Mutagenetix > Incidental Mutation

Incidental Mutation 'R7864:Foxa1'

607731

Institutional Source

Beutler Lab

Gene Symbol

Foxa1

Ensembl Gene

ENSMUSG00000035451

Gene Name

forkhead box A1

Synonyms

Tcf3a, Hnf3a, Tcf-3a, Hnf-3a

MMRRC Submission

045917-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7864 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

57587414-57593702 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 57589533 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 229 (V229D)

Ref Sequence

ENSEMBL: ENSMUSP00000041118 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044380]

AlphaFold

P35582

Predicted Effect

probably damaging
Transcript: ENSMUST00000044380
AA Change: V229D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000041118
Gene: ENSMUSG00000035451
AA Change: V229D

Domain	Start	End	E-Value	Type
low complexity region	32	60	N/A	INTRINSIC
low complexity region	96	107	N/A	INTRINSIC
FH	168	258	3.88e-62	SMART
low complexity region	273	286	N/A	INTRINSIC
low complexity region	318	328	N/A	INTRINSIC
low complexity region	347	365	N/A	INTRINSIC
Pfam:HNF_C	393	457	1.3e-30	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (48/48)

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. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit abnormal feeding, hypoglycemia, impaired glucagon secretion, hypotryglyceridemia, wasting, and lethality between postnatal days 2 and 14. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot2	C	T	12: 84,034,796 (GRCm39)	R41W	probably benign	Het
Adam32	T	A	8: 25,412,292 (GRCm39)	H88L	probably benign	Het
Ank1	A	G	8: 23,577,976 (GRCm39)	T238A	probably damaging	Het
Arid1b	T	C	17: 5,392,530 (GRCm39)	L1967P	probably damaging	Het
Bbx	G	T	16: 50,082,797 (GRCm39)	H216Q	probably damaging	Het
C030005K15Rik	G	A	10: 97,561,614 (GRCm39)	T39M	probably damaging	Het
C1s2	A	G	6: 124,602,246 (GRCm39)	V655A	probably benign	Het
Carmil2	A	G	8: 106,414,906 (GRCm39)	Y184C	probably damaging	Het
Ces1f	G	A	8: 94,000,769 (GRCm39)	A125V	possibly damaging	Het
Chaf1a	C	T	17: 56,354,339 (GRCm39)	T203I	unknown	Het
Cntn5	A	G	9: 9,984,182 (GRCm39)	S144P	probably damaging	Het
Cpa5	A	T	6: 30,631,394 (GRCm39)	Y436F	probably damaging	Het
Dbf4	A	T	5: 8,460,010 (GRCm39)	H150Q	possibly damaging	Het
Dlg5	G	A	14: 24,295,280 (GRCm39)	P80L	probably damaging	Het
Dock8	A	T	19: 25,140,864 (GRCm39)	D1360V	possibly damaging	Het
Ecm1	A	T	3: 95,641,689 (GRCm39)	I515N	probably benign	Het
Fancc	A	T	13: 63,548,073 (GRCm39)	C75*	probably null	Het
Gga1	T	C	15: 78,772,444 (GRCm39)	M248T	probably damaging	Het
Gm1527	A	G	3: 28,980,619 (GRCm39)	Q573R	probably benign	Het
Hivep1	A	C	13: 42,312,290 (GRCm39)	H1510P	probably benign	Het
Htr1f	A	C	16: 64,747,157 (GRCm39)	I45S	probably damaging	Het
Itsn1	T	C	16: 91,598,454 (GRCm39)	V129A	possibly damaging	Het
Klrg2	G	T	6: 38,605,024 (GRCm39)	Q347K	possibly damaging	Het
Lama2	G	A	10: 26,932,611 (GRCm39)	T1996I	probably benign	Het
Man1a	C	A	10: 53,906,843 (GRCm39)	L219F	possibly damaging	Het
Mcub	A	G	3: 129,712,272 (GRCm39)	I201T	probably damaging	Het
Or10q1	A	G	19: 13,726,710 (GRCm39)	D80G	probably benign	Het
Otogl	A	G	10: 107,705,428 (GRCm39)	L633P	probably damaging	Het
Pate9	A	T	9: 36,445,747 (GRCm39)	F68Y	probably benign	Het
Pik3ca	T	A	3: 32,497,762 (GRCm39)	L429*	probably null	Het
Pkhd1l1	T	C	15: 44,389,449 (GRCm39)		probably null	Het
Pld4	C	A	12: 112,731,557 (GRCm39)	Q237K	probably damaging	Het
Plekhm2	T	C	4: 141,355,357 (GRCm39)	E897G	probably damaging	Het
Pomt2	A	G	12: 87,169,656 (GRCm39)	F475L	probably benign	Het
Popdc3	G	A	10: 45,191,278 (GRCm39)	A130T	probably benign	Het
Prss54	T	C	8: 96,286,297 (GRCm39)	K259E	probably benign	Het
Psg23	T	G	7: 18,344,435 (GRCm39)	N340T	possibly damaging	Het
Rab1a	G	T	11: 20,165,673 (GRCm39)	G23*	probably null	Het
Rgs9	A	T	11: 109,166,446 (GRCm39)	F108Y	probably damaging	Het
Scn9a	T	A	2: 66,314,904 (GRCm39)	T1605S	possibly damaging	Het
Sh2d4b	G	A	14: 40,562,208 (GRCm39)	T319I	probably damaging	Het
Slc28a3	A	T	13: 58,726,217 (GRCm39)		probably null	Het
Syngap1	A	T	17: 27,189,502 (GRCm39)	Q1286L		Het
Tmem132d	G	A	5: 127,860,980 (GRCm39)	T1047I	probably damaging	Het
Togaram2	G	A	17: 72,007,935 (GRCm39)	R420H	probably damaging	Het
Uimc1	G	A	13: 55,241,080 (GRCm39)	R3*	probably null	Het
Vmn2r7	C	T	3: 64,598,947 (GRCm39)	V537I	probably benign	Het
Wwp1	T	A	4: 19,635,328 (GRCm39)	K584N	probably damaging	Het
Zc3h12d	A	T	10: 7,715,723 (GRCm39)	Q42L	possibly damaging	Het
Zfp729a	A	T	13: 67,769,569 (GRCm39)	V220E	probably benign	Het
Zfp91	A	G	19: 12,748,403 (GRCm39)	V391A	probably damaging	Het

