Incidental Mutation 'R1607:Tecrl'
ID |
176545 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tecrl
|
Ensembl Gene |
ENSMUSG00000049537 |
Gene Name |
trans-2,3-enoyl-CoA reductase-like |
Synonyms |
Srd5a2l2, D330017N19Rik |
MMRRC Submission |
039644-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.060)
|
Stock # |
R1607 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
83425992-83503042 bp(-) (GRCm39) |
Type of Mutation |
splice site (3 bp from exon) |
DNA Base Change (assembly) |
T to C
at 83428355 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000062122
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053543]
|
AlphaFold |
Q8BFZ1 |
Predicted Effect |
probably null
Transcript: ENSMUST00000053543
|
SMART Domains |
Protein: ENSMUSP00000062122 Gene: ENSMUSG00000049537
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 |
|
Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.1%
- 20x: 88.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca14 |
C |
T |
7: 119,850,514 (GRCm39) |
P789S |
probably damaging |
Het |
Adam17 |
T |
A |
12: 21,384,139 (GRCm39) |
|
probably null |
Het |
Afdn |
C |
T |
17: 14,030,763 (GRCm39) |
R224W |
probably damaging |
Het |
Als2 |
A |
G |
1: 59,219,306 (GRCm39) |
Y1215H |
probably damaging |
Het |
Anks1b |
A |
T |
10: 89,878,410 (GRCm39) |
D73V |
probably damaging |
Het |
Bpifb6 |
T |
C |
2: 153,748,781 (GRCm39) |
F259S |
probably damaging |
Het |
Cenpv |
A |
T |
11: 62,416,002 (GRCm39) |
M249K |
probably benign |
Het |
Ces1d |
C |
T |
8: 93,912,746 (GRCm39) |
V231I |
probably benign |
Het |
Clasp1 |
G |
A |
1: 118,432,689 (GRCm39) |
V460I |
probably damaging |
Het |
Cnot10 |
A |
T |
9: 114,458,163 (GRCm39) |
Y114* |
probably null |
Het |
Cpb1 |
G |
T |
3: 20,317,946 (GRCm39) |
R193S |
probably benign |
Het |
Ctc1 |
T |
C |
11: 68,926,976 (GRCm39) |
S1207P |
possibly damaging |
Het |
Cttnbp2 |
T |
A |
6: 18,435,432 (GRCm39) |
K142M |
probably damaging |
Het |
Dhrs7b |
T |
G |
11: 60,742,717 (GRCm39) |
D136E |
probably benign |
Het |
Dnah7b |
T |
C |
1: 46,329,806 (GRCm39) |
S3217P |
probably damaging |
Het |
Eif4g3 |
C |
T |
4: 137,853,874 (GRCm39) |
S480L |
probably benign |
Het |
Enah |
A |
T |
1: 181,744,762 (GRCm39) |
|
probably null |
Het |
Epx |
T |
C |
11: 87,759,538 (GRCm39) |
D517G |
probably damaging |
Het |
Gabrg2 |
T |
A |
11: 41,867,490 (GRCm39) |
D43V |
probably damaging |
Het |
Gdf9 |
A |
T |
11: 53,328,338 (GRCm39) |
E431D |
possibly damaging |
Het |
Ghr |
T |
C |
15: 3,350,056 (GRCm39) |
D374G |
probably damaging |
Het |
Gin1 |
A |
T |
1: 97,713,875 (GRCm39) |
I392F |
probably damaging |
Het |
Greb1l |
A |
G |
18: 10,529,703 (GRCm39) |
E786G |
possibly damaging |
Het |
Grk4 |
T |
C |
5: 34,888,882 (GRCm39) |
V342A |
probably benign |
Het |
Hhipl2 |
A |
T |
1: 183,204,432 (GRCm39) |
Y135F |
possibly damaging |
Het |
Insig1 |
C |
T |
5: 28,276,706 (GRCm39) |
R91W |
probably damaging |
Het |
Kcnf1 |
C |
G |
12: 17,225,733 (GRCm39) |
