Mutagenetix > Incidental Mutation

Incidental Mutation 'R2159:Foxa3'

235046

Institutional Source

Beutler Lab

Gene Symbol

Foxa3

Ensembl Gene

ENSMUSG00000040891

Gene Name

forkhead box A3

Synonyms

Tcf-3g, Hnf3g, Tcf3g, Hnf-3g

MMRRC Submission

040162-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2159 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

18747209-18757463 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 18748109 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 339 (V339A)

Ref Sequence

ENSEMBL: ENSMUSP00000043173 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036018]

AlphaFold

P35584

Predicted Effect

probably benign
Transcript: ENSMUST00000036018
AA Change: V339A

PolyPhen 2 Score 0.397 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000043173
Gene: ENSMUSG00000040891
AA Change: V339A

Domain	Start	End	E-Value	Type
low complexity region	59	93	N/A	INTRINSIC
FH	117	207	5.48e-62	SMART
low complexity region	226	267	N/A	INTRINSIC
Pfam:HNF_C	304	332	1.9e-7	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the forkhead class of DNA-binding proteins. These hepatocyte nuclear factors are transcriptional activators for liver-specific transcripts such as albumin and transthyretin, and they also interact with chromatin. Similar family members in mice have roles in the regulation of metabolism and in the differentiation of the pancreas and liver. The crystal structure of a similar protein in rat has been resolved. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit reduced expression of several liver-specific and liver-enriched genes, but appear to be phenotypically normal. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam21	G	A	12: 81,607,241 (GRCm39)	P174S	probably benign	Het
Aida	C	T	1: 183,103,234 (GRCm39)	P185S	probably benign	Het
Alg11	T	G	8: 22,555,861 (GRCm39)	I374R	probably benign	Het
Ano9	T	C	7: 140,688,030 (GRCm39)	I229V	probably benign	Het
Apob	A	T	12: 8,060,081 (GRCm39)	L2821F	probably benign	Het
Atp10b	C	T	11: 43,042,680 (GRCm39)	T80I	possibly damaging	Het
BC024139	T	C	15: 76,005,688 (GRCm39)	H478R	probably damaging	Het
Btbd1	A	T	7: 81,450,804 (GRCm39)	D325E	possibly damaging	Het
Camk2a	G	A	18: 61,090,257 (GRCm39)	C199Y	probably damaging	Het
Casp3	A	G	8: 47,087,323 (GRCm39)	D90G	probably damaging	Het
Ccnt2	A	G	1: 127,702,891 (GRCm39)	H71R	probably benign	Het
Cdk2ap1	G	A	5: 124,486,667 (GRCm39)	R65*	probably null	Het
Cebpb	G	T	2: 167,531,173 (GRCm39)	A78S	probably benign	Het
Col5a3	A	G	9: 20,682,606 (GRCm39)	F1613L	unknown	Het
Cpd	T	C	11: 76,688,467 (GRCm39)	D935G	probably damaging	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,604,632 (GRCm39)		probably null	Het
Cwc27	A	G	13: 104,940,837 (GRCm39)	I174T	probably damaging	Het
Cyp21a1	C	A	17: 35,021,378 (GRCm39)	R331L	probably benign	Het
Dnah5	A	G	15: 28,252,691 (GRCm39)	T795A	probably benign	Het
Eif2ak2	A	G	17: 79,181,447 (GRCm39)	V100A	possibly damaging	Het
Gp2	T	C	7: 119,051,507 (GRCm39)	D236G	probably benign	Het
Gprc6a	CAAA	CA	10: 51,491,776 (GRCm39)		probably null	Het
Gzmd	T	A	14: 56,368,153 (GRCm39)	H102L	probably damaging	Het
Klk1b1	A	T	7: 43,619,857 (GRCm39)	I139F	probably damaging	Het
Lcmt2	G	A	2: 120,969,766 (GRCm39)	P439L	probably damaging	Het
Loxl4	C	T	19: 42,588,446 (GRCm39)	A570T	probably damaging	Het
Mga	T	A	2: 119,750,124 (GRCm39)	H674Q	probably damaging	Het
Mybpc3	A	T	2: 90,955,715 (GRCm39)	K583M	probably damaging	Het
Ncoa6	G	T	2: 155,249,633 (GRCm39)	P1224T	probably damaging	Het
Nostrin	A	G	2: 69,011,266 (GRCm39)		probably null	Het
Or13e8	T	C	4: 43,697,110 (GRCm39)	H21R	probably benign	Het
Or4c3	A	T	2: 89,851,882 (GRCm39)	V176E	probably damaging	Het
Oxsr1	A	C	9: 119,133,880 (GRCm39)	D58E	possibly damaging	Het
Parm1	A	G	5: 91,760,923 (GRCm39)	Y265C	probably damaging	Het
Phf10	C	T	17: 15,172,926 (GRCm39)	E304K	probably damaging	Het
Prmt5	T	C	14: 54,752,795 (GRCm39)	T139A	probably benign	Het
Ptgir	A	G	7: 16,640,794 (GRCm39)	M29V	possibly damaging	Het
Ptp4a3	A	G	15: 73,623,865 (GRCm39)	T32A	probably benign	Het
Pwwp2b	A	T	7: 138,834,844 (GRCm39)	D95V	possibly damaging	Het
Rad51ap2	T	C	12: 11,507,752 (GRCm39)	L558S	possibly damaging	Het
Rapgef4	A	G	2: 72,005,225 (GRCm39)	D80G	probably damaging	Het
Sec24a	T	G	11: 51,603,177 (GRCm39)	H757P	probably damaging	Het
Sema4d	T	C	13: 51,874,571 (GRCm39)	N129D	probably damaging	Het
Serpini1	A	G	3: 75,531,251 (GRCm39)	T323A	probably benign	Het
Setd1a	G	A	7: 127,384,661 (GRCm39)	R504H	possibly damaging	Het
Sftpb	T	C	6: 72,286,770 (GRCm39)	C226R	probably damaging	Het
Sp8	T	C	12: 118,812,441 (GRCm39)	S99P	possibly damaging	Het
Srgap3	A	G	6: 112,748,339 (GRCm39)	F438L	probably damaging	Het
Stim2	T	C	5: 54,267,156 (GRCm39)	Y365H	probably damaging	Het
Stk36	A	G	1: 74,673,896 (GRCm39)	Q1263R	probably benign	Het
Tectb	C	G	19: 55,169,431 (GRCm39)		probably benign	Het
Troap	G	T	15: 98,975,467 (GRCm39)	A184S	probably damaging	Het
Ttn	G	A	2: 76,729,671 (GRCm39)		probably benign	Het
Vmn2r108	C	A	17: 20,689,363 (GRCm39)	A531S	probably benign	Het
Vmn2r12	T	A	5: 109,239,340 (GRCm39)	I408F	probably benign	Het
Vmn2r8	T	A	5: 108,950,169 (GRCm39)	E226V	probably benign	Het
Vmo1	A	G	11: 70,404,608 (GRCm39)	F131S	probably benign	Het
Vwf	T	C	6: 125,603,304 (GRCm39)	F885L	probably damaging	Het
Wdpcp	A	T	11: 21,807,476 (GRCm39)	M618L	probably benign	Het
Wdr90	T	C	17: 26,070,715 (GRCm39)	E1072G	probably benign	Het

