Incidental Mutation 'R6488:Hnf1a'
ID 522496
Institutional Source Beutler Lab
Gene Symbol Hnf1a
Ensembl Gene ENSMUSG00000029556
Gene Name HNF1 homeobox A
Synonyms hepatocyte nuclear factor 1, Tcf1, HNF1, HNF1[a], Hnf-1, HNF1-alpha, LFB1, Hnf1alpha
MMRRC Submission 044620-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.865) question?
Stock # R6488 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 115087039-115109121 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 115094020 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 190 (T190A)
Ref Sequence ENSEMBL: ENSMUSP00000135678 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031535] [ENSMUST00000176550] [ENSMUST00000176911]
AlphaFold P22361
Predicted Effect probably benign
Transcript: ENSMUST00000031535
AA Change: T190A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000031535
Gene: ENSMUSG00000029556
AA Change: T190A

DomainStartEndE-ValueType
Pfam:HNF-1_N 8 168 4e-57 PFAM
HOX 199 282 1.85e-7 SMART
low complexity region 288 297 N/A INTRINSIC
Blast:HOX 394 439 7e-20 BLAST
Pfam:HNF-1A_C 540 627 3.4e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000176550
AA Change: T190A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000135678
Gene: ENSMUSG00000029556
AA Change: T190A

DomainStartEndE-ValueType
Pfam:HNF-1_N 1 176 4e-86 PFAM
Blast:HOX 199 238 2e-20 BLAST
SCOP:d1lfb__ 203 238 2e-18 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000176911
SMART Domains Protein: ENSMUSP00000135539
Gene: ENSMUSG00000029556

