Mutagenetix > Incidental Mutation

Incidental Mutation 'R5554:Foxa1'

435306

Institutional Source

Beutler Lab

Gene Symbol

Foxa1

Ensembl Gene

ENSMUSG00000035451

Gene Name

forkhead box A1

Synonyms

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

MMRRC Submission

043111-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5554 (G1)

Quality Score

203

Status

Validated

Chromosome

Chromosomal Location

57587414-57593702 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 57589077 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 381 (Q381L)

Ref Sequence

ENSEMBL: ENSMUSP00000041118 (fasta)

Gene Model

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

AlphaFold

P35582

Predicted Effect

probably benign
Transcript: ENSMUST00000044380
AA Change: Q381L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000041118
Gene: ENSMUSG00000035451
AA Change: Q381L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218398

Meta Mutation Damage Score

0.0756

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.1%

Validation Efficiency

97% (73/75)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aarsd1	C	A	11: 101,304,807 (GRCm39)	R227L	probably benign	Het
Adamtsl1	A	G	4: 86,195,182 (GRCm39)	Q533R	possibly damaging	Het
Adgb	C	T	10: 10,216,217 (GRCm39)	R1524H	probably damaging	Het
Ank2	A	T	3: 126,792,622 (GRCm39)	N739K	possibly damaging	Het
Ankrd39	C	T	1: 36,581,062 (GRCm39)	G96R	probably damaging	Het
Anxa10	G	A	8: 62,514,080 (GRCm39)	P249L	possibly damaging	Het
Banp	G	A	8: 122,718,334 (GRCm39)	E183K	probably damaging	Het
BC051665	C	G	13: 60,932,435 (GRCm39)	L83F	probably damaging	Het
Btn1a1	A	T	13: 23,643,295 (GRCm39)	F385I	possibly damaging	Het
Chchd4	A	T	6: 91,441,999 (GRCm39)	*140R	probably null	Het
Dcpp2	T	C	17: 24,119,545 (GRCm39)	Y120H	probably damaging	Het
Dlx2	G	A	2: 71,375,805 (GRCm39)	R173C	possibly damaging	Het
Dmbt1	C	A	7: 130,701,030 (GRCm39)	Y1069*	probably null	Het
Dop1a	T	A	9: 86,403,710 (GRCm39)	F1637I	probably damaging	Het
Dusp18	T	C	11: 3,847,202 (GRCm39)	I64T	probably damaging	Het
Evi5l	A	G	8: 4,256,491 (GRCm39)		probably benign	Het
Fiz1	T	C	7: 5,015,849 (GRCm39)	H47R	probably damaging	Het
Fndc3b	G	T	3: 27,697,162 (GRCm39)	P17T	possibly damaging	Het
Gda	A	G	19: 21,405,837 (GRCm39)		probably null	Het
Gm10044	T	C	14: 7,771,181 (GRCm38)		noncoding transcript	Het
Gm12258	T	A	11: 58,749,294 (GRCm39)	S156R	possibly damaging	Het
Gm973	A	G	1: 59,566,131 (GRCm39)	R117G	probably benign	Het
Grwd1	C	T	7: 45,480,064 (GRCm39)	V48I	probably damaging	Het
Ifi209	T	A	1: 173,468,763 (GRCm39)	S198T	probably benign	Het
Inka2	T	A	3: 105,623,930 (GRCm39)	S82R	possibly damaging	Het
Itga1	A	T	13: 115,129,010 (GRCm39)	C549*	probably null	Het
Kmt2c	C	A	5: 25,499,608 (GRCm39)	G511C	probably damaging	Het
Knstrn	T	C	2: 118,664,444 (GRCm39)		probably benign	Het
