Incidental Mutation 'R2242:Slc37a3'
| ID |
240693 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc37a3
|
| Ensembl Gene |
ENSMUSG00000029924 |
| Gene Name |
solute carrier family 37 (glycerol-3-phosphate transporter), member 3 |
| Synonyms |
2610507O21Rik |
| MMRRC Submission |
040242-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2242 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
39311707-39354609 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 39315739 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 446
(S446P)
|
| 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: S446P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000087709
Gene: ENSMUSG00000029924
AA Change: S446P
| 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 |
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 |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy2 |
A |
T |
13: 68,837,460 (GRCm39) |
S630T |
probably benign |
Het |
| Afap1l2 |
T |
C |
19: 56,902,900 (GRCm39) |
I760V |
possibly damaging |
Het |
| Cdc20 |
A |
G |
4: 118,290,722 (GRCm39) |
V426A |
probably benign |
Het |
| Clca3a2 |
T |
C |
3: 144,796,551 (GRCm39) |
S219G |
probably damaging |
Het |
| Corin |
A |
T |
5: 72,490,054 (GRCm39) |
D603E |
probably damaging |
Het |
| Dctn1 |
A |
G |
6: 83,176,687 (GRCm39) |
Y1205C |
probably damaging |
Het |
| Dync2h1 |
A |
T |
9: 7,037,828 (GRCm39) |
|
probably null |
Het |
| Dysf |
G |
A |
6: 84,163,491 (GRCm39) |
|
probably null |
Het |
| Eif1ad |
CGAGGAGGAGGAGGAGGAGG |
CGAGGAGGAGGAGGAGG |
19: 5,420,086 (GRCm39) |
|
probably benign |
Het |
| Fes |
T |
G |
7: 80,031,473 (GRCm39) |
E467A |
probably damaging |
Het |
| Ftsj3 |
T |
A |
11: 106,141,604 (GRCm39) |
Q548L |
probably benign |
Het |
| Gpc6 |
A |
T |
14: 117,424,199 (GRCm39) |
T96S |
probably benign |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Jarid2 |
T |
A |
13: 45,059,752 (GRCm39) |
N661K |
probably damaging |
Het |
| Lama4 |
G |
A |
10: 38,902,689 (GRCm39) |
C221Y |
probably damaging |
Het |
| Malrd1 |
T |
C |
2: 16,106,755 (GRCm39) |
C1856R |
unknown |
Het |
| Mfsd6 |
G |
T |
1: 52,748,757 (GRCm39) |
P36Q |
probably benign |
Het |
| Ofcc1 |
A |
G |
13: 40,296,263 (GRCm39) |
S524P |
probably benign |
Het |
| Or13c3 |
A |
G |
4: 52,855,769 (GRCm39) |
V248A |
probably damaging |
Het |
| Or2n1b |
A |
G |
17: 38,459,613 (GRCm39) |
I45V |
possibly damaging |
Het |
| Ripor2 |
A |
G |
13: 24,855,755 (GRCm39) |
E65G |
probably benign |
Het |
| Sardh |
A |
T |
2: 27,125,527 (GRCm39) |
V329E |
possibly damaging |
Het |
| Vmn2r57 |
T |
C |
7: 41,077,498 (GRCm39) |
T223A |
probably benign |
Het |
| Wdr47 |
A |
G |
3: 108,526,431 (GRCm39) |
D318G |
probably damaging |
Het |
| Zic4 |
C |
T |
9: 91,260,706 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGCGTCTCGTCAGCATAATC -3'
(R):5'- CTACAAGCCCCGTTCGTTTG -3'
Sequencing Primer
(F):5'- GCGTCTCGTCAGCATAATCAAATG -3'
(R):5'- GACTCAGAGTCTCATTTAGCCTAGG -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation