Incidental Mutation 'R0347:Tecrl'
ID |
38439 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tecrl
|
Ensembl Gene |
ENSMUSG00000049537 |
Gene Name |
trans-2,3-enoyl-CoA reductase-like |
Synonyms |
Srd5a2l2, D330017N19Rik |
MMRRC Submission |
038554-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.060)
|
Stock # |
R0347 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
83425992-83503042 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 83442479 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 198
(E198G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000062122
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053543]
|
AlphaFold |
Q8BFZ1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000053543
AA Change: E198G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000062122 Gene: ENSMUSG00000049537 AA Change: E198G
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 |
noncoding transcript
Transcript: ENSMUST00000117478
|
Predicted Effect |
unknown
Transcript: ENSMUST00000146669
AA Change: E158G
|
SMART Domains |
Protein: ENSMUSP00000115144 Gene: ENSMUSG00000049537 AA Change: E158G
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 |
0.8391 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 91.8%
|
Validation Efficiency |
100% (78/78) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca4 |
A |
G |
3: 121,913,748 (GRCm39) |
E908G |
probably benign |
Het |
Abcb5 |
T |
A |
12: 118,928,986 (GRCm39) |
|
probably benign |
Het |
Adhfe1 |
T |
A |
1: 9,623,655 (GRCm39) |
F102Y |
probably benign |
Het |
Aff4 |
A |
G |
11: 53,290,915 (GRCm39) |
Y625C |
probably benign |
Het |
Alox5 |
T |
C |
6: 116,390,513 (GRCm39) |
E488G |
possibly damaging |
Het |
Ankmy2 |
T |
C |
12: 36,243,753 (GRCm39) |
C323R |
probably damaging |
Het |
Ankrd28 |
A |
G |
14: 31,423,979 (GRCm39) |
*1084R |
probably null |
Het |
Apol10a |
A |
T |
15: 77,372,891 (GRCm39) |
I176F |
probably damaging |
Het |
Arhgap26 |
C |
T |
18: 38,750,797 (GRCm39) |
T70I |
unknown |
Het |
Arid2 |
A |
G |
15: 96,268,833 (GRCm39) |
N982S |
probably benign |
Het |
Bcl2 |
G |
A |
1: 106,640,292 (GRCm39) |
R107C |
probably damaging |
Het |
Camsap3 |
A |
G |
8: 3,652,029 (GRCm39) |
D291G |
probably damaging |
Het |
Camta1 |
C |
A |
4: 151,159,597 (GRCm39) |
R1614L |
probably damaging |
Het |
Cdc20b |
G |
T |
13: 113,196,361 (GRCm39) |
G162V |
probably damaging |
Het |
Cep44 |
T |
G |
8: 56,998,510 (GRCm39) |
E56A |
probably damaging |
Het |
Cfap410 |
A |
T |
10: 77,820,256 (GRCm39) |
I209F |
probably damaging |
Het |
Cfap65 |
A |
G |
1: 74,965,603 (GRCm39) |
L469P |
probably damaging |
Het |
Cilp |
T |
A |
9: 65,187,435 (GRCm39) |
C1177S |
probably benign |
Het |
Ctnnbip1 |
C |
T |
4: 149,630,211 (GRCm39) |
P7S |
probably damaging |
Het |
Cyp11a1 |
T |
C |
9: 57,923,543 (GRCm39) |
|
probably benign |
Het |
Cyp3a11 |
C |
T |
5: 145,802,735 (GRCm39) |
V253M |
possibly damaging |
Het |
D630045J12Rik |
C |
A |
6: 38,158,327 (GRCm39) |
V1117L |
probably damaging |
Het |
Dnah7b |
T |
A |
1: 46,280,104 (GRCm39) |
S2678T |
probably damaging |
Het |
Dock1 |
T |
C |
7: 134,365,596 (GRCm39) |
I428T |
probably damaging |
Het |
Fam83f |
A |
G |
15: 80,556,458 (GRCm39) |
D114G |
probably damaging |
Het |
Flt3 |
T |
A |
5: 147,294,802 (GRCm39) |
N423I |
probably damaging |
Het |
Fnbp1l |
A |
T |
3: 122,383,824 (GRCm39) |
F31L |
probably damaging |
Het |
Glrx3 |
G |
A |
7: 137,039,430 (GRCm39) |
E10K |
unknown |
Het |
Gm12185 |
T |
C |
11: 48,806,009 (GRCm39) |
E394G |
