Mutagenetix > Incidental Mutation

Incidental Mutation 'R6174:Foxa1'

488213

Institutional Source

Beutler Lab

Gene Symbol

Foxa1

Ensembl Gene

ENSMUSG00000035451

Gene Name

forkhead box A1

Synonyms

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6174 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

57587414-57593702 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 57589686 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 178 (L178P)

Ref Sequence

ENSEMBL: ENSMUSP00000041118 (fasta)

Gene Model

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

AlphaFold

P35582

Predicted Effect

probably damaging
Transcript: ENSMUST00000044380
AA Change: L178P

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

SMART Domains

Protein: ENSMUSP00000041118
Gene: ENSMUSG00000035451
AA Change: L178P

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.7%

Validation Efficiency

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	T	A	6: 91,919,517 (GRCm39)	D725E	probably damaging	Het
Bco1	T	A	8: 117,840,273 (GRCm39)	Y264N	probably damaging	Het
Cd109	G	A	9: 78,572,828 (GRCm39)		probably null	Het
Cdc45	T	C	16: 18,613,454 (GRCm39)		probably null	Het
Ckap5	A	G	2: 91,398,564 (GRCm39)	E578G	probably benign	Het
Cracr2b	T	A	7: 141,044,749 (GRCm39)	L193Q	probably damaging	Het
Dmxl2	G	A	9: 54,301,011 (GRCm39)	L2367F	probably damaging	Het
Dop1b	T	G	16: 93,563,110 (GRCm39)	D871E	probably damaging	Het
Emc1	T	C	4: 139,093,842 (GRCm39)	Y651H	probably benign	Het
Enox1	T	C	14: 77,745,627 (GRCm39)	S41P	possibly damaging	Het
Fcgbpl1	A	G	7: 27,839,384 (GRCm39)	Y399C	probably damaging	Het
Gm57859	C	A	11: 113,579,801 (GRCm39)	H399N	possibly damaging	Het
Grm7	T	A	6: 111,223,258 (GRCm39)	Y433N	probably benign	Het
Gsta5	T	A	9: 78,211,737 (GRCm39)	Y166*	probably null	Het
Gtf3c2	G	A	5: 31,315,555 (GRCm39)	R813C	probably damaging	Het
H4c9	T	A	13: 22,225,247 (GRCm39)	T83S	probably benign	Het
Hacd3	T	C	9: 64,912,909 (GRCm39)	E117G	probably damaging	Het
Hmcn1	G	A	1: 150,522,535 (GRCm39)	T3455M	probably benign	Het
Itga6	A	G	2: 71,664,053 (GRCm39)	I61V	possibly damaging	Het
Jaml	T	C	9: 45,000,071 (GRCm39)	L81P	probably damaging	Het
Loxhd1	T	C	18: 77,499,874 (GRCm39)	F782S	probably damaging	Het
Lrp1b	T	C	2: 41,339,275 (GRCm39)	H742R	probably benign	Het
Macrod2	G	T	2: 140,242,895 (GRCm39)	M1I	probably null	Het
Mcf2l	G	A	8: 13,063,849 (GRCm39)	W1020*	probably null	Het
Msgn1	A	G	12: 11,258,924 (GRCm39)	L9P	probably damaging	Het
Ngdn	C	A	14: 55,259,556 (GRCm39)	S202R	probably benign	Het
Notch1	C	T	2: 26,375,454 (GRCm39)	G50R	possibly damaging	Het
Or14c46	A	T	7: 85,918,009 (GRCm39)	D329E	probably benign	Het
Or1a1b	A	T	11: 74,097,466 (GRCm39)	I192N	probably damaging	Het
Or2d2b	A	T	7: 106,705,714 (GRCm39)	M118K	probably damaging	Het
Or5d14	A	T	2: 87,880,646 (GRCm39)	C107*	probably null	Het
Osbpl10	A	G	9: 114,938,555 (GRCm39)	S211G	probably benign	Het
Pabpc6	G	A	17: 9,887,084 (GRCm39)	A489V	probably benign	Het
Pcdhb13	A	T	18: 37,576,474 (GRCm39)	D284V	possibly damaging	Het
Pde6c	T	C	19: 38,128,677 (GRCm39)	S214P	possibly damaging	Het
Pofut1	C	T	2: 153,101,536 (GRCm39)	H192Y	probably damaging	Het
Pou3f2	T	C	4: 22,486,960 (GRCm39)	D391G	possibly damaging	Het
Prc1	G	A	7: 79,954,544 (GRCm39)	S165N	probably benign	Het
Prex1	A	G	2: 166,414,883 (GRCm39)	V304A	probably benign	Het
Ptpru	T	C	4: 131,513,065 (GRCm39)	I881V	probably benign	Het
Radil	A	G	5: 142,472,870 (GRCm39)	S847P	probably benign	Het
Rimklb	A	G	6: 122,433,371 (GRCm39)	S317P	probably damaging	Het
Sdhc	A	T	1: 170,966,271 (GRCm39)	L78*	probably null	Het
Skint6	T	A	4: 112,696,510 (GRCm39)	I1042F	possibly damaging	Het
Slc1a6	T	A	10: 78,637,741 (GRCm39)	D422E	probably damaging	Het
Slc29a1	A	T	17: 45,900,854 (GRCm39)	H71Q	probably damaging	Het
Slfn14	A	T	11: 83,167,429 (GRCm39)	D695E	probably damaging	Het
Spg11	A	T	2: 121,917,286 (GRCm39)		probably null	Het
Srgap2	A	G	1: 131,217,354 (GRCm39)	V986A	probably benign	Het
Stab1	A	T	14: 30,884,476 (GRCm39)	C172*	probably null	Het
Tigd4	A	G	3: 84,502,574 (GRCm39)	H497R	probably benign	Het
Ubn2	G	A	6: 38,438,471 (GRCm39)	G60D	probably damaging	Het
Uckl1	C	T	2: 181,214,866 (GRCm39)		probably null	Het
Vmn2r24	A	T	6: 123,793,236 (GRCm39)	K854N	probably benign	Het
Vps13d	G	A	4: 144,701,763 (GRCm39)	Q3193*	probably null	Het
Wdr26	G	A	1: 181,019,433 (GRCm39)	L315F	probably damaging	Het
Zc3h8	C	A	2: 128,785,775 (GRCm39)	E24*	probably null	Het
Zfp39	A	G	11: 58,782,213 (GRCm39)	V183A	probably benign	Het
Zfp608	C	A	18: 55,121,616 (GRCm39)		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
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
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'- TCGTGCCACCTTGACGAAAC -3'
(R):5'- TCAGCAACATGAACTCCGGC -3'

Sequencing Primer
(F):5'- CGAAACAATCGTTGAAGGACAGC -3'
(R):5'- TGGGCTCTATGAACTCCATGAAC -3'

Posted On

2017-10-10