Mutagenetix > Incidental Mutation

Incidental Mutation 'R8993:Foxa2'

684523

Institutional Source

Beutler Lab

Gene Symbol

Foxa2

Ensembl Gene

ENSMUSG00000037025

Gene Name

forkhead box A2

Synonyms

Tcf-3b, HNF3beta, HNF3-beta, Tcf3b, Hnf-3b, Hnf3b

MMRRC Submission

068824-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8993 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

147884797-147888889 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 147886626 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 69 (M69K)

Ref Sequence

ENSEMBL: ENSMUSP00000105590 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047315] [ENSMUST00000109964] [ENSMUST00000172928]

AlphaFold

P35583

Predicted Effect

possibly damaging
Transcript: ENSMUST00000047315
AA Change: M63K

PolyPhen 2 Score 0.737 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000045918
Gene: ENSMUSG00000037025
AA Change: M63K

Domain	Start	End	E-Value	Type
low complexity region	30	41	N/A	INTRINSIC
low complexity region	44	67	N/A	INTRINSIC
low complexity region	74	104	N/A	INTRINSIC
low complexity region	113	125	N/A	INTRINSIC
FH	157	247	4.77e-62	SMART
low complexity region	262	281	N/A	INTRINSIC
low complexity region	326	365	N/A	INTRINSIC
Pfam:HNF_C	374	448	1.1e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000109964
AA Change: M69K

PolyPhen 2 Score 0.276 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000105590
Gene: ENSMUSG00000037025
AA Change: M69K

Domain	Start	End	E-Value	Type
low complexity region	36	47	N/A	INTRINSIC
low complexity region	50	73	N/A	INTRINSIC
low complexity region	80	110	N/A	INTRINSIC
low complexity region	119	131	N/A	INTRINSIC
FH	163	253	4.77e-62	SMART
low complexity region	268	287	N/A	INTRINSIC
low complexity region	332	371	N/A	INTRINSIC
Pfam:HNF_C	380	454	5.5e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000172928

SMART Domains

Protein: ENSMUSP00000134081
Gene: ENSMUSG00000037025

Domain	Start	End	E-Value	Type
FH	13	72	1.94e-12	SMART
low complexity region	87	106	N/A	INTRINSIC
low complexity region	151	190	N/A	INTRINSIC
Pfam:HNF_C	199	273	4.8e-26	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (56/56)