DomainStartEndE-ValueType
Pfam:HNF-1_N 1 118 6.4e-32 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 92.7%
Validation Efficiency 96% (65/68)
MGI Phenotype FUNCTION: This gene encodes a hepatic transcription factor. The encoded protein is not a member of the T-cell factor family, and is distinct from T-cell specific transcription factor 7 which has also been referred to by the symbol Tcf1. [provided by RefSeq, Jul 2008]
PHENOTYPE: Most homozygous null mutants die at 3-6 weeks from progressive wasting syndrome, liver and renal dysfunction and type II diabetes. Mutants have little or no phenylalanine hydroxylase, albumin, alpha 1-antitrypsin and secreted insulin. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik C T 7: 41,275,298 (GRCm39) Q334* probably null Het
Abhd15 T C 11: 77,406,848 (GRCm39) F275S possibly damaging Het
Adamts7 A G 9: 90,053,535 (GRCm39) T27A probably benign Het
Ankar A G 1: 72,720,967 (GRCm39) probably null Het
Ap2a2 T C 7: 141,182,220 (GRCm39) V183A probably benign Het
Arhgef37 G A 18: 61,651,123 (GRCm39) A134V probably benign Het
Col3a1 C A 1: 45,370,694 (GRCm39) probably benign Het
Cplx3 A G 9: 57,527,926 (GRCm39) S10P possibly damaging Het
Cxcr5 A G 9: 44,425,276 (GRCm39) V127A probably damaging Het
Eif4b T A 15: 102,001,422 (GRCm39) probably benign Het
Ext2 A G 2: 93,636,430 (GRCm39) V228A probably damaging Het
Fam83h T C 15: 75,873,902 (GRCm39) E1145G possibly damaging Het
Fcgbp A G 7: 27,792,963 (GRCm39) D989G probably damaging Het
Fchsd1 T C 18: 38,100,321 (GRCm39) probably null Het
Fcnb T C 2: 27,968,301 (GRCm39) K219E probably damaging Het
Fndc7 T C 3: 108,777,891 (GRCm39) E355G probably damaging Het
Glis3 T C 19: 28,276,253 (GRCm39) H746R probably benign Het
Glod4 A G 11: 76,128,611 (GRCm39) V74A probably damaging Het
Gpc6 T C 14: 118,202,125 (GRCm39) I445T possibly damaging Het
Hdlbp T C 1: 93,355,946 (GRCm39) D337G probably damaging Het
Iqgap1 G C 7: 80,380,074 (GRCm39) T1129R probably benign Het
Kcnc3 T C 7: 44,244,606 (GRCm39) F299L possibly damaging Het
Kif26b T C 1: 178,357,138 (GRCm39) V4A unknown Het
Kifbp C A 10: 62,395,437 (GRCm39) probably null Het
Klra9 G T 6: 130,155,995 (GRCm39) Y253* probably null Het
Krtap4-1 G T 11: 99,518,903 (GRCm39) R36S unknown Het
Lrpprc T C 17: 85,058,781 (GRCm39) N693S probably damaging Het
Lrrc49 A T 9: 60,509,916 (GRCm39) F157L probably damaging Het
Mettl22 T C 16: 8,305,225 (GRCm39) F293L probably damaging Het
Mga T A 2: 119,791,388 (GRCm39) N2424K probably damaging Het
Mgat4f T A 1: 134,318,626 (GRCm39) V466D probably damaging Het
Mpdz G T 4: 81,205,970 (GRCm39) A1784E probably benign Het
Mpv17l G A 16: 13,764,452 (GRCm39) probably null Het
Mtus1 G A 8: 41,494,545 (GRCm39) S29L possibly damaging Het
Myo15a A T 11: 60,369,313 (GRCm39) H691L possibly damaging Het
Nbea T C 3: 55,625,264 (GRCm39) T2276A probably damaging Het
Npas4 A G 19: 5,036,011 (GRCm39) S718P probably damaging Het
Ntrk2 T A 13: 59,009,170 (GRCm39) N320K possibly damaging Het
Nup214 T A 2: 31,881,384 (GRCm39) I414N possibly damaging Het
Oas2 A G 5: 120,876,428 (GRCm39) F15S probably damaging Het
Or52z15 T C 7: 103,332,285 (GRCm39) I110T probably damaging Het
Or5b118 T C 19: 13,448,981 (GRCm39) Y216H probably damaging Het
Pabpc6 A G 17: 9,888,528 (GRCm39) Y8H probably damaging Het
Pbx1 T A 1: 168,018,964 (GRCm39) N294Y probably damaging Het
Pcyt1a T C 16: 32,285,899 (GRCm39) M190T probably damaging Het
Pogk T C 1: 166,226,991 (GRCm39) I387V possibly damaging Het
Ppp6r2 T C 15: 89,152,741 (GRCm39) L294P probably benign Het
Pramel51 T C 12: 88,144,357 (GRCm39) H152R possibly damaging Het
Ptprn2 T A 12: 116,835,658 (GRCm39) I331K probably benign Het
Ptpro T G 6: 137,370,673 (GRCm39) Y591* probably null Het
Ptprz1 T A 6: 23,001,516 (GRCm39) L1202* probably null Het
Rab37 A G 11: 115,048,789 (GRCm39) T73A probably benign Het
Rad51ap2 T G 12: 11,508,161 (GRCm39) S694R possibly damaging Het
Rb1cc1 T A 1: 6,340,951 (GRCm39) D148E probably damaging Het
Rraga G A 4: 86,494,565 (GRCm39) R137H probably damaging Het
Serpinf2 A G 11: 75,328,329 (GRCm39) V73A probably benign Het
Siglec1 T C 2: 130,923,227 (GRCm39) N506S probably damaging Het
Slc35e4 T C 11: 3,862,602 (GRCm39) T196A possibly damaging Het
St6galnac3 C T 3: 153,117,394 (GRCm39) A110T probably damaging Het
Thsd1 T C 8: 22,733,733 (GRCm39) V260A probably benign Het
Tpbg T A 9: 85,726,538 (GRCm39) V169D possibly damaging Het
Trav16n A G 14: 53,589,042 (GRCm39) E106G probably benign Het
Vmn1r219 T C 13: 23,347,135 (GRCm39) I108T probably benign Het
Vmn2r50 T C 7: 9,771,644 (GRCm39) I686V probably damaging Het
Zdhhc20 C T 14: 58,078,289 (GRCm39) R329K probably benign Het
Zfp64 A G 2: 168,777,129 (GRCm39) probably null Het
Zfp941 C T 7: 140,392,663 (GRCm39) R232H probably benign Het
Other mutations in Hnf1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01798:Hnf1a APN 5 115,091,732 (GRCm39) missense probably damaging 1.00
IGL02192:Hnf1a APN 5 115,098,177 (GRCm39) missense probably damaging 1.00
IGL03053:Hnf1a APN 5 115,108,792 (GRCm39) missense probably benign 0.00
R0522:Hnf1a UTSW 5 115,088,747 (GRCm39) splice site probably benign
R0543:Hnf1a UTSW 5 115,088,803 (GRCm39) missense probably benign
R1498:Hnf1a UTSW 5 115,108,596 (GRCm39) missense probably damaging 1.00
R1827:Hnf1a UTSW 5 115,098,254 (GRCm39) missense probably damaging 1.00
R1852:Hnf1a UTSW 5 115,108,770 (GRCm39) missense probably damaging 1.00
R2408:Hnf1a UTSW 5 115,098,070 (GRCm39) splice site probably null
R2898:Hnf1a UTSW 5 115,098,106 (GRCm39) nonsense probably null
R4050:Hnf1a UTSW 5 115,108,633 (GRCm39) missense probably damaging 1.00
R4627:Hnf1a UTSW 5 115,093,930 (GRCm39) missense probably damaging 1.00
R4859:Hnf1a UTSW 5 115,093,311 (GRCm39) missense possibly damaging 0.84
R4873:Hnf1a UTSW 5 115,108,732 (GRCm39) missense probably benign 0.00
R4875:Hnf1a UTSW 5 115,108,732 (GRCm39) missense probably benign 0.00
R7134:Hnf1a UTSW 5 115,091,446 (GRCm39) missense probably damaging 1.00
R7999:Hnf1a UTSW 5 115,098,233 (GRCm39) nonsense probably null
R8085:Hnf1a UTSW 5 115,108,732 (GRCm39) missense probably benign 0.00
R8093:Hnf1a UTSW 5 115,093,336 (GRCm39) missense probably benign
R8360:Hnf1a UTSW 5 115,091,391 (GRCm39) missense possibly damaging 0.93
R8539:Hnf1a UTSW 5 115,108,576 (GRCm39) critical splice donor site probably null
R9047:Hnf1a UTSW 5 115,088,882 (GRCm39) missense probably benign
X0067:Hnf1a UTSW 5 115,093,539 (GRCm39) missense possibly damaging 0.52
Z1176:Hnf1a UTSW 5 115,088,183 (GRCm39) frame shift probably null
Predicted Primers PCR Primer
(F):5'- AGCACTCAAGGATGCTGAGG -3'
(R):5'- ACAAGATGGCCACCTCAGAG -3'

Sequencing Primer
(F):5'- ATGCTGAGGCCCCCTGAG -3'
(R):5'- TTCACGCATGCTAGGCAAG -3'
Posted On 2018-06-06