Incidental Mutation 'R8360:Tecrl'
ID |
652137 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tecrl
|
Ensembl Gene |
ENSMUSG00000049537 |
Gene Name |
trans-2,3-enoyl-CoA reductase-like |
Synonyms |
Srd5a2l2, D330017N19Rik |
MMRRC Submission |
067734-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.060)
|
Stock # |
R8360 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
83425992-83503042 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 83448764 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 160
(Y160H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000062122
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053543]
|
AlphaFold |
Q8BFZ1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000053543
AA Change: Y160H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000062122 Gene: ENSMUSG00000049537 AA Change: Y160H
Domain | Start | End | E-Value | Type |
PDB:2DZJ|A
|
53 |
135 |
1e-17 |
PDB |
Blast:UBQ
|
59 |
135 |
2e-7 |
BLAST |
transmembrane domain
|
139 |
161 |
N/A |
INTRINSIC |
Pfam:Steroid_dh
|
208 |
361 |
3.8e-22 |
PFAM |
|
Predicted Effect |
|
SMART Domains |
Protein: ENSMUSP00000115144 Gene: ENSMUSG00000049537 AA Change: Y120H
Domain | Start | End | E-Value | Type |
PDB:2DZJ|A
|
39 |
93 |
1e-11 |
PDB |
transmembrane domain
|
100 |
122 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
Validation Efficiency |
96% (43/45) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd17b |
C |
T |
19: 21,655,888 (GRCm39) |
Q57* |
probably null |
Het |
Acad8 |
C |
T |
9: 26,890,352 (GRCm39) |
A288T |
possibly damaging |
Het |
Adamtsl3 |
G |
A |
7: 82,197,187 (GRCm39) |
C711Y |
probably damaging |
Het |
Ahcyl2 |
C |
A |
6: 29,768,869 (GRCm39) |
D111E |
probably benign |
Het |
Asxl3 |
T |
C |
18: 22,649,174 (GRCm39) |
F388L |
probably benign |
Het |
Bcr |
T |
A |
10: 74,981,271 (GRCm39) |
S697T |
probably damaging |
Het |
Catspere2 |
G |
A |
1: 177,842,724 (GRCm39) |
V50M |
possibly damaging |
Het |
Dgka |
C |
A |
10: 128,563,997 (GRCm39) |
V451F |
probably damaging |
Het |
Dnajc2 |
A |
T |
5: 21,962,705 (GRCm39) |
C617S |
unknown |
Het |
Erich3 |
C |
A |
3: 154,469,991 (GRCm39) |
T1481K |
unknown |
Het |
Golm2 |
A |
T |
2: 121,697,632 (GRCm39) |
|
probably benign |
Het |
Hdac2 |
T |
A |
10: 36,874,059 (GRCm39) |
D396E |
probably benign |
Het |
Hmgcs2 |
A |
T |
3: 98,204,724 (GRCm39) |
D294V |
possibly damaging |
Het |
Hnf1a |
A |
G |
5: 115,091,391 (GRCm39) |
V434A |
possibly damaging |
Het |
Il4ra |
T |
C |
7: 125,169,138 (GRCm39) |
L130P |
probably damaging |
Het |
Inpp5j |
T |
C |
11: 3,449,767 (GRCm39) |
K672E |
probably damaging |
Het |
Kif16b |
G |
A |
2: 142,553,777 (GRCm39) |
A1007V |
probably benign |
Het |
Kif26b |
T |
C |
1: 178,743,938 (GRCm39) |
S1345P |
probably benign |
Het |
Lrrc28 |
A |
T |
7: 67,290,909 (GRCm39) |
D37E |
probably benign |
Het |
Mlx |
G |
T |
11: 100,978,140 (GRCm39) |
|
probably benign |
Het |
Muc16 |
T |
C |
9: 18,436,554 (GRCm39) |
H7878R |
probably benign |
Het |
Mybpc1 |
C |
A |
10: 88,409,359 (GRCm39) |
E32* |
probably null |
Het |
Nebl |
C |
T |
2: 17,465,298 (GRCm39) |
V18M |
probably benign |
Het |
Nhsl3 |
C |
T |
4: 129,117,995 (GRCm39) |
R268Q |
possibly damaging |
Het |
Nlrp3 |
T |
C |
11: 59,440,229 (GRCm39) |
V602A |
probably benign |
Het |
Npepps |
G |
A |
11: 97,120,665 (GRCm39) |
P532S |
probably benign |
Het |
Or7g12 |
T |
A |
9: 18,900,139 (GRCm39) |
M285K |
probably benign |
Het |
