Incidental Mutation 'IGL00813:Them5'
| ID |
14451 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Them5
|
| Ensembl Gene |
ENSMUSG00000028148 |
| Gene Name |
thioesterase superfamily member 5 |
| Synonyms |
1110007B02Rik, 1110038F21Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.050)
|
| Stock # |
IGL00813
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
94249406-94254659 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 94250595 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 53
(K53E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029794
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029794]
[ENSMUST00000198083]
|
| AlphaFold |
Q9CQJ0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029794
AA Change: K53E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000029794
Gene: ENSMUSG00000028148
AA Change: K53E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:4HBT
|
154 |
229 |
2e-7 |
PFAM |
|
low complexity region
|
237 |
248 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000198083
AA Change: K53E
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000142808
Gene: ENSMUSG00000028148
AA Change: K53E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:4HBT
|
154 |
229 |
7.4e-5 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knockout of this gene have abnormal mitochondria and display defects in mitochondrial respiration and in lipid metabolism. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
C |
A |
1: 71,392,921 (GRCm39) |
|
probably null |
Het |
| Aco1 |
T |
C |
4: 40,180,290 (GRCm39) |
|
probably null |
Het |
| Bloc1s5 |
T |
C |
13: 38,803,158 (GRCm39) |
N76S |
probably damaging |
Het |
| Cyp3a44 |
A |
T |
5: 145,711,157 (GRCm39) |
*505R |
probably null |
Het |
| Epor |
T |
C |
9: 21,871,887 (GRCm39) |
T253A |
possibly damaging |
Het |
| Faim |
G |
A |
9: 98,874,218 (GRCm39) |
G15R |
probably damaging |
Het |
| Hecw1 |
T |
A |
13: 14,452,961 (GRCm39) |
|
probably null |
Het |
| Hhla1 |
A |
T |
15: 65,813,810 (GRCm39) |
V209E |
probably damaging |
Het |
| Ino80d |
G |
A |
1: 63,132,462 (GRCm39) |
P67L |
probably damaging |
Het |
| Lrrc37 |
A |
C |
11: 103,505,324 (GRCm39) |
F2215V |
probably benign |
Het |
| Lysmd3 |
C |
A |
13: 81,813,361 (GRCm39) |
N76K |
probably damaging |
Het |
| Map10 |
G |
A |
8: 126,398,671 (GRCm39) |
R688Q |
probably benign |
Het |
| Mars1 |
A |
T |
10: 127,135,916 (GRCm39) |
M554K |
probably damaging |
Het |
| Mgat5 |
G |
A |
1: 127,312,543 (GRCm39) |
M227I |
probably benign |
Het |
| Nup210l |
A |
G |
3: 90,039,725 (GRCm39) |
I389V |
probably benign |
Het |
| Ppp1r16b |
A |
G |
2: 158,598,885 (GRCm39) |
K315R |
probably damaging |
Het |
| Rae1 |
A |
G |
2: 172,848,726 (GRCm39) |
D114G |
probably damaging |
Het |
| Rbms1 |
T |
C |
2: 60,628,049 (GRCm39) |
K64E |
probably damaging |
Het |
| Shox2 |
C |
A |
3: 66,882,777 (GRCm39) |
Q105H |
probably damaging |
Het |
| Simc1 |
C |
A |
13: 54,694,799 (GRCm39) |
F293L |
probably damaging |
Het |
| Slc11a1 |
A |
G |
1: 74,422,639 (GRCm39) |
I289V |
probably benign |
Het |
| Slit2 |
G |
A |
5: 48,146,493 (GRCm39) |
E95K |
possibly damaging |
Het |
| Stk32a |
T |
A |
18: 43,443,585 (GRCm39) |
V254E |
probably benign |
Het |
| Tmem67 |
T |
C |
4: 12,058,587 (GRCm39) |
|
probably benign |
Het |
| Wdr7 |
T |
A |
18: 63,868,675 (GRCm39) |
L248Q |
possibly damaging |
Het |
|
| Other mutations in Them5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00435:Them5
|
APN |
3 |
94,253,496 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL00790:Them5
|
APN |
3 |
94,250,716 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02100:Them5
|
APN |
3 |
94,251,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0668:Them5
|
UTSW |
3 |
94,251,720 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1616:Them5
|
UTSW |
3 |
94,253,567 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1782:Them5
|
UTSW |
3 |
94,251,796 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4322:Them5
|
UTSW |
3 |
94,253,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5789:Them5
|
UTSW |
3 |
94,253,908 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7853:Them5
|
UTSW |
3 |
94,250,603 (GRCm39) |
nonsense |
probably null |
|
|
R7911:Them5
|
UTSW |
3 |
94,253,496 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R8744:Them5
|
UTSW |
3 |
94,253,472 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9337:Them5
|
UTSW |
3 |
94,254,048 (GRCm39) |
missense |
unknown |
|
|
| Posted On |
2012-12-06 |
Incidental Mutation