Incidental Mutation 'R7134:Hnf1a'
ID 552903
Institutional Source Beutler Lab
Gene Symbol Hnf1a
Ensembl Gene ENSMUSG00000029556
Gene Name HNF1 homeobox A
Synonyms hepatocyte nuclear factor 1, Tcf1, HNF1, HNF1[a], Hnf-1, HNF1-alpha, LFB1, Hnf1alpha
MMRRC Submission 045219-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.865) question?
Stock # R7134 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 115087039-115109121 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 115091446 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Arginine at position 416 (G416R)
Ref Sequence ENSEMBL: ENSMUSP00000031535 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031535] [ENSMUST00000031538] [ENSMUST00000176550] [ENSMUST00000176911]
AlphaFold P22361
PDB Structure CRYSTAL STRUCTURE OF A COMPLEX BETWEEN THE DIMERIZATION DOMAIN OF HNF-1 ALPHA AND THE COACTIVATOR DCOH [X-RAY DIFFRACTION]
HNF-1ALPHA DIMERIZATION DOMAIN, WITH SELENOMETHIONINE SUBSTITUED AT LEU 12 [X-RAY DIFFRACTION]
DIMERIZATION DOMAIN OF HNF-1ALPHA WITH A LEU 13 SELENOMETHIONINE SUBSTITUTION [X-RAY DIFFRACTION]
WILD-TYPE HNF-1ALPHA DIMERIZATION DOMAIN [X-RAY DIFFRACTION]
Crystal Structure of Dimerization Domain (1-33) of HNF-1alpha [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000031535
AA Change: G416R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031535
Gene: ENSMUSG00000029556
AA Change: G416R

DomainStartEndE-ValueType
Pfam:HNF-1_N 8 168 4e-57 PFAM
HOX 199 282 1.85e-7 SMART
low complexity region 288 297 N/A INTRINSIC
Blast:HOX 394 439 7e-20 BLAST
Pfam:HNF-1A_C 540 627 3.4e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000031538
SMART Domains Protein: ENSMUSP00000031538
Gene: ENSMUSG00000029559

DomainStartEndE-ValueType
low complexity region 5 19 N/A INTRINSIC
low complexity region 40 52 N/A INTRINSIC
low complexity region 150 158 N/A INTRINSIC
low complexity region 182 206 N/A INTRINSIC
low complexity region 229 237 N/A INTRINSIC
low complexity region 240 255 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000176550
SMART Domains Protein: ENSMUSP00000135678
Gene: ENSMUSG00000029556

DomainStartEndE-ValueType
Pfam:HNF-1_N 1 176 4e-86 PFAM
Blast:HOX 199 238 2e-20 BLAST
SCOP:d1lfb__ 203 238 2e-18 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000176911
SMART Domains Protein: ENSMUSP00000135539
Gene: ENSMUSG00000029556