Or8g19 |
C |
T |
9: 39,055,761 (GRCm39) |
R122* |
probably null |
Het |
Or8k53 |
T |
C |
2: 86,177,668 (GRCm39) |
I147M |
possibly damaging |
Het |
Pfdn1 |
G |
A |
18: 36,584,214 (GRCm39) |
T40M |
probably benign |
Het |
Pkd2 |
G |
T |
5: 104,607,653 (GRCm39) |
E51* |
probably null |
Het |
Prss40 |
T |
A |
1: 34,599,876 (GRCm39) |
H37L |
probably benign |
Het |
Rab11fip1 |
A |
T |
8: 27,642,374 (GRCm39) |
C808* |
probably null |
Het |
Rab3gap2 |
A |
T |
1: 184,999,270 (GRCm39) |
|
probably benign |
Het |
Sall3 |
C |
T |
18: 81,017,232 (GRCm39) |
R232H |
probably benign |
Het |
Sbk3 |
A |
G |
7: 4,970,707 (GRCm39) |
F221L |
probably damaging |
Het |
Sema7a |
T |
G |
9: 57,862,974 (GRCm39) |
|
probably benign |
Het |
Serpina3b |
C |
A |
12: 104,104,962 (GRCm39) |
N379K |
probably benign |
Het |
Ssbp4 |
A |
G |
8: 71,052,039 (GRCm39) |
L208P |
probably benign |
Het |
Stxbp5 |
C |
T |
10: 9,688,003 (GRCm39) |
|
probably null |
Het |
Tnc |
T |
C |
4: 63,885,511 (GRCm39) |
I1773V |
probably benign |
Het |
Ush2a |
A |
G |
1: 188,198,468 (GRCm39) |
T1511A |
probably benign |
Het |
Utp15 |
T |
C |
13: 98,391,499 (GRCm39) |
N246S |
probably damaging |
Het |
Vmn1r49 |
C |
T |
6: 90,049,991 (GRCm39) |
A4T |
probably benign |
Het |
Vmn2r57 |
A |
T |
7: 41,049,640 (GRCm39) |
I703N |
probably damaging |
Het |
Wdr93 |
A |
G |
7: 79,398,974 (GRCm39) |
D36G |
probably damaging |
Het |
Zfp334 |
A |
G |
2: 165,225,278 (GRCm39) |
I8T |
probably benign |
Het |
|
Other mutations in Tecrl |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01981:Tecrl
|
APN |
5 |
83,442,453 (GRCm39) |
missense |
probably benign |
|
IGL02067:Tecrl
|
APN |
5 |
83,432,122 (GRCm39) |
missense |
probably benign |
0.05 |
IGL02111:Tecrl
|
APN |
5 |
83,502,639 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02391:Tecrl
|
APN |
5 |
83,502,674 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02860:Tecrl
|
APN |
5 |
83,502,844 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03079:Tecrl
|
APN |
5 |
83,442,447 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL03109:Tecrl
|
APN |
5 |
83,457,156 (GRCm39) |
intron |
probably benign |
|
gaudenz
|
UTSW |
5 |
83,457,049 (GRCm39) |
critical splice donor site |
probably null |
|
Whoopie
|
UTSW |
5 |
83,442,453 (GRCm39) |
missense |
probably damaging |
1.00 |
BB004:Tecrl
|
UTSW |
5 |
83,502,666 (GRCm39) |
missense |
probably damaging |
1.00 |
BB014:Tecrl
|
UTSW |
5 |
83,502,666 (GRCm39) |
missense |
probably damaging |
1.00 |
R0095:Tecrl
|
UTSW |
5 |
83,442,417 (GRCm39) |
splice site |
probably benign |
|
R0347:Tecrl
|
UTSW |
5 |
83,442,479 (GRCm39) |
missense |
probably damaging |
1.00 |
R0372:Tecrl
|
UTSW |
5 |
83,442,506 (GRCm39) |
missense |
probably damaging |
1.00 |
R0403:Tecrl
|
UTSW |
5 |
83,502,605 (GRCm39) |
splice site |
probably benign |
|
R0426:Tecrl
|
UTSW |
5 |
83,502,610 (GRCm39) |
splice site |
probably benign |
|
R0597:Tecrl
|
UTSW |
5 |
83,502,775 (GRCm39) |
nonsense |
probably null |
|
R1607:Tecrl
|
UTSW |
5 |
83,428,355 (GRCm39) |
splice site |
probably null |
|
R1771:Tecrl
|
UTSW |
5 |
83,439,134 (GRCm39) |
missense |
probably damaging |
1.00 |
R1800:Tecrl
|
UTSW |
5 |
83,427,077 (GRCm39) |
missense |
probably damaging |
1.00 |
R1815:Tecrl
|
UTSW |
5 |
83,427,081 (GRCm39) |
missense |
probably benign |
0.01 |
R1869:Tecrl
|
UTSW |
5 |
83,502,706 (GRCm39) |
missense |
probably benign |
0.00 |
R1870:Tecrl
|
UTSW |
5 |
83,502,706 (GRCm39) |
