Mutagenetix > Incidental Mutation

Incidental Mutation 'R6182:Stox1'

487044

Institutional Source

Beutler Lab

Gene Symbol

Stox1

Ensembl Gene

ENSMUSG00000036923

Gene Name

storkhead box 1

Synonyms

4732470K04Rik

MMRRC Submission

044324-MU

Accession Numbers

Essential gene?

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

Stock #

R6182 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

62494822-62561907 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 62500721 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 613 (L613P)

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 damaging
Transcript: ENSMUST00000133371
AA Change: L613P

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000114652
Gene: ENSMUSG00000036923
AA Change: L613P

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: 99.9%
3x: 99.6%
10x: 98.3%
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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts7	T	C	9: 90,074,489 (GRCm39)	S884P	probably benign	Het
Akap13	C	A	7: 75,236,028 (GRCm39)	A201E	probably benign	Het
Ces1f	T	G	8: 93,983,124 (GRCm39)	E540A	probably benign	Het
Chid1	T	A	7: 141,108,415 (GRCm39)	M137L	probably benign	Het
Chsy3	A	G	18: 59,312,414 (GRCm39)	T296A	probably benign	Het
Clec4f	A	G	6: 83,622,284 (GRCm39)	V519A	probably benign	Het
Clk4	T	A	11: 51,159,009 (GRCm39)	F41I	possibly damaging	Het
Cntnap5c	A	G	17: 58,183,390 (GRCm39)	D32G	probably benign	Het
Ctsl	T	C	13: 64,515,786 (GRCm39)	Y95C	probably damaging	Het
Cyp2c54	T	C	19: 40,036,005 (GRCm39)	M302V	probably benign	Het
Cyp2c65	C	G	19: 39,049,606 (GRCm39)	L45V	probably benign	Het
Cyp2j6	G	C	4: 96,424,323 (GRCm39)	L145V	probably damaging	Het
Daam1	C	T	12: 72,006,661 (GRCm39)	Q693*	probably null	Het
Dgcr8	A	T	16: 18,098,172 (GRCm39)	D406E	probably benign	Het
Dock2	G	T	11: 34,179,476 (GRCm39)	P1760Q	probably damaging	Het
Epb41l2	G	A	10: 25,383,715 (GRCm39)	R940H	probably damaging	Het
Erc2	A	C	14: 28,039,210 (GRCm39)	D951A	probably damaging	Het
Fbxw7	T	C	3: 84,723,078 (GRCm39)		probably null	Het
Frem2	T	A	3: 53,555,390 (GRCm39)	I1716F	probably damaging	Het
Fus	A	G	7: 127,576,465 (GRCm39)	D295G	probably damaging	Het
Gm5093	A	G	17: 46,750,568 (GRCm39)	I153T	probably benign	Het
Gnptab	T	C	10: 88,265,342 (GRCm39)	V318A	possibly damaging	Het
Gpc2	T	C	5: 138,276,676 (GRCm39)	D150G	probably benign	Het
Gsc2	A	G	16: 17,731,483 (GRCm39)	*215R	probably null	Het
Hectd3	T	C	4: 116,857,476 (GRCm39)	S552P	probably damaging	Het
Katnal1	C	A	5: 148,841,407 (GRCm39)	K152N	possibly damaging	Het
Kcnh1	A	T	1: 191,873,361 (GRCm39)	T16S	probably damaging	Het
Lrrc71	T	C	3: 87,653,101 (GRCm39)	D105G	probably benign	Het
Mon2	T	C	10: 122,874,564 (GRCm39)		probably null	Het
Mroh9	G	A	1: 162,893,612 (GRCm39)	Q188*	probably null	Het
Mtmr14	A	G	6: 113,246,469 (GRCm39)	S81G	possibly damaging	Het
Nrap	T	A	19: 56,350,130 (GRCm39)	M628L	probably benign	Het
Odad3	A	G	9: 21,901,698 (GRCm39)	F553S	probably damaging	Het
Or1o1	T	A	17: 37,716,883 (GRCm39)	I148K	possibly damaging	Het
Or5k1	A	G	16: 58,617,655 (GRCm39)	Y185H	probably damaging	Het
Pals2	A	G	6: 50,175,206 (GRCm39)	I506V	probably benign	Het
Pate4	A	T	9: 35,519,586 (GRCm39)	S35T	possibly damaging	Het
Pkd1l1	T	C	11: 8,815,555 (GRCm39)	E1452G	probably benign	Het
Pld5	T	C	1: 175,872,420 (GRCm39)	D239G	probably benign	Het
Ppef2	C	T	5: 92,374,925 (GRCm39)	V728M	probably damaging	Het
Rasip1	TGCCGCCGCCGCCGCCGCCGCCGC	TGCCGCCGCCGCCGCCGCCGC	7: 45,277,879 (GRCm39)		probably benign	Het
Rsf1	G	A	7: 97,229,117 (GRCm39)		probably benign	Het
Serpina3c	C	A	12: 104,115,690 (GRCm39)	V285L	probably benign	Het
Serpinb9f	T	C	13: 33,518,405 (GRCm39)	S302P	probably damaging	Het
Sis	C	T	3: 72,811,626 (GRCm39)	V1642I	probably benign	Het
Slc12a4	G	A	8: 106,674,531 (GRCm39)	L601F	probably damaging	Het
Slc39a6	G	T	18: 24,734,013 (GRCm39)	N225K	probably benign	Het
Snrnp70	G	A	7: 45,026,497 (GRCm39)	R291*	probably null	Het
Spin1	C	T	13: 51,298,374 (GRCm39)	T131I	probably benign	Het
St18	T	G	1: 6,914,342 (GRCm39)		probably null	Het
Tgm3	T	G	2: 129,867,221 (GRCm39)	Y155*	probably null	Het
Tmem67	T	C	4: 12,051,402 (GRCm39)	I809V	probably benign	Het
Tnc	T	A	4: 63,927,033 (GRCm39)	D831V	probably damaging	Het
Ttll13	A	T	7: 79,909,981 (GRCm39)	E762D	probably benign	Het
Unc5b	A	T	10: 60,601,015 (GRCm39)	V937E	probably damaging	Het
Vmn1r34	A	G	6: 66,614,312 (GRCm39)	I142T	probably damaging	Het
Vmn2r104	A	G	17: 20,250,507 (GRCm39)	M588T	probably benign	Het
Vmn2r77	T	C	7: 86,460,957 (GRCm39)	V761A	probably damaging	Het
Wdr48	G	T	9: 119,753,832 (GRCm39)	G665W	probably damaging	Het
Xpot	T	A	10: 121,442,163 (GRCm39)	R550S	probably damaging	Het
Ydjc	A	G	16: 16,964,943 (GRCm39)	T33A	probably benign	Het
Zfc3h1	A	G	10: 115,226,764 (GRCm39)	T274A	probably benign	Het
Zfp202	G	A	9: 40,118,638 (GRCm39)	G17E	probably damaging	Het
Zfp788	T	A	7: 41,299,940 (GRCm39)	C859S	probably damaging	Het
Zscan4c	T	C	7: 10,740,709 (GRCm39)	M76T	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
R1892:Stox1	UTSW	10	62,501,178 (GRCm39)	missense	possibly damaging	0.56
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
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'- CTCAAACGATTTGCACCAGC -3'
(R):5'- CCGGAACAATGCCGTGATAAAC -3'

Sequencing Primer
(F):5'- ATTTGCACCAGCTGGGCAATC -3'
(R):5'- CAATGCCGTGATAAACTAGAAGC -3'

Posted On

2017-10-10