DomainStartEndE-ValueType
Pfam:HNF-1_N 1 118 6.4e-32 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 99% (84/85)
MGI Phenotype FUNCTION: This gene encodes a hepatic transcription factor. The encoded protein is not a member of the T-cell factor family, and is distinct from T-cell specific transcription factor 7 which has also been referred to by the symbol Tcf1. [provided by RefSeq, Jul 2008]
PHENOTYPE: Most homozygous null mutants die at 3-6 weeks from progressive wasting syndrome, liver and renal dysfunction and type II diabetes. Mutants have little or no phenylalanine hydroxylase, albumin, alpha 1-antitrypsin and secreted insulin. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf1 A G 17: 36,270,144 (GRCm39) F638S possibly damaging Het
Actl6b T A 5: 137,562,762 (GRCm39) N159K probably damaging Het
Adam6a T G 12: 113,508,655 (GRCm39) S343A probably benign Het
Ankrd17 G A 5: 90,380,173 (GRCm39) T2505I probably damaging Het
Ankrd17 T C 5: 90,433,382 (GRCm39) T728A probably benign Het
Asap2 G T 12: 21,315,964 (GRCm39) E919* probably null Het
Atp10b A T 11: 43,136,291 (GRCm39) I1140F probably damaging Het
Cep126 A T 9: 8,103,383 (GRCm39) V209E probably damaging Het
Cfap65 C T 1: 74,965,792 (GRCm39) R406Q probably benign Het
Cldn1 T C 16: 26,190,376 (GRCm39) M1V probably null Het
Cryl1 C T 14: 57,512,956 (GRCm39) D304N probably benign Het
D3Ertd751e T C 3: 41,708,212 (GRCm39) probably null Het
D630044L22Rik A T 17: 26,181,090 (GRCm39) M156L probably benign Het
Ddx21 T C 10: 62,427,634 (GRCm39) D423G possibly damaging Het
Dock2 T A 11: 34,260,363 (GRCm39) M993L probably benign Het
Dusp29 A T 14: 21,727,129 (GRCm39) I173N probably damaging Het
Eif4g1 C T 16: 20,500,252 (GRCm39) A675V probably damaging Het
Eml1 C T 12: 108,472,810 (GRCm39) S206L probably benign Het
Farp2 A C 1: 93,531,181 (GRCm39) I560L probably benign Het
Fbn1 A T 2: 125,223,969 (GRCm39) D593E probably benign Het
Fetub A G 16: 22,748,007 (GRCm39) D61G possibly damaging Het
Fpgs T C 2: 32,576,641 (GRCm39) K329E probably benign Het
Fpgt T C 3: 154,797,120 (GRCm39) Y45C probably damaging Het
Gas2l1 A T 11: 5,011,106 (GRCm39) C574* probably null Het
Gm9747 G T 1: 82,211,837 (GRCm39) C12F unknown Het
H2-T23 T C 17: 36,342,709 (GRCm39) Y143C probably damaging Het
Hhip A T 8: 80,719,142 (GRCm39) S462T probably benign Het
Hoxa5 C T 6: 52,181,023 (GRCm39) C103Y probably damaging Het
Kansl3 G T 1: 36,390,848 (GRCm39) D395E possibly damaging Het
Marchf10 A G 11: 105,299,502 (GRCm39) S116P probably benign Het
Med12l C T 3: 59,001,180 (GRCm39) Q748* probably null Het
Mroh7 T A 4: 106,577,791 (GRCm39) N296Y probably damaging Het
Mtbp T G 15: 55,421,961 (GRCm39) D61E probably benign Het
Muc5b A T 7: 141,411,391 (GRCm39) I1446L unknown Het
Myh15 T C 16: 48,901,705 (GRCm39) V266A possibly damaging Het
Nap1l1 G A 10: 111,330,655 (GRCm39) probably null Het
Napsa A G 7: 44,235,159 (GRCm39) T315A probably benign Het
Nlrc5 A T 8: 95,206,350 (GRCm39) I734F probably damaging Het
Nnt A G 13: 119,531,198 (GRCm39) V183A probably damaging Het
Nploc4 A T 11: 120,276,614 (GRCm39) D477E probably benign Het
Nrip3 A G 7: 109,364,695 (GRCm39) S144P probably damaging Het
Ntng1 A T 3: 109,842,445 (GRCm39) F109L probably benign Het
Or5p61 A G 7: 107,758,883 (GRCm39) Y66H probably damaging Het
Or5v1 T A 17: 37,809,776 (GRCm39) V78D probably damaging Het
Or6aa1 G A 7: 86,044,752 (GRCm39) probably benign Het
Or8b36 A G 9: 37,937,795 (GRCm39) E231G probably benign Het
Pacsin1 G A 17: 27,921,707 (GRCm39) D30N probably damaging Het
Pbld2 A T 10: 62,860,368 (GRCm39) probably benign Het
Pcnx4 C T 12: 72,613,750 (GRCm39) T565I probably damaging Het
Pdzk1 A T 3: 96,763,246 (GRCm39) T225S probably benign Het
Phyhip T G 14: 70,704,639 (GRCm39) I286S probably benign Het
Pkd1 T A 17: 24,813,086 (GRCm39) Y3903N probably damaging Het
Plcb3 A T 19: 6,942,698 (GRCm39) L222Q probably damaging Het
Plcd4 T A 1: 74,593,662 (GRCm39) H262Q probably benign Het
