Mutagenetix > Incidental Mutation

Incidental Mutation 'R1892:Stox1'

211618

Institutional Source

Beutler Lab

Gene Symbol

Stox1

Ensembl Gene

ENSMUSG00000036923

Gene Name

storkhead box 1

Synonyms

4732470K04Rik

MMRRC Submission

039912-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.222) question?

Stock #

R1892 (G1)

Quality Score

218

Status

Not validated

Chromosome

Chromosomal Location

62494822-62561907 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 62501178 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 461 (T461S)

Ref Sequence

ENSEMBL: ENSMUSP00000114652 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000126979] [ENSMUST00000133371] [ENSMUST00000148720]

AlphaFold

B2RQL2

Predicted Effect

probably benign
Transcript: ENSMUST00000126979

Predicted Effect

possibly damaging
Transcript: ENSMUST00000133371
AA Change: T461S

PolyPhen 2 Score 0.565 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000114652
Gene: ENSMUSG00000036923
AA Change: T461S

Domain	Start	End	E-Value	Type
low complexity region	31	71	N/A	INTRINSIC
low complexity region	80	93	N/A	INTRINSIC
Pfam:Stork_head	108	186	4.4e-37	PFAM
low complexity region	416	429	N/A	INTRINSIC
low complexity region	448	459	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000148720

SMART Domains

Protein: ENSMUSP00000116180
Gene: ENSMUSG00000036923

Domain	Start	End	E-Value	Type
Pfam:Stork_head	19	98	9e-40	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218980

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.4%
20x: 93.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene may function as a DNA binding protein. Mutations in this gene are associated with pre-eclampsia/eclampsia 4 (PEE4). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]

