Incidental Mutation 'R1453:Slc37a3'
ID |
161600 |
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 |
039508-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1453 (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 T
at 39343877 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Histidine
at position 12
(L12H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144636
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090243]
[ENSMUST00000200771]
[ENSMUST00000200961]
[ENSMUST00000200969]
[ENSMUST00000201448]
[ENSMUST00000202204]
[ENSMUST00000202400]
[ENSMUST00000202749]
[ENSMUST00000202952]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000090243
AA Change: L12H
PolyPhen 2
Score 0.592 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000087709 Gene: ENSMUSG00000029924 AA Change: L12H
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 damaging
Transcript: ENSMUST00000200771
AA Change: L12H
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000143953 Gene: ENSMUSG00000029924 AA Change: L12H
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
36 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000200961
AA Change: L12H
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000144562 Gene: ENSMUSG00000029924 AA Change: L12H
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
36 |
N/A |
INTRINSIC |
transmembrane domain
|
82 |
104 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000200969
AA Change: L12H
PolyPhen 2
Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000144244 Gene: ENSMUSG00000029924 AA Change: L12H
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
36 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000201448
AA Change: L12H
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000144059 Gene: ENSMUSG00000029924 AA Change: L12H
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
36 |
N/A |
INTRINSIC |
transmembrane domain
|
82 |
104 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000202204
AA Change: L12H
PolyPhen 2
Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000144316 Gene: ENSMUSG00000029924 AA Change: L12H
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
36 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000202400
AA Change: L12H
PolyPhen 2
Score 0.750 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000144557 Gene: ENSMUSG00000029924 AA Change: L12H
Domain | Start | End | E-Value | Type |
Pfam:MFS_1
|
12 |
173 |
2.3e-9 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000202749
AA Change: L12H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000144636 Gene: ENSMUSG00000029924 AA Change: L12H
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
36 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000202952
AA Change: L12H
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202928
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202785
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.5%
- 20x: 90.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca4 |
A |
G |
3: 121,862,763 (GRCm39) |
I240M |
probably benign |
Het |
Abcd3 |
A |
T |
3: 121,558,710 (GRCm39) |
D595E |
probably damaging |
Het |
Akap9 |
A |
G |
5: 4,025,614 (GRCm39) |
|
probably null |
Het |
Arpc1b |
A |
G |
5: 145,062,555 (GRCm39) |
D223G |
probably damaging |
Het |
Atp6ap1l |
T |
A |
13: 91,046,866 (GRCm39) |
T104S |
probably benign |
Het |
BC005537 |
T |
C |
13: 24,989,969 (GRCm39) |
|
probably null |
Het |
Ccdc9b |
T |
C |
2: 118,587,903 (GRCm39) |
D477G |
possibly damaging |
Het |
Chrdl2 |
T |
C |
7: 99,666,197 (GRCm39) |
V39A |
possibly damaging |
Het |
Clmp |
