Mutagenetix > Incidental Mutation

Incidental Mutation 'R7558:Foxk2'

584898

Institutional Source

Beutler Lab

Gene Symbol

Foxk2

Ensembl Gene

ENSMUSG00000039275

Gene Name

forkhead box K2

Synonyms

1110054H05Rik, Ilf1, 5730434B08Rik

MMRRC Submission

045625-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7558 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

121150816-121200722 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 121178884 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 239 (S239P)

Ref Sequence

ENSEMBL: ENSMUSP00000101719 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000106113]

AlphaFold

Q3UCQ1

Predicted Effect

probably benign
Transcript: ENSMUST00000106113
AA Change: S239P

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000101719
Gene: ENSMUSG00000039275
AA Change: S239P

Domain	Start	End	E-Value	Type
low complexity region	2	32	N/A	INTRINSIC
FHA	47	119	9.96e-10	SMART
FH	247	338	2.2e-52	SMART
low complexity region	440	465	N/A	INTRINSIC
low complexity region	486	498	N/A	INTRINSIC

Meta Mutation Damage Score

0.0604

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

98% (56/57)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a fork head DNA binding domain. This protein can bind to the purine-rich motifs of the HIV long terminal repeat (LTR), and to the similar purine-rich motif in the interleukin 2 (IL2) promoter. It may be involved in the regulation of viral and cellular promoter elements. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700093K21Rik	G	T	11: 23,466,285 (GRCm39)		probably null	Het
Adgrg6	A	T	10: 14,307,351 (GRCm39)	M817K	probably damaging	Het
Adh6b	T	A	3: 138,058,297 (GRCm39)	D53E	probably benign	Het
Ap3d1	A	G	10: 80,558,755 (GRCm39)	V283A	possibly damaging	Het
Arhgap21	A	G	2: 20,860,421 (GRCm39)	Y1329H	probably damaging	Het
B3gnt9	T	C	8: 105,981,304 (GRCm39)	Y28C	probably benign	Het
Cactin	CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG	CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG	10: 81,157,152 (GRCm39)		probably benign	Het
Chrd	T	A	16: 20,557,304 (GRCm39)	V641E	probably damaging	Het
Clvs2	A	T	10: 33,419,460 (GRCm39)	I198N	probably damaging	Het
Cplane1	C	T	15: 8,254,851 (GRCm39)	R13C	unknown	Het
Dbndd2	T	C	2: 164,332,136 (GRCm39)	S120P	probably benign	Het
Dsg2	G	A	18: 20,727,291 (GRCm39)	V613I	probably benign	Het
Dsp	A	G	13: 38,352,742 (GRCm39)	M207V	probably benign	Het
Fignl2	T	C	15: 100,952,264 (GRCm39)	E6G	probably damaging	Het
Fmod	A	G	1: 133,968,731 (GRCm39)	Y257C	probably benign	Het
Fstl5	C	T	3: 76,337,092 (GRCm39)	T217I	possibly damaging	Het
Gdi1	G	A	X: 73,350,461 (GRCm39)	R55H	probably benign	Het
Gm45140	G	A	6: 87,798,511 (GRCm39)	S34F		Het
H2-Q6	A	G	17: 35,644,595 (GRCm39)	E128G	probably benign	Het
Hmmr	A	G	11: 40,624,156 (GRCm39)	F11L	probably damaging	Het
Igfbpl1	G	T	4: 45,813,497 (GRCm39)	N239K	probably damaging	Het
Itpr2	G	T	6: 146,292,363 (GRCm39)	D443E	probably damaging	Het
Kcnt2	A	T	1: 140,450,928 (GRCm39)	I736F	probably damaging	Het
Kctd11	A	T	11: 69,770,416 (GRCm39)	H207Q	probably benign	Het
Kif16b	A	T	2: 142,600,746 (GRCm39)	D462E	probably damaging	Het
Kif5a	G	A	10: 127,083,948 (GRCm39)	T81I	probably damaging	Het
Lemd2	C	A	17: 27,423,137 (GRCm39)	A86S	probably benign	Het
Lrp1b	T	C	2: 41,231,948 (GRCm39)	D1174G		Het
Lrrc8b	G	T	5: 105,629,577 (GRCm39)	W641L	probably damaging	Het
Malt1	T	C	18: 65,595,905 (GRCm39)	C438R	probably damaging	Het
Marchf8	T	C	6: 116,380,526 (GRCm39)	F126L	possibly damaging	Het
Nalcn	C	A	14: 123,723,797 (GRCm39)		probably null	Het
Nyap2	A	T	1: 81,247,088 (GRCm39)	T679S	probably benign	Het
Or52n4b	C	G	7: 108,143,928 (GRCm39)	Y65*	probably null	Het
Or5b3	T	A	19: 13,388,355 (GRCm39)	C141S	probably damaging	Het
Otog	C	A	7: 45,952,584 (GRCm39)	P419Q	probably damaging	Het
Pabpc4	T	G	4: 123,188,413 (GRCm39)	S341A	possibly damaging	Het
Pikfyve	T	A	1: 65,311,782 (GRCm39)	H2006Q	probably benign	Het
Ppp2r5e	A	T	12: 75,511,766 (GRCm39)	V319D	probably damaging	Het
Ptk2b	T	C	14: 66,391,628 (GRCm39)	S969G	possibly damaging	Het
Rasal2	G	A	1: 157,003,406 (GRCm39)	R436C	probably damaging	Het
Rpap1	A	T	2: 119,601,735 (GRCm39)	F742I	probably benign	Het
Ryr2	G	A	13: 11,814,711 (GRCm39)	T687M	probably damaging	Het
Sec16a	A	T	2: 26,329,746 (GRCm39)	F7L		Het
Slc14a2	A	G	18: 78,235,334 (GRCm39)	I143T	probably benign	Het
Slc22a26	T	A	19: 7,762,651 (GRCm39)	M430L	possibly damaging	Het
Smarcc1	C	A	9: 109,976,184 (GRCm39)	T157K	probably damaging	Het
Tmem87a	A	G	2: 120,204,991 (GRCm39)	I375T	probably benign	Het
Tmprss15	T	C	16: 78,800,302 (GRCm39)	I609V	possibly damaging	Het
Tnk2	C	A	16: 32,498,903 (GRCm39)	Q739K	probably benign	Het
Trio	T	A	15: 27,831,480 (GRCm39)	I1340F	possibly damaging	Het
Trpm6	T	C	19: 18,756,029 (GRCm39)	F91L	probably damaging	Het
Vax1	T	C	19: 59,158,416 (GRCm39)	T16A	unknown	Het
Vps13d	T	G	4: 144,881,150 (GRCm39)	H1481P		Het
Zbtb7a	A	G	10: 80,984,269 (GRCm39)	*570W	probably null	Het