Plekhh1 C T 12: 79,109,390 (GRCm39) A474V probably benign Het
Plppr3 T C 10: 79,701,537 (GRCm39) E435G probably damaging Het
Poln T A 5: 34,276,340 (GRCm39) N305I possibly damaging Het
Pou3f2 T C 4: 22,486,874 (GRCm39) T420A probably benign Het
Ppdpf T C 2: 180,829,523 (GRCm39) Y17H probably damaging Het
Prrx2 C A 2: 30,768,485 (GRCm39) T104K probably damaging Het
Ptprj A T 2: 90,294,822 (GRCm39) L462H probably benign Het
Radil T C 5: 142,471,304 (GRCm39) T991A probably damaging Het
Rbsn T C 6: 92,178,608 (GRCm39) E147G probably damaging Het
Ror2 C T 13: 53,300,742 (GRCm39) V35M probably benign Het
Rps6ka1 T C 4: 133,599,373 (GRCm39) Q18R probably benign Het
Setbp1 T A 18: 78,902,734 (GRCm39) D311V possibly damaging Het
Setd2 C T 9: 110,377,865 (GRCm39) S560L possibly damaging Het
Slc12a5 A T 2: 164,816,878 (GRCm39) I134F probably damaging Het
Speer1h C T 5: 11,647,706 (GRCm39) T148I possibly damaging Het
Svil A G 18: 5,116,080 (GRCm39) D2035G probably damaging Het
Syngap1 T C 17: 27,178,985 (GRCm39) Y665H probably damaging Het
Tbc1d9b T C 11: 50,043,519 (GRCm39) Y547H possibly damaging Het
Tgm2 A G 2: 157,980,812 (GRCm39) V83A probably benign Het
Tmem233 T C 5: 116,189,429 (GRCm39) I117V probably benign Het
Tsen34 A G 7: 3,703,640 (GRCm39) T293A probably damaging Het
Ttn A G 2: 76,709,023 (GRCm39) V8752A unknown Het
Ubac1 A G 2: 25,904,974 (GRCm39) V88A probably benign Het
Uchl4 T C 9: 64,142,621 (GRCm39) V34A probably damaging Het
Ugt2a2 C T 5: 87,608,435 (GRCm39) R468H probably benign Het
Vmn2r102 A T 17: 19,897,749 (GRCm39) T255S probably benign Het
Wdr6 T A 9: 108,450,564 (GRCm39) N988I probably damaging Het
Wnk1 A T 6: 119,903,389 (GRCm39) I2359N unknown Het
Ybey A G 10: 76,304,025 (GRCm39) V59A probably benign Het
Zfp268 T A 4: 145,349,375 (GRCm39) C271S possibly damaging Het
Zfp397 A G 18: 24,090,122 (GRCm39) N142S probably benign Het
Zfy1 A T Y: 725,788 (GRCm39) V659E probably damaging Het
Other mutations in Hnf1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01798:Hnf1a APN 5 115,091,732 (GRCm39) missense probably damaging 1.00
IGL02192:Hnf1a APN 5 115,098,177 (GRCm39) missense probably damaging 1.00
IGL03053:Hnf1a APN 5 115,108,792 (GRCm39) missense probably benign 0.00
R0522:Hnf1a UTSW 5 115,088,747 (GRCm39) splice site probably benign
R0543:Hnf1a UTSW 5 115,088,803 (GRCm39) missense probably benign
R1498:Hnf1a UTSW 5 115,108,596 (GRCm39) missense probably damaging 1.00
R1827:Hnf1a UTSW 5 115,098,254 (GRCm39) missense probably damaging 1.00
R1852:Hnf1a UTSW 5 115,108,770 (GRCm39) missense probably damaging 1.00
R2408:Hnf1a UTSW 5 115,098,070 (GRCm39) splice site probably null
R2898:Hnf1a UTSW 5 115,098,106 (GRCm39) nonsense probably null
R4050:Hnf1a UTSW 5 115,108,633 (GRCm39) missense probably damaging 1.00
R4627:Hnf1a UTSW 5 115,093,930 (GRCm39) missense probably damaging 1.00
R4859:Hnf1a UTSW 5 115,093,311 (GRCm39) missense possibly damaging 0.84
R4873:Hnf1a UTSW 5 115,108,732 (GRCm39) missense probably benign 0.00
R4875:Hnf1a UTSW 5 115,108,732 (GRCm39) missense probably benign 0.00
R6488:Hnf1a UTSW 5 115,094,020 (GRCm39) missense probably benign
R7999:Hnf1a UTSW 5 115,098,233 (GRCm39) nonsense probably null
R8085:Hnf1a UTSW 5 115,108,732 (GRCm39) missense probably benign 0.00
R8093:Hnf1a UTSW 5 115,093,336 (GRCm39) missense probably benign
R8360:Hnf1a UTSW 5 115,091,391 (GRCm39) missense possibly damaging 0.93
R8539:Hnf1a UTSW 5 115,108,576 (GRCm39) critical splice donor site probably null
R9047:Hnf1a UTSW 5 115,088,882 (GRCm39) missense probably benign
X0067:Hnf1a UTSW 5 115,093,539 (GRCm39) missense possibly damaging 0.52
Z1176:Hnf1a UTSW 5 115,088,183 (GRCm39) frame shift probably null
Predicted Primers PCR Primer
(F):5'- GGAAATTTCCACACTATGCTTAGTGG -3'
(R):5'- GACACTCCAGCTCAACTTGG -3'

Sequencing Primer
(F):5'- TCATGGGTGCCTAGCTGCAG -3'
(R):5'- AACTTGGTTTACCCTCACAGG -3'
Posted On 2019-05-15