Allele List at MGI

Other mutations in this stock

Total: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	G	A	7: 119,815,561 (GRCm39)	A270T	probably benign	Het
Abcb7	A	T	X: 103,386,142 (GRCm39)	H97Q	probably damaging	Het
Adat3	T	C	10: 80,442,249 (GRCm39)	L29P	probably damaging	Het
AI987944	A	T	7: 41,024,020 (GRCm39)	C320S	probably damaging	Het
Asic4	C	T	1: 75,446,126 (GRCm39)	R285W	probably damaging	Het
Asic5	A	T	3: 81,928,293 (GRCm39)	I419L	probably damaging	Het
Batf	A	G	12: 85,736,102 (GRCm39)	K42E	probably damaging	Het
Bcar3	A	G	3: 122,301,785 (GRCm39)	N160S	probably benign	Het
Bco2	C	A	9: 50,461,863 (GRCm39)	G47V	probably damaging	Het
Bicc1	T	G	10: 70,794,614 (GRCm39)	K181T	probably damaging	Het
Brinp2	A	G	1: 158,082,542 (GRCm39)		probably null	Het
Cacng8	A	G	7: 3,463,568 (GRCm39)	D240G	possibly damaging	Het
Calca	A	G	7: 114,232,962 (GRCm39)	Y96H	probably damaging	Het
Cdh1	A	T	8: 107,390,882 (GRCm39)	K666I	possibly damaging	Het
Cdh16	A	T	8: 105,344,631 (GRCm39)	I500N	possibly damaging	Het
Chst14	A	G	2: 118,757,830 (GRCm39)	Y208C	probably damaging	Het
Chst9	T	C	18: 15,586,017 (GRCm39)	H182R	probably damaging	Het
Clk2	A	G	3: 89,082,502 (GRCm39)	I367M	possibly damaging	Het
Cobl	G	C	11: 12,203,258 (GRCm39)	S1066W	probably damaging	Het
Ctcfl	A	G	2: 172,960,478 (GRCm39)	V35A	probably benign	Het
Dchs1	G	T	7: 105,413,363 (GRCm39)	H1151N	probably benign	Het
Dennd1c	T	C	17: 57,374,083 (GRCm39)	T529A	probably benign	Het
Dnah11	A	T	12: 118,070,209 (GRCm39)	V1532D	possibly damaging	Het
Dync1h1	A	G	12: 110,612,738 (GRCm39)	Y2871C	probably damaging	Het
Dytn	T	C	1: 63,716,420 (GRCm39)	E51G	probably benign	Het
Esd	C	T	14: 74,987,113 (GRCm39)	A266V	probably damaging	Het
Gli1	T	C	10: 127,165,975 (GRCm39)	M1093V	possibly damaging	Het
Gm15446	A	G	5: 110,091,253 (GRCm39)	K502E	probably damaging	Het
Gm4076	T	A	13: 85,275,447 (GRCm39)		noncoding transcript	Het
Gm9830	A	G	9: 44,375,825 (GRCm39)		noncoding transcript	Het
Gm9938	G	A	19: 23,701,955 (GRCm39)		probably benign	Het
Grhl1	G	A	12: 24,634,909 (GRCm39)	R245H	probably damaging	Het
Hnrnpul1	A	T	7: 25,426,191 (GRCm39)	D553E	probably benign	Het
Hpn	G	A	7: 30,798,468 (GRCm39)	Q415*	probably null	Het
Hsd11b1	T	G	1: 192,906,068 (GRCm39)	M175L	probably benign	Het
Htra1	G	A	7: 130,586,799 (GRCm39)	V461I	possibly damaging	Het
Il1rl2	A	G	1: 40,366,694 (GRCm39)	H76R	probably damaging	Het
Insrr	G	A	3: 87,721,184 (GRCm39)	V1112M	probably damaging	Het
Ints9	T	C	14: 65,257,872 (GRCm39)	S351P	probably benign	Het
Itgav	T	A	2: 83,601,680 (GRCm39)	N350K	probably damaging	Het
Kdm4d	C	A	9: 14,375,613 (GRCm39)	V82L	probably benign	Het
Klc1	T	C	12: 111,748,261 (GRCm39)		probably null	Het
Kmt5c	T	A	7: 4,745,714 (GRCm39)	C69*	probably null	Het
Lgals3	T	G	14: 47,622,164 (GRCm39)	N193K	possibly damaging	Het
Morc2b	T	A	17: 33,354,748 (GRCm39)	D1008V	probably damaging	Het
Mpg	C	T	11: 32,181,720 (GRCm39)	Q243*	probably null	Het
Muc15	C	T	2: 110,567,697 (GRCm39)	R281*	probably null	Het
Ncstn	CAGCTCCACGAAG	CAG	1: 171,899,038 (GRCm39)		probably null	Het
Nek5	A	G	8: 22,597,745 (GRCm39)	M278T	probably benign	Het
Npas2	A	G	1: 39,384,503 (GRCm39)	T599A	probably benign	Het
Nrf1	A	G	6: 30,144,787 (GRCm39)	D519G	probably null	Het
Nup43	A	G	10: 7,549,373 (GRCm39)	H176R	probably damaging	Het
Nxpe2	T	C	9: 48,237,914 (GRCm39)	T114A	probably damaging	Het
Or10j3	T	C	1: 173,031,795 (GRCm39)	Y291H	probably damaging	Het
Or5p72	A	T	7: 108,022,147 (GRCm39)	Y123F	possibly damaging	Het
Or6c75	A	C	10: 129,336,902 (GRCm39)	I50L	probably benign	Het
Perm1	C	T	4: 156,302,340 (GRCm39)	R295C	probably benign	Het
Pik3ip1	G	T	11: 3,283,304 (GRCm39)	A135S	probably damaging	Het
Pira13	A	C	7: 3,827,573 (GRCm39)	C195G	probably benign	Het
Ppp4c	A	G	7: 126,385,452 (GRCm39)	V119A	probably damaging	Het
Prepl	A	G	17: 85,395,878 (GRCm39)	Y35H	possibly damaging	Het
Ptpn13	A	G	5: 103,649,545 (GRCm39)	Y316C	possibly damaging	Het
Pxk	C	T	14: 8,151,507 (GRCm38)	R441*	probably null	Het
Ranbp2	T	C	10: 58,299,921 (GRCm39)	V491A	probably benign	Het
Ranbp9	C	A	13: 43,569,933 (GRCm39)	C495F	possibly damaging	Het
Rfx8	A	T	1: 39,709,746 (GRCm39)		probably null	Het
Rnf111	T	A	9: 70,383,656 (GRCm39)	K92N	probably damaging	Het
Rtn1	A	G	12: 72,259,337 (GRCm39)	I772T	probably damaging	Het
Ryr2	T	A	13: 11,673,844 (GRCm39)	K72*	probably null	Het
Sergef	A	T	7: 46,264,040 (GRCm39)		probably null	Het
Sez6l	T	C	5: 112,620,665 (GRCm39)	N305S	probably damaging	Het
Slc40a1	A	T	1: 45,950,302 (GRCm39)	C383*	probably null	Het
Stab2	C	T	10: 86,773,913 (GRCm39)	C806Y	probably damaging	Het
Stard9	A	G	2: 120,524,189 (GRCm39)	T795A	probably benign	Het
Stk31	T	C	6: 49,415,408 (GRCm39)	I536T	probably damaging	Het
Suv39h2	T	C	2: 3,460,805 (GRCm39)	Y219C	probably damaging	Het
Tap1	T	G	17: 34,413,915 (GRCm39)	D643E	probably damaging	Het
Tbc1d2b	T	A	9: 90,100,996 (GRCm39)	I665F	probably damaging	Het
Tdrd6	T	C	17: 43,935,696 (GRCm39)	N1784S	probably benign	Het
Tmem14c	T	C	13: 41,174,633 (GRCm39)	F81L	possibly damaging	Het
Tnrc6c	A	G	11: 117,605,188 (GRCm39)	N108D	probably benign	Het
Tox3	A	T	8: 90,996,869 (GRCm39)	N131K	probably benign	Het
Tspear	T	A	10: 77,706,308 (GRCm39)	D359E	probably benign	Het
Ttc9	A	G	12: 81,678,551 (GRCm39)	I125V	probably benign	Het
Ttn	A	T	2: 76,728,531 (GRCm39)		probably benign	Het
Ubn2	C	T	6: 38,468,226 (GRCm39)	S980F	probably damaging	Het
Vcf1	G	T	11: 113,554,212 (GRCm39)	P161H	probably damaging	Het
Zfp362	T	A	4: 128,684,057 (GRCm39)	T30S	probably benign	Het
Zfp385c	A	C	11: 100,528,630 (GRCm39)	H32Q	probably damaging	Het
Zfp870	A	T	17: 33,102,863 (GRCm39)	H156Q	possibly damaging	Het
Zfp873	T	C	10: 81,897,080 (GRCm39)	C641R	probably damaging	Het
Zfp950	A	T	19: 61,107,549 (GRCm39)	H511Q	probably benign	Het