Other mutations in Foxk2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00339:Foxk2	APN	11	121,190,560 (GRCm39)	missense	probably damaging	1.00
IGL00502:Foxk2	APN	11	121,187,925 (GRCm39)	splice site	probably benign
IGL02619:Foxk2	APN	11	121,190,402 (GRCm39)	splice site	probably benign
IGL03067:Foxk2	APN	11	121,176,394 (GRCm39)	missense	possibly damaging	0.87
R1843:Foxk2	UTSW	11	121,176,363 (GRCm39)	missense	probably benign	0.01
R2153:Foxk2	UTSW	11	121,151,213 (GRCm39)	missense	probably benign	0.08
R2847:Foxk2	UTSW	11	121,151,317 (GRCm39)	small insertion	probably benign
R3770:Foxk2	UTSW	11	121,151,317 (GRCm39)	small insertion	probably benign
R4024:Foxk2	UTSW	11	121,176,439 (GRCm39)	missense	possibly damaging	0.67
R6958:Foxk2	UTSW	11	121,190,563 (GRCm39)	missense	probably benign	0.16
R6968:Foxk2	UTSW	11	121,151,308 (GRCm39)	missense	possibly damaging	0.87
R7736:Foxk2	UTSW	11	121,190,473 (GRCm39)	missense	possibly damaging	0.92
R7902:Foxk2	UTSW	11	121,190,553 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GGAAGAACAATACCATGCTTCC -3'
(R):5'- TCCACAAGGATGCACAAGTCAG -3'

Sequencing Primer
(F):5'- CAATACCATGCTTCCTTTAAAGGGC -3'
(R):5'- TGAGCAGCCTCTGGACATATCTG -3'

Posted On

2019-10-17