Mutagenetix > Incidental Mutation

Incidental Mutation 'R7016:Hnf4a'

545293

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

045117-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7016 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

163348731-163414827 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 163406193 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 277 (Y277N)

Ref Sequence

ENSEMBL: ENSMUSP00000105038 (fasta)

Gene Model

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

AlphaFold

P49698

Predicted Effect

probably damaging
Transcript: ENSMUST00000018094
AA Change: Y286N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000018094
Gene: ENSMUSG00000017950
AA Change: Y286N

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 damaging
Transcript: ENSMUST00000109411
AA Change: Y277N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000105038
Gene: ENSMUSG00000017950
AA Change: Y277N

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: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

98% (63/64)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	T	A	5: 8,986,843 (GRCm39)	V754D	probably benign	Het
Actn1	T	A	12: 80,219,742 (GRCm39)	M710L	possibly damaging	Het
Adam1a	A	G	5: 121,659,101 (GRCm39)	F64S	probably benign	Het
Aip	G	T	19: 4,171,402 (GRCm39)	D11E	probably benign	Het
Ak7	T	A	12: 105,747,938 (GRCm39)	Y714*	probably null	Het
Amhr2	A	G	15: 102,362,799 (GRCm39)	E522G	possibly damaging	Het
Amotl1	A	G	9: 14,504,995 (GRCm39)	L108P	probably damaging	Het
Arhgef17	A	G	7: 100,528,184 (GRCm39)	S677P	probably benign	Het
Asph	T	C	4: 9,630,604 (GRCm39)		probably null	Het
Atp11b	T	C	3: 35,895,185 (GRCm39)	S908P	probably benign	Het
Atp13a3	C	A	16: 30,157,308 (GRCm39)	V903L	possibly damaging	Het
Bcam	G	A	7: 19,492,368 (GRCm39)	R576*	probably null	Het
Btbd2	A	G	10: 80,484,449 (GRCm39)	S141P	probably damaging	Het
Cacna1b	T	C	2: 24,652,860 (GRCm39)	N67S	possibly damaging	Het
Cc2d2b	A	G	19: 40,784,248 (GRCm39)	T872A	possibly damaging	Het
Ccdc24	T	A	4: 117,728,313 (GRCm39)	I144F	probably null	Het
Cep44	A	T	8: 56,997,234 (GRCm39)	F101L	possibly damaging	Het
Cfap410	T	A	10: 77,818,790 (GRCm39)	C154S	probably benign	Het
Cimap1d	T	C	10: 79,475,790 (GRCm39)	Y258C	probably damaging	Het
Disp1	C	A	1: 182,869,030 (GRCm39)	R1130L	probably damaging	Het
Dnajc21	G	T	15: 10,461,493 (GRCm39)	Y152*	probably null	Het
Edem2	A	G	2: 155,557,992 (GRCm39)	F214L	possibly damaging	Het
Fam118b	G	A	9: 35,135,014 (GRCm39)	R198W	probably damaging	Het
Fgb	A	G	3: 82,953,371 (GRCm39)	V133A	probably benign	Het
Fsip2	A	G	2: 82,820,979 (GRCm39)	T5571A	probably benign	Het
Gm40460	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,554 (GRCm39)		probably benign	Het
Hjurp	CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT	C	1: 88,193,999 (GRCm39)		probably benign	Het
Hjurp	TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTGCT	TCT	1: 88,194,000 (GRCm39)		probably benign	Het
Htatip2	A	G	7: 49,420,583 (GRCm39)	D143G	possibly damaging	Het
Itgae	A	G	11: 73,010,342 (GRCm39)	N611D	probably damaging	Het
Ksr1	A	T	11: 78,918,362 (GRCm39)	N515K	probably damaging	Het
Lrp1	C	A	10: 127,395,836 (GRCm39)		probably null	Het
Map3k20	T	A	2: 72,208,979 (GRCm39)	V195D	probably damaging	Het
Meox2	A	G	12: 37,159,223 (GRCm39)	S132G	probably benign	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Nell2	T	A	15: 95,127,032 (GRCm39)	N781I	possibly damaging	Het
Or12d16-ps1	G	A	17: 37,706,094 (GRCm39)	G221D	possibly damaging	Het
Or13a22	A	G	7: 140,073,153 (GRCm39)	T201A	probably benign	Het
Or51m1	A	G	7: 103,578,737 (GRCm39)	I236V	probably benign	Het
Or5e1	A	G	7: 108,354,918 (GRCm39)	N285S	probably damaging	Het
Otoa	A	T	7: 120,746,989 (GRCm39)	Q918L	probably damaging	Het
Palld	T	G	8: 61,969,032 (GRCm39)	K1022T	probably damaging	Het
Parp8	A	T	13: 117,031,627 (GRCm39)	S362T	probably damaging	Het
Phrf1	A	G	7: 140,817,476 (GRCm39)	E95G	probably damaging	Het
Pls1	A	T	9: 95,668,994 (GRCm39)	F76I	probably damaging	Het
Pnp	T	A	14: 51,187,706 (GRCm39)		probably null	Het
Ptdss1	A	C	13: 67,120,685 (GRCm39)	M294L	probably benign	Het
Rictor	T	A	15: 6,804,361 (GRCm39)		probably null	Het
Rilp	A	G	11: 75,401,745 (GRCm39)	E175G	probably damaging	Het
Serpina16	T	A	12: 103,641,630 (GRCm39)	T32S	probably benign	Het
Sim1	C	T	10: 50,860,346 (GRCm39)	S736L	probably benign	Het
Smarcc2	T	G	10: 128,321,198 (GRCm39)		probably null	Het
Smtn	A	G	11: 3,480,368 (GRCm39)		probably null	Het
Sspo	T	A	6: 48,426,098 (GRCm39)	W98R	probably damaging	Het
St8sia3	A	T	18: 64,402,654 (GRCm39)	I98F	probably benign	Het
Taf10	A	T	7: 105,393,205 (GRCm39)		probably null	Het
Tasor2	A	T	13: 3,626,857 (GRCm39)	V1031E	possibly damaging	Het
Tbc1d4	T	A	14: 101,724,877 (GRCm39)	N580I	probably damaging	Het
Trim12c	A	T	7: 103,997,413 (GRCm39)	C48S		Het
Tsc22d1	C	A	14: 76,654,982 (GRCm39)	T405K	probably damaging	Het
Tubgcp5	A	G	7: 55,443,977 (GRCm39)	D2G	possibly damaging	Het
Wwc2	T	C	8: 48,300,583 (GRCm39)	E960G	unknown	Het
Yme1l1	T	A	2: 23,076,367 (GRCm39)		probably null	Het
Zbtb2	G	C	10: 4,318,646 (GRCm39)	P460R	probably damaging	Het
Zfp62	T	G	11: 49,106,764 (GRCm39)	I285S	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
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
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'- AATTGCAAACCATAACCAGGGG -3'
(R):5'- GCTGTTCTGAGAAGTCCTTCC -3'

Sequencing Primer
(F):5'- TTGCAAACCATAACCAGGGGGATAG -3'
(R):5'- TGAGAAGTCCTTCCTCCCTGGG -3'

Posted On

2019-05-13