missense |
probably benign |
0.00 |
R4296:Tecrl
|
UTSW |
5 |
83,461,174 (GRCm39) |
nonsense |
probably null |
|
R4471:Tecrl
|
UTSW |
5 |
83,461,134 (GRCm39) |
missense |
probably benign |
|
R6281:Tecrl
|
UTSW |
5 |
83,442,453 (GRCm39) |
missense |
probably damaging |
1.00 |
R6343:Tecrl
|
UTSW |
5 |
83,442,447 (GRCm39) |
missense |
probably damaging |
0.96 |
R6866:Tecrl
|
UTSW |
5 |
83,461,161 (GRCm39) |
missense |
probably damaging |
1.00 |
R6948:Tecrl
|
UTSW |
5 |
83,457,097 (GRCm39) |
missense |
probably benign |
|
R6971:Tecrl
|
UTSW |
5 |
83,502,649 (GRCm39) |
missense |
possibly damaging |
0.58 |
R6981:Tecrl
|
UTSW |
5 |
83,502,768 (GRCm39) |
missense |
possibly damaging |
0.83 |
R7246:Tecrl
|
UTSW |
5 |
83,427,182 (GRCm39) |
missense |
probably damaging |
0.99 |
R7282:Tecrl
|
UTSW |
5 |
83,502,754 (GRCm39) |
missense |
probably benign |
0.26 |
R7444:Tecrl
|
UTSW |
5 |
83,502,915 (GRCm39) |
unclassified |
probably benign |
|
R7900:Tecrl
|
UTSW |
5 |
83,427,188 (GRCm39) |
missense |
probably benign |
0.04 |
R7927:Tecrl
|
UTSW |
5 |
83,502,666 (GRCm39) |
missense |
probably damaging |
1.00 |
R8246:Tecrl
|
UTSW |
5 |
83,427,156 (GRCm39) |
missense |
probably damaging |
0.99 |
R8466:Tecrl
|
UTSW |
5 |
83,428,367 (GRCm39) |
nonsense |
probably null |
|
R8947:Tecrl
|
UTSW |
5 |
83,461,154 (GRCm39) |
missense |
probably benign |
0.10 |
R8949:Tecrl
|
UTSW |
5 |
83,461,154 (GRCm39) |
missense |
probably benign |
0.10 |
R9009:Tecrl
|
UTSW |
5 |
83,432,121 (GRCm39) |
missense |
probably damaging |
0.96 |
R9115:Tecrl
|
UTSW |
5 |
83,427,906 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9182:Tecrl
|
UTSW |
5 |
83,457,049 (GRCm39) |
critical splice donor site |
probably null |
|
R9320:Tecrl
|
UTSW |
5 |
83,428,422 (GRCm39) |
missense |
possibly damaging |
0.67 |
X0019:Tecrl
|
UTSW |
5 |
83,486,099 (GRCm39) |
missense |
probably benign |
0.32 |
X0024:Tecrl
|
UTSW |
5 |
83,486,099 (GRCm39) |
missense |
probably benign |
0.32 |
X0034:Tecrl
|
UTSW |
5 |
83,486,099 (GRCm39) |
missense |
probably benign |
0.32 |
X0035:Tecrl
|
UTSW |
5 |
83,486,099 (GRCm39) |
missense |
probably benign |
0.32 |
X0036:Tecrl
|
UTSW |
5 |
83,486,099 (GRCm39) |
missense |
probably benign |
0.32 |
X0037:Tecrl
|
UTSW |
5 |
83,486,099 (GRCm39) |
missense |
probably benign |
0.32 |
X0038:Tecrl
|
UTSW |
5 |
83,486,099 (GRCm39) |
missense |
probably benign |
0.32 |
X0039:Tecrl
|
UTSW |
5 |
83,486,099 (GRCm39) |
missense |
probably benign |
0.32 |
X0040:Tecrl
|
UTSW |
5 |
83,486,099 (GRCm39) |
missense |
probably benign |
0.32 |
X0052:Tecrl
|
UTSW |
5 |
83,486,099 (GRCm39) |
missense |
probably benign |
0.32 |
X0053:Tecrl
|
UTSW |
5 |
83,486,099 (GRCm39) |
missense |
probably benign |
0.32 |
X0054:Tecrl
|
UTSW |
5 |
83,486,099 (GRCm39) |
missense |
probably benign |
0.32 |
X0058:Tecrl
|
UTSW |
5 |
83,486,099 (GRCm39) |
missense |
probably benign |
0.32 |
X0060:Tecrl
|
UTSW |
5 |
83,486,099 (GRCm39) |
missense |
probably benign |
0.32 |
X0061:Tecrl
|
UTSW |
5 |
83,486,099 (GRCm39) |
missense |
probably benign |
0.32 |
X0062:Tecrl
|
UTSW |
5 |
83,486,099 (GRCm39) |
missense |
probably benign |
0.32 |
X0063:Tecrl
|
UTSW |
5 |
83,486,099 (GRCm39) |
missense |
probably benign |
0.32 |
|
Predicted Primers |
PCR Primer
(F):5'- GCATTGGTCCAAAAGTTAGATTTGC -3'
(R):5'- GATTTATTTGCAGCAGTATCTAGCC -3'
Sequencing Primer
(F):5'- TTGCTTTAAATTCTGATGCCTTTAAC -3'
(R):5'- CAGCAGTATCTAGCCTGTTTTG -3'
|
Posted On |
2020-10-20 |