Incidental Mutation 'IGL02419:Hnf4a'
ID 292588
Institutional Source Australian Phenomics Network (link to record)
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
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02419
Quality Score
Status
Chromosome 2
Chromosomal Location 163348731-163414827 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 163408202 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 352 (I352F)
Ref Sequence ENSEMBL: ENSMUSP00000018094 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018094] [ENSMUST00000109411]
AlphaFold P49698
Predicted Effect probably damaging
Transcript: ENSMUST00000018094
AA Change: I352F

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000018094
Gene: ENSMUSG00000017950
AA Change: I352F

DomainStartEndE-ValueType
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: I343F

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000105038
Gene: ENSMUSG00000017950
AA Change: I343F

DomainStartEndE-ValueType
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
Validation Efficiency
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402J07Rik T C 8: 88,312,727 (GRCm39) F171L possibly damaging Het
Abca2 A G 2: 25,336,849 (GRCm39) N2291D probably benign Het
Adamts9 A G 6: 92,773,978 (GRCm39) V1145A probably benign Het
Adcy2 A G 13: 69,130,482 (GRCm39) V135A probably benign Het
Akr1c14 A T 13: 4,130,617 (GRCm39) probably null Het
Aptx G T 4: 40,691,032 (GRCm39) A229E probably benign Het
Ash1l T C 3: 88,892,872 (GRCm39) S1584P probably benign Het
Catsper3 A T 13: 55,955,881 (GRCm39) T329S possibly damaging Het
Cntrl A G 2: 35,024,055 (GRCm39) D27G probably damaging Het
Cobll1 A T 2: 64,981,392 (GRCm39) I98K probably damaging Het
Ctdp1 T C 18: 80,463,799 (GRCm39) K79R probably damaging Het
Cwf19l2 T C 9: 3,418,777 (GRCm39) probably null Het
Cyp11b2 A T 15: 74,722,904 (GRCm39) F498Y probably damaging Het
Dnpep A G 1: 75,292,332 (GRCm39) I162T probably damaging Het
Efcab9 T C 11: 32,472,950 (GRCm39) I166V probably benign Het
Ep400 A T 5: 110,845,242 (GRCm39) probably null Het
Gata6 G A 18: 11,054,220 (GRCm39) G50R probably damaging Het
Gm9631 G A 11: 121,834,478 (GRCm39) Het
Grifin T C 5: 140,550,455 (GRCm39) T20A probably benign Het
Ifi204 T C 1: 173,576,946 (GRCm39) T552A possibly damaging Het
Ifi205 C T 1: 173,845,180 (GRCm39) A201T probably damaging Het
Kcnk6 A G 7: 28,924,627 (GRCm39) V259A probably benign Het
Kif21b A G 1: 136,079,005 (GRCm39) N451S probably benign Het
Klhl24 T A 16: 19,926,118 (GRCm39) Y215* probably null Het
Lyst G A 13: 13,835,541 (GRCm39) C1741Y probably benign Het
Mical1 A G 10: 41,358,273 (GRCm39) K429E possibly damaging Het
Misp A G 10: 79,663,705 (GRCm39) probably benign Het
Mon2 T C 10: 122,852,352 (GRCm39) N1007S probably benign Het
Or10v1 A T 19: 11,874,186 (GRCm39) Y267F probably benign Het
Or14a260 C A 7: 85,984,870 (GRCm39) V245F probably damaging Het
Or51v8 A T 7: 103,319,682 (GRCm39) C185* probably null Het
Or8k41 T A 2: 86,313,259 (GRCm39) I276F probably damaging Het
Pex6 C A 17: 47,035,361 (GRCm39) T840N possibly damaging Het
Prox1 C T 1: 189,893,327 (GRCm39) A373T probably benign Het
Rapgef3 G T 15: 97,648,171 (GRCm39) N679K probably benign Het
Serpina3n T C 12: 104,379,777 (GRCm39) V390A possibly damaging Het
Sirpb1a A G 3: 15,491,398 (GRCm39) F23S probably benign Het
Slc44a3 T C 3: 121,283,906 (GRCm39) T449A probably benign Het
Smad6 G A 9: 63,860,800 (GRCm39) probably benign Het
Sos2 C T 12: 69,663,764 (GRCm39) M573I probably benign Het
St8sia1 A T 6: 142,774,661 (GRCm39) I306N probably damaging Het
Tnks1bp1 T C 2: 84,902,125 (GRCm39) S1674P possibly damaging Het
Trim47 G A 11: 115,997,027 (GRCm39) R576W probably damaging Het
Wdr86 A T 5: 24,927,702 (GRCm39) I79N probably damaging Het
Wwp2 T A 8: 108,276,447 (GRCm39) V473D probably damaging Het
Zc3h12a T C 4: 125,013,581 (GRCm39) T428A probably benign Het
Zfp592 A G 7: 80,687,993 (GRCm39) E973G probably damaging Het
Other mutations in Hnf4a
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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
Posted On 2015-04-16