Mutagenetix > Incidental Mutation

Incidental Mutation 'R2970:Styxl2'

255203

Institutional Source

Beutler Lab

Gene Symbol

Styxl2

Ensembl Gene

ENSMUSG00000026564

Gene Name

serine/threonine/tyrosine interacting like 2

Synonyms

C130085G02Rik, Dusp27

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2970 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

165925717-165955467 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 165926798 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 938 (S938N)

Ref Sequence

ENSEMBL: ENSMUSP00000141564 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000085992] [ENSMUST00000192369]

AlphaFold

Q148W8

Predicted Effect

probably benign
Transcript: ENSMUST00000085992
AA Change: S938N

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000083155
Gene: ENSMUSG00000026564
AA Change: S938N

Domain	Start	End	E-Value	Type
low complexity region	6	20	N/A	INTRINSIC
DSPc	133	277	2.45e-30	SMART
low complexity region	339	348	N/A	INTRINSIC
low complexity region	404	425	N/A	INTRINSIC
low complexity region	429	439	N/A	INTRINSIC
low complexity region	618	635	N/A	INTRINSIC
low complexity region	655	666	N/A	INTRINSIC
low complexity region	773	788	N/A	INTRINSIC
coiled coil region	813	839	N/A	INTRINSIC
low complexity region	851	860	N/A	INTRINSIC
low complexity region	936	950	N/A	INTRINSIC
low complexity region	1001	1019	N/A	INTRINSIC
low complexity region	1026	1040	N/A	INTRINSIC
low complexity region	1074	1091	N/A	INTRINSIC
low complexity region	1108	1120	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000192369
AA Change: S938N

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000141564
Gene: ENSMUSG00000026564
AA Change: S938N

Domain	Start	End	E-Value	Type
low complexity region	6	20	N/A	INTRINSIC
DSPc	133	277	2.45e-30	SMART
low complexity region	339	348	N/A	INTRINSIC
low complexity region	404	425	N/A	INTRINSIC
low complexity region	429	439	N/A	INTRINSIC
low complexity region	618	635	N/A	INTRINSIC
low complexity region	655	666	N/A	INTRINSIC
low complexity region	773	788	N/A	INTRINSIC
coiled coil region	813	839	N/A	INTRINSIC
low complexity region	851	860	N/A	INTRINSIC
low complexity region	936	950	N/A	INTRINSIC
low complexity region	1001	1019	N/A	INTRINSIC
low complexity region	1026	1040	N/A	INTRINSIC
low complexity region	1074	1091	N/A	INTRINSIC
low complexity region	1108	1120	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aff3	A	G	1: 38,574,103 (GRCm39)	S253P	probably damaging	Het
Arhgap12	A	T	18: 6,111,732 (GRCm39)	S211T	probably damaging	Het
Ccdc186	T	G	19: 56,795,430 (GRCm39)	N416H	probably damaging	Het
Eipr1	A	T	12: 28,897,593 (GRCm39)	I152F	probably benign	Het
Enpp7	T	C	11: 118,881,472 (GRCm39)	S206P	probably damaging	Het
Ighv8-12	C	T	12: 115,611,570 (GRCm39)	R118Q	probably benign	Het
Mrgprb5	T	A	7: 47,818,317 (GRCm39)	R139S	probably damaging	Het
Nipbl	C	A	15: 8,340,723 (GRCm39)	C1999F	probably damaging	Het
Or10d4c	T	C	9: 39,558,195 (GRCm39)	Y58H	probably damaging	Het
Or51b6	T	C	7: 103,556,519 (GRCm39)	V291A	probably benign	Het
Or5m11b	T	C	2: 85,806,454 (GRCm39)	I289T	possibly damaging	Het
Pcnx2	A	C	8: 126,528,275 (GRCm39)	L1315R	probably damaging	Het
Ric1	A	G	19: 29,555,118 (GRCm39)	T411A	probably benign	Het
Rnf133	T	C	6: 23,649,405 (GRCm39)	I175V	probably benign	Het
Serpina3n	C	T	12: 104,375,333 (GRCm39)	T135M	probably benign	Het
Slc10a5	C	A	3: 10,400,127 (GRCm39)	G178W	probably damaging	Het
Spam1	A	T	6: 24,796,724 (GRCm39)	N225I	probably damaging	Het
St7	A	T	6: 17,844,908 (GRCm39)	E132V	probably damaging	Het
Tmem59l	A	G	8: 70,939,951 (GRCm39)	L6S	unknown	Het
Trbv13-1	A	G	6: 41,093,310 (GRCm39)	K81R	possibly damaging	Het
Trp53bp2	T	C	1: 182,259,163 (GRCm39)	L72P	probably damaging	Het
Vipas39	T	C	12: 87,289,345 (GRCm39)	N373S	probably benign	Het
Vmn1r71	T	C	7: 10,482,641 (GRCm39)	T16A	possibly damaging	Het

