Incidental Mutation 'R6866:Tecrl'
| ID |
535912 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tecrl
|
| Ensembl Gene |
ENSMUSG00000049537 |
| Gene Name |
trans-2,3-enoyl-CoA reductase-like |
| Synonyms |
Srd5a2l2, D330017N19Rik |
| MMRRC Submission |
044965-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R6866 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
83425992-83503042 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 83461161 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Threonine
at position 99
(P99T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000062122
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053543]
|
| AlphaFold |
Q8BFZ1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000053543
AA Change: P99T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000062122
Gene: ENSMUSG00000049537
AA Change: P99T
| 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: P84T
| 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: 99.3%
- 20x: 97.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alms1 |
A |
G |
6: 85,598,080 (GRCm39) |
T1438A |
possibly damaging |
Het |
| Als2 |
T |
A |
1: 59,250,292 (GRCm39) |
Q484L |
probably damaging |
Het |
| Apeh |
G |
A |
9: 107,969,878 (GRCm39) |
H186Y |
probably damaging |
Het |
| Bcl2l13 |
T |
A |
6: 120,839,850 (GRCm39) |
N49K |
probably benign |
Het |
| Bptf |
T |
C |
11: 106,964,406 (GRCm39) |
D1596G |
probably damaging |
Het |
| Brsk1 |
T |
C |
7: 4,709,406 (GRCm39) |
M325T |
probably damaging |
Het |
| Caly |
T |
C |
7: 139,650,532 (GRCm39) |
M137V |
probably benign |
Het |
| Cdca2 |
T |
C |
14: 67,931,115 (GRCm39) |
E526G |
possibly damaging |
Het |
| Cnga4 |
A |
G |
7: 105,056,952 (GRCm39) |
S352G |
possibly damaging |
Het |
| Cntnap5c |
A |
C |
17: 58,399,289 (GRCm39) |
T381P |
probably benign |
Het |
| Cr2 |
T |
A |
1: 194,833,999 (GRCm39) |
Y633F |
probably damaging |
Het |
| Cryba1 |
T |
C |
11: 77,610,355 (GRCm39) |
N120S |
probably benign |
Het |
| Cyfip2 |
G |
A |
11: 46,133,286 (GRCm39) |
R805* |
probably null |
Het |
| Dnah7c |
C |
A |
1: 46,696,403 (GRCm39) |
P2095Q |
probably damaging |
Het |
| Eif3k |
T |
C |
7: 28,676,651 (GRCm39) |
E110G |
possibly damaging |
Het |
| Extl2 |
T |
A |
3: 115,821,002 (GRCm39) |
M283K |
probably damaging |
Het |
| Extl2 |
A |
G |
3: 115,821,001 (GRCm39) |
M283V |
probably damaging |
Het |
| Focad |
T |
C |
4: 88,321,623 (GRCm39) |
I1658T |
probably benign |
Het |
| Fstl5 |
A |
T |
3: 76,229,532 (GRCm39) |
H111L |
probably damaging |
Het |
| Garnl3 |
A |
G |
2: 32,892,785 (GRCm39) |
|
probably null |
Het |
| Gm3633 |
T |
A |
14: 42,462,579 (GRCm39) |
|
probably benign |
Het |
| Il4i1 |
T |
A |
7: 44,485,963 (GRCm39) |
|
probably null |
Het |
| Kcnj6 |
A |
T |
16: 94,563,536 (GRCm39) |
C321S |
probably damaging |
Het |
| Kif20a |
A |
T |
18: 34,761,546 (GRCm39) |
Y313F |
probably benign |
Het |
| Kmt2d |
T |
G |
15: 98,755,274 (GRCm39) |
|
probably benign |
Het |
| Kynu |
T |
A |
2: 43,453,122 (GRCm39) |
Y48* |
probably null |
Het |
| Ly9 |
T |
C |
1: 171,432,847 (GRCm39) |
I55M |
probably damaging |
Het |
