Incidental Mutation 'IGL02111:Tecrl'
ID |
280152 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tecrl
|
Ensembl Gene |
ENSMUSG00000049537 |
Gene Name |
trans-2,3-enoyl-CoA reductase-like |
Synonyms |
Srd5a2l2, D330017N19Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.060)
|
Stock # |
IGL02111
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
83425992-83503042 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 83502639 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Leucine
at position 70
(Q70L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000062122
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053543]
|
AlphaFold |
Q8BFZ1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000053543
AA Change: Q70L
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000062122 Gene: ENSMUSG00000049537 AA Change: Q70L
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 |
unknown
Transcript: ENSMUST00000146669
AA Change: Q55L
|
SMART Domains |
Protein: ENSMUSP00000115144 Gene: ENSMUSG00000049537 AA Change: Q55L
Domain | Start | End | E-Value | Type |
PDB:2DZJ|A
|
39 |
93 |
1e-11 |
PDB |
transmembrane domain
|
100 |
122 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrg3 |
G |
A |
8: 95,761,627 (GRCm39) |
R130Q |
probably damaging |
Het |
Adipor2 |
A |
T |
6: 119,347,157 (GRCm39) |
L42* |
probably null |
Het |
Ankrd45 |
A |
G |
1: 160,990,921 (GRCm39) |
K259E |
probably damaging |
Het |
Apoc3 |
T |
C |
9: 46,145,772 (GRCm39) |
K79R |
possibly damaging |
Het |
Arhgap40 |
T |
C |
2: 158,381,764 (GRCm39) |
Y416H |
probably damaging |
Het |
Armc5 |
A |
G |
7: 127,843,255 (GRCm39) |
T683A |
probably benign |
Het |
Bora |
T |
C |
14: 99,284,813 (GRCm39) |
V21A |
probably damaging |
Het |
Cacna1b |
C |
T |
2: 24,497,003 (GRCm39) |
S2189N |
probably damaging |
Het |
Cct2 |
G |
A |
10: 116,889,017 (GRCm39) |
T57I |
probably damaging |
Het |
Cd200r1 |
A |
T |
16: 44,609,144 (GRCm39) |
N34Y |
probably damaging |
Het |
Cd300ld2 |
T |
A |
11: 114,903,219 (GRCm39) |
|
probably benign |
Het |
Cntnap5a |
G |
A |
1: 116,017,082 (GRCm39) |
R225H |
probably benign |
Het |
Cntnap5c |
A |
T |
17: 58,409,103 (GRCm39) |
D447V |
probably damaging |
Het |
Cpne7 |
T |
C |
8: 123,852,392 (GRCm39) |
|
probably benign |
Het |
Dap3 |
G |
A |
3: 88,836,725 (GRCm39) |
T92I |
probably benign |
Het |
Dnmbp |
A |
G |
19: 43,855,994 (GRCm39) |
L254P |
probably damaging |
Het |
Egfem1 |
G |
A |
3: 29,705,045 (GRCm39) |
|
probably null |
Het |
Fam120b |
T |
C |
17: 15,622,847 (GRCm39) |
L275P |
possibly damaging |
Het |
Fam161a |
A |
T |
11: 22,970,026 (GRCm39) |
H68L |
probably benign |
Het |
Fam193a |
A |
G |
5: 34,568,001 (GRCm39) |
E100G |
possibly damaging |
Het |
Ftmt |
A |
T |
18: 52,465,125 (GRCm39) |
D147V |
possibly damaging |
Het |
Gm10136 |
T |
C |
19: 28,981,122 (GRCm39) |
K41E |
probably benign |
Het |
Gm10797 |
C |
T |
10: 67,408,397 (GRCm39) |
|
noncoding transcript |
Het |
