Mutagenetix > Incidental Mutation

Incidental Mutation 'R9270:Foxa2'

702818

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9270 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

147884797-147888889 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 147886426 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 136 (M136L)

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: M130L

PolyPhen 2 Score 0.489 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000045918
Gene: ENSMUSG00000037025
AA Change: M130L

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: M136L

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000105590
Gene: ENSMUSG00000037025
AA Change: M136L

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: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (85/85)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actrt3	T	A	3: 30,652,781 (GRCm39)	E104D	probably damaging	Het
Aig1	T	C	10: 13,529,505 (GRCm39)		probably null	Het
Arih2	A	T	9: 108,493,890 (GRCm39)	D174E	probably damaging	Het
Asprv1	T	C	6: 86,606,077 (GRCm39)	F308L	probably damaging	Het
Baiap2l2	A	G	15: 79,168,205 (GRCm39)		probably null	Het
Btla	T	C	16: 45,064,656 (GRCm39)	F203L	possibly damaging	Het
C1rb	A	T	6: 124,551,947 (GRCm39)	D283V	probably damaging	Het
C87436	C	G	6: 86,442,813 (GRCm39)	Q462E	probably benign	Het
Ccdc149	T	C	5: 52,563,352 (GRCm39)	D147G	possibly damaging	Het
Chd6	A	T	2: 160,871,793 (GRCm39)	L214*	probably null	Het
Chrna4	C	A	2: 180,670,643 (GRCm39)	R371L	possibly damaging	Het
Cpne5	A	G	17: 29,444,163 (GRCm39)		probably null	Het
Cr1l	T	C	1: 194,789,204 (GRCm39)	E400G	possibly damaging	Het
Creb3l2	T	C	6: 37,332,583 (GRCm39)	N304D	probably damaging	Het
Cyp17a1	T	C	19: 46,656,030 (GRCm39)	T420A	probably benign	Het
Cyp24a1	A	G	2: 170,327,853 (GRCm39)	I463T	probably damaging	Het
Cyp3a41b	A	T	5: 145,514,973 (GRCm39)	I84N	probably damaging	Het
Dnajc6	G	A	4: 101,496,559 (GRCm39)	V909M	possibly damaging	Het
Dtl	A	G	1: 191,288,923 (GRCm39)	Y264H	probably damaging	Het
Dynlt5	A	G	4: 102,845,955 (GRCm39)		probably null	Het
Dysf	C	T	6: 84,077,216 (GRCm39)	R660*	probably null	Het
Egf	A	G	3: 129,529,449 (GRCm39)		probably null	Het
Eva1c	T	C	16: 90,701,231 (GRCm39)	S402P	probably benign	Het
Fcho2	A	T	13: 98,925,869 (GRCm39)		probably null	Het
Fhdc1	G	A	3: 84,352,290 (GRCm39)	R197C	unknown	Het
Gm10226	T	C	17: 21,910,866 (GRCm39)	C34R	possibly damaging	Het
Gm8947	T	C	1: 151,068,853 (GRCm39)	S229P	probably benign	Het
Ift56	C	T	6: 38,366,109 (GRCm39)		probably benign	Het
Ighv9-2	A	T	12: 114,072,896 (GRCm39)	S26T	probably damaging	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Kat6a	T	G	8: 23,420,190 (GRCm39)	I745M	probably damaging	Het
Klhdc1	T	C	12: 69,309,968 (GRCm39)	L290P	probably damaging	Het
Lcp2	C	T	11: 34,039,688 (GRCm39)	T496I		Het
Map4k4	T	C	1: 40,042,923 (GRCm39)	W593R	probably benign	Het
Mefv	T	G	16: 3,535,841 (GRCm39)	Q29P	probably damaging	Het
Mgat5b	T	C	11: 116,859,269 (GRCm39)	Y34H		Het
Mlip	C	T	9: 77,137,080 (GRCm39)	R609Q	probably benign	Het
Muc2	A	G	7: 141,290,816 (GRCm39)	D34G		Het
