Incidental Mutation 'IGL02240:Tecr'
ID 286043
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tecr
Ensembl Gene ENSMUSG00000031708
Gene Name trans-2,3-enoyl-CoA reductase
Synonyms Gpsn2, 2410016D23Rik, D17Ertd178e, A230102P12Rik, SC2
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02240
Quality Score
Status
Chromosome 8
Chromosomal Location 84298327-84321120 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 84300045 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 107 (D107G)
Ref Sequence ENSEMBL: ENSMUSP00000128329 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019382] [ENSMUST00000036996] [ENSMUST00000163837] [ENSMUST00000165740] [ENSMUST00000212990] [ENSMUST00000212630] [ENSMUST00000212703] [ENSMUST00000212005]
AlphaFold Q9CY27
Predicted Effect probably benign
Transcript: ENSMUST00000019382
AA Change: D53G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000019382
Gene: ENSMUSG00000031708
AA Change: D53G

DomainStartEndE-ValueType
PDB:2DZJ|A 1 81 2e-49 PDB
Blast:UBQ 5 81 8e-13 BLAST
transmembrane domain 85 107 N/A INTRINSIC
Pfam:Steroid_dh 154 308 3.4e-32 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000036996
SMART Domains Protein: ENSMUSP00000037341
Gene: ENSMUSG00000033938

DomainStartEndE-ValueType
Pfam:NDUF_B7 40 102 3.8e-32 PFAM
low complexity region 103 136 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127162
Predicted Effect probably damaging
Transcript: ENSMUST00000163837
AA Change: D107G

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000128329
Gene: ENSMUSG00000031708
AA Change: D107G

DomainStartEndE-ValueType
PDB:2DZJ|A 1 135 2e-27 PDB
Blast:UBQ 91 135 1e-7 BLAST
transmembrane domain 139 161 N/A INTRINSIC
Pfam:Steroid_dh 208 362 6e-32 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000165740
SMART Domains Protein: ENSMUSP00000131389
Gene: ENSMUSG00000031708

DomainStartEndE-ValueType
PDB:2DZJ|A 1 66 1e-31 PDB
transmembrane domain 70 92 N/A INTRINSIC
Pfam:Steroid_dh 139 293 3.6e-32 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211972
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212132
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212285
Predicted Effect probably benign
Transcript: ENSMUST00000212990
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212136
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212575
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212652
Predicted Effect probably benign
Transcript: ENSMUST00000212630
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212418
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212187
Predicted Effect probably benign
Transcript: ENSMUST00000212703
Predicted Effect probably benign
Transcript: ENSMUST00000212005
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a multi-pass membrane protein that resides in the endoplasmic reticulum, and belongs to the steroid 5-alpha reductase family. The elongation of microsomal long and very long chain fatty acid consists of 4 sequential reactions. This protein catalyzes the final step, reducing trans-2,3-enoyl-CoA to saturated acyl-CoA. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Apr 2011]
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cand2 A G 6: 115,780,623 (GRCm39) E1169G probably damaging Het
Cdc34 A G 10: 79,523,823 (GRCm39) D168G possibly damaging Het
Cwc27 A T 13: 104,943,151 (GRCm39) F130L probably damaging Het
Dglucy T A 12: 100,837,672 (GRCm39) M635K possibly damaging Het
Eral1 G A 11: 77,968,687 (GRCm39) R149* probably null Het
Gad1-ps A G 10: 99,280,820 (GRCm39) noncoding transcript Het
Glis3 A T 19: 28,508,925 (GRCm39) L353Q probably damaging Het
Gsta2 T A 9: 78,238,441 (GRCm39) I213F probably benign Het
Ist1 A T 8: 110,408,836 (GRCm39) probably benign Het
Kif1b A G 4: 149,330,871 (GRCm39) V549A probably damaging Het
Lrp2 C T 2: 69,365,390 (GRCm39) R261H probably benign Het
Msh4 T C 3: 153,579,311 (GRCm39) N512S probably damaging Het
Nlrp2 A T 7: 5,330,822 (GRCm39) S525T probably damaging Het
Nlrp4a G T 7: 26,148,703 (GRCm39) K103N possibly damaging Het
Or8b56 T A 9: 38,739,602 (GRCm39) V205D probably benign Het
Pcdhb10 A T 18: 37,545,455 (GRCm39) H177L possibly damaging Het
Plcb3 A T 19: 6,935,448 (GRCm39) probably benign Het
Podxl A G 6: 31,501,933 (GRCm39) L342P probably damaging Het
Psd4 T G 2: 24,286,389 (GRCm39) S330A probably benign Het
Sucla2 A G 14: 73,828,287 (GRCm39) D298G probably damaging Het
Vamp4 T A 1: 162,405,446 (GRCm39) N24K possibly damaging Het
Zfp91 A G 19: 12,753,770 (GRCm39) probably benign Het
Other mutations in Tecr
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4810001:Tecr UTSW 8 84,298,884 (GRCm39) missense probably damaging 1.00
R0322:Tecr UTSW 8 84,298,872 (GRCm39) missense probably damaging 0.99
R0349:Tecr UTSW 8 84,298,904 (GRCm39) missense probably damaging 1.00
R0708:Tecr UTSW 8 84,299,738 (GRCm39) missense probably damaging 0.97
R2517:Tecr UTSW 8 84,299,204 (GRCm39) missense probably benign 0.05
R7331:Tecr UTSW 8 84,298,564 (GRCm39) missense probably damaging 1.00
R8234:Tecr UTSW 8 84,299,880 (GRCm39) missense possibly damaging 0.80
Posted On 2015-04-16