Incidental Mutation 'R0668:Them5'
| ID |
62088 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Them5
|
| Ensembl Gene |
ENSMUSG00000028148 |
| Gene Name |
thioesterase superfamily member 5 |
| Synonyms |
1110007B02Rik, 1110038F21Rik |
| MMRRC Submission |
038853-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.050)
|
| Stock # |
R0668 (G1)
|
| Quality Score |
149 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
94249406-94254659 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 94251720 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 110
(K110N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142808
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029794]
[ENSMUST00000198083]
|
| AlphaFold |
Q9CQJ0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029794
AA Change: K110N
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000029794
Gene: ENSMUSG00000028148
AA Change: K110N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:4HBT
|
154 |
229 |
2e-7 |
PFAM |
|
low complexity region
|
237 |
248 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198083
AA Change: K110N
PolyPhen 2
Score 0.108 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000142808
Gene: ENSMUSG00000028148
AA Change: K110N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:4HBT
|
154 |
229 |
7.4e-5 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 96.6%
- 20x: 91.4%
|
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
G |
T |
1: 71,302,773 (GRCm39) |
Q2149K |
probably damaging |
Het |
| Aifm1 |
T |
C |
X: 47,583,668 (GRCm39) |
Q210R |
probably benign |
Het |
| Arhgef1 |
A |
G |
7: 24,607,345 (GRCm39) |
N31D |
possibly damaging |
Het |
| Asic5 |
T |
A |
3: 81,928,308 (GRCm39) |
Y424N |
probably damaging |
Het |
| Bltp3a |
A |
T |
17: 28,114,913 (GRCm39) |
I1408F |
probably benign |
Het |
| Cfb |
G |
T |
17: 35,076,079 (GRCm39) |
Q1176K |
probably benign |
Het |
| Chdh |
A |
G |
14: 29,757,837 (GRCm39) |
H447R |
probably damaging |
Het |
| Cpd |
A |
C |
11: 76,675,224 (GRCm39) |
V1299G |
probably damaging |
Het |
| Dnase1l3 |
A |
G |
14: 7,968,086 (GRCm38) |
|
probably null |
Het |
| Dnhd1 |
A |
G |
7: 105,344,958 (GRCm39) |
T2101A |
probably benign |
Het |
| Efcab3 |
A |
T |
11: 104,611,318 (GRCm39) |
I387F |
probably benign |
Het |
| Fchsd2 |
A |
G |
7: 100,846,127 (GRCm39) |
K188E |
possibly damaging |
Het |
| Gm10549 |
A |
G |
18: 33,603,903 (GRCm39) |
T129A |
unknown |
Het |
| Jph1 |
T |
A |
1: 17,161,895 (GRCm39) |
T256S |
probably damaging |
Het |
| Kcnma1 |
A |
G |
14: 23,417,563 (GRCm39) |
Y768H |
probably damaging |
Het |
| Lcmt1 |
G |
A |
7: 123,002,094 (GRCm39) |
D120N |
probably damaging |
Het |
| Ly6g6d |
G |
A |
17: 35,290,715 (GRCm39) |
H72Y |
probably damaging |
Het |
| Myom3 |
A |
G |
4: 135,492,237 (GRCm39) |
D127G |
possibly damaging |
Het |
| Or10c1 |
T |
A |
17: 37,522,535 (GRCm39) |
I70F |
probably damaging |
Het |
| Pira13 |
G |
A |
7: 3,825,699 (GRCm39) |
T390I |
probably damaging |
Het |
| Sart1 |
T |
C |
19: 5,434,284 (GRCm39) |
Y249C |
probably damaging |
Het |
| Scin |
A |
G |
12: 40,130,948 (GRCm39) |
Y322H |
probably damaging |
Het |
| Slc44a3 |
T |
C |
3: 121,303,852 (GRCm39) |
T295A |
probably damaging |
Het |
| Slc4a5 |
T |
A |
6: 83,248,054 (GRCm39) |
L535Q |
probably damaging |
Het |
| Vmn1r32 |
T |
A |
6: 66,530,644 (GRCm39) |
Q44L |
possibly damaging |
Het |
| Vmn2r93 |
T |
A |
17: 18,518,667 (GRCm39) |
M42K |
probably benign |
Het |
| Zfp143 |
A |
T |
7: 109,660,481 (GRCm39) |
|
probably benign |
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 |
|
IGL00813:Them5
|
APN |
3 |
94,250,595 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02100:Them5
|
APN |
3 |
94,251,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTTTGTTTCCCCAAGACACAGCTCC -3'
(R):5'- AGCTGACACCCAGTTTCTTGTGCC -3'
Sequencing Primer
(F):5'- gacacagctcctctgaagac -3'
(R):5'- CTTAGAGACTCCAGAACCTGGTG -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation