Mutagenetix > Incidental Mutation

Incidental Mutation 'R7042:Foxl2'

547117

Institutional Source

Beutler Lab

Gene Symbol

Foxl2

Ensembl Gene

ENSMUSG00000050397

Gene Name

forkhead box L2

Synonyms

Pfrk

MMRRC Submission

045141-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.720) question?

Stock #

R7042 (G1)

Quality Score

180.009

Status

Validated

Chromosome

Chromosomal Location

98837660-98840179 bp(+) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

T to A at 98837715 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1 (M1K)

Ref Sequence

ENSEMBL: ENSMUSP00000053297 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051312]

AlphaFold

O88470

Predicted Effect

probably null
Transcript: ENSMUST00000051312
AA Change: M1K

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000053297
Gene: ENSMUSG00000050397
AA Change: M1K

Domain	Start	End	E-Value	Type
low complexity region	27	45	N/A	INTRINSIC
FH	48	138	2.62e-59	SMART
low complexity region	140	153	N/A	INTRINSIC
low complexity region	159	183	N/A	INTRINSIC
low complexity region	201	210	N/A	INTRINSIC
low complexity region	217	239	N/A	INTRINSIC
low complexity region	272	319	N/A	INTRINSIC
low complexity region	322	340	N/A	INTRINSIC

Meta Mutation Damage Score

0.8877

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (54/54)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a forkhead transcription factor. The protein contains a fork-head DNA-binding domain and may play a role in ovarian development and function. Expansion of a polyalanine repeat region and other mutations in this gene are a cause of blepharophimosis syndrome and premature ovarian failure 3. [provided by RefSeq, Jul 2016]
PHENOTYPE: Mice homozygous for disruptions in this gene display increased postnatal lethality. Of animals surving to mating age, males are fully fertile and females are infertile. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg3	A	G	17: 57,192,098 (GRCm39)	S554G	possibly damaging	Het
Adcy7	G	T	8: 89,042,378 (GRCm39)	R415L	probably damaging	Het
Aox1	A	T	1: 58,141,759 (GRCm39)	I1182F	probably damaging	Het
Ccdc7b	T	A	8: 129,811,730 (GRCm39)	Y147N	probably benign	Het
Clcnka	A	G	4: 141,118,691 (GRCm39)	I398T	probably damaging	Het
Cst8	T	A	2: 148,641,796 (GRCm39)		probably null	Het
Dcxr	T	C	11: 120,617,841 (GRCm39)	D45G	possibly damaging	Het
Dhx38	A	T	8: 110,283,617 (GRCm39)	M510K	possibly damaging	Het
Dync2i1	T	C	12: 116,218,061 (GRCm39)	I182M	probably benign	Het
Ebf1	T	A	11: 44,882,338 (GRCm39)	H431Q	probably damaging	Het
Eml4	T	C	17: 83,768,999 (GRCm39)	I681T	probably damaging	Het
Etf1	T	C	18: 35,043,219 (GRCm39)	N164S	probably benign	Het
Fmo2	A	G	1: 162,708,226 (GRCm39)	V303A	probably damaging	Het
Gm3404	A	T	5: 146,462,969 (GRCm39)	E50D	probably benign	Het
Gpr61	G	A	3: 108,058,647 (GRCm39)	P5S	possibly damaging	Het
Hcrtr1	A	G	4: 130,024,653 (GRCm39)		probably benign	Het
Ier3ip1	T	A	18: 77,017,828 (GRCm39)	F3I	possibly damaging	Het
Ifi206	G	A	1: 173,308,808 (GRCm39)	P396L		Het
Ifi209	G	A	1: 173,470,236 (GRCm39)	V275I	probably benign	Het
Ighv1-69	T	C	12: 115,586,909 (GRCm39)	S75G	probably benign	Het
Kcnj3	A	T	2: 55,484,877 (GRCm39)	H325L	possibly damaging	Het
Klrk1	A	T	6: 129,593,734 (GRCm39)	S50T	possibly damaging	Het
Mfsd4b4	T	A	10: 39,768,514 (GRCm39)	Y193F	probably damaging	Het
Nlrp5	A	G	7: 23,116,905 (GRCm39)	I210V	possibly damaging	Het
Or4p20	T	A	2: 88,253,746 (GRCm39)	I208F	possibly damaging	Het
Or5w12	A	T	2: 87,501,935 (GRCm39)	Y259N	possibly damaging	Het
Or8b3	G	T	9: 38,314,196 (GRCm39)	G6C	probably damaging	Het
Or8d23	A	G	9: 38,841,622 (GRCm39)	S52G	possibly damaging	Het
Pax6	A	T	2: 105,526,718 (GRCm39)	H208L	probably benign	Het
Pgc	C	A	17: 48,044,745 (GRCm39)	Q331K	probably benign	Het
Phldb1	A	G	9: 44,605,721 (GRCm39)	S370P	probably damaging	Het
Pi4k2a	T	C	19: 42,093,337 (GRCm39)	I226T	probably benign	Het
Pick1	T	C	15: 79,132,965 (GRCm39)	S342P	probably damaging	Het
Plscr1	A	G	9: 92,153,588 (GRCm39)	M312V	probably damaging	Het
Ppp3cc	T	G	14: 70,462,468 (GRCm39)	K399Q	probably benign	Het
Qpctl	T	C	7: 18,880,943 (GRCm39)	H163R	probably benign	Het
Rab11fip5	A	G	6: 85,351,110 (GRCm39)	V134A	possibly damaging	Het
Rasal1	T	A	5: 120,802,025 (GRCm39)		probably null	Het
Rem2	T	A	14: 54,715,548 (GRCm39)	I171N	probably damaging	Het
Sec22a	T	A	16: 35,149,885 (GRCm39)	I214L	probably benign	Het
Setbp1	T	C	18: 79,130,070 (GRCm39)	D54G	probably damaging	Het
Slc27a2	C	T	2: 126,409,700 (GRCm39)	A294V	probably damaging	Het
Slfn14	T	A	11: 83,167,430 (GRCm39)	D695V	probably damaging	Het
Smc6	T	A	12: 11,359,301 (GRCm39)	I975K	probably damaging	Het
Spice1	T	C	16: 44,206,043 (GRCm39)	F835L	probably benign	Het
Tars2	A	T	3: 95,658,057 (GRCm39)	H222Q	probably benign	Het
Tmtc2	A	T	10: 105,206,477 (GRCm39)	F273I	probably damaging	Het
Ttc39d	C	A	17: 80,523,891 (GRCm39)	D183E	probably benign	Het
Vasp	A	G	7: 18,995,946 (GRCm39)	S128P	probably benign	Het
Vcpip1	A	G	1: 9,818,378 (GRCm39)	S2P	unknown	Het
Vmn2r98	T	C	17: 19,301,184 (GRCm39)	Y729H	probably benign	Het
Wdr18	A	T	10: 79,801,944 (GRCm39)	D243V	probably benign	Het
Xirp2	T	C	2: 67,343,633 (GRCm39)	V1958A	probably benign	Het
Zfp451	A	T	1: 33,816,474 (GRCm39)	M492K	probably damaging	Het
Zfp804b	A	G	5: 6,820,042 (GRCm39)	I1007T	probably benign	Het

