Mutagenetix > Incidental Mutation

Incidental Mutation 'R2128:Stox1'

227740

Institutional Source

Beutler Lab

Gene Symbol

Stox1

Ensembl Gene

ENSMUSG00000036923

Gene Name

storkhead box 1

Synonyms

4732470K04Rik

MMRRC Submission

040131-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.295) question?

Stock #

R2128 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

62659043-62726128 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 62664535 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 749 (T749A)

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

probably benign
Transcript: ENSMUST00000133371
AA Change: T749A

PolyPhen 2 Score 0.419 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000114652
Gene: ENSMUSG00000036923
AA Change: T749A

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	A	G	10: 87,230,204 (GRCm38)	E249G	possibly damaging	Het
2610028H24Rik	A	G	10: 76,457,515 (GRCm38)	M136V	possibly damaging	Het
4930523C07Rik	A	T	1: 160,075,375 (GRCm38)	K72*	probably null	Het
Abca6	A	G	11: 110,219,649 (GRCm38)	I558T	probably benign	Het
Acot10	T	C	15: 20,666,626 (GRCm38)	T10A	probably benign	Het
Adgrl4	T	A	3: 151,500,201 (GRCm38)	D233E	probably benign	Het
Adgrv1	A	T	13: 81,557,080 (GRCm38)	F1537Y	probably damaging	Het
Akap2	A	G	4: 57,854,890 (GRCm38)	Y134C	probably benign	Het
Aqp3	T	A	4: 41,098,061 (GRCm38)	I17F	probably benign	Het
Arap1	T	A	7: 101,409,320 (GRCm38)	L1375H	probably damaging	Het
Aspm	T	C	1: 139,457,635 (GRCm38)	V339A	probably benign	Het
Atp13a3	G	A	16: 30,354,276 (GRCm38)	A261V	probably damaging	Het
Casp8ap2	T	C	4: 32,640,142 (GRCm38)	Y399H	probably benign	Het
Cept1	A	G	3: 106,512,879 (GRCm38)	V213A	probably damaging	Het
Cit	A	G	5: 115,985,507 (GRCm38)	D1469G	possibly damaging	Het
Cnga2	A	G	X: 72,007,788 (GRCm38)	Y182C	possibly damaging	Het
Cox20	A	G	1: 178,321,947 (GRCm38)	I54V	probably benign	Het
Dhx8	C	A	11: 101,738,409 (GRCm38)	D261E	probably benign	Het
Dnah2	A	T	11: 69,458,185 (GRCm38)	I2486N	probably benign	Het
Dnah5	A	G	15: 28,408,321 (GRCm38)	Q3484R	probably benign	Het
Drd1	T	C	13: 54,053,553 (GRCm38)	Y207C	probably damaging	Het
Dtl	C	T	1: 191,558,110 (GRCm38)	V222I	probably damaging	Het
Dync1h1	T	C	12: 110,640,882 (GRCm38)	Y2636H	probably damaging	Het
Endog	C	A	2: 30,172,036 (GRCm38)	D154E	probably benign	Het
Epc1	A	T	18: 6,462,954 (GRCm38)	V14E	probably damaging	Het
Ercc4	C	A	16: 13,147,934 (GRCm38)	T810K	probably damaging	Het
Fam43b	T	A	4: 138,395,988 (GRCm38)	N7I	possibly damaging	Het
Fgd1	T	C	X: 151,086,217 (GRCm38)		probably null	Het
Filip1	G	T	9: 79,819,330 (GRCm38)	T669N	probably damaging	Het
Fndc1	A	G	17: 7,778,665 (GRCm38)		probably benign	Het
Foxk1	C	A	5: 142,435,188 (GRCm38)	S189*	probably null	Het
Gatm	T	C	2: 122,600,536 (GRCm38)	N274S	probably damaging	Het
Gdf9	A	G	11: 53,437,507 (GRCm38)	Y430C	probably damaging	Het
Gga1	C	T	15: 78,888,448 (GRCm38)	P260S	probably damaging	Het
Gm11595	A	T	11: 99,772,501 (GRCm38)	C118S	unknown	Het
Gm382	G	T	X: 127,062,651 (GRCm38)	V820L	possibly damaging	Het
Gzmk	T	A	13: 113,172,014 (GRCm38)	I179F	probably damaging	Het
Hsp90b1	T	C	10: 86,695,706 (GRCm38)	D421G	probably damaging	Het
Hus1	A	G	11: 9,006,011 (GRCm38)	M174T	probably damaging	Het
Ifngr2	T	A	16: 91,562,873 (GRCm38)	Y289*	probably null	Het
Il6st	T	A	13: 112,504,175 (GRCm38)	H828Q	probably benign	Het
Impg2	T	A	16: 56,218,379 (GRCm38)	Y127N	probably damaging	Het
Irf3	T	A	7: 45,001,744 (GRCm38)	W345R	probably damaging	Het
Kif1b	G	A	4: 149,187,640 (GRCm38)	S1568L	possibly damaging	Het
Klhl42	A	G	6: 147,101,753 (GRCm38)	T342A	probably benign	Het
Kndc1	G	T	7: 139,930,112 (GRCm38)	R1289L	probably damaging	Het
Knl1	A	T	2: 119,071,819 (GRCm38)	T1334S	possibly damaging	Het
L3mbtl3	G	T	10: 26,313,868 (GRCm38)	D499E	unknown	Het
Ldhd	T	A	8: 111,627,048 (GRCm38)	M478L	probably benign	Het
Loxl4	C	G	19: 42,603,963 (GRCm38)	E385D	probably damaging	Het
Lrriq1	G	A	10: 103,214,857 (GRCm38)	T678I	probably benign	Het
Macf1	T	A	4: 123,492,774 (GRCm38)	I1017F	probably benign	Het
Madcam1	A	G	10: 79,665,572 (GRCm38)	E157G	possibly damaging	Het
Mamdc4	T	C	2: 25,569,258 (GRCm38)	D195G	probably damaging	Het
Mctp1	A	G	13: 76,824,822 (GRCm38)	D648G	probably damaging	Het
Mycbp2	T	C	14: 103,201,230 (GRCm38)	M2072V	probably benign	Het
Nck1	A	G	9: 100,497,547 (GRCm38)		probably null	Het
Ndufaf4	G	T	4: 24,898,608 (GRCm38)	D55Y	probably damaging	Het
Nek11	A	T	9: 105,300,361 (GRCm38)	D230E	probably benign	Het
Nit2	T	C	16: 57,161,196 (GRCm38)	K67E	possibly damaging	Het
Olfr2	T	C	7: 107,001,248 (GRCm38)	D204G	probably damaging	Het
Olfr290	T	C	7: 84,916,493 (GRCm38)	F238S	probably damaging	Het
Olfr527	C	T	7: 140,336,429 (GRCm38)	T189M	probably damaging	Het
Olfr802	A	T	10: 129,682,532 (GRCm38)	V69E	possibly damaging	Het
Pccb	G	C	9: 100,985,831 (GRCm38)	D347E	probably damaging	Het
Plcl1	T	A	1: 55,697,838 (GRCm38)	F779L	probably damaging	Het
Prune2	C	A	19: 17,122,422 (GRCm38)	D1763E	probably benign	Het
Pwwp2a	A	G	11: 43,705,318 (GRCm38)	S437G	probably benign	Het
Rabgap1l	A	T	1: 160,738,957 (GRCm38)	D90E	probably benign	Het
Rapgef4	T	A	2: 72,226,553 (GRCm38)	I552N	possibly damaging	Het
Scn7a	A	T	2: 66,697,986 (GRCm38)	I720K	probably damaging	Het
Scn9a	T	A	2: 66,526,654 (GRCm38)	N1101I	probably damaging	Het
Siglec1	A	T	2: 131,080,497 (GRCm38)	Y553N	probably damaging	Het
Slc22a23	A	G	13: 34,203,970 (GRCm38)	L381P	possibly damaging	Het
Slc7a11	T	A	3: 50,384,109 (GRCm38)	T284S	probably damaging	Het
Slc8a2	T	A	7: 16,140,492 (GRCm38)		probably null	Het
Snx29	T	A	16: 11,400,971 (GRCm38)	S224T	probably damaging	Het
Tg	A	G	15: 66,694,894 (GRCm38)	I1264V	probably benign	Het
Tmem110	T	C	14: 30,866,624 (GRCm38)	Y103H	probably damaging	Het
Top2a	A	C	11: 99,009,807 (GRCm38)	V609G	probably damaging	Het
Trmt44	G	A	5: 35,574,832 (GRCm38)	P72S	probably benign	Het
Ttll3	G	C	6: 113,412,934 (GRCm38)	S760T	probably benign	Het
Ttn	G	A	2: 76,833,897 (GRCm38)		probably benign	Het
Ttn	T	C	2: 76,748,678 (GRCm38)	D23957G	probably damaging	Het
Ubxn1	T	G	19: 8,872,070 (GRCm38)	V59G	probably benign	Het
Ubxn4	T	C	1: 128,244,510 (GRCm38)	S14P	probably benign	Het
Uso1	T	A	5: 92,195,370 (GRCm38)	M771K	probably benign	Het
Utp20	A	G	10: 88,814,055 (GRCm38)	F431S	probably damaging	Het
Vmn1r206	T	C	13: 22,620,612 (GRCm38)	S142G	probably benign	Het
Vmn2r19	A	G	6: 123,308,330 (GRCm38)		probably null	Het
Vps36	G	T	8: 22,218,289 (GRCm38)		probably null	Het
Wnt3	A	G	11: 103,812,648 (GRCm38)	H319R	possibly damaging	Het
Zbtb26	G	T	2: 37,436,551 (GRCm38)	Q158K	probably benign	Het
Zfp648	T	C	1: 154,204,607 (GRCm38)	S171P	probably benign	Het

