Mutagenetix > Incidental Mutation

Incidental Mutation 'R9261:Stox2'

702253

Institutional Source

Beutler Lab

Gene Symbol

Stox2

Ensembl Gene

ENSMUSG00000038143

Gene Name

storkhead box 2

Synonyms

4933409N07Rik

MMRRC Submission

068990-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.176) question?

Stock #

R9261 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

47633083-47866943 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 47645441 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 673 (E673G)

Ref Sequence

ENSEMBL: ENSMUSP00000078190 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079195] [ENSMUST00000110367] [ENSMUST00000209337] [ENSMUST00000210030] [ENSMUST00000210153] [ENSMUST00000211737] [ENSMUST00000211882]

AlphaFold

Q499E5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000079195
AA Change: E673G

PolyPhen 2 Score 0.784 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000078190
Gene: ENSMUSG00000038143
AA Change: E673G

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

possibly damaging
Transcript: ENSMUST00000110367
AA Change: E611G

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000105996
Gene: ENSMUSG00000038143
AA Change: E611G

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

probably benign
Transcript: ENSMUST00000209337

Predicted Effect

possibly damaging
Transcript: ENSMUST00000210030
AA Change: E611G

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000210153

Predicted Effect

possibly damaging
Transcript: ENSMUST00000211737
AA Change: E673G

PolyPhen 2 Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000211882
AA Change: E737G

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

100% (73/73)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts7	A	G	9: 90,075,397 (GRCm39)	E1043G	probably benign	Het
Agps	T	G	2: 75,684,850 (GRCm39)		probably benign	Het
Ahnak	A	G	19: 8,993,503 (GRCm39)	E4929G	possibly damaging	Het
Arl6ip4	T	A	5: 124,256,146 (GRCm39)		probably benign	Het
Cdhr17	T	C	5: 17,006,547 (GRCm39)	L88P	possibly damaging	Het
Clca3a2	G	T	3: 144,525,158 (GRCm39)	H25N	probably benign	Het
Cubn	C	T	2: 13,283,262 (GRCm39)	D3559N	probably damaging	Het
Dmac2	T	A	7: 25,320,345 (GRCm39)	W15R	probably benign	Het
Dzank1	T	C	2: 144,355,344 (GRCm39)	E117G	probably benign	Het
Eml2	A	G	7: 18,913,743 (GRCm39)	T187A	probably benign	Het
Eml5	A	G	12: 98,822,287 (GRCm39)	V747A	probably damaging	Het
Esr1	T	A	10: 4,919,271 (GRCm39)	S454T	probably damaging	Het
Evc2	A	G	5: 37,537,895 (GRCm39)	T528A	probably benign	Het
Fbxo5	T	C	10: 5,752,325 (GRCm39)	N96S	probably damaging	Het
Fcnb	T	C	2: 27,969,636 (GRCm39)	T144A	probably damaging	Het
Fgf20	T	A	8: 40,739,951 (GRCm39)		probably benign	Het
Gcg	T	C	2: 62,306,408 (GRCm39)		probably benign	Het
Gfm2	T	A	13: 97,299,369 (GRCm39)	Y363*	probably null	Het
Grwd1	C	T	7: 45,475,381 (GRCm39)	R387Q	probably benign	Het
Gstt2	C	T	10: 75,669,511 (GRCm39)	D59N	possibly damaging	Het
Herc1	A	G	9: 66,412,129 (GRCm39)	N4783S	probably damaging	Het
Hydin	C	A	8: 110,994,047 (GRCm39)	A27E	unknown	Het
Iigp1c	T	A	18: 60,353,820 (GRCm39)		probably benign	Het
Ikbip	A	G	10: 90,932,249 (GRCm39)	T298A	possibly damaging	Het
Il1rap	A	G	16: 26,541,724 (GRCm39)	N655S	possibly damaging	Het
Kif21b	C	T	1: 136,077,162 (GRCm39)	R395C	probably damaging	Het
Kif3a	ATTGACG	A	11: 53,484,248 (GRCm39)		probably benign	Het
Klhl40	A	G	9: 121,609,002 (GRCm39)	D389G	probably benign	Het
Ly6g	A	G	15: 75,030,529 (GRCm39)	T116A	probably damaging	Het
Mast2	A	G	4: 116,165,900 (GRCm39)	L1276P	probably damaging	Het
Mitf	A	G	6: 97,990,704 (GRCm39)	Q369R	possibly damaging	Het
Mtus2	T	A	5: 148,243,453 (GRCm39)	Y192*	probably null	Het
Nav1	T	A	1: 135,388,095 (GRCm39)	E1109D	unknown	Het
Nav2	A	G	7: 49,246,904 (GRCm39)	E2143G	probably damaging	Het
Nedd4	A	G	9: 72,584,656 (GRCm39)	Q119R	possibly damaging	Het
Nek9	A	G	12: 85,359,841 (GRCm39)	V537A	probably damaging	Het
Notum	G	T	11: 120,550,974 (GRCm39)	T64K		Het
Nudcd2	A	G	11: 40,630,026 (GRCm39)	N144S	probably damaging	Het
Nup205	A	G	6: 35,176,792 (GRCm39)	E596G	probably benign	Het
Olfml1	T	A	7: 107,167,007 (GRCm39)	L12Q	possibly damaging	Het
Or4f60	T	A	2: 111,902,718 (GRCm39)	D70V	probably damaging	Het
Or51k1	C	T	7: 103,661,336 (GRCm39)	C191Y	probably damaging	Het
Or52n2c	A	T	7: 104,574,305 (GRCm39)	M222K	probably benign	Het
Or56b2	T	A	7: 104,337,260 (GRCm39)	F13I	probably benign	Het
Or6b13	A	G	7: 139,782,563 (GRCm39)	V40A	probably benign	Het
Ovgp1	T	C	3: 105,893,883 (GRCm39)		probably benign	Het
Padi4	T	C	4: 140,479,926 (GRCm39)	N409S	probably damaging	Het
Pam	T	A	1: 97,903,620 (GRCm39)	T38S	probably benign	Het
Piezo2	T	C	18: 63,208,868 (GRCm39)	I1382V	possibly damaging	Het
Pla2g12a	A	T	3: 129,684,080 (GRCm39)	Q153L	possibly damaging	Het
Pla2g4e	T	A	2: 120,019,910 (GRCm39)	H180L	probably benign	Het
Pou2af2	T	A	9: 51,202,998 (GRCm39)	H52L	probably benign	Het
Pprc1	A	G	19: 46,050,868 (GRCm39)	T169A	unknown	Het
Prrc2c	A	G	1: 162,505,622 (GRCm39)	I2592T	possibly damaging	Het
Ptchd3	T	A	11: 121,722,956 (GRCm39)	I348N	probably damaging	Het
Ralgps1	T	C	2: 33,226,571 (GRCm39)	D40G	probably damaging	Het
Rbm19	T	C	5: 120,256,810 (GRCm39)	F41S	probably damaging	Het
Rbsn	T	C	6: 92,166,797 (GRCm39)	M616V	probably benign	Het
Ryr1	A	T	7: 28,751,813 (GRCm39)	M3660K	possibly damaging	Het
Sidt2	A	T	9: 45,861,396 (GRCm39)	V246E	probably damaging	Het
Slc4a4	T	C	5: 89,347,568 (GRCm39)	W770R	probably damaging	Het
Spata31d1c	T	A	13: 65,184,680 (GRCm39)	S741T	probably damaging	Het
Stk19	T	G	17: 35,051,432 (GRCm39)	Y108S	possibly damaging	Het
Tax1bp1	T	A	6: 52,714,116 (GRCm39)	C271S	probably benign	Het
Tmem161a	C	A	8: 70,631,572 (GRCm39)	R167S	probably damaging	Het
Tnrc6c	T	A	11: 117,605,105 (GRCm39)	V80E	probably damaging	Het
Trpa1	G	A	1: 14,963,465 (GRCm39)	H586Y	probably damaging	Het
Tsr1	A	G	11: 74,799,056 (GRCm39)	T746A	probably damaging	Het
Uqcrfs1	T	C	13: 30,724,794 (GRCm39)	I249V	probably damaging	Het
Vmn2r84	C	A	10: 130,229,976 (GRCm39)	E45D	probably benign	Het
Vnn3	A	G	10: 23,741,607 (GRCm39)	E304G	probably damaging	Het
Zfp541	G	A	7: 15,816,029 (GRCm39)	V839M	possibly damaging	Het
Zfp62	A	G	11: 49,108,350 (GRCm39)	K814E	probably benign	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
R5349:Stox2	UTSW	8	47,740,951 (GRCm39)	missense	possibly damaging	0.70
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
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'- AGTTTCTCACAACGGCCTG -3'
(R):5'- TTTCAGTGCAACACCTCGAG -3'

Sequencing Primer
(F):5'- GCCTGGCAGTGTGTCAAC -3'
(R):5'- ACCTCGAGTGAGACCGTACTC -3'

Posted On

2022-03-25