Other mutations in Styxl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00706:Styxl2	APN	1	165,928,121 (GRCm39)	missense	probably benign	0.00
IGL00973:Styxl2	APN	1	165,927,027 (GRCm39)	missense	probably benign
IGL01331:Styxl2	APN	1	165,935,749 (GRCm39)	missense	probably damaging	1.00
IGL01466:Styxl2	APN	1	165,928,073 (GRCm39)	missense	probably damaging	1.00
IGL01572:Styxl2	APN	1	165,927,941 (GRCm39)	missense	probably benign	0.18
IGL01906:Styxl2	APN	1	165,927,092 (GRCm39)	missense	probably damaging	1.00
IGL01974:Styxl2	APN	1	165,928,105 (GRCm39)	nonsense	probably null
IGL02112:Styxl2	APN	1	165,927,240 (GRCm39)	nonsense	probably null
IGL02805:Styxl2	APN	1	165,926,630 (GRCm39)	missense	probably damaging	1.00
IGL03343:Styxl2	APN	1	165,927,017 (GRCm39)	missense	probably benign	0.00
R0116:Styxl2	UTSW	1	165,927,270 (GRCm39)	missense	probably benign	0.19
R0367:Styxl2	UTSW	1	165,928,332 (GRCm39)	missense	probably benign	0.05
R0499:Styxl2	UTSW	1	165,926,670 (GRCm39)	missense	probably benign	0.00
R0542:Styxl2	UTSW	1	165,928,853 (GRCm39)	missense	possibly damaging	0.90
R1312:Styxl2	UTSW	1	165,926,860 (GRCm39)	missense	possibly damaging	0.46
R1572:Styxl2	UTSW	1	165,927,024 (GRCm39)	missense	possibly damaging	0.68
R1598:Styxl2	UTSW	1	165,937,828 (GRCm39)	missense	probably benign	0.10
R1858:Styxl2	UTSW	1	165,928,415 (GRCm39)	missense	possibly damaging	0.87
R2021:Styxl2	UTSW	1	165,928,392 (GRCm39)	missense	probably benign	0.00
R3727:Styxl2	UTSW	1	165,927,075 (GRCm39)	missense	probably damaging	1.00
R4041:Styxl2	UTSW	1	165,927,680 (GRCm39)	missense	probably benign	0.01
R4245:Styxl2	UTSW	1	165,928,685 (GRCm39)	missense	probably damaging	1.00
R4955:Styxl2	UTSW	1	165,935,661 (GRCm39)	missense	probably damaging	1.00
R4967:Styxl2	UTSW	1	165,954,675 (GRCm39)	missense	probably damaging	1.00
R5040:Styxl2	UTSW	1	165,927,914 (GRCm39)	missense	probably benign	0.17
R5342:Styxl2	UTSW	1	165,937,819 (GRCm39)	missense	probably benign	0.01
R5467:Styxl2	UTSW	1	165,939,599 (GRCm39)	critical splice donor site	probably null
R5742:Styxl2	UTSW	1	165,927,023 (GRCm39)	missense	probably benign	0.00
R6222:Styxl2	UTSW	1	165,926,214 (GRCm39)	missense	probably benign	0.26
R6239:Styxl2	UTSW	1	165,926,388 (GRCm39)	missense	probably damaging	1.00
R6531:Styxl2	UTSW	1	165,937,615 (GRCm39)	splice site	probably null
R6586:Styxl2	UTSW	1	165,928,454 (GRCm39)	missense	possibly damaging	0.79
R6958:Styxl2	UTSW	1	165,935,565 (GRCm39)	missense	probably damaging	1.00
R7006:Styxl2	UTSW	1	165,926,663 (GRCm39)	missense	probably benign
R7111:Styxl2	UTSW	1	165,954,723 (GRCm39)	missense	possibly damaging	0.66
R7310:Styxl2	UTSW	1	165,926,300 (GRCm39)	missense	possibly damaging	0.46
R7312:Styxl2	UTSW	1	165,954,676 (GRCm39)	missense	probably damaging	0.99
R7378:Styxl2	UTSW	1	165,939,632 (GRCm39)	nonsense	probably null
R7398:Styxl2	UTSW	1	165,928,044 (GRCm39)	missense	probably damaging	1.00
R7442:Styxl2	UTSW	1	165,928,584 (GRCm39)	missense	probably benign	0.01
R7569:Styxl2	UTSW	1	165,935,604 (GRCm39)	missense	probably damaging	1.00
R7920:Styxl2	UTSW	1	165,927,465 (GRCm39)	missense	possibly damaging	0.72
R7954:Styxl2	UTSW	1	165,926,849 (GRCm39)	missense	probably benign	0.05
R7972:Styxl2	UTSW	1	165,926,708 (GRCm39)	missense	probably damaging	1.00
R8186:Styxl2	UTSW	1	165,927,648 (GRCm39)	missense	probably damaging	1.00
R8354:Styxl2	UTSW	1	165,935,702 (GRCm39)	missense	probably damaging	1.00
R8454:Styxl2	UTSW	1	165,935,702 (GRCm39)	missense	probably damaging	1.00
R8535:Styxl2	UTSW	1	165,928,730 (GRCm39)	missense	probably benign	0.01
R9419:Styxl2	UTSW	1	165,927,755 (GRCm39)	missense	probably damaging	1.00
R9493:Styxl2	UTSW	1	165,926,410 (GRCm39)	missense	probably damaging	1.00
R9694:Styxl2	UTSW	1	165,928,654 (GRCm39)	missense	probably damaging	1.00
Z1088:Styxl2	UTSW	1	165,926,852 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGACCGAGAGAACTTGTGC -3'
(R):5'- ACAGTGCCATCGGAAGCTTC -3'

Sequencing Primer
(F):5'- GACCGAGAGAACTTGTGCATCTC -3'
(R):5'- GGAAGCTTCCGGTACTCCTC -3'

Posted On

2014-12-29