Other mutations in Foxa1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00696:Foxa1	APN	12	57,589,443 (GRCm39)	missense	probably damaging	1.00
IGL02371:Foxa1	APN	12	57,589,486 (GRCm39)	missense	probably damaging	0.98
IGL03150:Foxa1	APN	12	57,589,082 (GRCm39)	missense	probably benign	0.41
PIT4377001:Foxa1	UTSW	12	57,589,567 (GRCm39)	missense	probably damaging	1.00
R1347:Foxa1	UTSW	12	57,589,070 (GRCm39)	missense	probably damaging	0.99
R1347:Foxa1	UTSW	12	57,589,070 (GRCm39)	missense	probably damaging	0.99
R1494:Foxa1	UTSW	12	57,588,984 (GRCm39)	missense	probably damaging	0.99
R1598:Foxa1	UTSW	12	57,589,473 (GRCm39)	missense	possibly damaging	0.69
R1809:Foxa1	UTSW	12	57,589,527 (GRCm39)	missense	probably damaging	1.00
R5554:Foxa1	UTSW	12	57,589,077 (GRCm39)	missense	probably benign	0.00
R5667:Foxa1	UTSW	12	57,589,081 (GRCm39)	missense	probably benign	0.01
R5782:Foxa1	UTSW	12	57,589,302 (GRCm39)	missense	probably benign	0.00
R6174:Foxa1	UTSW	12	57,589,686 (GRCm39)	missense	probably damaging	1.00
R6750:Foxa1	UTSW	12	57,589,396 (GRCm39)	missense	probably benign	0.32
R6781:Foxa1	UTSW	12	57,590,043 (GRCm39)	missense	possibly damaging	0.74
R6995:Foxa1	UTSW	12	57,589,264 (GRCm39)	missense	probably benign	0.00
R7209:Foxa1	UTSW	12	57,590,077 (GRCm39)	missense	probably benign	0.03
R8257:Foxa1	UTSW	12	57,589,932 (GRCm39)	missense	probably benign	0.22
R8464:Foxa1	UTSW	12	57,589,246 (GRCm39)	missense	probably benign	0.00
X0020:Foxa1	UTSW	12	57,590,098 (GRCm39)	missense	possibly damaging	0.73
Z1177:Foxa1	UTSW	12	57,589,203 (GRCm39)	missense	probably benign	0.09

Predicted Primers

PCR Primer
(F):5'- GAGACTTCAACTCCGAAGCG -3'
(R):5'- GACGCCAAGACATTCAAGCG -3'

Sequencing Primer
(F):5'- CGCTGTGGTCCAGAGTCTG -3'
(R):5'- GCCAAGCCGCCTTACTC -3'

Posted On

2019-12-20