Incidental Mutation 'R0597:Tecrl'
| ID |
55112 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tecrl
|
| Ensembl Gene |
ENSMUSG00000049537 |
| Gene Name |
trans-2,3-enoyl-CoA reductase-like |
| Synonyms |
Srd5a2l2, D330017N19Rik |
| MMRRC Submission |
038786-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R0597 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
83425992-83503042 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 83502775 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 10
(K10*)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053543]
|
| AlphaFold |
Q8BFZ1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000053543
AA Change: K25*
|
| SMART Domains |
Protein: ENSMUSP00000062122
Gene: ENSMUSG00000049537
AA Change: K25*
| 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 |
probably null
Transcript: ENSMUST00000146669
AA Change: K10*
|
| SMART Domains |
Protein: ENSMUSP00000115144
Gene: ENSMUSG00000049537
AA Change: K10*
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2DZJ|A
|
39 |
93 |
1e-11 |
PDB |
|
transmembrane domain
|
100 |
122 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.9596 |
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 99.0%
- 10x: 97.4%
- 20x: 94.1%
|
| Validation Efficiency |
97% (71/73) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy10 |
T |
C |
1: 165,352,631 (GRCm39) |
|
probably null |
Het |
| Anxa11 |
T |
C |
14: 25,874,652 (GRCm39) |
I221T |
probably damaging |
Het |
| Arhgap33 |
C |
G |
7: 30,225,871 (GRCm39) |
R565P |
probably damaging |
Het |
| Bmpr2 |
T |
C |
1: 59,880,584 (GRCm39) |
|
probably benign |
Het |
| Btn2a2 |
T |
A |
13: 23,670,580 (GRCm39) |
H51L |
probably benign |
Het |
| Casz1 |
T |
C |
4: 149,028,851 (GRCm39) |
S1099P |
probably benign |
Het |
| Cnot4 |
A |
G |
6: 35,028,438 (GRCm39) |
S393P |
possibly damaging |
Het |
| Cntnap5a |
T |
C |
1: 116,112,191 (GRCm39) |
|
probably benign |
Het |
| Cobl |
T |
C |
11: 12,204,699 (GRCm39) |
T586A |
probably benign |
Het |
| Crocc |
T |
C |
4: 140,747,224 (GRCm39) |
K1528R |
probably benign |
Het |
| Crocc |
A |
G |
4: 140,744,382 (GRCm39) |
L1838P |
probably benign |
Het |
| Dact2 |
A |
G |
17: 14,417,303 (GRCm39) |
V299A |
probably benign |
Het |
| Dapk1 |
C |
A |
13: 60,909,198 (GRCm39) |
N1270K |
probably benign |
Het |
| Ddx41 |
T |
C |
13: 55,680,819 (GRCm39) |
Y375C |
probably damaging |
Het |
| Dock5 |
T |
A |
14: 68,022,383 (GRCm39) |
|
probably null |
Het |
| Dyrk4 |
T |
G |
6: 126,863,612 (GRCm39) |
|
probably null |
Het |
| Eno1b |
T |
C |
18: 48,180,806 (GRCm39) |
I328T |
probably benign |
Het |
| Fam210b |
A |
G |
2: 172,187,773 (GRCm39) |
|
probably benign |
Het |
| Fbxl13 |
A |
G |
5: 21,819,712 (GRCm39) |
I229T |
probably benign |
Het |
| Fbxo39 |
A |
G |
11: 72,207,747 (GRCm39) |
D33G |
probably damaging |
Het |
| Fbxw11 |
A |
G |
11: 32,670,496 (GRCm39) |
E120G |
probably damaging |
Het |
| Fbxw2 |
A |
T |
2: 34,701,032 (GRCm39) |
L261Q |
probably damaging |
Het |
| Gm5800 |
A |
C |
14: 51,953,461 (GRCm39) |
N51K |
probably benign |
Het |
| Gm6899 |
A |
G |
11: 26,543,768 (GRCm39) |
|
probably benign |
Het |
| Gpx8 |
T |
C |
13: 113,182,035 (GRCm39) |
T133A |
possibly damaging |
Het |
| Grin3a |
C |
T |
4: 49,665,351 (GRCm39) |
V1095M |
probably damaging |
Het |
| Grip2 |
T |
C |
6: 91,773,178 (GRCm39) |
|
probably benign |
Het |
| Hacd4 |
A |
G |
4: 88,355,757 (GRCm39) |
F43L |
probably damaging |
Het |
| Hif1a |
T |
G |
12: 73,989,049 (GRCm39) |
S645R |
probably benign |
