Incidental Mutation 'R6382:Hnf4a'
ID 515355
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 044531-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6382 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 163348731-163414827 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 163410926 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 408 (M408L)
Ref Sequence ENSEMBL: ENSMUSP00000105038 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018094] [ENSMUST00000109411]
AlphaFold P49698
Predicted Effect probably benign
Transcript: ENSMUST00000018094
AA Change: M417L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000018094
Gene: ENSMUSG00000017950
AA Change: M417L

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
AA Change: M408L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000105038
Gene: ENSMUSG00000017950
AA Change: M408L

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
Meta Mutation Damage Score 0.0587 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.5%
Validation Efficiency 100% (55/55)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abat T A 16: 8,418,850 (GRCm39) M148K probably benign Het
Aldoc T C 11: 78,216,568 (GRCm39) I242T probably benign Het
Camta2 T C 11: 70,562,867 (GRCm39) T927A probably damaging Het
Ccdc30 T C 4: 119,261,363 (GRCm39) R25G possibly damaging Het
Cdh16 T A 8: 105,348,175 (GRCm39) M181L possibly damaging Het
Clstn1 A T 4: 149,710,577 (GRCm39) probably null Het
Cnot6l C A 5: 96,276,858 (GRCm39) R110L probably damaging Het
Col7a1 G A 9: 108,804,461 (GRCm39) S2264N unknown Het
Cspp1 A G 1: 10,153,700 (GRCm39) probably null Het
Cul1 T A 6: 47,479,373 (GRCm39) L213Q probably damaging Het
Cuta T C 17: 27,157,428 (GRCm39) Q124R probably benign Het
Cyp1a1 T A 9: 57,607,973 (GRCm39) N200K probably damaging Het
Dag1 C A 9: 108,085,336 (GRCm39) A602S possibly damaging Het
Ftdc1 T C 16: 58,434,273 (GRCm39) E148G possibly damaging Het
Gm4707 G A 17: 71,766,238 (GRCm39) probably benign Het
Gpat2 G C 2: 127,273,838 (GRCm39) G294R possibly damaging Het
H2-T23 T C 17: 36,342,724 (GRCm39) Y138C probably damaging Het
Hpse2 A G 19: 43,376,641 (GRCm39) L37P possibly damaging Het
Hsd17b6 A T 10: 127,827,196 (GRCm39) I292N probably damaging Het
Hsp90aa1 A T 12: 110,661,951 (GRCm39) probably null Het
Ifit1bl1 T A 19: 34,572,283 (GRCm39) Y58F probably benign Het
Igkv10-95 A G 6: 68,657,672 (GRCm39) T43A probably benign Het
Igkv6-17 C T 6: 70,348,814 (GRCm39) Q62* probably null Het
Jakmip2 A G 18: 43,704,244 (GRCm39) S367P possibly damaging Het
Lrrc40 A G 3: 157,764,333 (GRCm39) D416G probably damaging Het
Mdm2 A G 10: 117,528,626 (GRCm39) V177A probably benign Het
Mpp1 TGAGACGAACTCTCCGAG TGAG X: 74,169,375 (GRCm39) probably null Het
Myo1b C T 1: 51,813,466 (GRCm39) probably null Het
Notch2 A G 3: 98,048,859 (GRCm39) D1799G probably damaging Het
Obscn C T 11: 58,890,239 (GRCm39) G7431D unknown Het
Obscn A T 11: 58,933,034 (GRCm39) C4781S probably damaging Het
Or2a14 T A 6: 43,130,899 (GRCm39) I220N probably damaging Het
Or7a35 C A 10: 78,853,351 (GRCm39) S65Y probably damaging Het
Pard3 T A 8: 128,103,264 (GRCm39) V411D probably damaging Het
Pfkl T C 10: 77,835,671 (GRCm39) R246G probably damaging Het
Pgs1 T C 11: 117,894,186 (GRCm39) Y238H probably damaging Het
Pik3c2g A G 6: 139,665,724 (GRCm39) E15G possibly damaging Het
Pja2 A G 17: 64,616,610 (GRCm39) V95A probably benign Het
Ripor2 T C 13: 24,861,828 (GRCm39) I207T possibly damaging Het
Rps15 A G 10: 80,129,820 (GRCm39) Y115C probably damaging Het
Shkbp1 C A 7: 27,051,484 (GRCm39) E192* probably null Het
Slc23a4 T A 6: 34,933,978 (GRCm39) M42L probably benign Het
Snx25 T A 8: 46,509,028 (GRCm39) S373C probably benign Het
Sppl2a A T 2: 126,758,949 (GRCm39) probably null Het
Tektl1 G A 10: 78,588,675 (GRCm39) T45I possibly damaging Het
Tpcn2 A G 7: 144,823,486 (GRCm39) S256P possibly damaging Het
Txk C T 5: 72,893,823 (GRCm39) probably benign Het
Ubr2 C G 17: 47,268,241 (GRCm39) W991S possibly damaging Het
Ufc1 A G 1: 171,122,248 (GRCm39) W28R probably damaging Het
Unc93b1 C A 19: 3,985,297 (GRCm39) A35E probably benign Het
Ush2a A G 1: 188,546,499 (GRCm39) N3425S probably benign Het
Vmn1r32 A G 6: 66,530,345 (GRCm39) Y144H probably benign Het
Vmn1r76 A G 7: 11,664,426 (GRCm39) F228L probably damaging Het
Zfc3h1 A G 10: 115,243,813 (GRCm39) N715D probably benign Het
Zfp933 T C 4: 147,910,325 (GRCm39) S424G probably benign 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
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
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'- AAGACTGTGGTCCTCCTTCC -3'
(R):5'- CGTCAATCACCTCACTGGAG -3'

Sequencing Primer
(F):5'- TCCAGACTTCCAATCCTGACTAATG -3'
(R):5'- TCACCTCACTGGAGACACAG -3'
Posted On 2018-05-04