Mutagenetix > Incidental Mutation

Incidental Mutation 'R8137:Foxa2'

632290

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

067565-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8137 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

147884797-147888889 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 147885768 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 355 (H355R)

Ref Sequence

ENSEMBL: ENSMUSP00000105590 (fasta)

Gene Model

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

AlphaFold

P35583

Predicted Effect

probably benign
Transcript: ENSMUST00000047315
AA Change: H349R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000045918
Gene: ENSMUSG00000037025
AA Change: H349R

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: H355R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000105590
Gene: ENSMUSG00000037025
AA Change: H355R

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

possibly damaging
Transcript: ENSMUST00000172928
AA Change: H174R

PolyPhen 2 Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000134081
Gene: ENSMUSG00000037025
AA Change: H174R

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: 99.8%
3x: 99.6%
10x: 98.8%
20x: 96.4%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankfn1	T	G	11: 89,344,003 (GRCm39)	Q326H	probably benign	Het
Carf	G	A	1: 60,187,124 (GRCm39)	V576I	probably benign	Het
Ccnl1	C	T	3: 65,865,291 (GRCm39)	D87N	possibly damaging	Het
Cgref1	T	A	5: 31,091,749 (GRCm39)	D111V	possibly damaging	Het
Cnot4	G	A	6: 35,023,222 (GRCm39)	P567S	unknown	Het
Cyp7b1	A	T	3: 18,151,765 (GRCm39)	D149E	probably benign	Het
Dcc	A	T	18: 71,511,783 (GRCm39)	D877E	probably benign	Het
Dhx8	T	A	11: 101,654,808 (GRCm39)	I1032N	probably damaging	Het
Dnah7b	A	G	1: 46,272,913 (GRCm39)	Y2347C	probably damaging	Het
Dtx3	A	G	10: 127,029,041 (GRCm39)	S63P	possibly damaging	Het
Dyrk2	C	T	10: 118,695,789 (GRCm39)	E490K	probably benign	Het
Fcgbp	A	C	7: 27,804,496 (GRCm39)	Y1868S	probably damaging	Het
Fpr-rs7	A	G	17: 20,334,055 (GRCm39)	V145A	possibly damaging	Het
Gm14137	A	T	2: 119,005,837 (GRCm39)	E132V	probably benign	Het
Gpn2	T	C	4: 133,315,873 (GRCm39)	S211P	possibly damaging	Het
Greb1l	A	T	18: 10,474,357 (GRCm39)	Q224L	possibly damaging	Het
Gspt1	A	G	16: 11,058,532 (GRCm39)	V144A	probably benign	Het
Ifi204	A	G	1: 173,589,188 (GRCm39)	I81T	possibly damaging	Het
Il27ra	T	A	8: 84,767,720 (GRCm39)		probably null	Het
Kif21a	T	C	15: 90,852,645 (GRCm39)	T862A	probably benign	Het
Klf2	T	C	8: 73,074,088 (GRCm39)		probably null	Het
Kmt2e	A	G	5: 23,706,952 (GRCm39)	Y1505C	probably damaging	Het
Mcm9	T	C	10: 53,499,076 (GRCm39)	T216A		Het
Muc16	T	C	9: 18,556,972 (GRCm39)	E3107G	unknown	Het
Ncor2	C	T	5: 125,114,957 (GRCm39)	V169I		Het
Oas3	T	C	5: 120,915,565 (GRCm39)	Q42R	probably benign	Het
Or2l5	A	G	16: 19,333,846 (GRCm39)	V180A	possibly damaging	Het
Or4p8	T	C	2: 88,727,013 (GRCm39)	*309W	probably null	Het
Pde10a	A	G	17: 9,193,647 (GRCm39)	Y693C	possibly damaging	Het
Pde11a	T	C	2: 76,041,383 (GRCm39)	E429G	possibly damaging	Het
Pramel23	A	G	4: 143,425,835 (GRCm39)	F36S	probably damaging	Het
Pygo1	A	G	9: 72,852,140 (GRCm39)	H109R	probably damaging	Het
Rbsn	A	T	6: 92,167,003 (GRCm39)	V547D	probably benign	Het
Ros1	A	G	10: 52,001,933 (GRCm39)	I1084T	possibly damaging	Het
Sis	T	C	3: 72,796,378 (GRCm39)	D1801G	probably benign	Het
Slco4c1	C	T	1: 96,748,970 (GRCm39)	G649E	probably damaging	Het
Spmip10	A	G	18: 56,727,653 (GRCm39)	D117G	probably damaging	Het
Sptbn2	A	T	19: 4,787,431 (GRCm39)	I914F	possibly damaging	Het
Srebf2	C	T	15: 82,062,966 (GRCm39)	R468C	probably damaging	Het
Strc	C	T	2: 121,197,219 (GRCm39)	G1503R	probably damaging	Het
Sv2c	T	A	13: 96,225,171 (GRCm39)	Y46F	probably damaging	Het
Tctn3	A	T	19: 40,593,785 (GRCm39)	W462R	probably damaging	Het
Tjp3	T	C	10: 81,109,525 (GRCm39)	D857G	probably benign	Het
Tor1aip2	C	T	1: 155,939,414 (GRCm39)	T242I	possibly damaging	Het
Ttn	T	A	2: 76,800,273 (GRCm39)	I312F	unknown	Het
Vezt	T	C	10: 93,775,154 (GRCm39)	N94D		Het
Vmn2r105	T	C	17: 20,454,966 (GRCm39)	N57D	probably benign	Het
Wdr59	T	C	8: 112,212,011 (GRCm39)	D353G		Het
Ykt6	T	C	11: 5,909,368 (GRCm39)	V59A	probably damaging	Het
Ypel3	T	G	7: 126,377,269 (GRCm39)	V54G	possibly damaging	Het
Zfp386	T	A	12: 116,023,268 (GRCm39)	C329S	possibly damaging	Het
Zfp451	A	T	1: 33,821,156 (GRCm39)	L232H	possibly damaging	Het
Zfp648	A	G	1: 154,081,110 (GRCm39)	H423R	probably damaging	Het
Zfp729b	T	C	13: 67,740,861 (GRCm39)	Y468C	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
R8993:Foxa2	UTSW	2	147,886,626 (GRCm39)	missense	probably benign	0.28
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'- ACCTGTTCGTAGGCCTTGAG -3'
(R):5'- AACTGGCACTGAAGGAAGCC -3'

Sequencing Primer
(F):5'- AGGCCTTGAGGTCCATTTTG -3'
(R):5'- AAGAAGACCGCTCCTGGGTC -3'

Posted On

2020-06-30