Incidental Mutation 'IGL02370:Hnf1b'
ID290909
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 #IGL02370
Quality Score
Status
Chromosome11
Chromosomal Location83850063-83905819 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 83882733 bp
ZygosityHeterozygous
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]
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
1300017J02Rik A G 9: 103,263,074 V482A probably benign Het
4732471J01Rik T C 7: 25,384,888 probably benign Het
Abra T C 15: 41,869,244 D142G probably damaging Het
Aldh9a1 A G 1: 167,356,532 N199D probably damaging Het
Baz2b A T 2: 59,923,589 I1130N possibly damaging Het
Cacna1s A G 1: 136,085,347 I312V probably damaging Het
Chrd A G 16: 20,735,791 M367V possibly damaging Het
Clec12a C T 6: 129,354,576 A160V possibly damaging Het
Cnnm1 T C 19: 43,471,950 probably null Het
Cntnap3 A T 13: 64,751,751 M976K probably benign Het
Cyp27b1 T C 10: 127,050,674 probably benign Het
Ddx54 T A 5: 120,619,787 L226Q probably damaging Het
Dnah7a A G 1: 53,635,397 V407A probably benign Het
Elp4 A G 2: 105,794,592 S201P probably damaging Het
Exoc3 A T 13: 74,192,761 V308D probably benign Het
Exosc3 A G 4: 45,319,671 I117T probably damaging Het
Gbx2 A T 1: 89,929,149 probably benign Het
Gm4858 A G 3: 93,074,047 D124G possibly damaging Het
Itih5 A T 2: 10,186,975 Y107F probably benign Het
Kcnb2 A G 1: 15,710,935 N677S probably benign Het
Knstrn T A 2: 118,823,788 probably null Het
Lin9 G T 1: 180,688,018 C451F probably damaging Het
Mast1 A C 8: 84,912,254 V1482G probably benign Het
Mroh4 A G 15: 74,625,541 F144L probably benign Het
Myrf T C 19: 10,214,140 N945D probably benign Het
Nfrkb G A 9: 31,389,012 G33D probably benign Het
Olfr1036 C A 2: 86,074,788 T16K probably damaging Het
P2ry13 T C 3: 59,209,465 I297M probably damaging Het
Pcdhb21 T A 18: 37,514,592 probably null Het
Pitpnm3 A G 11: 72,051,858 Y868H probably benign Het
Pou2f3 G A 9: 43,137,348 R266W probably damaging Het
Rcn3 T C 7: 45,083,333 S304G probably benign Het
Rinl A G 7: 28,794,972 probably null Het
Sema5a T C 15: 32,682,299 probably benign Het
Sipa1l2 A G 8: 125,480,269 L565P probably damaging Het
Slc5a9 A G 4: 111,877,629 I656T probably benign Het
Sptan1 A G 2: 30,030,740 K2404R probably damaging Het
Tarsl2 C A 7: 65,661,165 P314Q probably benign Het
Tbc1d14 C T 5: 36,495,218 V627I possibly damaging Het
Tfcp2 A T 15: 100,512,304 V394D probably damaging Het
Trerf1 C T 17: 47,314,461 noncoding transcript Het
Ucp2 A G 7: 100,498,384 N190S probably damaging Het
Vmn2r124 A G 17: 18,064,191 Q498R probably benign Het
Yeats2 T A 16: 20,150,471 I4N probably damaging Het
Zfp574 T G 7: 25,079,589 I12S possibly damaging Het
Zscan29 T A 2: 121,163,833 E522V probably benign 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
IGL02225:Hnf1b APN 11 83861785 missense probably damaging 0.98
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
R7681:Hnf1b UTSW 11 83889146 missense probably damaging 1.00
Posted On2015-04-16