Mutagenetix > Incidental Mutation

Incidental Mutation 'R1670:Hnf4a'

187524

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

039706-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1670 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

163348731-163414827 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 163404496 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 227 (S227P)

Ref Sequence

ENSEMBL: ENSMUSP00000105038 (fasta)

Gene Model

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

AlphaFold

P49698

Predicted Effect

probably damaging
Transcript: ENSMUST00000018094
AA Change: S236P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000018094
Gene: ENSMUSG00000017950
AA Change: S236P

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: S227P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000105038
Gene: ENSMUSG00000017950
AA Change: S227P

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

noncoding transcript
Transcript: ENSMUST00000131658

Predicted Effect

probably benign
Transcript: ENSMUST00000137449

SMART Domains

Protein: ENSMUSP00000123511
Gene: ENSMUSG00000017950

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

Meta Mutation Damage Score

0.9686

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.3%

Validation Efficiency

97% (74/76)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	A	G	6: 142,540,448 (GRCm39)	V1497A	possibly damaging	Het
Adam15	T	C	3: 89,255,817 (GRCm39)		probably benign	Het
Angel2	T	A	1: 190,674,360 (GRCm39)	S371T	probably benign	Het
Atr	T	A	9: 95,743,509 (GRCm39)	N49K	probably benign	Het
Bace2	G	A	16: 97,213,335 (GRCm39)	M228I	probably damaging	Het
Bdp1	A	C	13: 100,163,941 (GRCm39)		probably null	Het
Calr	A	T	8: 85,570,748 (GRCm39)	D302E	probably benign	Het
Camta1	T	C	4: 151,164,228 (GRCm39)	D340G	probably benign	Het
Car11	C	T	7: 45,352,949 (GRCm39)	T236I	possibly damaging	Het
Cfap69	A	T	5: 5,636,409 (GRCm39)	S275T	probably benign	Het
Cib2	G	A	9: 54,455,653 (GRCm39)	R104W	probably damaging	Het
CN725425	T	C	15: 91,130,018 (GRCm39)	S294P	possibly damaging	Het
Coro7	G	A	16: 4,446,097 (GRCm39)	S876F	possibly damaging	Het
Cspg4	G	A	9: 56,804,687 (GRCm39)	V1833M	probably damaging	Het
Dennd6b	C	A	15: 89,069,540 (GRCm39)		probably benign	Het
Dhx30	A	T	9: 109,914,341 (GRCm39)	Y979N	possibly damaging	Het
Dnaaf9	G	A	2: 130,554,299 (GRCm39)	P187S	probably damaging	Het
Dnah8	A	T	17: 30,944,098 (GRCm39)	I1772F	probably damaging	Het
Dync2h1	A	T	9: 6,993,942 (GRCm39)	I3976N	possibly damaging	Het
Ebi3	T	C	17: 56,261,479 (GRCm39)	I125T	probably damaging	Het
Elfn2	C	T	15: 78,556,568 (GRCm39)	A660T	probably benign	Het
F12	C	T	13: 55,569,346 (GRCm39)	C209Y	probably damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fgfr2	T	A	7: 129,782,187 (GRCm39)	D413V	probably damaging	Het
Gdf10	T	A	14: 33,654,000 (GRCm39)	I169N	possibly damaging	Het
Gdnf	T	C	15: 7,845,130 (GRCm39)	V41A	probably benign	Het
Gm9857	A	T	3: 108,847,478 (GRCm39)		probably benign	Het
Gpatch11	A	G	17: 79,146,529 (GRCm39)	E58G	possibly damaging	Het
Gpr55	A	G	1: 85,869,137 (GRCm39)	V148A	possibly damaging	Het