Other mutations in Stox1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00161:Stox1	APN	10	62,503,692 (GRCm39)	missense	probably damaging	1.00
IGL01462:Stox1	APN	10	62,500,461 (GRCm39)	missense	probably benign	0.14
IGL01558:Stox1	APN	10	62,503,651 (GRCm39)	missense	probably damaging	0.98
IGL02391:Stox1	APN	10	62,495,455 (GRCm39)	splice site	probably benign
IGL02454:Stox1	APN	10	62,503,605 (GRCm39)	missense	probably damaging	1.00
IGL02510:Stox1	APN	10	62,499,826 (GRCm39)	missense	probably benign	0.14
IGL02635:Stox1	APN	10	62,500,685 (GRCm39)	missense	probably benign	0.02
R1036:Stox1	UTSW	10	62,503,674 (GRCm39)	missense	probably damaging	1.00
R1486:Stox1	UTSW	10	62,500,415 (GRCm39)	missense	probably benign	0.06
R1751:Stox1	UTSW	10	62,495,445 (GRCm39)	missense	probably damaging	0.97
R1763:Stox1	UTSW	10	62,503,744 (GRCm39)	missense	probably damaging	1.00
R2128:Stox1	UTSW	10	62,500,314 (GRCm39)	missense	probably benign	0.42
R2406:Stox1	UTSW	10	62,499,945 (GRCm39)	missense	probably benign	0.01
R4078:Stox1	UTSW	10	62,501,810 (GRCm39)	missense	probably benign	0.00
R4414:Stox1	UTSW	10	62,495,348 (GRCm39)	missense	probably benign	0.00
R4415:Stox1	UTSW	10	62,495,348 (GRCm39)	missense	probably benign	0.00
R4416:Stox1	UTSW	10	62,495,348 (GRCm39)	missense	probably benign	0.00
R4417:Stox1	UTSW	10	62,495,348 (GRCm39)	missense	probably benign	0.00
R4799:Stox1	UTSW	10	62,501,516 (GRCm39)	missense	probably damaging	1.00
R5261:Stox1	UTSW	10	62,503,620 (GRCm39)	missense	probably damaging	0.98
R5323:Stox1	UTSW	10	62,499,812 (GRCm39)	missense	possibly damaging	0.71
R5885:Stox1	UTSW	10	62,500,627 (GRCm39)	missense	probably damaging	0.99
R6182:Stox1	UTSW	10	62,500,721 (GRCm39)	missense	probably damaging	0.99
R7548:Stox1	UTSW	10	62,501,946 (GRCm39)	missense	probably damaging	0.99
R7757:Stox1	UTSW	10	62,499,743 (GRCm39)	missense	probably damaging	1.00
R7765:Stox1	UTSW	10	62,501,778 (GRCm39)	missense	probably benign	0.26
R7846:Stox1	UTSW	10	62,495,305 (GRCm39)	missense	probably damaging	1.00
R7867:Stox1	UTSW	10	62,500,723 (GRCm39)	missense	probably benign	0.00
R8077:Stox1	UTSW	10	62,501,345 (GRCm39)	missense	probably damaging	1.00
R8409:Stox1	UTSW	10	62,501,795 (GRCm39)	missense	probably benign	0.00
R8413:Stox1	UTSW	10	62,500,754 (GRCm39)	missense	probably damaging	1.00
R8443:Stox1	UTSW	10	62,501,543 (GRCm39)	missense	probably damaging	1.00
R8822:Stox1	UTSW	10	62,499,900 (GRCm39)	missense	probably damaging	1.00
R8888:Stox1	UTSW	10	62,495,386 (GRCm39)	missense	probably benign	0.05
R8895:Stox1	UTSW	10	62,495,386 (GRCm39)	missense	probably benign	0.05
R8937:Stox1	UTSW	10	62,500,430 (GRCm39)	missense	probably damaging	0.96
R9012:Stox1	UTSW	10	62,500,611 (GRCm39)	missense	probably benign	0.00
R9201:Stox1	UTSW	10	62,501,352 (GRCm39)	missense	probably damaging	1.00
RF014:Stox1	UTSW	10	62,500,025 (GRCm39)	missense	probably benign	0.06
Z1176:Stox1	UTSW	10	62,499,797 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AAAGGCTTTTCCTCTGGCCC -3'
(R):5'- CGTCAATGGATATACTGACAACC -3'

Sequencing Primer
(F):5'- CTCTGGCCCGACGCAAG -3'
(R):5'- CAGGCATAAAGATTCCTCTAAAGAG -3'

Posted On

2014-06-30