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 genes 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. This gene has been linked to sporadic cases of maturity-onset diabetes of the young. Transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Oct 2008]
PHENOTYPE: Embryos homozygous for targeted null mutations fail to form a distinct node, lack a notochord, and die by embryonic day 10 or 11. Mutants also exhibit defects of somite and neural tube organization, and lack a floor plate and motor neurons. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700069L16Rik	A	T	5: 113,841,842 (GRCm39)	C92*	probably null	Het
A830018L16Rik	G	T	1: 11,615,491 (GRCm39)	E155*	probably null	Het
Acaa1a	A	T	9: 119,178,418 (GRCm39)		probably null	Het
Adcy4	T	C	14: 56,008,835 (GRCm39)	E864G	probably null	Het
Adcy4	T	C	14: 56,016,156 (GRCm39)	D387G	probably damaging	Het
Ank1	C	T	8: 23,588,955 (GRCm39)	H574Y	probably damaging	Het
Arhgef16	C	T	4: 154,371,495 (GRCm39)	E233K	probably damaging	Het
Arhgef26	A	T	3: 62,355,525 (GRCm39)	Y699F	probably benign	Het
BB014433	C	T	8: 15,092,101 (GRCm39)	V251M	probably damaging	Het
Bcan	G	A	3: 87,901,529 (GRCm39)	A391V	probably benign	Het
Bod1l	A	C	5: 41,974,210 (GRCm39)	V2368G	probably benign	Het
Braf	A	G	6: 39,639,085 (GRCm39)	V222A	probably damaging	Het
Cd33	G	T	7: 43,182,871 (GRCm39)		probably benign	Het
Cdkl2	T	A	5: 92,170,010 (GRCm39)	K324N	probably damaging	Het
Celf6	A	T	9: 59,510,154 (GRCm39)	T199S	probably damaging	Het
Cmtm4	A	C	8: 105,081,798 (GRCm39)	D196E	probably benign	Het
Cntn1	G	A	15: 92,132,347 (GRCm39)	V148M	probably damaging	Het
Col1a2	C	A	6: 4,535,451 (GRCm39)	P921H	unknown	Het
Crmp1	T	C	5: 37,399,490 (GRCm39)	M1T	probably null	Het
Dnah7a	A	T	1: 53,543,262 (GRCm39)	Y2303N	probably damaging	Het
Dock10	G	T	1: 80,551,888 (GRCm39)	T650K	probably benign	Het
Eif1ad15	A	G	12: 88,288,170 (GRCm39)	F28L	probably benign	Het
Fam24a	A	G	7: 130,938,269 (GRCm39)	D53G	probably benign	Het
Gatad2a	T	A	8: 70,362,585 (GRCm39)	H601L	probably damaging	Het
Gimap4	A	C	6: 48,667,539 (GRCm39)	D98A	probably damaging	Het
Gm14295	G	T	2: 176,501,623 (GRCm39)	R371L	possibly damaging	Het
Golim4	G	T	3: 75,785,435 (GRCm39)	A652E	probably benign	Het
Grid1	A	G	14: 34,748,899 (GRCm39)	I240V	probably benign	Het
Iqsec3	T	A	6: 121,390,272 (GRCm39)	T400S	unknown	Het
Itk	G	A	11: 46,225,735 (GRCm39)	R539C	probably damaging	Het
Kif27	T	A	13: 58,473,912 (GRCm39)	D695V	possibly damaging	Het
Krt79	T	C	15: 101,839,441 (GRCm39)		probably benign	Het
Lama2	C	A	10: 27,298,710 (GRCm39)	V129L	possibly damaging	Het
Lonrf1	C	A	8: 36,696,392 (GRCm39)	E552D	possibly damaging	Het
Mpp3	A	G	11: 101,891,491 (GRCm39)	I549T	probably benign	Het
Nat1	T	C	8: 67,944,394 (GRCm39)	Y260H	probably benign	Het
Nipal2	T	A	15: 34,648,983 (GRCm39)	K69*	probably null	Het
Nlrx1	G	T	9: 44,168,238 (GRCm39)		probably benign	Het
Pde1b	C	A	15: 103,429,852 (GRCm39)	A115E	probably benign	Het
Pde4dip	A	G	3: 97,673,810 (GRCm39)	Y369H	probably damaging	Het
Pnpla7	A	G	2: 24,943,431 (GRCm39)	Y1286C	possibly damaging	Het
Poglut2	G	T	1: 44,151,924 (GRCm39)	L322I	possibly damaging	Het
Pramel5	T	C	4: 143,999,529 (GRCm39)	E186G	possibly damaging	Het
Qdpr	C	T	5: 45,607,386 (GRCm39)	G20D	probably damaging	Het
Rmnd1	T	G	10: 4,357,918 (GRCm39)	I364L	probably benign	Het
Slc5a4a	A	T	10: 76,022,369 (GRCm39)	E568V	probably benign	Het
Slc6a18	T	A	13: 73,816,390 (GRCm39)	I330F	probably benign	Het
Spesp1	T	C	9: 62,180,552 (GRCm39)	T119A	possibly damaging	Het
Sypl1	G	A	12: 33,025,662 (GRCm39)	S242N	probably benign	Het
Tbx18	G	A	9: 87,612,770 (GRCm39)	T43M	probably benign	Het
Tm7sf2	T	A	19: 6,113,956 (GRCm39)	D263V	probably damaging	Het
Trbv21	T	C	6: 41,179,924 (GRCm39)	I80T	probably damaging	Het
Ttc3	T	A	16: 94,228,667 (GRCm39)	L747Q	possibly damaging	Het
Ttll11	T	C	2: 35,707,813 (GRCm39)	D498G	possibly damaging	Het
Ttn	T	C	2: 76,583,714 (GRCm39)	Y22431C	probably null	Het
Ubtfl1	T	A	9: 18,321,637 (GRCm39)	S388R		Het
Vmn2r118	A	T	17: 55,917,835 (GRCm39)	L226I	possibly damaging	Het
Wdr46	A	G	17: 34,168,156 (GRCm39)	H576R	probably benign	Het
Zfp426	A	G	9: 20,386,296 (GRCm39)	F62L	probably damaging	Het

Other mutations in Foxa2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00922:Foxa2	APN	2	147,886,738 (GRCm39)	missense	possibly damaging	0.93
IGL02560:Foxa2	APN	2	147,885,951 (GRCm39)	missense	probably benign	0.40
IGL02797:Foxa2	APN	2	147,886,045 (GRCm39)	missense	possibly damaging	0.95
R6768_Foxa2_027	UTSW	2	147,885,747 (GRCm39)	missense	probably damaging	0.97
R0116:Foxa2	UTSW	2	147,885,481 (GRCm39)	missense	probably damaging	0.99
R2252:Foxa2	UTSW	2	147,886,086 (GRCm39)	missense	probably damaging	0.98
R4334:Foxa2	UTSW	2	147,886,623 (GRCm39)	missense	possibly damaging	0.85
R5293:Foxa2	UTSW	2	147,885,922 (GRCm39)	missense	probably benign	0.09
R5339:Foxa2	UTSW	2	147,886,354 (GRCm39)	missense	probably damaging	1.00
R6768:Foxa2	UTSW	2	147,885,747 (GRCm39)	missense	probably damaging	0.97
R8036:Foxa2	UTSW	2	147,885,909 (GRCm39)	missense	probably benign
R8137:Foxa2	UTSW	2	147,885,768 (GRCm39)	missense	probably benign
R9091:Foxa2	UTSW	2	147,886,426 (GRCm39)	missense	probably benign	0.05
R9270:Foxa2	UTSW	2	147,886,426 (GRCm39)	missense	probably benign	0.05
R9648:Foxa2	UTSW	2	147,887,799 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCATCGAGTTCATGTTGGCG -3'
(R):5'- CAGAGGCTTGCACGAATTG -3'

Sequencing Primer
(F):5'- ATCGAGTTCATGTTGGCGTAGGG -3'
(R):5'- GACTGGGTCCAACTGGTG -3'

Posted On

2021-10-11