Incidental Mutation 'IGL03017:Slc37a3'
| ID |
407936 |
| 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 # |
IGL03017
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
39311707-39354609 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 39326315 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 281
(I281L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000087709
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090243]
[ENSMUST00000200961]
[ENSMUST00000201448]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090243
AA Change: I281L
PolyPhen 2
Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000087709
Gene: ENSMUSG00000029924
AA Change: I281L
| 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 benign
Transcript: ENSMUST00000200961
|
| SMART Domains |
Protein: ENSMUSP00000144562
Gene: ENSMUSG00000029924
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
36 |
N/A |
INTRINSIC |
|
transmembrane domain
|
82 |
104 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201208
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201448
|
| SMART Domains |
Protein: ENSMUSP00000144059
Gene: ENSMUSG00000029924
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
36 |
N/A |
INTRINSIC |
|
transmembrane domain
|
82 |
104 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202656
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202714
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef11 |
C |
A |
3: 87,624,367 (GRCm39) |
Y519* |
probably null |
Het |
| Arhgef26 |
T |
A |
3: 62,355,702 (GRCm39) |
M758K |
possibly damaging |
Het |
| Ccdc187 |
T |
C |
2: 26,170,978 (GRCm39) |
Y500C |
probably benign |
Het |
| Cul5 |
A |
T |
9: 53,555,785 (GRCm39) |
|
probably null |
Het |
| Dnah5 |
A |
C |
15: 28,340,471 (GRCm39) |
I2293L |
possibly damaging |
Het |
| Emilin3 |
G |
A |
2: 160,750,649 (GRCm39) |
Q320* |
probably null |
Het |
| Gpr45 |
C |
T |
1: 43,071,516 (GRCm39) |
T53M |
possibly damaging |
Het |
| Hoxd3 |
T |
A |
2: 74,577,050 (GRCm39) |
M310K |
possibly damaging |
Het |
| Mtr |
A |
G |
13: 12,262,777 (GRCm39) |
|
probably null |
Het |
| Mup4 |
T |
A |
4: 59,957,890 (GRCm39) |
N171I |
probably damaging |
Het |
| Myo15b |
T |
A |
11: 115,778,743 (GRCm39) |
I1157N |
possibly damaging |
Het |
| Myo1d |
C |
T |
11: 80,492,452 (GRCm39) |
V768I |
probably benign |
Het |
| Nlrp4c |
T |
C |
7: 6,087,679 (GRCm39) |
C771R |
probably benign |
Het |
| Or1e30 |
C |
A |
11: 73,678,344 (GRCm39) |
H193Q |
probably benign |
Het |
| Patj |
G |
A |
4: 98,353,264 (GRCm39) |
|
probably benign |
Het |
| Pkp3 |
C |
A |
7: 140,663,283 (GRCm39) |
A376D |
probably benign |
Het |
| Pkp4 |
T |
C |
2: 59,096,769 (GRCm39) |
V57A |
probably benign |
Het |
| Poteg |
A |
T |
8: 27,952,069 (GRCm39) |
K232N |
probably benign |
Het |
| Psat1 |
G |
T |
19: 15,894,499 (GRCm39) |
A168E |
possibly damaging |
Het |
| Rassf8 |
T |
A |
6: 145,762,924 (GRCm39) |
|
probably null |
Het |
| Sncaip |
A |
T |
18: 53,028,009 (GRCm39) |
H466L |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,698,646 (GRCm39) |
T30A |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,617,460 (GRCm39) |
E16337G |
probably damaging |
Het |
| Usp13 |
G |
A |
3: 32,969,861 (GRCm39) |
M662I |
possibly damaging |
Het |
| Vmn2r111 |
A |
T |
17: 22,789,839 (GRCm39) |
M389K |
probably damaging |
Het |
| Vmn2r39 |
A |
C |
7: 9,017,940 (GRCm39) |
Y799D |
probably 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 |
|
IGL03142:Slc37a3
|
APN |
6 |
39,336,919 (GRCm39) |
splice site |
probably null |
|
|
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