Mutagenetix > Incidental Mutation

Incidental Mutation 'R6948:Tecrl'

540966

Institutional Source

Beutler Lab

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: 0.064) question?

Stock #

R6948 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

83425992-83503042 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 83457097 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 128 (I128V)

Ref Sequence

ENSEMBL: ENSMUSP00000062122 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053543]

AlphaFold

Q8BFZ1

Predicted Effect

probably benign
Transcript: ENSMUST00000053543
AA Change: I128V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000062122
Gene: ENSMUSG00000049537
AA Change: I128V

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 benign
Transcript: ENSMUST00000146669

SMART Domains

Protein: ENSMUSP00000115144
Gene: ENSMUSG00000049537

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

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

97% (36/37)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arfgap2	A	G	2: 91,097,524 (GRCm39)	T107A	probably benign	Het
Calhm3	T	A	19: 47,140,344 (GRCm39)	M250L	probably damaging	Het
Catsperb	A	T	12: 101,447,327 (GRCm39)	I276L	probably benign	Het
Cd70	T	C	17: 57,456,594 (GRCm39)	E3G	probably damaging	Het
Cenpj	A	T	14: 56,790,683 (GRCm39)	S455R	probably damaging	Het
Cgn	C	G	3: 94,680,531 (GRCm39)	E590D	probably benign	Het
Cpvl	T	A	6: 53,873,468 (GRCm39)	I423F	possibly damaging	Het
Cyp2c54	T	A	19: 40,034,636 (GRCm39)	M345L	possibly damaging	Het
Dner	T	C	1: 84,383,738 (GRCm39)	N549D	probably damaging	Het
Fat4	T	A	3: 39,063,595 (GRCm39)	L4517Q	probably damaging	Het
Fbxw11	A	G	11: 32,692,597 (GRCm39)	T523A	probably damaging	Het
Flg	A	G	3: 93,195,475 (GRCm39)		probably benign	Het
Gcfc2	A	G	6: 81,910,734 (GRCm39)	E237G	probably benign	Het
Ipo5	G	T	14: 121,160,527 (GRCm39)	M181I	probably benign	Het
Itprid1	C	T	6: 55,955,470 (GRCm39)	T1026I	probably benign	Het
Klhl32	A	G	4: 24,629,250 (GRCm39)	Y506H	probably benign	Het
Mast3	G	A	8: 71,238,126 (GRCm39)	T505I	probably damaging	Het
Mrgprx2	A	T	7: 48,132,464 (GRCm39)	V118D	possibly damaging	Het
Mtor	T	G	4: 148,621,209 (GRCm39)	V1869G	probably benign	Het
Mycbp2	A	T	14: 103,522,703 (GRCm39)	M720K	possibly damaging	Het
Npy4r	A	G	14: 33,868,731 (GRCm39)	Y186H	probably benign	Het
Obscn	A	G	11: 58,997,142 (GRCm39)	S1520P	probably damaging	Het
Or10g1b	A	T	14: 52,627,614 (GRCm39)	F205L	probably benign	Het
Pex1	A	G	5: 3,655,994 (GRCm39)	N274D	probably benign	Het
Plxnb1	T	C	9: 108,945,702 (GRCm39)	Y2078H	probably damaging	Het
Rasgrp1	T	C	2: 117,129,085 (GRCm39)	D178G	probably damaging	Het
Reln	A	G	5: 22,177,033 (GRCm39)	S1878P	probably damaging	Het
Rims2	T	C	15: 39,374,737 (GRCm39)	V1033A	probably benign	Het
Scaf1	G	T	7: 44,662,971 (GRCm39)	S14*	probably null	Het
Serpinb9d	A	G	13: 33,384,706 (GRCm39)	S228G	possibly damaging	Het
Slc22a14	C	A	9: 119,060,482 (GRCm39)	A93S	probably damaging	Het
Sox30	G	A	11: 45,908,166 (GRCm39)	V778M	probably damaging	Het
Trip10	T	A	17: 57,569,448 (GRCm39)	C491S	probably damaging	Het
Vmn1r26	A	T	6: 57,985,718 (GRCm39)	M157K	probably damaging	Het
Zbtb1	A	T	12: 76,432,601 (GRCm39)	S196C	probably damaging	Het
Zfp236	T	C	18: 82,662,187 (GRCm39)	D582G	possibly damaging	Het
Zfp384	A	G	6: 125,001,873 (GRCm39)	T125A	probably benign	Het
Zpr1	T	G	9: 46,184,939 (GRCm39)		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
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
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'- CAGTTTGTGTGCAGGGTAATTTAAC -3'
(R):5'- ACTCAGATAAAAGGCTTCAAGTCTG -3'

Sequencing Primer
(F):5'- GTGTGCAGGGTAATTTAACATTTTC -3'
(R):5'- AAGGCTTCAAGTCTGATAATATTCAG -3'

Posted On

2018-11-28