Mutagenetix > Incidental Mutation

Incidental Mutation 'R8676:Hnf4g'

673238

Institutional Source

Beutler Lab

Gene Symbol

Hnf4g

Ensembl Gene

ENSMUSG00000017688

Gene Name

hepatocyte nuclear factor 4, gamma

Synonyms

NR2A2

MMRRC Submission

068531-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.267) question?

Stock #

R8676 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

3508030-3658052 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 3643073 bp (GRCm38)

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

93% (54/58)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610037L13Rik	A	G	4: 107,895,599 (GRCm38)	N152D	unknown	Het
1700021F05Rik	A	G	10: 43,532,937 (GRCm38)	L70S	probably benign	Het
Acsm3	T	A	7: 119,775,169 (GRCm38)	S281R	probably damaging	Het
Adipor2	G	T	6: 119,363,486 (GRCm38)		probably benign	Het
Alk	T	C	17: 71,897,941 (GRCm38)	S1079G	probably damaging	Het
Ankrd27	T	C	7: 35,602,584 (GRCm38)		probably null	Het
Anxa6	C	A	11: 55,001,282 (GRCm38)	E283*	probably null	Het
Bnc2	T	C	4: 84,276,313 (GRCm38)	H858R	possibly damaging	Het
Btnl6	T	C	17: 34,508,069 (GRCm38)	S496G	probably benign	Het
Ccdc88a	T	C	11: 29,460,860 (GRCm38)	S449P	probably benign	Het
Cdh23	A	T	10: 60,410,910 (GRCm38)	D916E	probably damaging	Het
Cfap43	A	T	19: 47,748,017 (GRCm38)	L1345H	possibly damaging	Het
Cyld	A	T	8: 88,729,510 (GRCm38)	H396L	probably benign	Het
Cyp20a1	A	G	1: 60,379,420 (GRCm38)	T340A	possibly damaging	Het
Dera	A	T	6: 137,830,204 (GRCm38)	I217F	probably damaging	Het
Dnah11	A	G	12: 118,190,804 (GRCm38)	L247P	probably damaging	Het
Eftud2	G	A	11: 102,868,621 (GRCm38)	T152M	probably damaging	Het
Epb41l2	C	T	10: 25,443,776 (GRCm38)	T169M	probably benign	Het
Fam186a	T	C	15: 99,947,142 (GRCm38)	D407G	unknown	Het
Fam189a2	T	C	19: 23,988,494 (GRCm38)	K214E	probably damaging	Het
Gli3	T	A	13: 15,715,034 (GRCm38)	C578S	probably damaging	Het
Gm436	G	A	4: 144,670,113 (GRCm38)	R350C	possibly damaging	Het
Gm6408	A	G	5: 146,482,427 (GRCm38)	N84S	probably benign	Het
Heatr5a	AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGTGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA	AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA	12: 51,887,919 (GRCm38)		probably benign	Het
Herc2	C	A	7: 56,188,613 (GRCm38)	T3296K	probably damaging	Het
Hyal4	C	A	6: 24,755,827 (GRCm38)	Q15K	probably damaging	Het
Itpr3	G	A	17: 27,118,677 (GRCm38)		probably benign	Het
Kcna3	A	G	3: 107,036,592 (GRCm38)	E57G	probably damaging	Het
Kcnc3	C	A	7: 44,591,596 (GRCm38)	D237E	probably benign	Het
Map3k8	A	G	18: 4,343,137 (GRCm38)	V130A	probably benign	Het
Mpp7	A	G	18: 7,440,430 (GRCm38)		probably null	Het
Myh13	T	A	11: 67,342,485 (GRCm38)	L610Q	probably damaging	Het
Olfr1020	T	A	2: 85,849,902 (GRCm38)	M150K	probably benign	Het
Olfr1339	C	A	4: 118,735,038 (GRCm38)	P170T	probably damaging	Het
Olfr917	T	C	9: 38,665,768 (GRCm38)	I25M	probably benign	Het
Pcdhb5	A	T	18: 37,321,076 (GRCm38)	T170S	probably benign	Het
Polr3b	T	A	10: 84,680,387 (GRCm38)	H626Q	probably benign	Het
Prkg1	A	T	19: 31,764,746 (GRCm38)	L26Q	probably damaging	Het
Prob1	T	C	18: 35,653,986 (GRCm38)	N405S	possibly damaging	Het
Proz	T	G	8: 13,073,630 (GRCm38)	S300R	probably damaging	Het
Psg19	A	G	7: 18,794,065 (GRCm38)	I251T	probably benign	Het
Rcbtb1	T	C	14: 59,229,952 (GRCm38)	I413T	possibly damaging	Het
Rnf144b	T	A	13: 47,228,976 (GRCm38)	Y103N	probably damaging	Het
Rspry1	G	C	8: 94,632,119 (GRCm38)	G194R	probably benign	Het
Scn2b	A	G	9: 45,125,619 (GRCm38)	I142V	probably damaging	Het
Spata20	A	T	11: 94,481,781 (GRCm38)	L588H	probably damaging	Het
Stk32b	T	A	5: 37,457,159 (GRCm38)	H335L	probably benign	Het
Taar4	A	C	10: 23,960,903 (GRCm38)	D137A	possibly damaging	Het
Tchh	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	3: 93,446,708 (GRCm38)		probably benign	Het
Tek	A	T	4: 94,849,837 (GRCm38)	H708L	probably benign	Het
Tmem89	C	T	9: 108,915,027 (GRCm38)	L132F	unknown	Het
Ugt2b38	T	C	5: 87,411,822 (GRCm38)	I404V	probably benign	Het
Vmn1r16	C	T	6: 57,322,829 (GRCm38)	M269I	probably benign	Het
Vmn1r201	A	G	13: 22,475,252 (GRCm38)	K212R	probably damaging	Het
Vmn2r11	A	C	5: 109,053,760 (GRCm38)	F293V	probably damaging	Het
Zdhhc17	A	T	10: 110,962,379 (GRCm38)		probably benign	Het
Zfp423	C	A	8: 87,782,710 (GRCm38)	M335I	probably benign	Het
Zfp74	T	C	7: 29,934,654 (GRCm38)	Y543C	probably damaging	Het
Zfp975	A	T	7: 42,662,840 (GRCm38)	S116R	probably benign	Het

