Mutagenetix > Incidental Mutation

Incidental Mutation 'R5349:Stox2'

422768

Institutional Source

Beutler Lab

Gene Symbol

Stox2

Ensembl Gene

ENSMUSG00000038143

Gene Name

storkhead box 2

Synonyms

4933409N07Rik

MMRRC Submission

042928-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.194) question?

Stock #

R5349 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

47633083-47866943 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 47740951 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 44 (F44L)

Ref Sequence

ENSEMBL: ENSMUSP00000147477 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079195] [ENSMUST00000110367] [ENSMUST00000211737] [ENSMUST00000211882]

AlphaFold

Q499E5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000079195
AA Change: F44L

PolyPhen 2 Score 0.697 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000078190
Gene: ENSMUSG00000038143
AA Change: F44L

Domain	Start	End	E-Value	Type
low complexity region	15	30	N/A	INTRINSIC
Pfam:Stork_head	63	141	4.5e-35	PFAM
low complexity region	225	236	N/A	INTRINSIC
low complexity region	352	377	N/A	INTRINSIC
low complexity region	459	473	N/A	INTRINSIC
low complexity region	654	674	N/A	INTRINSIC
low complexity region	717	731	N/A	INTRINSIC
low complexity region	783	795	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110367

SMART Domains

Protein: ENSMUSP00000105996
Gene: ENSMUSG00000038143

Domain	Start	End	E-Value	Type
Pfam:Stork_head	1	79	5.6e-35	PFAM
low complexity region	163	174	N/A	INTRINSIC
low complexity region	290	315	N/A	INTRINSIC
low complexity region	397	411	N/A	INTRINSIC
low complexity region	592	612	N/A	INTRINSIC
low complexity region	655	669	N/A	INTRINSIC
low complexity region	721	733	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000211737
AA Change: F44L

PolyPhen 2 Score 0.697 (Sensitivity: 0.86; Specificity: 0.92)

Predicted Effect

probably benign
Transcript: ENSMUST00000211882

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a Storkhead-box_winged-helix domain containing protein. This protein is differentially expressed in decidual tissue and may be involved in the susceptibility to pre-eclampsia with fetal growth restriction. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn3	T	C	19: 4,917,986 (GRCm39)	E327G	possibly damaging	Het
Cd209d	T	G	8: 3,928,320 (GRCm39)	M22L	probably benign	Het
Chrna2	T	C	14: 66,380,956 (GRCm39)	V75A	probably damaging	Het
Cnst	A	G	1: 179,450,462 (GRCm39)	E642G	possibly damaging	Het
Diaph1	A	G	18: 38,024,125 (GRCm39)	V571A	unknown	Het
Dip2c	C	A	13: 9,672,689 (GRCm39)	H1032N	probably damaging	Het
Eif4a3l1	A	T	6: 136,306,694 (GRCm39)	D385V	probably damaging	Het
Fbxl3	T	C	14: 103,333,012 (GRCm39)		probably benign	Het
Glb1	T	C	9: 114,263,529 (GRCm39)		probably null	Het
Gm8220	T	C	14: 44,525,634 (GRCm39)	I101T	probably benign	Het
Grin2b	A	G	6: 136,021,281 (GRCm39)	C7R	possibly damaging	Het
Myo15a	T	C	11: 60,384,409 (GRCm39)	I516T	probably damaging	Het
Nr1i3	A	G	1: 171,042,641 (GRCm39)	D89G	possibly damaging	Het
Ogfod1	T	G	8: 94,781,876 (GRCm39)		probably benign	Het
Or4k2	G	T	14: 50,424,230 (GRCm39)	S148*	probably null	Het
Pard3	G	T	8: 128,142,224 (GRCm39)	D930Y	probably damaging	Het
Pde7b	C	T	10: 20,494,932 (GRCm39)	C9Y	probably damaging	Het
Pilra	T	A	5: 137,829,488 (GRCm39)	D192V	probably damaging	Het
Ptprj	A	G	2: 90,301,605 (GRCm39)	S176P	probably benign	Het
Slc4a2	T	C	5: 24,640,633 (GRCm39)	V685A	possibly damaging	Het
Srxn1	G	A	2: 151,947,799 (GRCm39)	V66M	probably damaging	Het
Tlr11	T	C	14: 50,598,337 (GRCm39)	F108L	probably benign	Het
Ttn	T	A	2: 76,585,168 (GRCm39)	I22042F	probably damaging	Het
Ttn	A	C	2: 76,638,450 (GRCm39)	I13943M	probably damaging	Het
Wdfy4	T	C	14: 32,710,856 (GRCm39)	D2577G	probably damaging	Het
Zyg11a	A	T	4: 108,040,929 (GRCm39)	F675I	probably damaging	Het