probably benign |
Het |
Gpatch1 |
C |
T |
7: 34,997,056 (GRCm39) |
V381M |
probably benign |
Het |
Grm8 |
T |
C |
6: 27,981,221 (GRCm39) |
S230G |
probably benign |
Het |
Heyl |
A |
T |
4: 123,127,733 (GRCm39) |
D25V |
probably benign |
Het |
Junb |
G |
A |
8: 85,705,107 (GRCm39) |
|
probably benign |
Het |
Klhl29 |
C |
A |
12: 5,134,354 (GRCm39) |
V747F |
probably damaging |
Het |
Krt77 |
T |
C |
15: 101,768,304 (GRCm39) |
H569R |
unknown |
Het |
Ldhb |
T |
C |
6: 142,439,859 (GRCm39) |
N227S |
probably benign |
Het |
Megf6 |
A |
G |
4: 154,339,092 (GRCm39) |
D543G |
possibly damaging |
Het |
Mrps23 |
A |
T |
11: 88,101,519 (GRCm39) |
Q136L |
probably benign |
Het |
Myh2 |
C |
T |
11: 67,076,130 (GRCm39) |
|
probably benign |
Het |
Nadk2 |
T |
A |
15: 9,084,287 (GRCm39) |
D133E |
probably benign |
Het |
Neurod4 |
G |
A |
10: 130,106,980 (GRCm39) |
T98I |
probably damaging |
Het |
Nfatc2 |
G |
T |
2: 168,378,210 (GRCm39) |
T465K |
probably damaging |
Het |
Nipbl |
A |
G |
15: 8,380,216 (GRCm39) |
S859P |
probably benign |
Het |
Nipsnap3a |
T |
C |
4: 52,997,155 (GRCm39) |
|
probably benign |
Het |
Nlrp4c |
A |
G |
7: 6,069,415 (GRCm39) |
K439E |
possibly damaging |
Het |
Or10q3 |
A |
T |
19: 11,847,797 (GRCm39) |
L261H |
probably damaging |
Het |
Or1e32 |
C |
T |
11: 73,705,137 (GRCm39) |
G257D |
probably damaging |
Het |
Or2a20 |
T |
C |
6: 43,194,296 (GRCm39) |
F150L |
probably benign |
Het |
Pds5b |
T |
A |
5: 150,659,892 (GRCm39) |
|
probably benign |
Het |
Pira13 |
A |
T |
7: 3,825,873 (GRCm39) |
V332E |
probably damaging |
Het |
Plch1 |
A |
G |
3: 63,660,737 (GRCm39) |
M282T |
probably damaging |
Het |
Plch2 |
C |
A |
4: 155,071,178 (GRCm39) |
R1067L |
possibly damaging |
Het |
Polr1has |
T |
A |
17: 37,276,207 (GRCm39) |
M114K |
probably damaging |
Het |
Pou2f2 |
A |
C |
7: 24,797,126 (GRCm39) |
F206V |
probably damaging |
Het |
Prss50 |
A |
G |
9: 110,691,418 (GRCm39) |
I49V |
probably damaging |
Het |
Rexo5 |
T |
A |
7: 119,423,119 (GRCm39) |
|
probably null |
Het |
Rgl2 |
C |
T |
17: 34,151,712 (GRCm39) |
T252I |
probably damaging |
Het |
Rp1l1 |
A |
T |
14: 64,268,253 (GRCm39) |
K1280* |
probably null |
Het |
Rpl24 |
T |
A |
16: 55,790,540 (GRCm39) |
|
probably null |
Het |
Satb1 |
T |
A |
17: 52,046,934 (GRCm39) |
K763* |
probably null |
Het |
Scart2 |
T |
A |
7: 139,877,767 (GRCm39) |
H800Q |
probably damaging |
Het |
Sema6a |
T |
A |
18: 47,424,196 (GRCm39) |
R237S |
probably damaging |
Het |
Spg11 |
T |
C |
2: 121,927,850 (GRCm39) |
T645A |
probably damaging |
Het |
Srrt |
T |
A |
5: 137,297,938 (GRCm39) |
|
probably benign |
Het |
Tanc1 |
T |
C |
2: 59,673,335 (GRCm39) |
V1480A |
probably benign |
Het |
Tbc1d2 |
T |
C |
4: 46,620,574 (GRCm39) |
D412G |
possibly damaging |
Het |
Tigd4 |
A |
G |
3: 84,501,167 (GRCm39) |
D28G |
probably damaging |
Het |
Trp53bp2 |
T |
G |
1: 182,269,213 (GRCm39) |
L226V |
probably benign |
Het |
Ttll13 |
T |
C |
7: 79,910,253 (GRCm39) |
S799P |
possibly damaging |
Het |
Vps13c |
A |
T |
9: 67,817,515 (GRCm39) |
Q1062H |
possibly damaging |
Het |
Wnt10a |
T |
G |
1: 74,832,702 (GRCm39) |
H98Q |
probably damaging |
Het |
Zbtb47 |
C |
T |
9: 121,592,168 (GRCm39) |
P198S |
probably damaging |
Het |
Zfp959 |
T |
A |
17: 56,204,180 (GRCm39) |
Y69* |
probably null |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GCCTTGGCTTATTTCAGGGAGACAT -3'
(R):5'- TTTTCTGTGGCAGAGCAGAGCAA -3'
Sequencing Primer
(F):5'- ctctttctctttctctctcccc -3'
(R):5'- ACAGAGGGAATTATGTGCTCAG -3'
|
Posted On |
2013-05-23 |