Mutagenetix > Incidental Mutation

Incidental Mutation 'R8153:Hnf4g'

633122

Institutional Source

Beutler Lab

Gene Symbol

Hnf4g

Ensembl Gene

ENSMUSG00000017688

Gene Name

hepatocyte nuclear factor 4, gamma

Synonyms

NR2A2

MMRRC Submission

067579-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.200) question?

Stock #

R8153 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

3573090-3724863 bp(+) (GRCm39)

Type of Mutation

start gained

DNA Base Change (assembly)

C to T at 3699250 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000104031 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000108393] [ENSMUST00000108394]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000108393

SMART Domains

Protein: ENSMUSP00000104030
Gene: ENSMUSG00000017688

Domain	Start	End	E-Value	Type
ZnF_C4	9	80	6.51e-35	SMART
low complexity region	118	125	N/A	INTRINSIC
HOLI	141	299	7.29e-47	SMART
low complexity region	334	345	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108394

SMART Domains

Protein: ENSMUSP00000104031
Gene: ENSMUSG00000017688

Domain	Start	End	E-Value	Type
ZnF_C4	63	134	6.51e-35	SMART
low complexity region	172	179	N/A	INTRINSIC
HOLI	195	353	7.29e-47	SMART
low complexity region	388	399	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.9%
10x: 99.5%
20x: 98.7%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele are less inclined to build nests, spend more time in a passive state during the forced swim test, and display a reduction in energy expenditure and night time activity that results in increased body weight despite adecreased intake of food and water. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	T	A	7: 41,275,157 (GRCm39)	S287T	probably benign	Het
Abca15	T	C	7: 119,999,812 (GRCm39)	S1429P	probably damaging	Het
Arfgef2	GTGTGCAGAAACT	GT	2: 166,676,383 (GRCm39)	92	probably null	Het
C1qb	A	G	4: 136,607,877 (GRCm39)	V162A	possibly damaging	Het
Cachd1	G	T	4: 100,845,835 (GRCm39)		probably null	Het
Cfap61	T	C	2: 146,042,704 (GRCm39)	I1159T	probably benign	Het
Csf1	T	A	3: 107,656,020 (GRCm39)	D337V	probably damaging	Het
Ddhd2	T	A	8: 26,240,816 (GRCm39)	T251S	probably benign	Het
Dnah5	A	G	15: 28,384,576 (GRCm39)	T3107A	probably damaging	Het
Dnph1	T	C	17: 46,809,965 (GRCm39)	V169A	probably benign	Het
Ebf2	T	C	14: 67,627,914 (GRCm39)	V303A	probably damaging	Het
Eif4a3l2	A	T	6: 116,528,968 (GRCm39)	I282F	probably damaging	Het
Enpp3	A	G	10: 24,685,777 (GRCm39)	F206S	probably damaging	Het
Fam151b	G	T	13: 92,614,410 (GRCm39)	T26K	probably damaging	Het
Fga	T	C	3: 82,938,164 (GRCm39)	S180P	probably damaging	Het
Fpr-rs3	A	G	17: 20,844,685 (GRCm39)	L152P	probably damaging	Het
Gen1	C	A	12: 11,310,948 (GRCm39)	G95W	probably damaging	Het
Ggta1	T	A	2: 35,313,333 (GRCm39)	T3S	possibly damaging	Het
Gm4884	T	A	7: 40,692,582 (GRCm39)	C184S	probably benign	Het
Gpr137b	T	C	13: 13,533,991 (GRCm39)	Y355C		Het
Gsx2	T	C	5: 75,237,716 (GRCm39)	S223P	probably damaging	Het
Iqub	A	C	6: 24,450,789 (GRCm39)	Y603*	probably null	Het
Klhl22	A	G	16: 17,610,414 (GRCm39)	N555S	probably damaging	Het
Lama5	T	C	2: 179,829,724 (GRCm39)	D1928G	probably benign	Het
Lamb2	C	T	9: 108,357,845 (GRCm39)	R123W	probably damaging	Het
Lamc2	CATCAGCTA	CA	1: 152,999,850 (GRCm39)		probably null	Het
Lgr4	T	A	2: 109,830,645 (GRCm39)	F255I	probably damaging	Het
Lnx2	T	C	5: 146,964,906 (GRCm39)	N439S	probably benign	Het
Lztr1	G	T	16: 17,336,439 (GRCm39)		probably null	Het
Mtcl3	G	T	10: 29,024,235 (GRCm39)	E384*	probably null	Het
Nfkb2	G	T	19: 46,296,455 (GRCm39)	R241L	probably damaging	Het
Nrcam	T	C	12: 44,631,755 (GRCm39)	F1103L	probably benign	Het
Or2g1	A	G	17: 38,106,367 (GRCm39)	I11V	probably benign	Het
Or5k17	A	G	16: 58,746,149 (GRCm39)	S262P	possibly damaging	Het
Or8d2	A	G	9: 38,759,631 (GRCm39)	I74V	possibly damaging	Het
Or8g52	A	G	9: 39,630,954 (GRCm39)	M144V	possibly damaging	Het
Otof	C	A	5: 30,546,079 (GRCm39)	A425S	probably damaging	Het
Parg	T	A	14: 31,984,777 (GRCm39)	L774H	probably damaging	Het
Pcnx1	C	T	12: 81,965,593 (GRCm39)	R59*	probably null	Het
Pcnx4	T	A	12: 72,603,017 (GRCm39)	F426L	probably benign	Het
Pde5a	T	G	3: 122,646,225 (GRCm39)	S805R	probably benign	Het
Pde5a	T	A	3: 122,646,227 (GRCm39)	M806K	probably damaging	Het
Plekhh1	T	C	12: 79,125,812 (GRCm39)	S1283P	probably benign	Het
Ppp1r12a	A	G	10: 107,998,303 (GRCm39)	K15E	probably damaging	Het
Prkdc	A	T	16: 15,482,108 (GRCm39)	M384L	probably damaging	Het
Ptchd4	A	G	17: 42,814,787 (GRCm39)	D896G	probably benign	Het
Rsf1	GGC	GGCTACGGCCGC	7: 97,229,113 (GRCm39)		probably benign	Het
Slmap	T	C	14: 26,254,488 (GRCm39)	S65G	probably benign	Het
Snta1	C	A	2: 154,222,722 (GRCm39)	L298F	probably damaging	Het
Sphkap	T	G	1: 83,255,730 (GRCm39)	N673T	possibly damaging	Het
St8sia5	T	G	18: 77,340,807 (GRCm39)		probably null	Het
Tgm6	T	C	2: 129,986,975 (GRCm39)	V481A	probably benign	Het
Thada	T	C	17: 84,700,855 (GRCm39)	N1217S	possibly damaging	Het
Tia1	C	G	6: 86,397,314 (GRCm39)	H107D	probably damaging	Het
Ttn	A	G	2: 76,746,956 (GRCm39)	Y4698H	probably benign	Het
Ube3c	T	C	5: 29,811,929 (GRCm39)	Y390H	possibly damaging	Het
Ubqln5	A	G	7: 103,778,011 (GRCm39)	I271T	possibly damaging	Het
Vmn2r109	A	G	17: 20,784,969 (GRCm39)	V17A	probably benign	Het
Xkr9	A	G	1: 13,754,363 (GRCm39)	D119G	probably benign	Het
Zfp236	C	T	18: 82,648,152 (GRCm39)	C1003Y	probably damaging	Het

Other mutations in Hnf4g

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Hnf4g	APN	3	3,713,142 (GRCm39)	missense	probably benign
IGL00832:Hnf4g	APN	3	3,706,336 (GRCm39)	missense	probably damaging	1.00
IGL01571:Hnf4g	APN	3	3,716,326 (GRCm39)	splice site	probably benign
IGL01896:Hnf4g	APN	3	3,716,470 (GRCm39)	missense	probably damaging	1.00
IGL02068:Hnf4g	APN	3	3,709,636 (GRCm39)	missense	probably benign
IGL03040:Hnf4g	APN	3	3,699,271 (GRCm39)	utr 5 prime	probably benign
IGL03097:Hnf4g	UTSW	3	3,716,674 (GRCm39)	missense	probably damaging	1.00
R0124:Hnf4g	UTSW	3	3,708,142 (GRCm39)	splice site	probably benign
R0477:Hnf4g	UTSW	3	3,716,851 (GRCm39)	splice site	probably benign
R0512:Hnf4g	UTSW	3	3,716,682 (GRCm39)	missense	probably damaging	1.00
R0744:Hnf4g	UTSW	3	3,716,689 (GRCm39)	missense	possibly damaging	0.92
R1323:Hnf4g	UTSW	3	3,699,281 (GRCm39)	missense	possibly damaging	0.73
R1323:Hnf4g	UTSW	3	3,699,281 (GRCm39)	missense	possibly damaging	0.73
R1656:Hnf4g	UTSW	3	3,718,011 (GRCm39)	missense	probably benign
R1982:Hnf4g	UTSW	3	3,703,268 (GRCm39)	missense	probably damaging	0.99
R2336:Hnf4g	UTSW	3	3,706,284 (GRCm39)	missense	probably benign	0.25
R3104:Hnf4g	UTSW	3	3,717,916 (GRCm39)	missense	probably benign	0.42
R3105:Hnf4g	UTSW	3	3,717,916 (GRCm39)	missense	probably benign	0.42
R3106:Hnf4g	UTSW	3	3,717,916 (GRCm39)	missense	probably benign	0.42
R3843:Hnf4g	UTSW	3	3,716,362 (GRCm39)	missense	probably benign	0.09
R4200:Hnf4g	UTSW	3	3,716,344 (GRCm39)	missense	possibly damaging	0.94
R4248:Hnf4g	UTSW	3	3,717,909 (GRCm39)	missense	possibly damaging	0.69
R4418:Hnf4g	UTSW	3	3,713,154 (GRCm39)	missense	possibly damaging	0.66
R4756:Hnf4g	UTSW	3	3,708,069 (GRCm39)	missense	possibly damaging	0.69
R4871:Hnf4g	UTSW	3	3,716,448 (GRCm39)	missense	possibly damaging	0.94
R5022:Hnf4g	UTSW	3	3,709,647 (GRCm39)	missense	probably damaging	0.99
R5023:Hnf4g	UTSW	3	3,709,647 (GRCm39)	missense	probably damaging	0.99
R5088:Hnf4g	UTSW	3	3,722,181 (GRCm39)	missense	probably benign	0.09
R5604:Hnf4g	UTSW	3	3,722,186 (GRCm39)	nonsense	probably null
R6746:Hnf4g	UTSW	3	3,722,170 (GRCm39)	nonsense	probably null
R7088:Hnf4g	UTSW	3	3,713,185 (GRCm39)	splice site	probably null
R7335:Hnf4g	UTSW	3	3,717,924 (GRCm39)	missense	possibly damaging	0.93
R8182:Hnf4g	UTSW	3	3,716,679 (GRCm39)	missense	possibly damaging	0.82
R8676:Hnf4g	UTSW	3	3,708,133 (GRCm39)	splice site	probably benign
R9008:Hnf4g	UTSW	3	3,708,096 (GRCm39)	missense	probably benign
R9153:Hnf4g	UTSW	3	3,573,378 (GRCm39)	start gained	probably benign
R9671:Hnf4g	UTSW	3	3,703,273 (GRCm39)	missense	probably benign	0.00
R9802:Hnf4g	UTSW	3	3,699,404 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGTTCCATGAAGCACTCCAAG -3'
(R):5'- GCTAATCCATCCTATCTGAGAGC -3'

Sequencing Primer
(F):5'- GTTCCATGAAGCACTCCAAGATTATC -3'
(R):5'- ATCCTATCTGAGAGCTCCATTTC -3'

Posted On

2020-06-30