Mutagenetix > Incidental Mutation

Incidental Mutation 'R1743:Hnf4a'

200481

Institutional Source

Beutler Lab

Gene Symbol

Hnf4a

Ensembl Gene

ENSMUSG00000017950

Gene Name

hepatic nuclear factor 4, alpha

Synonyms

Nuclear receptor 2A1, Nr2a1, HNF-4, Tcf4, MODY1, Hnf4, Tcf14, HNF4 alpha

MMRRC Submission

039775-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1743 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

163348731-163414827 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 163408259 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 362 (Q362K)

Ref Sequence

ENSEMBL: ENSMUSP00000105038 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018094] [ENSMUST00000109411]

AlphaFold

P49698

Predicted Effect

possibly damaging
Transcript: ENSMUST00000018094
AA Change: Q371K

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

SMART Domains

Protein: ENSMUSP00000018094
Gene: ENSMUSG00000017950
AA Change: Q371K

Domain	Start	End	E-Value	Type
ZnF_C4	57	128	7.83e-38	SMART
HOLI	189	348	1.12e-47	SMART
low complexity region	383	393	N/A	INTRINSIC
low complexity region	426	445	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109411
AA Change: Q362K

PolyPhen 2 Score 0.649 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000105038
Gene: ENSMUSG00000017950
AA Change: Q362K

Domain	Start	End	E-Value	Type
ZnF_C4	48	119	7.83e-38	SMART
HOLI	180	339	1.12e-47	SMART
low complexity region	374	384	N/A	INTRINSIC
low complexity region	417	436	N/A	INTRINSIC

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 91.7%

Validation Efficiency

MGI Phenotype

FUNCTION: The protein encoded by this gene is a transcription factor involved in the development of the pancreas, liver, kidney, and intestines. The encoded protein also functions to maintain glucose homeostasis. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2015]
PHENOTYPE: Nullizygous embryos show delayed growth and lethality, impaired gastrulation, abnormal primitive streak and mesoderm formation, ectoderm apoptosis, and extraembryonic tissue dysplasia. Mice expressing only the alpha1 isoform show glucose intolerance whereas mice expressing alpha7 show dyslipidemia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aff4	T	A	11: 53,259,522 (GRCm39)	M11K	possibly damaging	Het
Ank2	T	C	3: 126,722,324 (GRCm39)	D88G	probably damaging	Het
Arhgap32	A	G	9: 32,170,727 (GRCm39)	E1169G	probably benign	Het
Atp7b	A	T	8: 22,496,403 (GRCm39)	V865E	probably damaging	Het
Bcl2l13	T	A	6: 120,825,504 (GRCm39)	Y13*	probably null	Het
Birc6	A	G	17: 74,886,751 (GRCm39)	Q693R	possibly damaging	Het
Bub1	T	C	2: 127,655,770 (GRCm39)	D520G	probably damaging	Het
Ccdc15	A	T	9: 37,188,773 (GRCm39)	Y770*	probably null	Het
Cenpf	T	C	1: 189,386,460 (GRCm39)	E1940G	probably benign	Het
Cep295	C	T	9: 15,252,179 (GRCm39)	E397K	probably damaging	Het
Cmya5	A	G	13: 93,233,825 (GRCm39)	V421A	probably benign	Het
Cnnm1	A	T	19: 43,460,352 (GRCm39)	Y698F	possibly damaging	Het
Cnst	C	T	1: 179,437,957 (GRCm39)	T507I	probably benign	Het
Coq8a	T	C	1: 180,009,794 (GRCm39)	M4V	probably benign	Het
Csmd3	A	G	15: 48,485,485 (GRCm39)	L140P	probably damaging	Het
Cul2	A	T	18: 3,426,851 (GRCm39)	I431F	probably damaging	Het
Dnah8	G	T	17: 30,988,625 (GRCm39)	E3198D	probably benign	Het
Dnai3	C	A	3: 145,803,017 (GRCm39)	R58L	possibly damaging	Het
Epn2	T	A	11: 61,437,237 (GRCm39)	I112F	possibly damaging	Het
Ext2	T	C	2: 93,560,570 (GRCm39)	E532G	probably damaging	Het
Fndc3a	A	T	14: 72,889,521 (GRCm39)	V37E	probably damaging	Het
Gabbr2	A	G	4: 46,677,603 (GRCm39)	F759S	possibly damaging	Het
Ghr	G	A	15: 3,349,723 (GRCm39)	P485L	probably benign	Het
Glipr1l2	G	T	10: 111,928,470 (GRCm39)	V122L	probably benign	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 118,989,784 (GRCm39)		probably benign	Het
Gm6871	G	T	7: 41,195,876 (GRCm39)	T287K	probably damaging	Het
Gm7275	A	G	16: 47,894,120 (GRCm39)		noncoding transcript	Het
Hephl1	C	T	9: 15,001,364 (GRCm39)	V254I	probably damaging	Het
Kcne3	C	T	7: 99,833,631 (GRCm39)	R83C	probably damaging	Het
Klb	C	A	5: 65,533,204 (GRCm39)	N504K	probably damaging	Het
Loxl2	T	A	14: 69,929,851 (GRCm39)	I743N	possibly damaging	Het
Lrrc9	A	T	12: 72,502,891 (GRCm39)	L287F	probably damaging	Het
Mcm3ap	C	T	10: 76,320,508 (GRCm39)	P822L	possibly damaging	Het
Nacc2	T	C	2: 25,950,155 (GRCm39)	N527S	probably benign	Het
Ncam1	G	T	9: 49,468,445 (GRCm39)	P338H	probably damaging	Het
Nfkbiz	G	T	16: 55,636,757 (GRCm39)	Q515K	possibly damaging	Het
Nipsnap2	T	C	5: 129,834,149 (GRCm39)	L263P	probably damaging	Het
Nlrp1a	A	T	11: 71,015,032 (GRCm39)	S73T	probably benign	Het
Nomo1	G	A	7: 45,719,461 (GRCm39)		probably null	Het
Nos3	G	A	5: 24,582,310 (GRCm39)	G594D	probably benign	Het
Oprm1	A	G	10: 6,780,105 (GRCm39)	I256V	probably damaging	Het
Or10ak16	A	G	4: 118,750,723 (GRCm39)	T148A	probably benign	Het
Or10n1	A	T	9: 39,524,916 (GRCm39)	T18S	possibly damaging	Het
Or2b2	A	G	13: 21,887,620 (GRCm39)	I150V	probably benign	Het
Oxct2a	A	T	4: 123,217,309 (GRCm39)	L24Q	possibly damaging	Het
Pcdhb14	T	G	18: 37,581,231 (GRCm39)	S112R	probably benign	Het
Polr2a	A	G	11: 69,630,329 (GRCm39)	I1246T	probably damaging	Het
Ppil4	A	T	10: 7,683,145 (GRCm39)	K327N	probably damaging	Het
Pramel30	T	C	4: 144,059,575 (GRCm39)	S429P	probably benign	Het
Pstpip1	T	C	9: 56,033,214 (GRCm39)	Y249H	probably damaging	Het
Qrsl1	A	T	10: 43,757,511 (GRCm39)	V369E	probably damaging	Het
Ranbp10	G	T	8: 106,506,610 (GRCm39)	P237T	probably damaging	Het
Rapgef6	A	G	11: 54,567,110 (GRCm39)	N1097S	probably damaging	Het
Repin1	T	A	6: 48,574,684 (GRCm39)	S538T	probably damaging	Het
Rims2	A	T	15: 39,543,046 (GRCm39)	M1151L	probably benign	Het
Rin3	T	A	12: 102,356,355 (GRCm39)	D965E	possibly damaging	Het
Sdc2	A	G	15: 33,028,224 (GRCm39)	D114G	probably benign	Het
Slc25a30	C	A	14: 76,012,523 (GRCm39)	A42S	probably benign	Het
Sphkap	G	A	1: 83,255,236 (GRCm39)	R838*	probably null	Het
Ssh2	T	A	11: 77,328,582 (GRCm39)	F383I	probably damaging	Het
St8sia1	A	T	6: 142,774,742 (GRCm39)	V279E	probably damaging	Het
Tacc2	C	A	7: 130,228,328 (GRCm39)	S1690*	probably null	Het
Taf1b	A	G	12: 24,597,177 (GRCm39)	D372G	possibly damaging	Het
Timm21	G	C	18: 84,967,387 (GRCm39)	L130V	probably damaging	Het
Tmem165	G	T	5: 76,355,673 (GRCm39)	G272C	probably damaging	Het
Tsc22d2	TCAGTTAACACCTATGAACAGT	TCAGT	3: 58,324,960 (GRCm39)		probably null	Het
Tssk4	C	A	14: 55,888,488 (GRCm39)	A119D	probably damaging	Het
Usp9y	A	G	Y: 1,316,727 (GRCm39)	Y1941H	probably damaging	Het
Vmn2r42	A	T	7: 8,187,264 (GRCm39)	M786K	probably benign	Het
Wdfy3	G	T	5: 101,991,931 (GRCm39)	T3470K	probably benign	Het
Zc3h14	T	C	12: 98,745,448 (GRCm39)	V479A	probably benign	Het
Zfp821	G	A	8: 110,450,796 (GRCm39)	R263Q	probably damaging	Het

Other mutations in Hnf4a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01393:Hnf4a	APN	2	163,393,492 (GRCm39)	splice site	probably benign
IGL02077:Hnf4a	APN	2	163,404,527 (GRCm39)	critical splice donor site	probably null
IGL02419:Hnf4a	APN	2	163,408,202 (GRCm39)	missense	probably damaging	1.00
IGL02931:Hnf4a	APN	2	163,408,037 (GRCm39)	splice site	probably benign
R0230:Hnf4a	UTSW	2	163,401,005 (GRCm39)	missense	probably damaging	1.00
R1670:Hnf4a	UTSW	2	163,404,496 (GRCm39)	missense	probably damaging	1.00
R2131:Hnf4a	UTSW	2	163,389,338 (GRCm39)	missense	probably benign	0.10
R2509:Hnf4a	UTSW	2	163,408,161 (GRCm39)	missense	probably damaging	1.00
R4209:Hnf4a	UTSW	2	163,410,809 (GRCm39)	missense	probably benign	0.00
R4737:Hnf4a	UTSW	2	163,406,139 (GRCm39)	missense	probably benign	0.05
R5478:Hnf4a	UTSW	2	163,410,926 (GRCm39)	missense	probably benign
R6382:Hnf4a	UTSW	2	163,410,926 (GRCm39)	missense	probably benign
R7016:Hnf4a	UTSW	2	163,406,193 (GRCm39)	missense	probably damaging	1.00
R7443:Hnf4a	UTSW	2	163,400,932 (GRCm39)	missense	probably benign	0.03
R7875:Hnf4a	UTSW	2	163,400,980 (GRCm39)	nonsense	probably null
R9189:Hnf4a	UTSW	2	163,393,497 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GAGCCTGGAGGATTACATCAACGAC -3'
(R):5'- AGACCCTCAGCGTCTGAACAAATG -3'

Sequencing Primer
(F):5'- ACCGGCAGTACGACTCTC -3'
(R):5'- TCAGATGCAGCTGAAGTCTG -3'

Posted On

2014-05-23