Incidental Mutation 'R6309:Slc37a3'
ID |
509729 |
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 |
044413-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6309 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
39311707-39354609 bp(-) (GRCm39) |
Type of Mutation |
makesense |
DNA Base Change (assembly) |
T to C
at 39334394 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Stop codon to Tryptophan
at position 84
(*84W)
|
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: I105M
PolyPhen 2
Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000087709 Gene: ENSMUSG00000029924 AA Change: I105M
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: 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: I105M
PolyPhen 2
Score 0.128 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000144562 Gene: ENSMUSG00000029924 AA Change: I105M
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: I105M
PolyPhen 2
Score 0.128 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000144059 Gene: ENSMUSG00000029924 AA Change: I105M
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
|
SMART Domains |
Protein: ENSMUSP00000144316 Gene: ENSMUSG00000029924
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
36 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000202400
AA Change: I105M
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000144557 Gene: ENSMUSG00000029924 AA Change: I105M
Domain | Start | End | E-Value | Type |
Pfam:MFS_1
|
12 |
173 |
2.3e-9 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000202749
AA Change: *84W
|
SMART Domains |
Protein: ENSMUSP00000144636 Gene: ENSMUSG00000029924 AA Change: *84W
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
36 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
Validation Efficiency |
92% (35/38) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg3 |
A |
G |
5: 105,117,259 (GRCm39) |
|
probably null |
Het |
Ak4 |
T |
C |
4: 101,320,859 (GRCm39) |
Y223H |
probably benign |
Het |
Cerk |
T |
C |
15: 86,040,869 (GRCm39) |
|
probably null |
Het |
Chd1l |
G |
A |
3: 97,494,483 (GRCm39) |
A399V |
probably damaging |
Het |
Col18a1 |
A |
G |
10: 76,948,576 (GRCm39) |
|
probably benign |
Het |
Cpeb3 |
T |
G |
19: 37,022,089 (GRCm39) |
I569L |
possibly damaging |
Het |
Dis3 |
A |
T |
14: 99,323,358 (GRCm39) |
N569K |
probably benign |
Het |
Erich5 |
T |
C |
15: 34,471,602 (GRCm39) |
L277P |
probably benign |
Het |
Fam171b |
T |
C |
2: 83,690,804 (GRCm39) |
S256P |
probably damaging |
Het |
Glis3 |
A |
G |
19: 28,294,761 (GRCm39) |
V679A |
probably benign |
Het |
Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
Gm8212 |
A |
G |
14: 44,438,636 (GRCm39) |
|
probably benign |
Het |
Grin2b |
T |
A |
6: 135,710,025 (GRCm39) |
T1174S |
probably benign |
Het |
Hipk2 |
T |
C |
6: 38,675,446 (GRCm39) |
Y1045C |
probably damaging |
Het |
Hsf2 |
C |
T |
10: 57,362,676 (GRCm39) |
|
probably benign |
Het |
Ighv1-4 |
G |
T |
12: 114,451,015 (GRCm39) |
A31E |
probably benign |
Het |
Il11ra1 |
A |
G |
4: 41,765,279 (GRCm39) |
K151E |
possibly damaging |
Het |
Inpp4b |
T |
A |
8: 82,768,546 (GRCm39) |
M685K |
probably damaging |
Het |
Itga4 |
T |
A |
2: 79,109,429 (GRCm39) |
D209E |
probably damaging |
Het |
L1td1 |
T |
C |
4: 98,625,328 (GRCm39) |
S508P |
probably damaging |
Het |
Lrrn3 |
G |
A |
12: 41,503,205 (GRCm39) |
R371C |
probably damaging |
Het |
Nbeal1 |
A |
G |
1: 60,277,878 (GRCm39) |
T755A |
probably benign |
Het |
Odad2 |
A |
G |
18: 7,214,617 (GRCm39) |
V728A |
probably benign |
Het |
Or10al7 |
T |
A |
17: 38,366,043 (GRCm39) |
Y138F |
probably damaging |
Het |
Or2n1 |
T |
C |
17: 38,486,410 (GRCm39) |
V145A |
probably benign |
Het |
Phf24 |
A |
G |
4: 42,933,960 (GRCm39) |
D14G |
probably damaging |
Het |
Prkd1 |
A |
T |
12: 50,441,443 (GRCm39) |
C314* |
probably null |
Het |
Rnf187 |
A |
T |
11: 58,827,986 (GRCm39) |
S155T |
possibly damaging |
Het |
Rsf1 |
G |
GACGGCGGCA |
7: 97,229,116 (GRCm39) |
|
probably benign |
Homo |
Scn10a |
A |
G |
9: 119,453,181 (GRCm39) |
I1237T |
possibly damaging |
Het |
Sec16a |
T |
C |
2: 26,328,583 (GRCm39) |
N1144S |
probably benign |
Het |
Sh3tc2 |
T |
C |
18: 62,101,081 (GRCm39) |
V58A |
probably damaging |
Het |
Trpm2 |
T |
A |
10: 77,774,202 (GRCm39) |
I466F |
probably damaging |
Het |
Vmn2r108 |
T |
A |
17: 20,691,660 (GRCm39) |
I288F |
probably damaging |
Het |
Vmn2r67 |
T |
C |
7: 84,801,124 (GRCm39) |
T271A |
probably benign |
Het |
Vsig10l |
A |
G |
7: 43,120,397 (GRCm39) |
|
probably null |
Het |
Wdr95 |
A |
G |
5: 149,504,268 (GRCm39) |
|
probably null |
Het |
Zfp960 |
T |
C |
17: 17,308,639 (GRCm39) |
I451T |
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 |
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 |
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'- CATCTGGTCAAAAGAGCATTAACTG -3'
(R):5'- CTGAAGCACTGACATTCATAGACAG -3'
Sequencing Primer
(F):5'- GTCTCTCTCCACAGTGTGATCAGAG -3'
(R):5'- TCCCAGCGTAGACTGTTA -3'
|
Posted On |
2018-04-02 |