Incidental Mutation 'IGL02225:Hnf1b'
ID285313
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hnf1b
Ensembl Gene ENSMUSG00000020679
Gene NameHNF1 homeobox B
SynonymsHnf1beta, HNF-1Beta, Tcf-2, hepatocyte nuclear factor-1 beta, LFB3, vHNF1, Tcf2
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02225
Quality Score
Status
Chromosome11
Chromosomal Location83850063-83905819 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 83861785 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 82 (L82P)
Ref Sequence ENSEMBL: ENSMUSP00000103748 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021016] [ENSMUST00000108113] [ENSMUST00000108114] [ENSMUST00000146786]
Predicted Effect probably damaging
Transcript: ENSMUST00000021016
AA Change: L205P

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000021016
Gene: ENSMUSG00000020679
AA Change: L205P

DomainStartEndE-ValueType
Pfam:HNF-1_N 8 174 4.5e-67 PFAM
HOX 231 314 2.84e-8 SMART
low complexity region 334 344 N/A INTRINSIC
low complexity region 538 550 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000108113
AA Change: L82P

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000103748
Gene: ENSMUSG00000020679
AA Change: L82P

DomainStartEndE-ValueType
Pfam:HNF-1_N 1 59 9.2e-42 PFAM
HOX 108 191 2.84e-8 SMART
low complexity region 211 221 N/A INTRINSIC
low complexity region 415 427 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108114
SMART Domains Protein: ENSMUSP00000103749
Gene: ENSMUSG00000020679

DomainStartEndE-ValueType
Pfam:HNF-1_N 1 182 1.2e-85 PFAM
HOX 205 288 2.84e-8 SMART
low complexity region 308 318 N/A INTRINSIC
low complexity region 512 524 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000146786
SMART Domains Protein: ENSMUSP00000123297
Gene: ENSMUSG00000020679

DomainStartEndE-ValueType
Pfam:HNF-1_N 1 59 2.5e-42 PFAM
HOX 82 165 2.84e-8 SMART
low complexity region 185 195 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the homeodomain-containing superfamily of transcription factors. The protein binds to DNA as either a homodimer, or a heterodimer with the related protein hepatocyte nuclear factor 1-alpha. The gene has been shown to function in nephron development, and regulates development of the embryonic pancreas. Mutations in this gene result in renal cysts and diabetes syndrome and noninsulin-dependent diabetes mellitus, and expression of this gene is altered in some types of cancer. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
PHENOTYPE: Homozygotes for targeted null mutations exhibit reduced size, impaired development of extraembryonic membranes, lack of visceral or parietal endoderm, and early post-implantation lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp4 A G 7: 44,256,741 probably null Het
Adgrf4 C A 17: 42,663,378 probably null Het
Aqp9 A T 9: 71,130,547 probably benign Het
C1s1 A G 6: 124,541,334 W8R probably benign Het
Cfap43 A G 19: 47,812,177 I345T probably benign Het
Cwh43 T C 5: 73,421,567 Y306H probably damaging Het
Cyp4a32 A T 4: 115,610,503 H228L probably benign Het
Ddx24 A G 12: 103,417,371 L607P probably damaging Het
Dlg3 A G X: 100,807,188 K232R probably benign Het
Fgfr1op T G 17: 8,182,419 D257E probably damaging Het
Fig4 A G 10: 41,256,452 S453P probably benign Het
Frem1 A G 4: 82,940,506 L1556P probably damaging Het
Gjb2 T C 14: 57,100,188 K188E probably damaging Het
Gp1bb C A 16: 18,620,900 W148L possibly damaging Het
Grip1 C T 10: 120,049,453 T375M probably damaging Het
Jakmip1 T C 5: 37,104,856 V333A probably damaging Het
Magi1 G T 6: 93,694,026 R1069S probably damaging Het
Myh15 A T 16: 49,091,163 E319D probably benign Het
Myl4 A G 11: 104,580,402 I42V probably benign Het
Obsl1 A T 1: 75,503,798 V394E probably damaging Het
Olfr1137 C T 2: 87,711,399 C169Y possibly damaging Het
Olfr376 T A 11: 73,375,078 F110I probably damaging Het
Olfr598 A T 7: 103,329,166 I227F probably damaging Het
Pcnt C T 10: 76,389,474 R1732K probably benign Het
Pkd1l3 T C 8: 109,638,678 Y1144H probably damaging Het
Pogz A G 3: 94,879,016 K972E probably damaging Het
Sccpdh A G 1: 179,679,699 T227A probably benign Het
Sec16b A G 1: 157,532,044 probably benign Het
Slain2 T A 5: 72,941,390 V163E probably damaging Het
Snx1 G A 9: 66,109,621 P56L probably benign Het
Snx14 G A 9: 88,413,524 T196I probably damaging Het
Sspo T C 6: 48,484,334 F3570L probably benign Het
Tbrg4 C A 11: 6,624,094 V43F probably damaging Het
Traf3ip3 A G 1: 193,195,100 I176T probably benign Het
Trbv20 T A 6: 41,188,307 probably benign Het
Ubc A T 5: 125,386,133 V710D probably benign Het
Ugt2b35 T C 5: 87,007,405 probably benign Het
Zbed5 C T 5: 129,902,133 probably null Het
Zc3hav1 T C 6: 38,340,341 Y108C probably damaging Het
Other mutations in Hnf1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00801:Hnf1b APN 11 83855924 missense probably damaging 1.00
IGL00969:Hnf1b APN 11 83882700 missense probably benign 0.00
IGL01406:Hnf1b APN 11 83889124 missense probably benign 0.00
IGL02370:Hnf1b APN 11 83882733 missense possibly damaging 0.94
IGL02827:Hnf1b APN 11 83855926 missense probably damaging 0.99
R0606:Hnf1b UTSW 11 83863984 missense probably benign 0.20
R1534:Hnf1b UTSW 11 83893583 splice site probably benign
R2484:Hnf1b UTSW 11 83861835 missense probably benign 0.00
R5396:Hnf1b UTSW 11 83856037 missense probably damaging 1.00
R5930:Hnf1b UTSW 11 83863985 missense probably benign 0.00
R5935:Hnf1b UTSW 11 83882677 missense probably damaging 1.00
R6310:Hnf1b UTSW 11 83904911 missense probably damaging 0.99
R6701:Hnf1b UTSW 11 83889094 missense probably damaging 1.00
Posted On2015-04-16