Nbeal1	C	T	1: 60,307,548 (GRCm39)	P1687S	possibly damaging	Het
Notch1	T	A	2: 26,369,895 (GRCm39)	I477L	probably damaging	Het
Odad2	T	A	18: 7,217,846 (GRCm39)	K623*	probably null	Het
Or1l4b	G	A	2: 37,037,047 (GRCm39)	M274I	probably benign	Het
Or1s2	T	C	19: 13,758,333 (GRCm39)	V117A	probably benign	Het
Or4a2	A	T	2: 89,248,712 (GRCm39)	L15Q	probably damaging	Het
Or51v8	T	A	7: 103,320,124 (GRCm39)	N38I	probably damaging	Het
Or6c214	A	G	10: 129,591,148 (GRCm39)	M57T	probably damaging	Het
Pak5	A	T	2: 135,958,688 (GRCm39)	S133R	probably damaging	Het
Pcyt1a	C	A	16: 32,285,332 (GRCm39)	D187E	probably benign	Het
Pdlim7	G	T	13: 55,655,354 (GRCm39)	T161K	probably damaging	Het
Phf8-ps	A	C	17: 33,286,701 (GRCm39)	C34G	probably damaging	Het
Pik3r4	A	G	9: 105,547,108 (GRCm39)	K962R	probably benign	Het
Pkd1l2	T	C	8: 117,759,433 (GRCm39)	K1516E	probably damaging	Het
Plk5	C	G	10: 80,193,830 (GRCm39)	R40G	probably damaging	Het
Ptchd3	A	T	11: 121,733,180 (GRCm39)	Y690F	probably benign	Het
Ptpn13	A	T	5: 103,649,735 (GRCm39)	R379S	possibly damaging	Het
Rbm27	C	T	18: 42,438,829 (GRCm39)	A410V	probably benign	Het
Rnase4	A	G	14: 51,342,662 (GRCm39)	T129A	probably benign	Het
Serpinb11	C	T	1: 107,304,533 (GRCm39)	T166I	probably benign	Het
Shank2	A	G	7: 143,963,705 (GRCm39)	T438A	possibly damaging	Het
Slc13a2	T	C	11: 78,295,258 (GRCm39)	N172D	probably damaging	Het
Slc2a8	A	G	2: 32,864,864 (GRCm39)	F428L	probably damaging	Het
Slc38a6	T	C	12: 73,398,544 (GRCm39)	M358T	probably benign	Het
Snx29	A	G	16: 11,213,155 (GRCm39)	H107R	probably benign	Het
Spint3	G	A	2: 164,415,154 (GRCm39)	A21V	probably benign	Het
Susd1	A	T	4: 59,412,226 (GRCm39)	V162E	probably benign	Het
Syne2	T	G	12: 75,977,834 (GRCm39)	N1426K	probably damaging	Het
Synj2	T	C	17: 6,067,875 (GRCm39)	V638A	possibly damaging	Het
Thada	A	T	17: 84,538,589 (GRCm39)	L1473Q	probably damaging	Het
Trim36	G	A	18: 46,300,580 (GRCm39)	S697L	possibly damaging	Het
Ttbk1	A	T	17: 46,781,517 (GRCm39)	I412N	possibly damaging	Het
Tubb2a	T	C	13: 34,258,578 (GRCm39)	D404G	probably damaging	Het
Tyk2	T	A	9: 21,035,841 (GRCm39)	N114Y	probably damaging	Het
Umodl1	A	G	17: 31,185,678 (GRCm39)	D139G	probably damaging	Het
Urb2	A	G	8: 124,750,192 (GRCm39)		probably benign	Het
Vmn2r101	T	A	17: 19,810,244 (GRCm39)	N343K	probably benign	Het
Vnn1	A	G	10: 23,780,464 (GRCm39)	D484G	probably damaging	Het
Vps13b	A	G	15: 35,770,919 (GRCm39)	T2121A	probably benign	Het
Wdr81	T	C	11: 75,345,216 (GRCm39)	E17G	probably benign	Het
Wnk2	T	G	13: 49,224,505 (GRCm39)	K1117Q	probably benign	Het
Zbtb46	C	T	2: 181,066,138 (GRCm39)	R4Q	probably benign	Het
Zfp608	T	A	18: 55,032,190 (GRCm39)	K583N	probably damaging	Het
Zfp729b	A	T	13: 67,740,480 (GRCm39)	L595H	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
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
R9648:Foxa2	UTSW	2	147,887,799 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGTTCTGCCGGTAGAAAG -3'
(R):5'- ATGTCATCCTATGTGGGCGC -3'

Sequencing Primer
(F):5'- GAGGTCCATGATCCACTGATAGATC -3'
(R):5'- ATCCTATGTGGGCGCTGGAATG -3'

Posted On

2022-03-25