Incidental Mutation 'R7681:Hnf1b'
ID 592776
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 045747-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7681 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 83741035-83796743 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 83779972 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Serine at position 435 (I435S)
Ref Sequence ENSEMBL: ENSMUSP00000021016 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021016] [ENSMUST00000108113] [ENSMUST00000108114]
AlphaFold P27889
Predicted Effect probably damaging
Transcript: ENSMUST00000021016
AA Change: I435S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021016
Gene: ENSMUSG00000020679
AA Change: I435S

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: I312S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103748
Gene: ENSMUSG00000020679
AA Change: I312S

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: I409S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103749
Gene: ENSMUSG00000020679
AA Change: I409S

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: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 97% (58/60)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b C T 5: 8,899,619 (GRCm39) A963V probably benign Het
Agbl1 T C 7: 76,094,649 (GRCm39) V760A unknown Het
Akap13 T C 7: 75,378,544 (GRCm39) F347L possibly damaging Het
Anapc5 A T 5: 122,940,202 (GRCm39) F356L probably benign Het
Bmp6 A G 13: 38,530,171 (GRCm39) H88R probably damaging Het
Cblb C A 16: 52,025,001 (GRCm39) S921R probably damaging Het
Ccs T A 19: 4,882,858 (GRCm39) probably null Het
Cyp20a1 A G 1: 60,392,192 (GRCm39) T83A probably benign Het
Defa25 T A 8: 21,574,535 (GRCm39) D26E probably benign Het
Dmwd T A 7: 18,815,007 (GRCm39) N552K probably benign Het
Dnah17 C T 11: 117,916,012 (GRCm39) V4297M probably damaging Het
Fam135a A T 1: 24,106,996 (GRCm39) S47R probably benign Het
Fbxo41 A T 6: 85,455,461 (GRCm39) C574* probably null Het
Fgb T C 3: 82,957,139 (GRCm39) probably benign Het
Fgfr1 C T 8: 26,045,677 (GRCm39) T82I probably damaging Het
Fhod3 T A 18: 25,123,095 (GRCm39) L262M probably damaging Het
Galnt16 A T 12: 80,637,413 (GRCm39) Q380L probably damaging Het
Glp2r C T 11: 67,600,505 (GRCm39) G448D probably benign Het
Gnb4 C A 3: 32,641,902 (GRCm39) A242S possibly damaging Het
Golim4 T C 3: 75,794,331 (GRCm39) probably null Het
Grik2 G T 10: 49,120,476 (GRCm39) N604K probably damaging Het
Hoxa11 C T 6: 52,222,099 (GRCm39) G201S probably benign Het
Hpse A G 5: 100,839,257 (GRCm39) S364P possibly damaging Het
Kif16b A T 2: 142,598,046 (GRCm39) N525K probably damaging Het
Kif1a A T 1: 92,982,666 (GRCm39) C704S probably benign Het
Limk2 A G 11: 3,303,354 (GRCm39) S322P probably damaging Het
Lrp1b A T 2: 40,765,011 (GRCm39) C2938* probably null Het
Malrd1 A G 2: 16,222,913 (GRCm39) R2071G unknown Het
Man2a2 T A 7: 80,001,497 (GRCm39) I1137F possibly damaging Het
Map2k6 C T 11: 110,388,729 (GRCm39) R224* probably null Het
Map3k4 G A 17: 12,537,430 (GRCm39) P29L unknown Het
Morn5 A T 2: 35,947,156 (GRCm39) N145Y possibly damaging Het
Muc20 T C 16: 32,613,989 (GRCm39) T463A probably benign Het
Myh10 C T 11: 68,662,762 (GRCm39) T642I probably damaging Het
Myh14 C A 7: 44,273,572 (GRCm39) R1362L possibly damaging Het
Nup88 C A 11: 70,860,711 (GRCm39) V23L probably benign Het
Ogfr GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG 2: 180,237,059 (GRCm39) probably benign Het
Or13p8 A G 4: 118,583,761 (GRCm39) I106V probably benign Het
Or4c116 A C 2: 88,941,935 (GRCm39) V307G probably benign Het
Or5p56 T C 7: 107,590,355 (GRCm39) M261T possibly damaging Het
Pabpn1 T C 14: 55,135,499 (GRCm39) Y299H probably damaging Het
Pak4 T C 7: 28,259,655 (GRCm39) E514G probably damaging Het
Ppp1r12b A C 1: 134,793,673 (GRCm39) S564A probably benign Het
Psmc2 T C 5: 22,008,272 (GRCm39) probably null Het
Psme4 A G 11: 30,741,975 (GRCm39) Y146C possibly damaging Het
Rb1cc1 A G 1: 6,310,547 (GRCm39) D315G probably damaging Het
Rilpl1 A G 5: 124,668,976 (GRCm39) V24A possibly damaging Het
Rtel1 A T 2: 180,964,187 (GRCm39) H62L probably damaging Het
Ruvbl1 G A 6: 88,444,635 (GRCm39) probably null Het
Scn5a A G 9: 119,359,043 (GRCm39) V668A probably benign Het
Slc22a6 G A 19: 8,603,493 (GRCm39) G519E probably benign Het
Slc43a2 T A 11: 75,454,499 (GRCm39) I348N probably benign Het
Slc6a16 T A 7: 44,910,338 (GRCm39) L347Q probably damaging Het
Smg6 T A 11: 74,822,531 (GRCm39) L658H probably damaging Het
Spata31e4 C T 13: 50,856,290 (GRCm39) P643S possibly damaging Het
Spidr C A 16: 15,713,488 (GRCm39) G832W probably damaging Het
Ssrp1 G A 2: 84,876,092 (GRCm39) G616E probably benign Het
Sult1b1 G A 5: 87,678,495 (GRCm39) L110F probably damaging Het
Tfec T A 6: 16,834,235 (GRCm39) H224L probably benign Het
Ttn C T 2: 76,539,295 (GRCm39) E34564K probably benign Het
Washc2 A G 6: 116,237,618 (GRCm39) D1285G probably damaging Het
Zfp870 T C 17: 33,101,664 (GRCm39) E555G 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
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
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'- TCTTGAAAGCAGCCCTTGTTG -3'
(R):5'- ATGCCTGTGATCCCAACAC -3'

Sequencing Primer
(F):5'- AAAGCAGCCCTTGTTGGTTTAATCC -3'
(R):5'- CAAATCCGAGGGTAGCTTGATCTC -3'
Posted On 2019-11-12