Hsf1 |
A |
G |
15: 76,380,281 (GRCm39) |
|
probably benign |
Het |
Ipo8 |
A |
G |
6: 148,701,278 (GRCm39) |
V514A |
probably damaging |
Het |
Itfg2 |
T |
C |
6: 128,387,344 (GRCm39) |
H422R |
probably benign |
Het |
Lrp4 |
G |
T |
2: 91,336,404 (GRCm39) |
L1738F |
probably damaging |
Het |
Matcap2 |
T |
C |
9: 22,335,475 (GRCm39) |
I31T |
probably benign |
Het |
Mettl17 |
A |
G |
14: 52,128,843 (GRCm39) |
E371G |
probably damaging |
Het |
Mfsd6 |
A |
T |
1: 52,747,503 (GRCm39) |
L454Q |
probably damaging |
Het |
Myh10 |
A |
T |
11: 68,680,938 (GRCm39) |
E956V |
probably damaging |
Het |
Ncoa1 |
A |
T |
12: 4,324,944 (GRCm39) |
M1K |
probably null |
Het |
Or2d3c |
A |
C |
7: 106,525,823 (GRCm39) |
V281G |
probably damaging |
Het |
Or52e4 |
A |
G |
7: 104,706,152 (GRCm39) |
D233G |
probably benign |
Het |
Or5d36 |
T |
A |
2: 87,901,571 (GRCm39) |
N52Y |
probably benign |
Het |
Otop1 |
T |
A |
5: 38,435,045 (GRCm39) |
C89S |
probably benign |
Het |
Pitrm1 |
G |
T |
13: 6,623,181 (GRCm39) |
R775L |
probably benign |
Het |
Prpf19 |
A |
G |
19: 10,882,458 (GRCm39) |
T512A |
probably benign |
Het |
Prpf4b |
T |
A |
13: 35,067,944 (GRCm39) |
S258T |
probably benign |
Het |
Rhbdl2 |
T |
C |
4: 123,716,630 (GRCm39) |
Y196H |
probably damaging |
Het |
Rnf187 |
T |
C |
11: 58,828,006 (GRCm39) |
D148G |
probably damaging |
Het |
Sbds |
A |
G |
5: 130,279,782 (GRCm39) |
I74T |
probably damaging |
Het |
Sec63 |
T |
C |
10: 42,686,884 (GRCm39) |
V468A |
probably damaging |
Het |
Slc35b3 |
A |
T |
13: 39,139,758 (GRCm39) |
M23K |
probably damaging |
Het |
Slc6a9 |
A |
T |
4: 117,721,210 (GRCm39) |
Y208F |
probably benign |
Het |
Slfn8 |
A |
T |
11: 82,895,324 (GRCm39) |
L494Q |
probably damaging |
Het |
Sorcs1 |
T |
G |
19: 50,218,683 (GRCm39) |
M600L |
probably benign |
Het |
Supt7l |
T |
C |
5: 31,673,022 (GRCm39) |
|
probably null |
Het |
Tedc2 |
A |
T |
17: 24,437,140 (GRCm39) |
|
probably benign |
Het |
Tespa1 |
A |
G |
10: 130,191,353 (GRCm39) |
D99G |
probably damaging |
Het |
Tmem126b |
G |
T |
7: 90,118,269 (GRCm39) |
Q204K |
probably damaging |
Het |
Tmem181c-ps |
A |
T |
17: 6,887,766 (GRCm39) |
|
noncoding transcript |
Het |
Tmem184a |
G |
T |
5: 139,798,856 (GRCm39) |
T31K |
possibly damaging |
Het |
Tmprss11e |
T |
A |
5: 86,867,660 (GRCm39) |
I137F |
possibly damaging |
Het |
Tmprss13 |
C |
T |
9: 45,247,403 (GRCm39) |
T255I |
probably damaging |
Het |
Top1mt |
G |
A |
15: 75,537,555 (GRCm39) |
|
probably benign |
Het |
Treh |
C |
T |
9: 44,594,258 (GRCm39) |
T168I |
probably benign |
Het |
Ttn |
A |
T |
2: 76,597,672 (GRCm39) |
I11420N |
probably benign |
Het |
Zp2 |
T |
C |
7: 119,731,641 (GRCm39) |
K705E |
possibly damaging |
Het |
Zw10 |
T |
C |
9: 48,980,054 (GRCm39) |
I395T |
probably 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 |
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 |
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 |
|
Posted On |
2015-04-16 |