Gucy1b1	A	G	3: 81,952,767 (GRCm39)	I222T	probably benign	Het
Hsfy2	A	G	1: 56,675,548 (GRCm39)	S330P	possibly damaging	Het
Hycc1	T	A	5: 24,204,989 (GRCm39)	M1L	possibly damaging	Het
Ift122	T	C	6: 115,900,844 (GRCm39)	V1054A	probably benign	Het
Il27	T	A	7: 126,188,647 (GRCm39)	E175D	probably benign	Het
Lactb2	A	T	1: 13,730,641 (GRCm39)	S12T	probably damaging	Het
Lrfn2	T	C	17: 49,403,605 (GRCm39)	V576A	probably benign	Het
Mansc4	C	G	6: 146,976,689 (GRCm39)	R309T	possibly damaging	Het
Med12l	AACAGCA	AACAGCAACAGCA	3: 59,183,379 (GRCm39)		probably benign	Het
Mrpl16	C	T	19: 11,751,959 (GRCm39)	R240*	probably null	Het
Muc17	A	G	5: 137,172,843 (GRCm39)	V70A	probably benign	Het
Ndnf	A	G	6: 65,680,054 (GRCm39)	D111G	probably benign	Het
Nek4	T	C	14: 30,704,384 (GRCm39)	F688S	probably damaging	Het
Nkx2-6	T	A	14: 69,412,126 (GRCm39)	M98K	probably benign	Het
Nup188	T	C	2: 30,230,667 (GRCm39)	S1402P	probably benign	Het
Or10j2	T	A	1: 173,098,467 (GRCm39)	S242T	probably damaging	Het
Or2t48	A	T	11: 58,420,237 (GRCm39)	S192T	probably damaging	Het
Or4f14b	C	T	2: 111,775,264 (GRCm39)	C179Y	probably damaging	Het
Or52i2	A	G	7: 102,319,609 (GRCm39)	T161A	possibly damaging	Het
Or5ac23	A	T	16: 59,149,607 (GRCm39)	N88K	probably benign	Het
Or5ac24	T	C	16: 59,165,790 (GRCm39)	I91M	possibly damaging	Het
Or5m9b	T	A	2: 85,905,594 (GRCm39)	V170D	probably benign	Het
Parp10	A	T	15: 76,126,270 (GRCm39)	V306E	probably benign	Het
Pcnx3	A	G	19: 5,723,343 (GRCm39)	L1284P	probably damaging	Het
Pld1	A	T	3: 28,103,389 (GRCm39)	I365F	probably benign	Het
Pnisr	A	G	4: 21,865,893 (GRCm39)	D294G	probably damaging	Het
Pogz	C	T	3: 94,786,160 (GRCm39)	T863I	probably benign	Het
Ptprn2	A	C	12: 116,685,792 (GRCm39)	T84P	possibly damaging	Het
Rln1	C	T	19: 29,309,468 (GRCm39)	E104K	possibly damaging	Het
Rnf38	A	G	4: 44,138,681 (GRCm39)	S271P	probably damaging	Het
Rngtt	A	G	4: 33,368,660 (GRCm39)	T398A	probably benign	Het
Rprd2	G	T	3: 95,672,115 (GRCm39)	T1096K	probably damaging	Het
Sema3e	C	T	5: 14,212,199 (GRCm39)		probably benign	Het
Sema5a	T	A	15: 32,548,945 (GRCm39)	C140S	probably damaging	Het
Shpk	A	C	11: 73,113,757 (GRCm39)	D390A	probably benign	Het
Slc22a20	C	T	19: 6,022,876 (GRCm39)		probably benign	Het
Steap2	A	G	5: 5,727,393 (GRCm39)	V314A	possibly damaging	Het
Stxbp5l	A	G	16: 37,111,289 (GRCm39)		probably null	Het
Tgm3	G	T	2: 129,883,688 (GRCm39)	E449*	probably null	Het
Tmem68	A	C	4: 3,560,627 (GRCm39)	L186V	probably damaging	Het
Ttc41	T	A	10: 86,612,116 (GRCm39)	W1130R	possibly damaging	Het
Ttpal	T	C	2: 163,457,286 (GRCm39)	F253L	possibly damaging	Het
Vmn2r99	G	T	17: 19,582,514 (GRCm39)	V40F	probably benign	Het
Xkr9	G	A	1: 13,771,167 (GRCm39)	V228M	probably damaging	Het
Zc3h7b	C	T	15: 81,661,268 (GRCm39)	A369V	probably benign	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
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
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'- TTCACAGTTCCCTGAAGCTGGTGC -3'
(R):5'- ATGGTTTTGACCTGCCTGCCTG -3'

Sequencing Primer
(F):5'- CAAATAGGAGGTCCCCTACTTTGG -3'
(R):5'- GCCTGCCTGGTCCTAATGTG -3'

Posted On

2014-05-09