Mutagenetix > Incidental Mutation

Incidental Mutation 'R7443:Hnf4a'

577073

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

045519-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7443 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

163348731-163414827 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 163400932 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 184 (I184V)

Ref Sequence

ENSEMBL: ENSMUSP00000018094 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018094] [ENSMUST00000109411] [ENSMUST00000137449]

AlphaFold

P49698

Predicted Effect

probably benign
Transcript: ENSMUST00000018094
AA Change: I184V

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000018094
Gene: ENSMUSG00000017950
AA Change: I184V

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

probably benign
Transcript: ENSMUST00000109411
AA Change: I175V

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000105038
Gene: ENSMUSG00000017950
AA Change: I175V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000137449
AA Change: I160V

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000123511
Gene: ENSMUSG00000017950
AA Change: I160V

Domain	Start	End	E-Value	Type
ZnF_C4	33	104	7.83e-38	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

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
Abl2	T	C	1: 156,452,951 (GRCm39)	I162T	probably damaging	Het
Acaca	G	A	11: 84,206,619 (GRCm39)	S1493N	probably benign	Het
Arf2	T	A	11: 103,859,976 (GRCm39)	M18K	probably benign	Het
Bag5	A	G	12: 111,677,161 (GRCm39)	S221P	probably damaging	Het
Bcr	T	C	10: 74,978,968 (GRCm39)		probably null	Het
Btg2	T	A	1: 134,005,433 (GRCm39)	K51*	probably null	Het
Chrne	A	G	11: 70,509,092 (GRCm39)	V130A	probably benign	Het
Cracd	T	C	5: 77,004,485 (GRCm39)	V282A	unknown	Het
Cubn	T	A	2: 13,460,320 (GRCm39)	D714V	probably damaging	Het
Cyp4a29	A	T	4: 115,105,756 (GRCm39)	I153F	probably damaging	Het
Dph7	C	A	2: 24,852,505 (GRCm39)	H5Q	probably benign	Het
Epha6	T	C	16: 59,595,988 (GRCm39)	N901S	possibly damaging	Het
Exosc9	C	A	3: 36,607,990 (GRCm39)	P66Q	probably damaging	Het
Foxn3	T	C	12: 99,355,038 (GRCm39)	D42G	possibly damaging	Het
Gbp11	A	G	5: 105,478,816 (GRCm39)		probably null	Het
Gm3264	A	T	14: 16,058,304 (GRCm39)	Y37F	probably damaging	Het
H2-M10.2	T	A	17: 36,596,945 (GRCm39)	I44F	probably benign	Het
Hemgn	A	T	4: 46,396,145 (GRCm39)	F364I	probably damaging	Het
Ighe	G	T	12: 113,235,785 (GRCm39)	C180*	probably null	Het
Iigp1c	A	T	18: 60,379,122 (GRCm39)	N219I	probably benign	Het
Klk1b22	T	A	7: 43,765,534 (GRCm39)	I162K	probably benign	Het
Lmo3	C	T	6: 138,354,220 (GRCm39)	A104T	probably damaging	Het
Lsm14a	A	G	7: 34,053,263 (GRCm39)	V263A	probably benign	Het
Ltbp1	T	C	17: 75,671,432 (GRCm39)	Y1538H	probably damaging	Het
Ly6g6g	T	C	15: 74,647,249 (GRCm39)	E32G		Het
Map9	A	G	3: 82,278,663 (GRCm39)	E221G	possibly damaging	Het
Mccc2	G	A	13: 100,130,144 (GRCm39)	A71V	possibly damaging	Het
Mdc1	T	A	17: 36,161,712 (GRCm39)	V875E	probably damaging	Het
Mier2	A	T	10: 79,376,289 (GRCm39)	I212N	unknown	Het
Mitd1	T	C	1: 37,920,117 (GRCm39)	T164A	probably benign	Het
Myh1	T	C	11: 67,111,331 (GRCm39)	I1590T	probably benign	Het
Mylk2	T	G	2: 152,753,346 (GRCm39)		probably benign	Het
Ncapg	T	A	5: 45,829,652 (GRCm39)	V118E	probably benign	Het
Nynrin	G	A	14: 56,108,873 (GRCm39)	V1327I	probably benign	Het
Oas1c	C	A	5: 120,943,484 (GRCm39)	K218N	probably damaging	Het
Or11g24	A	G	14: 50,662,507 (GRCm39)	D177G	probably damaging	Het
Or13a18	A	G	7: 140,190,961 (GRCm39)	N286S	probably damaging	Het
Or1e23	A	T	11: 73,407,674 (GRCm39)	V117D	possibly damaging	Het
Or4a80	T	A	2: 89,582,285 (GRCm39)	M296L	probably benign	Het
Or5g26	T	A	2: 85,493,912 (GRCm39)	I289F	probably damaging	Het
Or5h17	T	A	16: 58,820,353 (GRCm39)	F102I	probably damaging	Het
Otoa	A	T	7: 120,731,633 (GRCm39)	M618L	probably benign	Het
P3r3urf	G	A	4: 116,030,664 (GRCm39)	G23R	probably benign	Het
Plcg2	A	T	8: 118,231,028 (GRCm39)	T37S	probably benign	Het
Plekhg4	T	C	8: 106,107,499 (GRCm39)	L1010P	probably damaging	Het
Plxnb1	T	C	9: 108,943,675 (GRCm39)	F1921L	probably damaging	Het
Prss47	T	A	13: 65,197,303 (GRCm39)	K144N	probably damaging	Het
Rapgef2	T	C	3: 78,988,531 (GRCm39)	K953E	probably damaging	Het
Rasip1	T	A	7: 45,288,148 (GRCm39)	I909N	probably damaging	Het
Rps5	A	G	7: 12,656,922 (GRCm39)	T8A	probably benign	Het
Rsbn1l	T	C	5: 21,132,621 (GRCm39)	K213E	possibly damaging	Het
Serpinb5	T	C	1: 106,809,700 (GRCm39)	F369L	probably benign	Het
Slc4a5	T	C	6: 83,241,297 (GRCm39)	V306A	probably benign	Het
Sox13	T	C	1: 133,312,369 (GRCm39)	Y465C	probably damaging	Het
Sox13	C	A	1: 133,312,311 (GRCm39)	K484N	probably damaging	Het
Stx3	A	G	19: 11,769,208 (GRCm39)	I39T	possibly damaging	Het
Tbc1d5	T	C	17: 51,273,763 (GRCm39)	Y116C	probably damaging	Het
Tcp11l1	T	A	2: 104,514,480 (GRCm39)	Q429L	probably benign	Het
Tns3	G	A	11: 8,401,442 (GRCm39)	T952I	probably benign	Het
Trib3	T	C	2: 152,181,692 (GRCm39)	H176R	possibly damaging	Het
Trim12a	A	G	7: 103,950,049 (GRCm39)	Y297H	probably damaging	Het
Unc13a	A	G	8: 72,083,603 (GRCm39)	V1577A	probably damaging	Het
Vezf1	C	A	11: 87,965,489 (GRCm39)	P244T	probably damaging	Het
Vmn1r121	T	A	7: 20,831,945 (GRCm39)	D165V	probably damaging	Het
Vmn2r117	T	A	17: 23,679,107 (GRCm39)	I706F	probably benign	Het
Vmn2r117	C	T	17: 23,679,319 (GRCm39)	C635Y	probably damaging	Het
Vmn2r13	T	A	5: 109,339,909 (GRCm39)	H22L	probably benign	Het
Vmn2r87	A	T	10: 130,308,588 (GRCm39)	M550K	probably damaging	Het
Wdr6	A	G	9: 108,451,489 (GRCm39)	L798P	probably damaging	Het
Wtap	C	T	17: 13,199,821 (GRCm39)	G54D	probably benign	Het
Zfp827	A	G	8: 79,917,047 (GRCm39)	S541G		Het
Zkscan3	A	T	13: 21,572,608 (GRCm39)	Y341*	probably null	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
R1743:Hnf4a	UTSW	2	163,408,259 (GRCm39)	missense	possibly damaging	0.65
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
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'- AGTGCTCCCTGCTTATGAATCC -3'
(R):5'- TGAATAAAATCAATCCAGCTCCAGG -3'

Sequencing Primer
(F):5'- TGACCTAGCAGTGCACAGTCTAG -3'
(R):5'- CCAGGCTATGTCTTTGAGGGGAC -3'

Posted On

2019-10-07