Other mutations in Stox1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00161:Stox1	APN	10	62,667,913 (GRCm38)	missense	probably damaging	1.00
IGL01462:Stox1	APN	10	62,664,682 (GRCm38)	missense	probably benign	0.14
IGL01558:Stox1	APN	10	62,667,872 (GRCm38)	missense	probably damaging	0.98
IGL02391:Stox1	APN	10	62,659,676 (GRCm38)	splice site	probably benign
IGL02454:Stox1	APN	10	62,667,826 (GRCm38)	missense	probably damaging	1.00
IGL02510:Stox1	APN	10	62,664,047 (GRCm38)	missense	probably benign	0.14
IGL02635:Stox1	APN	10	62,664,906 (GRCm38)	missense	probably benign	0.02
R1036:Stox1	UTSW	10	62,667,895 (GRCm38)	missense	probably damaging	1.00
R1486:Stox1	UTSW	10	62,664,636 (GRCm38)	missense	probably benign	0.06
R1751:Stox1	UTSW	10	62,659,666 (GRCm38)	missense	probably damaging	0.97
R1763:Stox1	UTSW	10	62,667,965 (GRCm38)	missense	probably damaging	1.00
R1892:Stox1	UTSW	10	62,665,399 (GRCm38)	missense	possibly damaging	0.56
R2406:Stox1	UTSW	10	62,664,166 (GRCm38)	missense	probably benign	0.01
R4078:Stox1	UTSW	10	62,666,031 (GRCm38)	missense	probably benign	0.00
R4414:Stox1	UTSW	10	62,659,569 (GRCm38)	missense	probably benign	0.00
R4415:Stox1	UTSW	10	62,659,569 (GRCm38)	missense	probably benign	0.00
R4416:Stox1	UTSW	10	62,659,569 (GRCm38)	missense	probably benign	0.00
R4417:Stox1	UTSW	10	62,659,569 (GRCm38)	missense	probably benign	0.00
R4799:Stox1	UTSW	10	62,665,737 (GRCm38)	missense	probably damaging	1.00
R5261:Stox1	UTSW	10	62,667,841 (GRCm38)	missense	probably damaging	0.98
R5323:Stox1	UTSW	10	62,664,033 (GRCm38)	missense	possibly damaging	0.71
R5885:Stox1	UTSW	10	62,664,848 (GRCm38)	missense	probably damaging	0.99
R6182:Stox1	UTSW	10	62,664,942 (GRCm38)	missense	probably damaging	0.99
R7548:Stox1	UTSW	10	62,666,167 (GRCm38)	missense	probably damaging	0.99
R7757:Stox1	UTSW	10	62,663,964 (GRCm38)	missense	probably damaging	1.00
R7765:Stox1	UTSW	10	62,665,999 (GRCm38)	missense	probably benign	0.26
R7846:Stox1	UTSW	10	62,659,526 (GRCm38)	missense	probably damaging	1.00
R7867:Stox1	UTSW	10	62,664,944 (GRCm38)	missense	probably benign	0.00
R8077:Stox1	UTSW	10	62,665,566 (GRCm38)	missense	probably damaging	1.00
R8409:Stox1	UTSW	10	62,666,016 (GRCm38)	missense	probably benign	0.00
R8413:Stox1	UTSW	10	62,664,975 (GRCm38)	missense	probably damaging	1.00
R8443:Stox1	UTSW	10	62,665,764 (GRCm38)	missense	probably damaging	1.00
R8822:Stox1	UTSW	10	62,664,121 (GRCm38)	missense	probably damaging	1.00
R8888:Stox1	UTSW	10	62,659,607 (GRCm38)	missense	probably benign	0.05
R8895:Stox1	UTSW	10	62,659,607 (GRCm38)	missense	probably benign	0.05
R8937:Stox1	UTSW	10	62,664,651 (GRCm38)	missense	probably damaging	0.96
R9012:Stox1	UTSW	10	62,664,832 (GRCm38)	missense	probably benign	0.00
R9201:Stox1	UTSW	10	62,665,573 (GRCm38)	missense	probably damaging	1.00
RF014:Stox1	UTSW	10	62,664,246 (GRCm38)	missense	probably benign	0.06
Z1176:Stox1	UTSW	10	62,664,018 (GRCm38)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AAAACAACCCCGTGGCCTTG -3'
(R):5'- GTGCAAATCGTTTGAGGACTC -3'

Sequencing Primer
(F):5'- GTACCAAGGATTCCTTTCAATGGC -3'
(R):5'- TCGTTTGAGGACTCATGAAAGAC -3'

Posted On

2014-09-17