Other mutations in Hnf4g

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Hnf4g	APN	3	3,648,082 (GRCm38)	missense	probably benign
IGL00832:Hnf4g	APN	3	3,641,276 (GRCm38)	missense	probably damaging	1.00
IGL01571:Hnf4g	APN	3	3,651,266 (GRCm38)	splice site	probably benign
IGL01896:Hnf4g	APN	3	3,651,410 (GRCm38)	missense	probably damaging	1.00
IGL02068:Hnf4g	APN	3	3,644,576 (GRCm38)	missense	probably benign
IGL03040:Hnf4g	APN	3	3,634,211 (GRCm38)	utr 5 prime	probably benign
IGL03097:Hnf4g	UTSW	3	3,651,614 (GRCm38)	missense	probably damaging	1.00
R0124:Hnf4g	UTSW	3	3,643,082 (GRCm38)	splice site	probably benign
R0477:Hnf4g	UTSW	3	3,651,791 (GRCm38)	splice site	probably benign
R0512:Hnf4g	UTSW	3	3,651,622 (GRCm38)	missense	probably damaging	1.00
R0744:Hnf4g	UTSW	3	3,651,629 (GRCm38)	missense	possibly damaging	0.92
R1323:Hnf4g	UTSW	3	3,634,221 (GRCm38)	missense	possibly damaging	0.73
R1323:Hnf4g	UTSW	3	3,634,221 (GRCm38)	missense	possibly damaging	0.73
R1656:Hnf4g	UTSW	3	3,652,951 (GRCm38)	missense	probably benign
R1982:Hnf4g	UTSW	3	3,638,208 (GRCm38)	missense	probably damaging	0.99
R2336:Hnf4g	UTSW	3	3,641,224 (GRCm38)	missense	probably benign	0.25
R3104:Hnf4g	UTSW	3	3,652,856 (GRCm38)	missense	probably benign	0.42
R3105:Hnf4g	UTSW	3	3,652,856 (GRCm38)	missense	probably benign	0.42
R3106:Hnf4g	UTSW	3	3,652,856 (GRCm38)	missense	probably benign	0.42
R3843:Hnf4g	UTSW	3	3,651,302 (GRCm38)	missense	probably benign	0.09
R4200:Hnf4g	UTSW	3	3,651,284 (GRCm38)	missense	possibly damaging	0.94
R4248:Hnf4g	UTSW	3	3,652,849 (GRCm38)	missense	possibly damaging	0.69
R4418:Hnf4g	UTSW	3	3,648,094 (GRCm38)	missense	possibly damaging	0.66
R4756:Hnf4g	UTSW	3	3,643,009 (GRCm38)	missense	possibly damaging	0.69
R4871:Hnf4g	UTSW	3	3,651,388 (GRCm38)	missense	possibly damaging	0.94
R5022:Hnf4g	UTSW	3	3,644,587 (GRCm38)	missense	probably damaging	0.99
R5023:Hnf4g	UTSW	3	3,644,587 (GRCm38)	missense	probably damaging	0.99
R5088:Hnf4g	UTSW	3	3,657,121 (GRCm38)	missense	probably benign	0.09
R5604:Hnf4g	UTSW	3	3,657,126 (GRCm38)	nonsense	probably null
R6746:Hnf4g	UTSW	3	3,657,110 (GRCm38)	nonsense	probably null
R7088:Hnf4g	UTSW	3	3,648,125 (GRCm38)	splice site	probably null
R7335:Hnf4g	UTSW	3	3,652,864 (GRCm38)	missense	possibly damaging	0.93
R8153:Hnf4g	UTSW	3	3,634,190 (GRCm38)	start gained	probably benign
R8182:Hnf4g	UTSW	3	3,651,619 (GRCm38)	missense	possibly damaging	0.82
R9008:Hnf4g	UTSW	3	3,643,036 (GRCm38)	missense	probably benign
R9153:Hnf4g	UTSW	3	3,508,318 (GRCm38)	start gained	probably benign
R9671:Hnf4g	UTSW	3	3,638,213 (GRCm38)	missense	probably benign	0.00
R9802:Hnf4g	UTSW	3	3,634,344 (GRCm38)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ATGGATTTCAAAGTGGTTCAAGAGG -3'
(R):5'- TTTCCCTCAGTATTGGAGCAGATG -3'

Sequencing Primer
(F):5'- TTTGAAAGACTCTATCTGAACATCTG -3'
(R):5'- TTGCAATGAAACAGAACAACATG -3'

Posted On

2021-06-16