C |
G |
9: 40,693,737 (GRCm39) |
S318W |
probably damaging |
Het |
Cmas |
T |
C |
6: 142,717,853 (GRCm39) |
S323P |
probably damaging |
Het |
Cnksr3 |
T |
C |
10: 7,079,132 (GRCm39) |
T80A |
probably benign |
Het |
Ddx25 |
T |
C |
9: 35,453,298 (GRCm39) |
Y484C |
probably damaging |
Het |
Dennd6b |
A |
G |
15: 89,073,075 (GRCm39) |
V154A |
probably damaging |
Het |
Dmxl1 |
G |
A |
18: 49,990,316 (GRCm39) |
V252I |
probably benign |
Het |
Dnah2 |
T |
C |
11: 69,341,876 (GRCm39) |
Y3003C |
probably damaging |
Het |
Dnhd1 |
T |
C |
7: 105,370,480 (GRCm39) |
|
probably null |
Het |
Dppa4 |
G |
A |
16: 48,111,596 (GRCm39) |
A194T |
probably damaging |
Het |
Dst |
T |
C |
1: 34,228,527 (GRCm39) |
V2218A |
possibly damaging |
Het |
Dytn |
G |
C |
1: 63,673,032 (GRCm39) |
S457C |
probably damaging |
Het |
Fndc3a |
G |
A |
14: 72,777,768 (GRCm39) |
Q1101* |
probably null |
Het |
Focad |
A |
T |
4: 88,275,679 (GRCm39) |
|
probably null |
Het |
Gas2l2 |
T |
A |
11: 83,312,907 (GRCm39) |
T802S |
probably benign |
Het |
Gm5093 |
A |
G |
17: 46,750,622 (GRCm39) |
F135S |
probably benign |
Het |
Gmeb1 |
A |
T |
4: 131,969,759 (GRCm39) |
D71E |
possibly damaging |
Het |
Heatr5b |
G |
A |
17: 79,124,992 (GRCm39) |
R587C |
probably damaging |
Het |
Jakmip2 |
T |
C |
18: 43,692,279 (GRCm39) |
|
probably null |
Het |
Mier3 |
T |
A |
13: 111,841,778 (GRCm39) |
L111Q |
probably damaging |
Het |
Mrgprg |
G |
A |
7: 143,318,779 (GRCm39) |
S111F |
possibly damaging |
Het |
Mybl1 |
T |
C |
1: 9,741,901 (GRCm39) |
K677R |
probably benign |
Het |
Nhsl1 |
T |
C |
10: 18,407,323 (GRCm39) |
S1486P |
probably damaging |
Het |
Nup133 |
A |
G |
8: 124,642,114 (GRCm39) |
I783T |
probably benign |
Het |
Or10d4c |
A |
T |
9: 39,558,459 (GRCm39) |
T146S |
probably benign |
Het |
Or5an1c |
A |
T |
19: 12,218,956 (GRCm39) |
I23K |
probably benign |
Het |
Pigr |
A |
T |
1: 130,769,281 (GRCm39) |
I31L |
probably benign |
Het |
Plaat5 |
A |
G |
19: 7,616,999 (GRCm39) |
|
probably benign |
Het |
Pole2 |
G |
A |
12: 69,254,703 (GRCm39) |
L381F |
probably benign |
Het |
Pramel6 |
T |
A |
2: 87,338,917 (GRCm39) |
M39K |
possibly damaging |
Het |
Rapgef6 |
T |
A |
11: 54,530,553 (GRCm39) |
|
probably null |
Het |
Rinl |
T |
C |
7: 28,496,329 (GRCm39) |
C437R |
probably damaging |
Het |
Shank1 |
T |
C |
7: 43,965,499 (GRCm39) |
S192P |
unknown |
Het |
Slc2a10 |
A |
T |
2: 165,359,570 (GRCm39) |
Y478F |
probably damaging |
Het |
Slit2 |
T |
A |
5: 48,414,393 (GRCm39) |
C970S |
possibly damaging |
Het |
Stard9 |
T |
C |
2: 120,496,857 (GRCm39) |
S119P |
probably damaging |
Het |
Stim2 |
C |
A |
5: 54,273,451 (GRCm39) |
D568E |
probably damaging |
Het |
Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
Traf3 |
A |
G |
12: 111,221,757 (GRCm39) |
E306G |
probably damaging |
Het |
Trappc9 |
G |
A |
15: 72,897,816 (GRCm39) |
R377W |
probably damaging |
Het |
Ttll6 |
T |
C |
11: 96,049,714 (GRCm39) |
S811P |
possibly damaging |
Het |
Ubr7 |
A |
G |
12: 102,735,437 (GRCm39) |
K299E |
probably benign |
Het |
Urb1 |
C |
A |
16: 90,593,380 (GRCm39) |
V251L |
probably damaging |
Het |
Vps13b |
G |
T |
15: 35,422,590 (GRCm39) |
E183D |
probably damaging |
Het |
Zfp35 |
T |
G |
18: 24,136,557 (GRCm39) |
Y300* |
probably null |
Het |
Zfp414 |
C |
T |
17: 33,849,012 (GRCm39) |
T33I |
probably damaging |
Het |
Zfp938 |
C |
T |
10: 82,063,632 (GRCm39) |
|
probably null |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AAAGCCATCTATTTCACTGGAAGCCTGT -3'
(R):5'- AGGAGTCAATTATTTGTTGCCTGGTCAT -3'
Sequencing Primer
(F):5'- TCACTGGAAGCCTGTGTCAAC -3'
(R):5'- cacccgactgctcttcc -3'
|
Posted On |
2014-03-14 |