Mutagenetix > Incidental Mutation

Incidental Mutation 'R3040:Styxl1'

264918

Institutional Source

Beutler Lab

Gene Symbol

Styxl1

Ensembl Gene

ENSMUSG00000019178

Gene Name

serine/threonine/tyrosine interacting-like 1

Synonyms

1700011C14Rik, Dusp24

MMRRC Submission

040556-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3040 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

135776074-135807239 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 135785887 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 197 (A197T)

Ref Sequence

ENSEMBL: ENSMUSP00000135982 (fasta)

Gene Model

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

AlphaFold

Q9DAR2

Predicted Effect

probably damaging
Transcript: ENSMUST00000053906
AA Change: A197T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000051216
Gene: ENSMUSG00000019178
AA Change: A197T

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: A53T

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000106791
Gene: ENSMUSG00000019178
AA Change: A53T

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

probably damaging
Transcript: ENSMUST00000111163
AA Change: A197T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000106793
Gene: ENSMUSG00000019178
AA Change: A197T

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000111164
AA Change: A197T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000106794
Gene: ENSMUSG00000019178
AA Change: A197T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000142343

SMART Domains

Protein: ENSMUSP00000136983
Gene: ENSMUSG00000019178

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000177559
AA Change: A197T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000135982
Gene: ENSMUSG00000019178
AA Change: A197T

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: A53T

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000137191
Gene: ENSMUSG00000019178
AA Change: A53T

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

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amotl1	A	C	9: 14,484,069 (GRCm39)	V498G	probably benign	Het
Ampd2	A	G	3: 107,983,732 (GRCm39)	Y602H	probably damaging	Het
Bahd1	C	T	2: 118,746,887 (GRCm39)	P169S	probably damaging	Het
Ccar1	G	T	10: 62,592,273 (GRCm39)	H760N	possibly damaging	Het
Cyp2c50	A	G	19: 40,086,570 (GRCm39)	N319S	probably benign	Het
Dcdc2c	G	C	12: 28,602,181 (GRCm39)	A41G	probably damaging	Het
Dzip3	G	A	16: 48,748,687 (GRCm39)	S1083F	probably damaging	Het
Etfdh	C	T	3: 79,512,226 (GRCm39)	R498Q	probably damaging	Het
Fbn2	A	T	18: 58,226,459 (GRCm39)	C772S	probably damaging	Het
Gask1b	T	A	3: 79,794,432 (GRCm39)	I300N	possibly damaging	Het
Gdap2	T	C	3: 100,095,351 (GRCm39)		probably null	Het
Iqcj	T	C	3: 67,962,675 (GRCm39)	S79P	probably damaging	Het
Isg20l2	T	C	3: 87,839,302 (GRCm39)	V171A	probably benign	Het
Kcna7	GGCTGCGCGGTGCCGCCCGAGCGGCCGCTGC	GGCTGC	7: 45,056,212 (GRCm39)		probably null	Het
Luc7l	A	T	17: 26,496,593 (GRCm39)		probably benign	Het
Mepe	T	G	5: 104,485,988 (GRCm39)	L376R	probably damaging	Het
Myo9b	G	A	8: 71,786,981 (GRCm39)	R721Q	probably benign	Het
Nedd4	T	C	9: 72,577,243 (GRCm39)	F23L	probably benign	Het
Neurl1a	T	C	19: 47,228,270 (GRCm39)	S22P	probably benign	Het
Pramel51	A	T	12: 88,145,118 (GRCm39)	S69R	probably benign	Het
Psmd2	T	C	16: 20,476,317 (GRCm39)	V470A	probably benign	Het
Pyroxd2	G	T	19: 42,723,957 (GRCm39)	Q323K	probably benign	Het
Slf2	A	G	19: 44,969,008 (GRCm39)	D1157G	probably damaging	Het
Tmem70	C	T	1: 16,737,989 (GRCm39)	T100M	possibly damaging	Het
Trip12	A	G	1: 84,719,966 (GRCm39)	V309A	probably benign	Het
Unc80	G	A	1: 66,678,464 (GRCm39)	V2082I	probably benign	Het
Vmn1r122	G	C	7: 20,867,371 (GRCm39)	P228R	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
IGL03284:Styxl1	APN	5	135,785,949 (GRCm39)	missense	possibly damaging	0.65
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
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

Predicted Primers

PCR Primer
(F):5'- CTTCTAACCTAGAACAGAAGCCTG -3'
(R):5'- GCCTCCCAATTATCTTTGGTGAG -3'

Sequencing Primer
(F):5'- CCAAACTTTCTGGTTAGGCAG -3'
(R):5'- CCCAATTATCTTTGGTGAGTGTACAC -3'

Posted On

2015-02-05