Other mutations in Stox2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02234:Stox2	APN	8	47,646,647 (GRCm39)	missense	probably damaging	1.00
IGL02331:Stox2	APN	8	47,644,979 (GRCm39)	missense	probably damaging	0.96
IGL02399:Stox2	APN	8	47,639,573 (GRCm39)	missense	probably damaging	0.99
IGL03091:Stox2	APN	8	47,646,222 (GRCm39)	missense	possibly damaging	0.66
IGL03143:Stox2	APN	8	47,646,839 (GRCm39)	missense	possibly damaging	0.78
IGL03307:Stox2	APN	8	47,647,065 (GRCm39)	missense	probably damaging	1.00
R0082:Stox2	UTSW	8	47,656,317 (GRCm39)	splice site	probably benign
R0313:Stox2	UTSW	8	47,645,169 (GRCm39)	missense	probably damaging	1.00
R0382:Stox2	UTSW	8	47,656,319 (GRCm39)	splice site	probably benign
R0513:Stox2	UTSW	8	47,646,900 (GRCm39)	missense	probably damaging	1.00
R0539:Stox2	UTSW	8	47,647,070 (GRCm39)	missense	probably damaging	0.97
R0920:Stox2	UTSW	8	47,646,053 (GRCm39)	missense	probably damaging	1.00
R1764:Stox2	UTSW	8	47,647,051 (GRCm39)	nonsense	probably null
R1923:Stox2	UTSW	8	47,646,661 (GRCm39)	missense	probably damaging	1.00
R2311:Stox2	UTSW	8	47,645,013 (GRCm39)	missense	probably damaging	1.00
R3196:Stox2	UTSW	8	47,645,865 (GRCm39)	missense	probably damaging	0.99
R3715:Stox2	UTSW	8	47,866,187 (GRCm39)	missense	possibly damaging	0.90
R4300:Stox2	UTSW	8	47,647,027 (GRCm39)	nonsense	probably null
R4534:Stox2	UTSW	8	47,646,414 (GRCm39)	missense	probably damaging	1.00
R4600:Stox2	UTSW	8	47,645,970 (GRCm39)	missense	probably damaging	1.00
R4601:Stox2	UTSW	8	47,645,970 (GRCm39)	missense	probably damaging	1.00
R4602:Stox2	UTSW	8	47,645,970 (GRCm39)	missense	probably damaging	1.00
R4603:Stox2	UTSW	8	47,645,970 (GRCm39)	missense	probably damaging	1.00
R4610:Stox2	UTSW	8	47,645,970 (GRCm39)	missense	probably damaging	1.00
R4624:Stox2	UTSW	8	47,646,851 (GRCm39)	missense	probably damaging	1.00
R4672:Stox2	UTSW	8	47,645,141 (GRCm39)	missense	probably damaging	1.00
R4888:Stox2	UTSW	8	47,656,198 (GRCm39)	missense	probably damaging	1.00
R4944:Stox2	UTSW	8	47,866,300 (GRCm39)	missense	possibly damaging	0.46
R5331:Stox2	UTSW	8	47,866,662 (GRCm39)	utr 5 prime	probably benign
R5367:Stox2	UTSW	8	47,656,260 (GRCm39)	missense	probably damaging	1.00
R5471:Stox2	UTSW	8	47,646,548 (GRCm39)	missense	probably damaging	0.96
R5561:Stox2	UTSW	8	47,646,041 (GRCm39)	missense	probably damaging	1.00
R5630:Stox2	UTSW	8	47,644,925 (GRCm39)	missense	probably damaging	1.00
R5719:Stox2	UTSW	8	47,866,172 (GRCm39)	nonsense	probably null
R5733:Stox2	UTSW	8	47,866,172 (GRCm39)	nonsense	probably null
R5996:Stox2	UTSW	8	47,656,182 (GRCm39)	missense	possibly damaging	0.93
R6170:Stox2	UTSW	8	47,645,055 (GRCm39)	missense	probably benign	0.02
R6458:Stox2	UTSW	8	47,645,079 (GRCm39)	missense	possibly damaging	0.66
R6786:Stox2	UTSW	8	47,639,500 (GRCm39)	missense	probably damaging	1.00
R6815:Stox2	UTSW	8	47,646,136 (GRCm39)	missense	probably damaging	1.00
R6951:Stox2	UTSW	8	47,656,167 (GRCm39)	missense	probably damaging	1.00
R7193:Stox2	UTSW	8	47,639,489 (GRCm39)	missense	probably benign
R7330:Stox2	UTSW	8	47,645,271 (GRCm39)	missense	possibly damaging	0.61
R7552:Stox2	UTSW	8	47,656,154 (GRCm39)	critical splice donor site	probably null
R8001:Stox2	UTSW	8	47,639,512 (GRCm39)	missense	probably benign	0.06
R8266:Stox2	UTSW	8	47,645,060 (GRCm39)	missense	probably damaging	0.99
R8506:Stox2	UTSW	8	47,645,108 (GRCm39)	missense	possibly damaging	0.79
R8935:Stox2	UTSW	8	47,645,895 (GRCm39)	missense	possibly damaging	0.66
R9261:Stox2	UTSW	8	47,645,441 (GRCm39)	missense	possibly damaging	0.78
R9325:Stox2	UTSW	8	47,647,095 (GRCm39)	missense	probably benign	0.45
R9505:Stox2	UTSW	8	47,645,304 (GRCm39)	missense	probably benign	0.28
X0027:Stox2	UTSW	8	47,646,875 (GRCm39)	missense	possibly damaging	0.95
Z1177:Stox2	UTSW	8	47,647,085 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGCTGTGGATCTTACAGAGGTAC -3'
(R):5'- AAAATGTGCGCAGAGTCCTC -3'

Sequencing Primer
(F):5'- TGTGGATCTTACAGAGGTACAAAATG -3'
(R):5'- CCTCGGTAGACGGATGAAGC -3'

Posted On

2016-08-04