Mutagenetix > Incidental Mutation

Incidental Mutation 'R9232:Foxa3'

700298

Institutional Source

Beutler Lab

Gene Symbol

Foxa3

Ensembl Gene

ENSMUSG00000040891

Gene Name

forkhead box A3

Synonyms

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

MMRRC Submission

068986-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9232 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

18747209-18757463 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 18748790 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 112 (R112L)

Ref Sequence

ENSEMBL: ENSMUSP00000043173 (fasta)

Gene Model

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

AlphaFold

P35584

Predicted Effect

probably damaging
Transcript: ENSMUST00000036018
AA Change: R112L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000043173
Gene: ENSMUSG00000040891
AA Change: R112L

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

98% (53/54)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd3	A	T	18: 10,652,198 (GRCm39)	S278T	probably benign	Het
Adgrf1	T	C	17: 43,621,295 (GRCm39)	Y511H	probably benign	Het
Atp5pd	A	G	11: 115,309,221 (GRCm39)	F38S	probably benign	Het
Cdc6	T	G	11: 98,801,201 (GRCm39)	S151A	probably benign	Het
Ceacam12	T	A	7: 17,803,341 (GRCm39)	M249K	probably benign	Het
Cenpt	T	C	8: 106,571,793 (GRCm39)	Q446R	probably damaging	Het
Cnnm1	T	A	19: 43,480,325 (GRCm39)	S883T	probably benign	Het
Cntn6	T	C	6: 104,815,781 (GRCm39)	W721R	probably damaging	Het
Defb43	A	G	14: 63,255,281 (GRCm39)	K38R	probably damaging	Het
Eif2a	T	C	3: 58,463,022 (GRCm39)	S522P	probably benign	Het
Erap1	T	G	13: 74,811,637 (GRCm39)	S332R	probably benign	Het
Foxf1	T	A	8: 121,811,715 (GRCm39)	M193K	possibly damaging	Het
Gbp11	T	C	5: 105,476,290 (GRCm39)	Y273C	possibly damaging	Het
Gli2	T	A	1: 118,764,021 (GRCm39)	T1377S	probably benign	Het
Gm10271	T	A	10: 116,808,479 (GRCm39)	L12F	probably damaging	Het
Grm5	G	A	7: 87,723,591 (GRCm39)	G627D	probably damaging	Het
Gtf3c4	A	G	2: 28,724,848 (GRCm39)	S295P	probably damaging	Het
Hps4	G	A	5: 112,525,905 (GRCm39)	S642N	possibly damaging	Het
Igsf10	G	A	3: 59,243,843 (GRCm39)	R164W	probably damaging	Het
Iqch	T	A	9: 63,329,200 (GRCm39)	M1045L	probably benign	Het
Kcnt2	T	C	1: 140,411,931 (GRCm39)	S455P	possibly damaging	Het
Kif26b	G	A	1: 178,742,511 (GRCm39)	G869E	probably damaging	Het
Kit	A	G	5: 75,799,792 (GRCm39)	N508S	probably benign	Het
Lgals8	C	T	13: 12,469,777 (GRCm39)	V61M	probably damaging	Het
Lztr1	T	C	16: 17,339,343 (GRCm39)	V392A	possibly damaging	Het
Mad1l1	T	A	5: 140,091,296 (GRCm39)	M524L	probably benign	Het
Mob3b	T	C	4: 34,986,101 (GRCm39)	N146D	probably benign	Het
Muc16	T	C	9: 18,567,336 (GRCm39)	T1728A	unknown	Het
Nlgn2	T	C	11: 69,718,855 (GRCm39)	H278R	probably damaging	Het
Nlgn3	T	C	X: 100,352,390 (GRCm39)	V179A	probably damaging	Het
Plce1	A	G	19: 38,705,423 (GRCm39)	M943V	probably benign	Het
Pramel25	T	G	4: 143,520,263 (GRCm39)	L169R	probably benign	Het
Proser2	A	G	2: 6,106,015 (GRCm39)	L183P	probably benign	Het
Prss36	T	C	7: 127,543,988 (GRCm39)	I128V	probably benign	Het
Rabggta	C	T	14: 55,956,745 (GRCm39)	V320I	probably benign	Het
Sepsecs	A	G	5: 52,823,344 (GRCm39)	V125A	probably benign	Het
Sik3	C	T	9: 46,123,216 (GRCm39)	P1005L	probably benign	Het
Slc22a20	A	T	19: 6,023,009 (GRCm39)	I378N	possibly damaging	Het
Son	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	16: 91,453,579 (GRCm39)		probably benign	Het
Tap1	T	C	17: 34,412,277 (GRCm39)	V494A	probably benign	Het
Tg	A	G	15: 66,570,310 (GRCm39)	D1394G	probably benign	Het
Tgfbr3	T	C	5: 107,290,361 (GRCm39)	T315A	possibly damaging	Het
Tmc2	A	G	2: 130,085,049 (GRCm39)	T559A	probably damaging	Het
Tph1	A	G	7: 46,311,529 (GRCm39)	I71T	probably benign	Het
Trib3	A	T	2: 152,184,962 (GRCm39)	C96S	probably damaging	Het
Trim28	G	A	7: 12,763,490 (GRCm39)	A544T	probably benign	Het
Trim56	A	G	5: 137,141,632 (GRCm39)	V628A	probably damaging	Het
Ttc6	A	G	12: 57,776,210 (GRCm39)	Y1718C	probably damaging	Het
Tuft1	T	C	3: 94,529,445 (GRCm39)	Q244R	probably benign	Het
Unc13b	A	G	4: 43,240,321 (GRCm39)	T793A	probably benign	Het
Vmn1r39	A	G	6: 66,781,580 (GRCm39)	I246T	possibly damaging	Het
Xpo1	T	C	11: 23,232,646 (GRCm39)	S389P	probably benign	Het
Zdbf2	T	C	1: 63,347,168 (GRCm39)	F1849S	possibly damaging	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
R2159:Foxa3	UTSW	7	18,748,109 (GRCm39)	missense	probably benign	0.40
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
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'- TTGAAGGACAGCGAATGCC -3'
(R):5'- TGACCTTGAACCCACTCAGC -3'

Sequencing Primer
(F):5'- CGAATGCCGGATGGAGTTC -3'
(R):5'- TGAACCCACTCAGCTCTCC -3'

Posted On

2022-02-07