| Mgme1 |
T |
C |
2: 144,118,439 (GRCm39) |
V237A |
probably damaging |
Het |
| Mmp16 |
T |
A |
4: 17,853,800 (GRCm39) |
L27H |
probably benign |
Het |
| Mtres1 |
ACTGCACCACCT |
ACT |
10: 43,408,721 (GRCm39) |
|
probably benign |
Het |
| Myh1 |
A |
C |
11: 67,115,219 (GRCm39) |
D1918A |
probably damaging |
Het |
| Myo5a |
G |
A |
9: 75,047,970 (GRCm39) |
C266Y |
probably damaging |
Het |
| Nckap5l |
A |
G |
15: 99,324,349 (GRCm39) |
I718T |
probably benign |
Het |
| Nptx1 |
A |
G |
11: 119,437,476 (GRCm39) |
|
probably null |
Het |
| Or56a42-ps1 |
T |
A |
7: 104,775,825 (GRCm39) |
M228L |
probably benign |
Het |
| Or5k16 |
A |
G |
16: 58,736,351 (GRCm39) |
Y218H |
probably damaging |
Het |
| Or5p76 |
A |
G |
7: 108,122,377 (GRCm39) |
F260S |
probably damaging |
Het |
| Phc3 |
T |
A |
3: 30,968,680 (GRCm39) |
K783* |
probably null |
Het |
| Pkdrej |
A |
T |
15: 85,705,082 (GRCm39) |
C285S |
probably damaging |
Het |
| Pot1b |
T |
A |
17: 55,960,474 (GRCm39) |
T619S |
possibly damaging |
Het |
| Pramel32 |
T |
A |
4: 88,545,977 (GRCm39) |
D455V |
probably damaging |
Het |
| Psg21 |
A |
T |
7: 18,386,209 (GRCm39) |
V259E |
probably damaging |
Het |
| Pvr |
A |
C |
7: 19,652,555 (GRCm39) |
I120S |
probably benign |
Het |
| Rbm17 |
T |
G |
2: 11,602,901 (GRCm39) |
I68L |
probably benign |
Het |
| Rnf138 |
C |
T |
18: 21,135,199 (GRCm39) |
P28L |
probably damaging |
Het |
| Rnf207 |
C |
T |
4: 152,396,989 (GRCm39) |
C385Y |
possibly damaging |
Het |
| Serping1 |
A |
C |
2: 84,600,577 (GRCm39) |
V255G |
probably benign |
Het |
| Slc25a3 |
A |
T |
10: 90,955,567 (GRCm39) |
V91E |
probably damaging |
Het |
| Slc26a8 |
T |
C |
17: 28,857,455 (GRCm39) |
D896G |
probably benign |
Het |
| Slc27a5 |
T |
A |
7: 12,731,443 (GRCm39) |
T183S |
probably benign |
Het |
| Slc33a1 |
A |
T |
3: 63,850,744 (GRCm39) |
F527I |
probably benign |
Het |
| Sting1 |
T |
C |
18: 35,872,482 (GRCm39) |
H50R |
probably damaging |
Het |
| Strn4 |
A |
T |
7: 16,562,710 (GRCm39) |
D283V |
probably damaging |
Het |
| Sult1e1 |
G |
A |
5: 87,734,625 (GRCm39) |
T107I |
probably damaging |
Het |
| Tango6 |
G |
A |
8: 107,469,104 (GRCm39) |
|
probably null |
Het |
| Ticrr |
T |
C |
7: 79,343,705 (GRCm39) |
L1190P |
possibly damaging |
Het |
| Timm50 |
C |
T |
7: 28,005,370 (GRCm39) |
R349H |
probably damaging |
Het |
| Tjp2 |
A |
G |
19: 24,079,355 (GRCm39) |
I840T |
probably damaging |
Het |
| Tmem45a2 |
T |
A |
16: 56,867,386 (GRCm39) |
N105I |
probably damaging |
Het |
| Tsbp1 |
T |
A |
17: 34,678,935 (GRCm39) |
C216S |
possibly damaging |
Het |
| Zfp148 |
T |
A |
16: 33,288,496 (GRCm39) |
C162S |
probably damaging |
Het |
| Zfp534 |
T |
C |
4: 147,758,938 (GRCm39) |
K577R |
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 |
|
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 |
|
R8360:Tecrl
|
UTSW |
5 |
83,448,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- GCTAGAGAATGTTGCATTTTCCC -3'
(R):5'- GTAGCAGTTTCATCCAATAACCAC -3'
Sequencing Primer
(F):5'- GAATGTTGCATTTTCCCCAAATTTC -3'
(R):5'- ACCCTCCACTGCTAGTCAGC -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation