Mutagenetix > Incidental Mutation

Incidental Mutation 'R6786:Stox2'

532375

Institutional Source

Beutler Lab

Gene Symbol

Stox2

Ensembl Gene

ENSMUSG00000038143

Gene Name

storkhead box 2

Synonyms

4933409N07Rik

MMRRC Submission

044900-MU

Accession Numbers

Essential gene?

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

Stock #

R6786 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

47633083-47866943 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 47639500 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Cysteine at position 898 (F898C)

Ref Sequence

ENSEMBL: ENSMUSP00000078190 (fasta)

Gene Model

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

AlphaFold

Q499E5

Predicted Effect

probably damaging
Transcript: ENSMUST00000079195
AA Change: F898C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000078190
Gene: ENSMUSG00000038143
AA Change: F898C

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

probably benign
Transcript: ENSMUST00000211737

Predicted Effect

probably benign
Transcript: ENSMUST00000211882

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 96.1%

Validation Efficiency

96% (66/69)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl7a	C	A	4: 56,744,116 (GRCm39)	Y214*	probably null	Het
Adnp2	A	G	18: 80,172,960 (GRCm39)	V483A	probably benign	Het
Aif1	C	T	17: 35,390,472 (GRCm39)	V93M	probably damaging	Het
Alpk2	A	G	18: 65,439,705 (GRCm39)	S563P	probably benign	Het
Ank2	A	T	3: 126,752,581 (GRCm39)	N378K	probably damaging	Het
Ano4	C	T	10: 88,828,732 (GRCm39)		probably null	Het
Asxl3	G	A	18: 22,658,497 (GRCm39)	C2169Y	probably damaging	Het
Atp2b1	T	C	10: 98,852,821 (GRCm39)	C101R	probably damaging	Het
Bcs1l	C	T	1: 74,629,844 (GRCm39)	R224C	probably damaging	Het
Car2	T	C	3: 14,951,710 (GRCm39)		probably benign	Het
Cbln1	T	C	8: 88,198,657 (GRCm39)	N71S	probably benign	Het
Cdh8	T	A	8: 99,950,579 (GRCm39)	T224S	probably benign	Het
Cdin1	A	G	2: 115,462,462 (GRCm39)	I65V	probably benign	Het
Cep131	G	A	11: 119,956,218 (GRCm39)	R1014W	probably damaging	Het
Cfap61	T	C	2: 145,887,363 (GRCm39)	S603P	possibly damaging	Het
Chd8	G	T	14: 52,464,125 (GRCm39)	L659I	probably benign	Het
Ckap5	G	A	2: 91,387,920 (GRCm39)	G255D	probably benign	Het
Clec18a	C	A	8: 111,807,572 (GRCm39)	W126L	probably benign	Het
Cux1	T	A	5: 136,596,085 (GRCm39)	N4Y	probably damaging	Het
Dgcr8	A	T	16: 18,101,693 (GRCm39)	Y196*	probably null	Het
Dnah14	A	T	1: 181,468,970 (GRCm39)	I1267F	probably benign	Het
Dock7	T	C	4: 98,949,529 (GRCm39)	N438D	probably benign	Het
Dock8	A	T	19: 25,160,386 (GRCm39)	H1763L	possibly damaging	Het
Elp1	T	C	4: 56,771,555 (GRCm39)	D914G	possibly damaging	Het
Fpr-rs6	A	T	17: 20,403,100 (GRCm39)	M87K	possibly damaging	Het
Gabrg1	A	G	5: 70,911,610 (GRCm39)	S339P	probably benign	Het
Gm10801	AAGT	AAGTAGT	2: 98,494,148 (GRCm39)		probably null	Het
Gm12695	A	G	4: 96,651,058 (GRCm39)	S132P	probably damaging	Het
Gm3443	T	A	19: 21,533,128 (GRCm39)	C31S	probably damaging	Het
Gzmf	A	T	14: 56,444,452 (GRCm39)	F40L	probably benign	Het
Herc1	TCCC	TCC	9: 66,408,470 (GRCm39)		probably null	Het
Lrguk	A	G	6: 34,072,522 (GRCm39)	E604G	probably benign	Het
Marveld3	C	A	8: 110,674,732 (GRCm39)	K361N	probably benign	Het
Mgat4b	A	T	11: 50,121,525 (GRCm39)	Y47F	probably damaging	Het
Mmel1	G	T	4: 154,976,885 (GRCm39)	E520*	probably null	Het
Msantd5f6	A	T	4: 73,321,843 (GRCm39)	M64K	possibly damaging	Het
Muc21	T	C	17: 35,934,057 (GRCm39)		probably benign	Het
Myod1	A	G	7: 46,027,741 (GRCm39)	T294A	probably benign	Het
Nfix	A	T	8: 85,454,276 (GRCm39)	S219T	probably damaging	Het
Nr4a2	A	G	2: 57,001,920 (GRCm39)	F115L	probably benign	Het
Numa1	A	C	7: 101,641,845 (GRCm39)	M98L	probably benign	Het
Or5b105	T	C	19: 13,080,567 (GRCm39)	I28V	probably benign	Het
P3h1	C	T	4: 119,095,151 (GRCm39)	L303F	possibly damaging	Het
Pias4	G	A	10: 80,993,080 (GRCm39)	T5I	probably damaging	Het
Pik3ip1	A	G	11: 3,282,124 (GRCm39)	N68S	probably benign	Het
Pkdrej	T	C	15: 85,702,850 (GRCm39)	T1029A	probably benign	Het
Recql	A	T	6: 142,310,278 (GRCm39)	D517E	probably benign	Het
Sall2	G	T	14: 52,552,078 (GRCm39)	H372Q	probably damaging	Het
Scn8a	A	C	15: 100,930,096 (GRCm39)	I1436L	probably benign	Het
Slc4a5	T	C	6: 83,273,729 (GRCm39)		probably null	Het
Sumo2	A	T	11: 115,414,601 (GRCm39)		probably null	Het
Sycp2	C	T	2: 178,025,345 (GRCm39)	E366K	possibly damaging	Het
Tanc1	A	G	2: 59,622,150 (GRCm39)	K423R	probably benign	Het
Tbx21	T	A	11: 97,005,872 (GRCm39)	Q31L	possibly damaging	Het
Tfap2a	T	A	13: 40,882,230 (GRCm39)	N25I	probably damaging	Het
Tfdp1	C	T	8: 13,420,485 (GRCm39)	R105W	probably damaging	Het
Trav18	G	A	14: 54,069,122 (GRCm39)	V55I	probably benign	Het
Trgc1	A	T	13: 19,400,646 (GRCm39)	D125V	unknown	Het
Trim55	A	G	3: 19,726,938 (GRCm39)	D335G	probably benign	Het
Trim71	T	A	9: 114,341,772 (GRCm39)	T837S	probably benign	Het
Vmn1r56	T	C	7: 5,198,961 (GRCm39)	T219A	probably benign	Het
Vmn2r17	A	T	5: 109,575,695 (GRCm39)	T189S	probably benign	Het
Xaf1	A	G	11: 72,197,461 (GRCm39)	T146A	probably benign	Het
Zdbf2	T	C	1: 63,343,679 (GRCm39)	V686A	possibly damaging	Het
Zfp65	T	C	13: 67,856,130 (GRCm39)	H383R	probably damaging	Het
Zfp932	A	G	5: 110,157,606 (GRCm39)	T435A	probably damaging	Het
Zfp947	C	T	17: 22,364,750 (GRCm39)	G308D	probably benign	Het
Zswim3	T	A	2: 164,662,771 (GRCm39)	V417E	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
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
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'- TTAGCAGCACAGCTCAAGTAAC -3'
(R):5'- TCTTCCTTCAGGGGCTCAAC -3'

Sequencing Primer
(F):5'- CCCAACCTGTGCTTGAGATG -3'
(R):5'- CCTTCAGGGGCTCAACATATAATTG -3'

Posted On

2018-08-29