Incidental Mutation 'R6310:Hnf1b'
ID 509551
Institutional Source Beutler Lab
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
MMRRC Submission 044414-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6310 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 83741035-83796743 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 83795737 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 527 (C527S)
Ref Sequence ENSEMBL: ENSMUSP00000103749 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021016] [ENSMUST00000108113] [ENSMUST00000108114]
AlphaFold P27889
Predicted Effect probably benign
Transcript: ENSMUST00000021016
AA Change: C553S

PolyPhen 2 Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000021016
Gene: ENSMUSG00000020679
AA Change: C553S

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 benign
Transcript: ENSMUST00000108113
AA Change: C430S

PolyPhen 2 Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000103748
Gene: ENSMUSG00000020679
AA Change: C430S

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 damaging
Transcript: ENSMUST00000108114
AA Change: C527S

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000103749
Gene: ENSMUSG00000020679
AA Change: C527S

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.5%
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acly C G 11: 100,373,046 (GRCm39) G856A possibly damaging Het
Adgrb3 T A 1: 25,150,799 (GRCm39) M1145L probably benign Het
Akap13 A T 7: 75,398,941 (GRCm39) H2673L probably damaging Het
Bmpr1b A G 3: 141,570,297 (GRCm39) S131P probably damaging Het
Cep72 A C 13: 74,201,144 (GRCm39) S175A possibly damaging Het
Chd2 C T 7: 73,102,912 (GRCm39) E1358K probably damaging Het
Cmip T C 8: 118,156,549 (GRCm39) I308T possibly damaging Het
Cps1 A T 1: 67,182,140 (GRCm39) N118I probably benign Het
Cux1 C T 5: 136,304,018 (GRCm39) G1265D probably benign Het
Ddx24 C A 12: 103,390,166 (GRCm39) R275L probably damaging Het
Dhx58 T C 11: 100,590,193 (GRCm39) S364G probably benign Het
Dis3l A C 9: 64,229,857 (GRCm39) V274G probably benign Het
Fryl A T 5: 73,349,104 (GRCm39) probably benign Het
Gbf1 A G 19: 46,268,444 (GRCm39) H1272R probably damaging Het
Gjb3 A G 4: 127,220,433 (GRCm39) V33A probably damaging Het
Gm11595 G A 11: 99,663,381 (GRCm39) R100C unknown Het
Gm9964 T C 11: 79,187,476 (GRCm39) probably benign Het
Grk5 T C 19: 61,069,349 (GRCm39) I342T probably damaging Het
Hoxd4 G T 2: 74,558,734 (GRCm39) A186S possibly damaging Het
Ighv1-78 G A 12: 115,832,584 (GRCm39) H54Y probably benign Het
Intu T A 3: 40,655,721 (GRCm39) L936* probably null Het
Kcp G A 6: 29,493,257 (GRCm39) R89W probably damaging Het
Kctd3 T C 1: 188,704,435 (GRCm39) T779A probably benign Het
Muc16 G A 9: 18,553,246 (GRCm39) P4349L probably benign Het
Nedd9 T C 13: 41,471,928 (GRCm39) T178A probably benign Het
Nuak2 G T 1: 132,257,699 (GRCm39) A204S probably damaging Het
Or51f1 T A 7: 102,506,412 (GRCm39) I26F probably benign Het
Or6c214 T C 10: 129,590,528 (GRCm39) R264G probably benign Het
Pcdhac2 C A 18: 37,278,824 (GRCm39) Y601* probably null Het
Pla2g4a T A 1: 149,717,977 (GRCm39) D624V possibly damaging Het
Plxnb1 T C 9: 108,938,796 (GRCm39) V1386A probably damaging Het
Plxnd1 T A 6: 115,953,697 (GRCm39) L623F possibly damaging Het
Pms2 T A 5: 143,860,401 (GRCm39) S71R probably benign Het
Prkg1 T C 19: 30,546,651 (GRCm39) D683G probably damaging Het
Rasgrp3 T A 17: 75,801,204 (GRCm39) Y45N probably damaging Het
Rfc4 T C 16: 22,933,459 (GRCm39) I233M probably benign Het
Sema3a G A 5: 13,606,986 (GRCm39) G274S probably damaging Het
Sesn1 T C 10: 41,772,074 (GRCm39) L201P probably damaging Het
Setx G A 2: 29,066,947 (GRCm39) V2363I possibly damaging Het
Sh3glb1 A G 3: 144,403,228 (GRCm39) S81P probably damaging Het
Sik3 A G 9: 46,089,784 (GRCm39) S218G probably damaging Het
Slc12a2 C G 18: 58,048,578 (GRCm39) F781L probably damaging Het
Slc12a6 A T 2: 112,166,184 (GRCm39) I188F probably damaging Het
Slc34a2 A G 5: 53,222,139 (GRCm39) probably null Het
Slc35f4 A G 14: 49,559,914 (GRCm39) C44R probably damaging Het
Sytl1 G A 4: 132,988,309 (GRCm39) P16S probably benign Het
Taok3 C T 5: 117,394,003 (GRCm39) T592M possibly damaging Het
Tgfb1i1 T C 7: 127,852,009 (GRCm39) F303L probably damaging Het
Txk T C 5: 72,893,760 (GRCm39) S7G probably benign Het
Utp4 T C 8: 107,645,253 (GRCm39) V550A probably benign Het
Vmn1r229 G A 17: 21,034,976 (GRCm39) D74N probably benign Het
Zfp638 A G 6: 83,844,212 (GRCm39) D25G possibly damaging Het
Zfp646 T C 7: 127,483,079 (GRCm39) V1752A 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
IGL02370:Hnf1b APN 11 83,773,559 (GRCm39) missense possibly damaging 0.94
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
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
Predicted Primers PCR Primer
(F):5'- AAATCAGGACTATTTCAGGCTCC -3'
(R):5'- TTATCTGAGGTGCCTGGCAG -3'

Sequencing Primer
(F):5'- TCCCAGGGAAGTTCTCTTGAAAG -3'
(R):5'- AGGTGCCTGGCAGGATGTC -3'
Posted On 2018-04-02