Mutagenetix > Incidental Mutation

Incidental Mutation 'R2877:Foxa3'

260604

Institutional Source

Beutler Lab

Gene Symbol

Foxa3

Ensembl Gene

ENSMUSG00000040891

Gene Name

forkhead box A3

Synonyms

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

MMRRC Submission

040465-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2877 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

18747209-18757463 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 18748805 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 107 (M107K)

Ref Sequence

ENSEMBL: ENSMUSP00000043173 (fasta)

Gene Model

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

AlphaFold

P35584

Predicted Effect

probably benign
Transcript: ENSMUST00000036018
AA Change: M107K

PolyPhen 2 Score 0.375 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000043173
Gene: ENSMUSG00000040891
AA Change: M107K

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

Meta Mutation Damage Score

0.0694

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

96% (66/69)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	C	5: 109,886,811 (GRCm39)		probably benign	Het
Abca13	C	T	11: 9,241,889 (GRCm39)	L1251F	possibly damaging	Het
Accsl	A	T	2: 93,689,755 (GRCm39)	M384K	probably damaging	Het
Adss1	A	C	12: 112,600,623 (GRCm39)	K197N	probably damaging	Het
Alg11	A	G	8: 22,555,374 (GRCm39)	N170D	possibly damaging	Het
Ambn	T	C	5: 88,608,559 (GRCm39)		probably benign	Het
Anapc7	T	C	5: 122,566,219 (GRCm39)	Y43H	probably benign	Het
Anxa10	T	A	8: 62,513,373 (GRCm39)	I255F	probably damaging	Het
Atg2b	A	T	12: 105,630,268 (GRCm39)	Y374*	probably null	Het
Axl	T	A	7: 25,465,949 (GRCm39)	M563L	probably damaging	Het
Carmil2	A	G	8: 106,422,055 (GRCm39)	E1108G	probably damaging	Het
Casp1	T	C	9: 5,303,110 (GRCm39)	M188T	probably damaging	Het
Chd3	A	T	11: 69,251,998 (GRCm39)	C87*	probably null	Het
Col6a3	G	A	1: 90,703,321 (GRCm39)	T2475I	unknown	Het
Creb3l4	A	T	3: 90,149,615 (GRCm39)	S83R	probably damaging	Het
Cyp2a4	G	A	7: 26,011,612 (GRCm39)	E278K	possibly damaging	Het
Dync1li2	A	C	8: 105,156,047 (GRCm39)	Y265D	probably damaging	Het
Eif3f	G	A	7: 108,534,019 (GRCm39)		probably null	Het
Eipr1	C	T	12: 28,810,091 (GRCm39)	T22I	possibly damaging	Het
Fbxo48	A	G	11: 16,903,382 (GRCm39)	K3E	possibly damaging	Het
Fbxw13	A	G	9: 109,010,534 (GRCm39)	F368S	probably damaging	Het
Fbxw19	A	T	9: 109,315,038 (GRCm39)	W175R	probably damaging	Het
Fibcd1	G	A	2: 31,728,678 (GRCm39)	P60S	probably benign	Het
Foxj2	G	A	6: 122,819,791 (GRCm39)	D560N	probably damaging	Het
Gfm2	A	G	13: 97,289,757 (GRCm39)	R181G	possibly damaging	Het
Gpr25	C	T	1: 136,188,553 (GRCm39)	G20D	possibly damaging	Het
Grin1	A	G	2: 25,187,641 (GRCm39)	V594A	probably damaging	Het
Itpripl1	A	G	2: 126,983,534 (GRCm39)	V196A	probably benign	Het
Kcns1	A	G	2: 164,006,682 (GRCm39)	I427T	probably damaging	Het
Kiz	T	C	2: 146,731,476 (GRCm39)	V322A	possibly damaging	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Muc19	T	A	15: 91,777,200 (GRCm39)		noncoding transcript	Het
Naa16	A	G	14: 79,580,738 (GRCm39)	M592T	probably benign	Het
Naa80	A	T	9: 107,460,367 (GRCm39)	E87D	possibly damaging	Het
Ncapd3	T	A	9: 26,955,783 (GRCm39)		probably null	Het
Nebl	C	A	2: 17,439,740 (GRCm39)	D178Y	probably damaging	Het
Nedd1	T	A	10: 92,549,988 (GRCm39)	N99I	possibly damaging	Het
Nuak1	T	C	10: 84,211,209 (GRCm39)	D293G	possibly damaging	Het
Or5b123	A	T	19: 13,596,996 (GRCm39)	I157F	probably damaging	Het
Or5m9b	T	C	2: 85,905,675 (GRCm39)	M197T	possibly damaging	Het
Palb2	A	G	7: 121,713,652 (GRCm39)	V877A	probably damaging	Het
Rassf6	C	T	5: 90,754,664 (GRCm39)	V205I	probably damaging	Het
Rbak	A	G	5: 143,159,860 (GRCm39)	Y398H	probably damaging	Het
Rcbtb1	A	G	14: 59,448,041 (GRCm39)		probably benign	Het
Robo4	CGG	CG	9: 37,322,786 (GRCm39)		probably null	Het
Smpdl3a	C	A	10: 57,685,181 (GRCm39)	T317K	probably damaging	Het
Speer4e1	C	T	5: 14,987,130 (GRCm39)	V92M	probably damaging	Het
Syne2	A	G	12: 76,047,605 (GRCm39)	I4009V	probably benign	Het
Tarbp1	G	A	8: 127,154,571 (GRCm39)	L1474F	probably damaging	Het
Tchh	A	G	3: 93,351,535 (GRCm39)	E325G	unknown	Het
Trpc4	T	C	3: 54,198,761 (GRCm39)	S562P	probably damaging	Het
Ttn	T	C	2: 76,567,409 (GRCm39)	D27828G	probably damaging	Het
Ulk4	T	C	9: 121,089,105 (GRCm39)	D258G	probably benign	Het
Vmn1r215	A	G	13: 23,260,731 (GRCm39)	H257R	probably benign	Het
Vmn2r56	A	C	7: 12,444,954 (GRCm39)	M433R	probably benign	Het
Vmn2r76	C	A	7: 85,875,201 (GRCm39)	C592F	probably benign	Het
Zcchc8	C	T	5: 123,838,766 (GRCm39)	V591I	probably benign	Het
Znhit6	G	C	3: 145,282,409 (GRCm39)	G96A	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
R2159:Foxa3	UTSW	7	18,748,109 (GRCm39)	missense	probably benign	0.40
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'- ATTGAAGGACAGCGAATGCC -3'
(R):5'- ATGACCTTGAACCCACTCAG -3'

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

Posted On

2015-01-23