D163H |
probably benign |
Het |
Kif11 |
A |
T |
19: 37,375,648 (GRCm39) |
K190* |
probably null |
Het |
Ldb2 |
T |
G |
5: 44,630,814 (GRCm39) |
E309A |
probably damaging |
Het |
Lipo4 |
T |
G |
19: 33,490,073 (GRCm39) |
D143A |
probably damaging |
Het |
Map3k6 |
T |
G |
4: 132,979,784 (GRCm39) |
I1261S |
probably damaging |
Het |
Mtus1 |
C |
T |
8: 41,468,446 (GRCm39) |
V27I |
possibly damaging |
Het |
Ndufaf2 |
C |
T |
13: 108,228,107 (GRCm39) |
V60I |
probably benign |
Het |
Nup133 |
A |
G |
8: 124,675,774 (GRCm39) |
F48L |
probably benign |
Het |
Or1i2 |
G |
T |
10: 78,447,974 (GRCm39) |
T167N |
probably benign |
Het |
Or2w4 |
A |
C |
13: 21,795,934 (GRCm39) |
F68L |
probably benign |
Het |
Or5w11 |
T |
A |
2: 87,459,321 (GRCm39) |
N171K |
probably benign |
Het |
Pcdhb21 |
A |
T |
18: 37,648,532 (GRCm39) |
N554Y |
probably damaging |
Het |
Pcx |
A |
T |
19: 4,653,187 (GRCm39) |
D284V |
possibly damaging |
Het |
Pcyt1a |
T |
C |
16: 32,285,937 (GRCm39) |
S203P |
probably damaging |
Het |
Pdlim3 |
A |
T |
8: 46,349,896 (GRCm39) |
I69F |
probably damaging |
Het |
Pkp4 |
T |
C |
2: 59,152,898 (GRCm39) |
V598A |
probably benign |
Het |
Plbd1 |
T |
C |
6: 136,589,304 (GRCm39) |
I509V |
probably benign |
Het |
Polr3b |
C |
A |
10: 84,488,647 (GRCm39) |
T319N |
probably benign |
Het |
Ptprj |
T |
C |
2: 90,293,664 (GRCm39) |
D380G |
probably benign |
Het |
Ralgapa1 |
T |
G |
12: 55,788,321 (GRCm39) |
R587S |
probably damaging |
Het |
Scn5a |
C |
A |
9: 119,315,158 (GRCm39) |
R1850L |
probably damaging |
Het |
Ssc5d |
C |
A |
7: 4,947,042 (GRCm39) |
T1132K |
probably benign |
Het |
Stard7 |
T |
A |
2: 127,137,406 (GRCm39) |
N285K |
possibly damaging |
Het |
Tcp11l2 |
C |
T |
10: 84,449,351 (GRCm39) |
R439W |
probably damaging |
Het |
Tep1 |
A |
T |
14: 51,062,020 (GRCm39) |
L2570Q |
probably null |
Het |
Tex14 |
A |
T |
11: 87,445,754 (GRCm39) |
D191V |
probably damaging |
Het |
Tm7sf2 |
A |
G |
19: 6,113,049 (GRCm39) |
|
probably null |
Het |
Tmem132e |
A |
G |
11: 82,328,196 (GRCm39) |
K408R |
probably benign |
Het |
Tube1 |
A |
G |
10: 39,020,762 (GRCm39) |
D216G |
possibly damaging |
Het |
Ubap2 |
C |
T |
4: 41,199,872 (GRCm39) |
A752T |
probably benign |
Het |
Vmn2r82 |
A |
G |
10: 79,215,253 (GRCm39) |
H412R |
possibly damaging |
Het |
Wtip |
T |
C |
7: 33,816,020 (GRCm39) |
E352G |
probably damaging |
Het |
Xirp2 |
T |
A |
2: 67,340,639 (GRCm39) |
L960* |
probably null |
Het |
Zc3h11a |
A |
C |
1: 133,552,425 (GRCm39) |
S561A |
probably benign |
Het |
Zfhx2 |
A |
T |
14: 55,300,442 (GRCm39) |
D2436E |
probably damaging |
Het |
Zfp763 |
T |
C |
17: 33,238,881 (GRCm39) |
H88R |
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 |
|
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'- AACAGACACCTCTGGCTCATCTACATA -3'
(R):5'- ACACTTTGACACTGGGAGAATGGAAAA -3'
Sequencing Primer
(F):5'- TCTCAAATCTGTCATATAAGACTTGC -3'
(R):5'- AATGACAGCTATTCCCTCTGAG -3'
|
Posted On |
2014-04-24 |