Incidental Mutation 'IGL01393:Hnf4a'
ID 79318
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 # IGL01393
Quality Score
Status
Chromosome 2
Chromosomal Location 163348731-163414827 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 163393492 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000119479 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018094] [ENSMUST00000109411] [ENSMUST00000137449] [ENSMUST00000143911]
AlphaFold P49698
Predicted Effect probably benign
Transcript: ENSMUST00000018094
SMART Domains Protein: ENSMUSP00000018094
Gene: ENSMUSG00000017950

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 benign
Transcript: ENSMUST00000109411
SMART Domains Protein: ENSMUSP00000105038
Gene: ENSMUSG00000017950

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131658
Predicted Effect probably benign
Transcript: ENSMUST00000137449
SMART Domains Protein: ENSMUSP00000123511
Gene: ENSMUSG00000017950

DomainStartEndE-ValueType
ZnF_C4 33 104 7.83e-38 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000143911
SMART Domains Protein: ENSMUSP00000119479
Gene: ENSMUSG00000017950

DomainStartEndE-ValueType
ZnF_C4 35 100 6.18e-27 SMART
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930474N05Rik G A 14: 35,818,379 (GRCm39) V126I possibly damaging Het
A630073D07Rik G T 6: 132,603,577 (GRCm39) Q60K unknown Het
Alpk2 A G 18: 65,440,779 (GRCm39) S205P possibly damaging Het
Ang4 T A 14: 52,001,670 (GRCm39) I93L probably benign Het
Arpin A G 7: 79,581,588 (GRCm39) V44A possibly damaging Het
Atxn3 A T 12: 101,899,306 (GRCm39) C263* probably null Het
Cd209f T C 8: 4,153,154 (GRCm39) N260S probably damaging Het
Cdh20 A G 1: 104,861,969 (GRCm39) R50G probably benign Het
Cracd T C 5: 77,006,818 (GRCm39) S1060P unknown Het
Csmd3 C T 15: 48,320,995 (GRCm39) V272I possibly damaging Het
Dst A T 1: 34,206,706 (GRCm39) Y1136F possibly damaging Het
Fam20c A G 5: 138,793,026 (GRCm39) Y420C probably damaging Het
Fancd2 T A 6: 113,554,321 (GRCm39) probably benign Het
Fat2 T C 11: 55,160,135 (GRCm39) D3326G probably benign Het
Filip1l A G 16: 57,392,586 (GRCm39) N820S probably damaging Het
Gm26566 G A 4: 88,640,581 (GRCm39) probably benign Het
Gm4792 A G 10: 94,134,304 (GRCm39) L22P unknown Het
Gpat2 A G 2: 127,274,571 (GRCm39) E386G probably damaging Het
Grm3 T C 5: 9,639,856 (GRCm39) D63G probably benign Het
Hdc A G 2: 126,436,581 (GRCm39) V430A probably benign Het
Il2ra A G 2: 11,687,865 (GRCm39) D215G probably damaging Het
Kctd3 T C 1: 188,732,487 (GRCm39) I74V probably benign Het
Kctd5 A T 17: 24,278,292 (GRCm39) probably null Het
Lrsam1 A T 2: 32,845,185 (GRCm39) probably benign Het
Mblac1 A G 5: 138,193,036 (GRCm39) N126S possibly damaging Het
Mmrn1 T A 6: 60,937,692 (GRCm39) probably benign Het
Mpp3 A T 11: 101,916,304 (GRCm39) L16Q probably damaging Het
Mrgprb1 C A 7: 48,097,754 (GRCm39) A53S possibly damaging Het
Nbea C A 3: 55,912,729 (GRCm39) M1019I probably benign Het
Nlrp5 A G 7: 23,103,599 (GRCm39) K22R probably null Het
Or1j4 G A 2: 36,740,553 (GRCm39) R165Q probably benign Het
Or2ag18 C T 7: 106,405,642 (GRCm39) G9E probably benign Het
Or4k48 A G 2: 111,475,601 (GRCm39) V247A probably damaging Het
Pard6b T A 2: 167,929,298 (GRCm39) S35T probably benign Het
Peli1 T C 11: 21,097,400 (GRCm39) V215A probably benign Het
Pkp4 A T 2: 59,178,269 (GRCm39) D1003V probably damaging Het
Pot1a G A 6: 25,744,630 (GRCm39) R625* probably null Het
Ppp1r16a T C 15: 76,578,744 (GRCm39) S483P probably benign Het
Prpf8 C A 11: 75,385,121 (GRCm39) A794D possibly damaging Het
Prrg3 T C X: 71,011,123 (GRCm39) V210A probably benign Het
Rev1 A G 1: 38,131,144 (GRCm39) V168A probably damaging Het
Sez6l G T 5: 112,586,261 (GRCm39) probably benign Het
Spag17 A G 3: 99,934,926 (GRCm39) T711A possibly damaging Het
Spice1 A G 16: 44,186,993 (GRCm39) I163M probably benign Het
Tex13c1 C T X: 42,680,233 (GRCm39) A66V probably damaging Het
Tmem132d A T 5: 127,861,702 (GRCm39) S806R probably benign Het
Tnc A G 4: 63,932,291 (GRCm39) probably benign Het
Tpbg T A 9: 85,726,145 (GRCm39) V38E unknown Het
Unc13c T A 9: 73,447,552 (GRCm39) I1883F probably benign Het
Vmn2r61 A C 7: 41,916,258 (GRCm39) Q290H probably benign Het
Vps39 A G 2: 120,180,719 (GRCm39) probably benign Het
Zfp369 T C 13: 65,442,288 (GRCm39) V294A possibly damaging Het
Zfp821 T A 8: 110,436,110 (GRCm39) probably benign Het
Zfp941 C T 7: 140,391,841 (GRCm39) G506E probably damaging Het
Other mutations in Hnf4a
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2013-11-05