Other mutations in Foxl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02116:Foxl2	APN	9	98,838,111 (GRCm39)	missense	probably damaging	1.00
IGL02374:Foxl2	APN	9	98,837,885 (GRCm39)	missense	probably damaging	1.00
R0763:Foxl2	UTSW	9	98,838,086 (GRCm39)	missense	probably damaging	1.00
R0840:Foxl2	UTSW	9	98,837,984 (GRCm39)	nonsense	probably null
R2102:Foxl2	UTSW	9	98,838,282 (GRCm39)	missense	probably damaging	1.00
R2140:Foxl2	UTSW	9	98,838,540 (GRCm39)	missense	unknown
R3429:Foxl2	UTSW	9	98,838,035 (GRCm39)	missense	probably damaging	1.00
R3765:Foxl2	UTSW	9	98,838,039 (GRCm39)	missense	probably damaging	1.00
R5186:Foxl2	UTSW	9	98,838,108 (GRCm39)	missense	probably damaging	1.00
R5655:Foxl2	UTSW	9	98,838,048 (GRCm39)	missense	probably damaging	1.00
R6803:Foxl2	UTSW	9	98,837,985 (GRCm39)	missense	probably damaging	1.00
Z1191:Foxl2	UTSW	9	98,838,122 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCCCATACGAATCAGAACGG -3'
(R):5'- TGTACTGGTAGATGCCGGAC -3'

Sequencing Primer
(F):5'- AGAGGCTGACTTCCACTCC -3'
(R):5'- ATGCCGGACAGAGTGAGCC -3'

Posted On

2019-05-13