Lrp2	T	C	2: 69,382,768 (GRCm39)	Y39C	possibly damaging	Het
Maco1	T	C	4: 134,555,445 (GRCm39)	I343V	probably benign	Het
Micos10	T	C	4: 138,833,218 (GRCm39)		probably benign	Het
N4bp2	T	C	5: 65,965,457 (GRCm39)	Y1169H	probably benign	Het
Nbr1	C	T	11: 101,455,633 (GRCm39)	T129I	probably benign	Het
Or52e8	A	C	7: 104,625,189 (GRCm39)	M1R	probably null	Het
Or5k15	A	T	16: 58,710,169 (GRCm39)	M138K	possibly damaging	Het
Or7g25	T	C	9: 19,160,039 (GRCm39)	I219V	probably benign	Het
Oxct1	T	A	15: 4,120,677 (GRCm39)	F254I	probably benign	Het
Patj	T	A	4: 98,342,633 (GRCm39)	S576T	possibly damaging	Het
Pdxdc1	A	T	16: 13,690,363 (GRCm39)	C202S	probably benign	Het
Pet100	A	T	8: 3,672,381 (GRCm39)	I19F	probably damaging	Het
Pik3r5	T	C	11: 68,385,059 (GRCm39)	Y655H	probably damaging	Het
Pkhd1	A	G	1: 20,151,476 (GRCm39)	S3807P	probably damaging	Het
Ptma	A	G	1: 86,454,649 (GRCm39)	T8A	probably damaging	Het
Ptpn3	G	T	4: 57,240,843 (GRCm39)	N257K	probably damaging	Het
R3hdm1	C	A	1: 128,164,409 (GRCm39)	Q1108K	probably benign	Het
Rimbp2	T	C	5: 128,857,406 (GRCm39)	D815G	probably damaging	Het
Scn10a	A	G	9: 119,523,196 (GRCm39)	F66L	probably benign	Het
Selenot	T	C	3: 58,484,296 (GRCm39)		probably null	Het
Serpinb8	A	G	1: 107,526,705 (GRCm39)	T82A	probably benign	Het
Serpini2	G	A	3: 75,175,295 (GRCm39)		probably benign	Het
Slc1a6	G	T	10: 78,631,816 (GRCm39)	G214V	probably benign	Het
Slc5a6	C	A	5: 31,195,444 (GRCm39)	A425S	probably damaging	Het
Smo	C	A	6: 29,736,123 (GRCm39)	N38K	possibly damaging	Het
Smtn	A	T	11: 3,470,811 (GRCm39)	C909*	probably null	Het
Sntg2	C	T	12: 30,308,040 (GRCm39)	R215H	probably benign	Het
Stk4	T	A	2: 163,941,645 (GRCm39)	V287E	probably benign	Het
Tdrd7	A	G	4: 46,005,358 (GRCm39)	D388G	possibly damaging	Het
Ttn	A	T	2: 76,642,652 (GRCm39)	F13294L	probably damaging	Het
Ube2j1	T	G	4: 33,040,745 (GRCm39)	F84V	probably damaging	Het
Ugt3a1	A	G	15: 9,370,287 (GRCm39)	Q477R	probably damaging	Het
Utf1	T	C	7: 139,523,859 (GRCm39)	S25P	probably benign	Het
Vmn1r184	A	T	7: 25,966,413 (GRCm39)	H53L	probably damaging	Het
Vmn2r13	A	T	5: 109,339,860 (GRCm39)	N38K	possibly damaging	Het
Vps13a	C	T	19: 16,699,775 (GRCm39)	D756N	probably damaging	Het
Vwa1	G	T	4: 155,857,695 (GRCm39)	D34E	probably damaging	Het
Zfhx2	A	C	14: 55,301,774 (GRCm39)	L2070R	probably damaging	Het
Zfp984	A	G	4: 147,840,362 (GRCm39)	V163A	probably benign	Het
Zp3r	A	T	1: 130,511,208 (GRCm39)	M325K	probably benign	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
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
R7864:Foxa1	UTSW	12	57,589,533 (GRCm39)	missense	probably damaging	1.00
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'- ACACCTTGGTAGTAGGCTGG -3'
(R):5'- TTCAAGTGTGAGAAGCAGCC -3'

Sequencing Primer
(F):5'- TAGTAGGCTGGCTCCAGG -3'
(R):5'- TGCACGGAAAGGCTAGCC -3'

Posted On

2016-10-24