Other mutations in Foxa3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01823:Foxa3	APN	7	18,748,443 (GRCm39)	missense	probably benign
R0378:Foxa3	UTSW	7	18,757,294 (GRCm39)	missense	probably damaging	1.00
R1833:Foxa3	UTSW	7	18,748,499 (GRCm39)	missense	probably damaging	1.00
R2877:Foxa3	UTSW	7	18,748,805 (GRCm39)	missense	probably benign	0.38
R4666:Foxa3	UTSW	7	18,748,297 (GRCm39)	nonsense	probably null
R5533:Foxa3	UTSW	7	18,748,940 (GRCm39)	nonsense	probably null
R5669:Foxa3	UTSW	7	18,748,176 (GRCm39)	missense	probably benign	0.41
R7339:Foxa3	UTSW	7	18,748,794 (GRCm39)	missense	probably damaging	1.00
R8128:Foxa3	UTSW	7	18,757,341 (GRCm39)	start codon destroyed	probably null	0.77
R8329:Foxa3	UTSW	7	18,748,109 (GRCm39)	missense	probably benign	0.40
R9232:Foxa3	UTSW	7	18,748,790 (GRCm39)	missense	probably damaging	1.00
R9305:Foxa3	UTSW	7	18,748,961 (GRCm39)	missense	possibly damaging	0.82
R9627:Foxa3	UTSW	7	18,748,458 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AACGCATCTGCCTTCCTAATAC -3'
(R):5'- CACCTTATTTCAGCGGCCTG -3'

Sequencing Primer
(F):5'- GTCCATGGCAGTTACCACAGTAG -3'
(R):5'- TATTTCAGCGGCCTGGAGCTC -3'

Posted On

2014-10-01