Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03284:Styxl1'

415660

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Styxl1

Ensembl Gene

ENSMUSG00000019178

Gene Name

serine/threonine/tyrosine interacting-like 1

Synonyms

1700011C14Rik, Dusp24

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03284

Quality Score

Status

Chromosome

Chromosomal Location

135776074-135807239 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 135785949 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 32 (V32A)

Ref Sequence

ENSEMBL: ENSMUSP00000137191 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053906] [ENSMUST00000111161] [ENSMUST00000111162] [ENSMUST00000111163] [ENSMUST00000111164] [ENSMUST00000142343] [ENSMUST00000177559] [ENSMUST00000178515] [ENSMUST00000178796]

AlphaFold

Q9DAR2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000053906
AA Change: V176A

PolyPhen 2 Score 0.516 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000051216
Gene: ENSMUSG00000019178
AA Change: V176A

Domain	Start	End	E-Value	Type
RHOD	17	148	1.31e-3	SMART
DSPc	167	307	1.01e-17	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111161
AA Change: V32A

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000106791
Gene: ENSMUSG00000019178
AA Change: V32A

Domain	Start	End	E-Value	Type
DSPc	23	163	1.01e-17	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000111162

SMART Domains

Protein: ENSMUSP00000106792
Gene: ENSMUSG00000019178

Domain	Start	End	E-Value	Type
Pfam:DSPc	64	203	2.5e-18	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111163
AA Change: V176A

PolyPhen 2 Score 0.516 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000106793
Gene: ENSMUSG00000019178
AA Change: V176A

Domain	Start	End	E-Value	Type
RHOD	17	148	1.31e-3	SMART
DSPc	167	307	1.01e-17	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111164
AA Change: V176A

PolyPhen 2 Score 0.516 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000106794
Gene: ENSMUSG00000019178
AA Change: V176A

Domain	Start	End	E-Value	Type
RHOD	17	148	1.31e-3	SMART
DSPc	167	307	1.01e-17	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000142343
AA Change: S121P

SMART Domains

Protein: ENSMUSP00000136983
Gene: ENSMUSG00000019178
AA Change: S121P

Domain	Start	End	E-Value	Type
Blast:RHOD	17	62	8e-19	BLAST
SCOP:d1gmxa_	23	67	6e-3	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000177559
AA Change: V176A

PolyPhen 2 Score 0.516 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000135982
Gene: ENSMUSG00000019178
AA Change: V176A

Domain	Start	End	E-Value	Type
RHOD	17	148	1.31e-3	SMART
DSPc	167	307	1.01e-17	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000178515
AA Change: V32A

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000137191
Gene: ENSMUSG00000019178
AA Change: V32A

Domain	Start	End	E-Value	Type
DSPc	23	163	1.01e-17	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000178796

SMART Domains

Protein: ENSMUSP00000137481
Gene: ENSMUSG00000019178

Domain	Start	End	E-Value	Type
RHOD	27	158	1.31e-3	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam5	A	T	8: 25,276,354 (GRCm39)		probably benign	Het
Atxn7l3b	T	C	10: 112,764,431 (GRCm39)	D66G	probably benign	Het
Dmac2	T	C	7: 25,321,851 (GRCm39)		probably null	Het
Ephb2	A	G	4: 136,388,827 (GRCm39)	M590T	probably damaging	Het
Fbxo41	C	T	6: 85,456,747 (GRCm39)	R474H	probably damaging	Het
Fcgbp	G	T	7: 27,784,857 (GRCm39)	A306S	possibly damaging	Het
Hapstr1	A	G	16: 8,673,786 (GRCm39)	I238V	possibly damaging	Het
Hmg20a	A	G	9: 56,388,901 (GRCm39)	D156G	probably benign	Het
Mast4	A	G	13: 102,887,905 (GRCm39)	V1168A	probably damaging	Het
Oog2	A	G	4: 143,923,177 (GRCm39)		probably benign	Het
Pate12	T	A	9: 36,344,759 (GRCm39)	C96S	probably damaging	Het
Pkhd1l1	T	A	15: 44,410,914 (GRCm39)		probably benign	Het
Psmd6	A	T	14: 14,112,546 (GRCm38)	N351K	probably benign	Het
Ralgps1	T	C	2: 33,036,577 (GRCm39)		probably benign	Het
Rbl1	C	T	2: 157,035,989 (GRCm39)		probably benign	Het
Smarcc1	G	A	9: 110,004,142 (GRCm39)	V399I	probably benign	Het
Srek1	C	A	13: 103,897,045 (GRCm39)	V99F	probably damaging	Het
Tnn	C	T	1: 159,953,022 (GRCm39)	V673I	probably benign	Het
Vmn2r107	T	A	17: 20,577,173 (GRCm39)	D390E	probably benign	Het

Other mutations in Styxl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01820:Styxl1	APN	5	135,794,604 (GRCm39)	missense	probably damaging	1.00
IGL02735:Styxl1	APN	5	135,787,996 (GRCm39)	missense	probably damaging	1.00
R1263:Styxl1	UTSW	5	135,782,737 (GRCm39)	missense	probably damaging	1.00
R1533:Styxl1	UTSW	5	135,799,175 (GRCm39)	missense	probably damaging	1.00
R1987:Styxl1	UTSW	5	135,785,976 (GRCm39)	missense	probably damaging	1.00
R2399:Styxl1	UTSW	5	135,776,635 (GRCm39)	missense	possibly damaging	0.80
R3040:Styxl1	UTSW	5	135,785,887 (GRCm39)	missense	probably damaging	1.00
R3411:Styxl1	UTSW	5	135,794,618 (GRCm39)	missense	probably damaging	1.00
R4085:Styxl1	UTSW	5	135,788,019 (GRCm39)	missense	unknown
R4772:Styxl1	UTSW	5	135,797,755 (GRCm39)	nonsense	probably null
R5667:Styxl1	UTSW	5	135,785,977 (GRCm39)	splice site	probably null
R6376:Styxl1	UTSW	5	135,776,664 (GRCm39)	missense	probably benign	0.04
R6601:Styxl1	UTSW	5	135,784,350 (GRCm39)	missense	probably benign	0.30
R7588:Styxl1	UTSW	5	135,799,130 (GRCm39)	missense	probably damaging	0.98
R7735:Styxl1	UTSW	5	135,788,023 (GRCm39)	missense	probably damaging	1.00
R8922:Styxl1	UTSW	5	135,776,634 (GRCm39)	missense	probably benign	0.05
R9188:Styxl1	UTSW	5	135,794,672 (GRCm39)	critical splice acceptor site	probably null
R9337:Styxl1	UTSW	5	135,794,592 (GRCm39)	missense	probably benign	0.01
R9430:Styxl1	UTSW	5	135,784,259 (GRCm39)	critical splice donor site	probably null
R9536:Styxl1	UTSW	5	135,776,634 (GRCm39)	missense	probably benign	0.05
R9689:Styxl1	UTSW	5	135,799,190 (GRCm39)	missense	probably null	1.00

Posted On

2016-08-02