Het |
| Hipk3 |
A |
G |
2: 104,263,982 (GRCm39) |
S839P |
possibly damaging |
Het |
| Idi2l |
C |
A |
13: 8,990,802 (GRCm39) |
|
probably benign |
Het |
| Il16 |
A |
T |
7: 83,327,183 (GRCm39) |
|
probably benign |
Het |
| Il3ra |
T |
A |
14: 14,351,166 (GRCm38) |
|
probably null |
Het |
| Il5ra |
A |
G |
6: 106,721,296 (GRCm39) |
M1T |
probably null |
Het |
| Klra2 |
G |
A |
6: 131,197,148 (GRCm39) |
R251C |
probably benign |
Het |
| Lamc2 |
C |
T |
1: 153,009,367 (GRCm39) |
V813M |
probably benign |
Het |
| Lbr |
A |
G |
1: 181,659,778 (GRCm39) |
V139A |
probably benign |
Het |
| Lrp5 |
T |
C |
19: 3,650,777 (GRCm39) |
D1219G |
possibly damaging |
Het |
| Map3k6 |
C |
T |
4: 132,972,863 (GRCm39) |
P341S |
possibly damaging |
Het |
| Mcts2 |
A |
G |
2: 152,529,609 (GRCm39) |
E140G |
probably benign |
Het |
| Med1 |
T |
C |
11: 98,060,264 (GRCm39) |
M222V |
probably benign |
Het |
| Mef2a |
G |
T |
7: 66,884,896 (GRCm39) |
S406* |
probably null |
Het |
| Muc19 |
A |
T |
15: 91,784,696 (GRCm39) |
|
noncoding transcript |
Het |
| Nr1h2 |
A |
G |
7: 44,201,684 (GRCm39) |
|
probably benign |
Het |
| Or13j1 |
A |
T |
4: 43,706,592 (GRCm39) |
|
probably null |
Het |
| Or2w6 |
C |
A |
13: 21,843,316 (GRCm39) |
R59L |
probably damaging |
Het |
| Or56a42-ps1 |
A |
G |
7: 104,777,425 (GRCm39) |
V73A |
possibly damaging |
Het |
| Or5ac23 |
A |
T |
16: 59,149,123 (GRCm39) |
F250I |
probably damaging |
Het |
| P4hb |
G |
A |
11: 120,459,070 (GRCm39) |
T141I |
possibly damaging |
Het |
| Polr3a |
A |
G |
14: 24,534,202 (GRCm39) |
V101A |
probably benign |
Het |
| Pou4f2 |
A |
G |
8: 79,161,869 (GRCm39) |
S245P |
probably benign |
Het |
| Pramel26 |
G |
T |
4: 143,539,222 (GRCm39) |
N90K |
probably damaging |
Het |
| Rnpep |
A |
G |
1: 135,200,157 (GRCm39) |
V266A |
probably damaging |
Het |
| Scly |
G |
A |
1: 91,237,555 (GRCm39) |
G206R |
probably damaging |
Het |
| Sec14l3 |
A |
T |
11: 4,024,814 (GRCm39) |
K254N |
probably damaging |
Het |
| Sgpp1 |
A |
T |
12: 75,781,874 (GRCm39) |
I155N |
probably damaging |
Het |
| Slc22a14 |
A |
G |
9: 119,001,190 (GRCm39) |
L468P |
probably damaging |
Het |
| Slc22a27 |
A |
G |
19: 7,843,249 (GRCm39) |
F377L |
probably benign |
Het |
| Slc44a3 |
T |
C |
3: 121,253,719 (GRCm39) |
I625V |
probably benign |
Het |
| Slc47a2 |
A |
T |
11: 61,200,802 (GRCm39) |
I373N |
probably damaging |
Het |
| Slfn10-ps |
A |
T |
11: 82,926,479 (GRCm39) |
|
noncoding transcript |
Het |
| Smarcd1 |
T |
A |
15: 99,608,975 (GRCm39) |
I383N |
probably damaging |
Het |
| Sort1 |
A |
G |
3: 108,246,226 (GRCm39) |
D401G |
probably damaging |
Het |
| Sprr2a3 |
G |
T |
3: 92,195,897 (GRCm39) |
M1I |
probably null |
Het |
| Sycp2 |
A |
C |
2: 177,998,373 (GRCm39) |
V1049G |
possibly damaging |
Het |
| Tnpo3 |
A |
T |
6: 29,578,564 (GRCm39) |
C303* |
probably null |
Het |
| Vmn2r23 |
A |
G |
6: 123,706,680 (GRCm39) |
I503M |
probably benign |
Het |
| Zbtb8os |
T |
A |
4: 129,240,670 (GRCm39) |
I164N |
probably damaging |
Het |
| Zfp292 |
T |
C |
4: 34,807,399 (GRCm39) |
N1882D |
probably benign |
Het |
| Zfp91 |
T |
C |
19: 12,747,459 (GRCm39) |
I555V |
possibly damaging |
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 |
|
|
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 |
|
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'- CCTACAGATGCAGAAAGAGGGGACAT -3'
(R):5'- CCTGCTAAATAAAACTAGACCGCTGGAA -3'
Sequencing Primer
(F):5'- TGCATTTAGCAAAGTCCTGTC -3'
(R):5'- CATGCCACTTGACCTCCAG -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation