Mutagenetix > Incidental Mutation

Incidental Mutation 'R0124:Hnf4g'

21206

Institutional Source

Beutler Lab

Gene Symbol

Hnf4g

Ensembl Gene

ENSMUSG00000017688

Gene Name

hepatocyte nuclear factor 4, gamma

Synonyms

NR2A2

MMRRC Submission

038409-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.195) question?

Stock #

R0124 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

3573090-3724863 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 3708142 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: 99.3%
3x: 98.3%
10x: 95.7%
20x: 89.8%

Validation Efficiency

100% (67/67)

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
1700003E16Rik	A	G	6: 83,138,656 (GRCm39)	T194A	probably benign	Het
Afap1	C	T	5: 36,102,553 (GRCm39)	P82S	probably damaging	Het
Ankrd28	A	G	14: 31,449,698 (GRCm39)	Y481H	probably damaging	Het
Arid1b	C	T	17: 5,389,605 (GRCm39)	T1717I	probably damaging	Het
Atad2b	A	G	12: 5,002,676 (GRCm39)	K348R	probably benign	Het
Bcl3	C	T	7: 19,543,576 (GRCm39)	V5M	probably damaging	Het
C2cd3	A	G	7: 100,118,725 (GRCm39)	E2321G	probably benign	Het
Casq1	C	T	1: 172,037,992 (GRCm39)	V380M	probably damaging	Het
Cd209e	T	A	8: 3,901,274 (GRCm39)	T127S	probably benign	Het
Cdh23	G	T	10: 60,143,835 (GRCm39)	Y2921*	probably null	Het
Cdh6	A	G	15: 13,034,410 (GRCm39)	L750P	probably damaging	Het
Cdk12	T	C	11: 98,102,073 (GRCm39)		probably benign	Het
Ces5a	T	C	8: 94,255,183 (GRCm39)	E170G	probably damaging	Het
Clec4f	A	G	6: 83,629,335 (GRCm39)		probably null	Het
Col19a1	T	C	1: 24,565,539 (GRCm39)	N264S	unknown	Het
Col2a1	T	A	15: 97,896,743 (GRCm39)	I43F	unknown	Het
Col4a2	A	G	8: 11,458,871 (GRCm39)		probably benign	Het
Csmd3	T	A	15: 47,454,112 (GRCm39)	D3578V	probably damaging	Het
Cyp2c37	T	C	19: 39,982,546 (GRCm39)	L128P	probably damaging	Het
Dennd2b	A	G	7: 109,141,718 (GRCm39)	S132P	possibly damaging	Het
Dysf	A	G	6: 84,042,084 (GRCm39)		probably benign	Het
Eml1	T	C	12: 108,472,867 (GRCm39)	V225A	probably benign	Het
Eml1	A	G	12: 108,475,437 (GRCm39)	Y256C	probably damaging	Het
Epb41l5	T	A	1: 119,561,370 (GRCm39)	K64*	probably null	Het
Fat2	A	G	11: 55,174,504 (GRCm39)	F2070L	probably damaging	Het
Fbxw18	G	T	9: 109,520,583 (GRCm39)	H259N	probably benign	Het
Gm10764	A	T	10: 87,126,610 (GRCm39)	T6S	unknown	Het
Gm14412	A	G	2: 177,007,705 (GRCm39)		probably benign	Het
Heatr5b	A	T	17: 79,133,646 (GRCm39)		probably benign	Het
Hid1	T	C	11: 115,247,649 (GRCm39)	T250A	probably damaging	Het
Ifnar1	C	T	16: 91,296,425 (GRCm39)	Q309*	probably null	Het
Lrriq1	C	T	10: 103,006,281 (GRCm39)		probably null	Het
Map3k13	A	G	16: 21,722,506 (GRCm39)	T223A	possibly damaging	Het
Matn2	C	T	15: 34,426,297 (GRCm39)		probably benign	Het
Myo6	A	G	9: 80,215,056 (GRCm39)	E1253G	probably damaging	Het
Nomo1	G	T	7: 45,732,652 (GRCm39)		probably benign	Het
Or1ak2	A	T	2: 36,827,268 (GRCm39)	I46F	possibly damaging	Het
Or4c116	A	T	2: 88,942,088 (GRCm39)	I256K	possibly damaging	Het
Or8a1b	A	G	9: 37,622,759 (GRCm39)	V272A	possibly damaging	Het
Papolg	C	T	11: 23,817,535 (GRCm39)	A582T	probably benign	Het
Plekhm3	C	T	1: 64,960,910 (GRCm39)	E449K	probably damaging	Het
Pole	T	G	5: 110,451,858 (GRCm39)	M900R	probably damaging	Het
Ppp1cb	T	A	5: 32,640,822 (GRCm39)		probably benign	Het
Pramel17	A	G	4: 101,692,570 (GRCm39)	*477Q	probably null	Het
Pros1	A	G	16: 62,734,309 (GRCm39)	T372A	possibly damaging	Het
Scara3	A	T	14: 66,168,670 (GRCm39)	S316T	probably benign	Het
Stau2	C	T	1: 16,533,352 (GRCm39)	A61T	probably damaging	Het
Stx3	T	C	19: 11,769,163 (GRCm39)	E54G	possibly damaging	Het
Sun1	T	C	5: 139,232,434 (GRCm39)		probably benign	Het
Swt1	A	T	1: 151,267,280 (GRCm39)	C634S	probably damaging	Het
Syt6	A	G	3: 103,494,842 (GRCm39)	Y269C	probably damaging	Het
Tfap2a	G	A	13: 40,870,887 (GRCm39)		probably benign	Het
Tmx4	A	T	2: 134,481,640 (GRCm39)		probably null	Het
Ttc39d	T	C	17: 80,524,375 (GRCm39)	C345R	probably damaging	Het
Vmn1r27	T	C	6: 58,192,233 (GRCm39)	Y257C	probably damaging	Het
Vmn2r27	T	A	6: 124,208,578 (GRCm39)	T56S	probably benign	Het
Vps13b	T	C	15: 35,576,674 (GRCm39)		probably null	Het
Wdr17	A	G	8: 55,088,526 (GRCm39)	S1175P	probably damaging	Het
Wsb2	T	C	5: 117,501,823 (GRCm39)	F63L	probably benign	Het
Zfp142	A	G	1: 74,607,782 (GRCm39)	Y1561H	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
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
R8153:Hnf4g	UTSW	3	3,699,250 (GRCm39)	start gained	probably benign
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'- CATTTGTCTCATCACAAAGTCCAAGCC -3'
(R):5'- GCTCACCAAAGCATCTGTTCTCTAAGG -3'

Sequencing Primer
(F):5'- GCTCTGGAAACAAGCTTAGC -3'
(R):5'- GCAATGAAACAGAACAACATGCTATG -3'

Posted On

2013-04-11