damaging |
Het |
| Gcm2 |
A |
G |
13: 41,256,711 (GRCm39) |
V346A |
probably benign |
Het |
| Gm10112 |
C |
T |
X: 110,209,673 (GRCm39) |
T4I |
probably damaging |
Het |
| Gm3115 |
T |
C |
14: 4,084,302 (GRCm38) |
|
probably benign |
Het |
| Has2 |
A |
T |
15: 56,545,491 (GRCm39) |
I37N |
possibly damaging |
Het |
| Hmgn3 |
A |
G |
9: 83,028,482 (GRCm39) |
|
probably benign |
Het |
| Klhl29 |
T |
A |
12: 5,187,603 (GRCm39) |
N254Y |
probably damaging |
Het |
| Kti12 |
A |
G |
4: 108,705,362 (GRCm39) |
Y92C |
probably damaging |
Het |
| Lyset |
G |
A |
12: 102,710,933 (GRCm39) |
S52N |
probably damaging |
Het |
| Mgat5 |
A |
C |
1: 127,339,960 (GRCm39) |
Q447P |
probably damaging |
Het |
| Mlh3 |
C |
A |
12: 85,297,075 (GRCm39) |
|
probably null |
Het |
| Mrpl45 |
T |
C |
11: 97,206,751 (GRCm39) |
W18R |
probably benign |
Het |
| Mtor |
A |
G |
4: 148,538,356 (GRCm39) |
D138G |
probably benign |
Het |
| Mycbp2 |
C |
T |
14: 103,536,212 (GRCm39) |
C246Y |
probably damaging |
Het |
| Mylk4 |
A |
T |
13: 32,904,582 (GRCm39) |
V415E |
probably damaging |
Het |
| Olfm3 |
A |
T |
3: 114,890,679 (GRCm39) |
Q124L |
probably damaging |
Het |
| Or4d11 |
A |
T |
19: 12,013,752 (GRCm39) |
M118K |
probably damaging |
Het |
| Pam |
C |
T |
1: 97,822,111 (GRCm39) |
G298R |
probably damaging |
Het |
| Pappa2 |
A |
C |
1: 158,682,501 (GRCm39) |
I849R |
probably damaging |
Het |
| Pde3a |
T |
A |
6: 141,438,025 (GRCm39) |
D1031E |
probably benign |
Het |
| Pik3cb |
A |
T |
9: 98,947,615 (GRCm39) |
S521T |
probably benign |
Het |
| Pkn1 |
A |
G |
8: 84,397,652 (GRCm39) |
F824L |
possibly damaging |
Het |
| Pspn |
C |
T |
17: 57,306,566 (GRCm39) |
R121Q |
probably benign |
Het |
| Ric1 |
A |
G |
19: 29,578,380 (GRCm39) |
D1195G |
possibly damaging |
Het |
| Sin3b |
A |
G |
8: 73,471,196 (GRCm39) |
D381G |
probably damaging |
Het |
| Smtn |
T |
A |
11: 3,482,601 (GRCm39) |
K124* |
probably null |
Het |
| Tbce |
A |
G |
13: 14,194,449 (GRCm39) |
V70A |
possibly damaging |
Het |
| Tti1 |
A |
G |
2: 157,842,597 (GRCm39) |
Y811H |
probably damaging |
Het |
| Uggt2 |
T |
C |
14: 119,235,603 (GRCm39) |
Y1424C |
probably damaging |
Het |
| Upf1 |
A |
G |
8: 70,785,977 (GRCm39) |
V994A |
probably benign |
Het |
| Vmn2r121 |
T |
C |
X: 123,042,635 (GRCm39) |
D174G |
possibly damaging |
Het |
|
| Other mutations in Slc37a3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01585:Slc37a3
|
APN |
6 |
39,314,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02447:Slc37a3
|
APN |
6 |
39,314,129 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03017:Slc37a3
|
APN |
6 |
39,326,315 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL03164:Slc37a3
|
APN |
6 |
39,322,237 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0240:Slc37a3
|
UTSW |
6 |
39,314,172 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0551:Slc37a3
|
UTSW |
6 |
39,329,688 (GRCm39) |
unclassified |
probably benign |
|
|
R1453:Slc37a3
|
UTSW |
6 |
39,343,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1866:Slc37a3
|
UTSW |
6 |
39,336,902 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2242:Slc37a3
|
UTSW |
6 |
39,315,739 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4410:Slc37a3
|
UTSW |
6 |
39,315,747 (GRCm39) |
missense |
probably benign |
|
|
R4784:Slc37a3
|
UTSW |
6 |
39,314,157 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4983:Slc37a3
|
UTSW |
6 |
39,329,651 (GRCm39) |
nonsense |
probably null |
|
|
R5543:Slc37a3
|
UTSW |
6 |
39,331,960 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6309:Slc37a3
|
UTSW |
6 |
39,334,394 (GRCm39) |
makesense |
probably null |
|
|
R7849:Slc37a3
|
UTSW |
6 |
39,341,517 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R7872:Slc37a3
|
UTSW |
6 |
39,324,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7962:Slc37a3
|
UTSW |
6 |
39,324,325 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R8062:Slc37a3
|
UTSW |
6 |
39,341,530 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8544:Slc37a3
|
UTSW |
6 |
39,321,297 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8811:Slc37a3
|
UTSW |
6 |
39,322,274 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9431:Slc37a3
|
UTSW |
6 |
39,324,363 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9764:Slc37a3
|
UTSW |
6 |
39,322,844 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Slc37a3
|
UTSW |
6 |
39,331,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Slc37a3
|
UTSW |
6 |
39,327,010 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
| Posted On |
2016-08-02 |
Incidental Mutation