Incidental Mutation 'IGL02370:Hnf1b'
ID 290909
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hnf1b
Ensembl Gene ENSMUSG00000020679
Gene Name HNF1 homeobox B
Synonyms Hnf1beta, Tcf-2, Tcf2, HNF-1Beta, vHNF1, LFB3, hepatocyte nuclear factor-1 beta
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02370
Quality Score
Status
Chromosome 11
Chromosomal Location 83741035-83796743 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 83773559 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Proline at position 253 (T253P)
Ref Sequence ENSEMBL: ENSMUSP00000103748 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021016] [ENSMUST00000108113] [ENSMUST00000108114]
AlphaFold P27889
Predicted Effect possibly damaging
Transcript: ENSMUST00000021016
AA Change: T376P

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000021016
Gene: ENSMUSG00000020679
AA Change: T376P

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 possibly damaging
Transcript: ENSMUST00000108113
AA Change: T253P

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000103748
Gene: ENSMUSG00000020679
AA Change: T253P

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 possibly damaging
Transcript: ENSMUST00000108114
AA Change: T350P

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000103749
Gene: ENSMUSG00000020679
AA Change: T350P

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
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4732471J01Rik T C 7: 25,084,313 (GRCm39) probably benign Het
Abra T C 15: 41,732,640 (GRCm39) D142G probably damaging Het
Aldh9a1 A G 1: 167,184,101 (GRCm39) N199D probably damaging Het
Baz2b A T 2: 59,753,933 (GRCm39) I1130N possibly damaging Het
Cacna1s A G 1: 136,013,085 (GRCm39) I312V probably damaging Het
Chrd A G 16: 20,554,541 (GRCm39) M367V possibly damaging Het
Clec12a C T 6: 129,331,539 (GRCm39) A160V possibly damaging Het
Cnnm1 T C 19: 43,460,389 (GRCm39) probably null Het
Cntnap3 A T 13: 64,899,565 (GRCm39) M976K probably benign Het
Cyp27b1 T C 10: 126,886,543 (GRCm39) probably benign Het
Ddx54 T A 5: 120,757,852 (GRCm39) L226Q probably damaging Het
Dnah7a A G 1: 53,674,556 (GRCm39) V407A probably benign Het
Elp4 A G 2: 105,624,937 (GRCm39) S201P probably damaging Het
Exoc3 A T 13: 74,340,880 (GRCm39) V308D probably benign Het
Exosc3 A G 4: 45,319,671 (GRCm39) I117T probably damaging Het
Gbx2 A T 1: 89,856,871 (GRCm39) probably benign Het
Inhca A G 9: 103,140,273 (GRCm39) V482A probably benign Het
Itih5 A T 2: 10,191,786 (GRCm39) Y107F probably benign Het
Kcnb2 A G 1: 15,781,159 (GRCm39) N677S probably benign Het
Knstrn T A 2: 118,654,269 (GRCm39) probably null Het
Lin9 G T 1: 180,515,583 (GRCm39) C451F probably damaging Het
Mast1 A C 8: 85,638,883 (GRCm39) V1482G probably benign Het
Mroh4 A G 15: 74,497,390 (GRCm39) F144L probably benign Het
Myrf T C 19: 10,191,504 (GRCm39) N945D probably benign Het
Nfrkb G A 9: 31,300,308 (GRCm39) G33D probably benign Het
Or5m9b C A 2: 85,905,132 (GRCm39) T16K probably damaging Het
P2ry13 T C 3: 59,116,886 (GRCm39) I297M probably damaging Het
Pcdhb21 T A 18: 37,647,645 (GRCm39) probably null Het
Pitpnm3 A G 11: 71,942,684 (GRCm39) Y868H probably benign Het
Pou2f3 G A 9: 43,048,643 (GRCm39) R266W probably damaging Het
Rcn3 T C 7: 44,732,757 (GRCm39) S304G probably benign Het
Rinl A G 7: 28,494,397 (GRCm39) probably null Het
Sema5a T C 15: 32,682,445 (GRCm39) probably benign Het
Sipa1l2 A G 8: 126,207,008 (GRCm39) L565P probably damaging Het
Slc5a9 A G 4: 111,734,826 (GRCm39) I656T probably benign Het
Sptan1 A G 2: 29,920,752 (GRCm39) K2404R probably damaging Het
Tars3 C A 7: 65,310,913 (GRCm39) P314Q probably benign Het
Tbc1d14 C T 5: 36,652,562 (GRCm39) V627I possibly damaging Het
Tdpoz8 A G 3: 92,981,354 (GRCm39) D124G possibly damaging Het
Tfcp2 A T 15: 100,410,185 (GRCm39) V394D probably damaging Het
Trerf1 C T 17: 47,625,387 (GRCm39) noncoding transcript Het
Ucp2 A G 7: 100,147,591 (GRCm39) N190S probably damaging Het
Vmn2r124 A G 17: 18,284,453 (GRCm39) Q498R probably benign Het
Yeats2 T A 16: 19,969,221 (GRCm39) I4N probably damaging Het
Zfp574 T G 7: 24,779,014 (GRCm39) I12S possibly damaging Het
Zscan29 T A 2: 120,994,314 (GRCm39) E522V probably benign Het
Other mutations in Hnf1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00801:Hnf1b APN 11 83,746,750 (GRCm39) missense probably damaging 1.00
IGL00969:Hnf1b APN 11 83,773,526 (GRCm39) missense probably benign 0.00
IGL01406:Hnf1b APN 11 83,779,950 (GRCm39) missense probably benign 0.00
IGL02225:Hnf1b APN 11 83,752,611 (GRCm39) missense probably damaging 0.98
IGL02827:Hnf1b APN 11 83,746,752 (GRCm39) missense probably damaging 0.99
R0606:Hnf1b UTSW 11 83,754,810 (GRCm39) missense probably benign 0.20
R1534:Hnf1b UTSW 11 83,784,409 (GRCm39) splice site probably benign
R2484:Hnf1b UTSW 11 83,752,661 (GRCm39) missense probably benign 0.00
R5396:Hnf1b UTSW 11 83,746,863 (GRCm39) missense probably damaging 1.00
R5930:Hnf1b UTSW 11 83,754,811 (GRCm39) missense probably benign 0.00
R5935:Hnf1b UTSW 11 83,773,503 (GRCm39) missense probably damaging 1.00
R6310:Hnf1b UTSW 11 83,795,737 (GRCm39) missense probably damaging 0.99
R6701:Hnf1b UTSW 11 83,779,920 (GRCm39) missense probably damaging 1.00
R7681:Hnf1b UTSW 11 83,779,972 (GRCm39) missense probably damaging 1.00
R9371:Hnf1b UTSW 11 83,779,986 (GRCm39) missense probably benign 0.00
R9776:Hnf1b UTSW 11 83,784,283 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16