Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03079:Tecrl'

417780

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) question?

Stock #

IGL03079

Quality Score

Status

Chromosome

Chromosomal Location

83425992-83503042 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 83442447 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 209 (H209Y)

Ref Sequence

ENSEMBL: ENSMUSP00000062122 (fasta)

Gene Model

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

AlphaFold

Q8BFZ1

Predicted Effect

probably damaging
Transcript: ENSMUST00000053543
AA Change: H209Y

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000062122
Gene: ENSMUSG00000049537
AA Change: H209Y

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: H169Y

SMART Domains

Protein: ENSMUSP00000115144
Gene: ENSMUSG00000049537
AA Change: H169Y

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alx1	T	A	10: 102,845,209 (GRCm39)	H274L	probably damaging	Het
Arl6ip4	A	T	5: 124,254,990 (GRCm39)	H59L	possibly damaging	Het
C1ra	A	G	6: 124,496,794 (GRCm39)	Y410C	probably damaging	Het
Ceacam11	A	G	7: 17,712,361 (GRCm39)	N270S	probably benign	Het
Cmtr1	T	A	17: 29,882,267 (GRCm39)	N39K	possibly damaging	Het
Cmya5	T	C	13: 93,234,209 (GRCm39)	D293G	possibly damaging	Het
Cyp2d11	T	C	15: 82,275,167 (GRCm39)	E260G	probably damaging	Het
Dnajc13	C	T	9: 104,090,068 (GRCm39)	W700*	probably null	Het
Efemp2	G	T	19: 5,525,155 (GRCm39)	L20F	probably damaging	Het
Hars1	G	A	18: 36,903,556 (GRCm39)	L289F	probably damaging	Het
Hdlbp	A	G	1: 93,341,662 (GRCm39)		probably benign	Het
Iqgap3	A	T	3: 88,020,477 (GRCm39)	M374L	probably benign	Het
Lrig2	A	T	3: 104,398,287 (GRCm39)	W281R	probably damaging	Het
Lyg2	C	T	1: 37,946,727 (GRCm39)	E185K	possibly damaging	Het
Maml2	A	G	9: 13,532,912 (GRCm39)		probably benign	Het
Marchf11	T	C	15: 26,311,144 (GRCm39)	S207P	probably damaging	Het
Nipa2	A	T	7: 55,583,205 (GRCm39)	V180E	probably damaging	Het
Or4k6	A	T	14: 50,475,581 (GRCm39)	C254S	possibly damaging	Het
P2rx5	A	G	11: 73,055,714 (GRCm39)	D57G	possibly damaging	Het
Pxdn	T	C	12: 30,052,997 (GRCm39)	I1058T	probably damaging	Het
Rxfp3	C	A	15: 11,036,909 (GRCm39)	M154I	possibly damaging	Het
Slc3a1	T	A	17: 85,367,251 (GRCm39)	Y479*	probably null	Het
Tamalin	T	C	15: 101,128,448 (GRCm39)	V162A	probably damaging	Het
Ttll5	T	C	12: 85,923,332 (GRCm39)	Y270H	probably damaging	Het
Usp34	A	G	11: 23,382,247 (GRCm39)	E1986G	possibly damaging	Het
Zfp719	A	G	7: 43,240,590 (GRCm39)	Y726C	probably damaging	Het
Zfp810	T	C	9: 22,195,423 (GRCm39)	E7G	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
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
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

2016-08-02