Incidental Mutation 'IGL03053:Hnf1a'
ID409147
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hnf1a
Ensembl Gene ENSMUSG00000029556
Gene NameHNF1 homeobox A
SynonymsHnf1alpha, HNF1-alpha, Tcf1, LFB1, hepatocyte nuclear factor 1, HNF1[a], HNF1, Hnf-1
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.888) question?
Stock #IGL03053
Quality Score
Status
Chromosome5
Chromosomal Location114948980-114971094 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 114970733 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Leucine at position 38 (M38L)
Ref Sequence ENSEMBL: ENSMUSP00000135539 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031535] [ENSMUST00000176550] [ENSMUST00000176911]
Predicted Effect probably benign
Transcript: ENSMUST00000031535
AA Change: M38L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000031535
Gene: ENSMUSG00000029556
AA Change: M38L

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 noncoding transcript
Transcript: ENSMUST00000125010
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129609
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131845
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138108
Predicted Effect probably benign
Transcript: ENSMUST00000176550
AA Change: M38L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000135678
Gene: ENSMUSG00000029556
AA Change: M38L

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
AA Change: M38L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000135539
Gene: ENSMUSG00000029556
AA Change: M38L

DomainStartEndE-ValueType
Pfam:HNF-1_N 1 118 6.4e-32 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184027
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202592
Coding Region Coverage
Validation Efficiency
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot11 G A 4: 106,755,853 Q342* probably null Het
Arglu1 T A 8: 8,683,960 I119L probably benign Het
Atp1a2 G A 1: 172,278,356 T914I probably damaging Het
Birc6 C T 17: 74,565,972 R409C probably damaging Het
Brwd1 A T 16: 96,017,677 S1318R possibly damaging Het
C1qtnf12 A T 4: 155,966,464 N297Y probably damaging Het
Cbwd1 T A 19: 24,955,377 E97D probably damaging Het
Cyp2a4 A T 7: 26,313,550 probably benign Het
Cyp2j7 C T 4: 96,230,037 M106I probably benign Het
Dis3 A G 14: 99,098,734 V112A probably benign Het
Ehd3 A G 17: 73,805,442 Y67C probably damaging Het
Elavl4 A T 4: 110,251,494 S16T possibly damaging Het
F2rl1 A C 13: 95,513,618 V252G probably benign Het
Fggy A T 4: 95,926,809 probably benign Het
Hc G T 2: 35,024,198 N832K probably benign Het
Kif13a T C 13: 46,752,088 N793S probably benign Het
Kit A G 5: 75,610,914 N244D probably benign Het
Mb21d1 A T 9: 78,437,437 F234Y probably benign Het
Mgat5b A G 11: 116,923,450 E60G possibly damaging Het
Obsl1 T C 1: 75,493,079 H1098R probably benign Het
Olfr1094 A G 2: 86,829,263 I170M possibly damaging Het
Olfr1178 A G 2: 88,391,594 M116V probably damaging Het
Olfr1230 A C 2: 89,296,445 I275S probably damaging Het
Olfr138 A C 17: 38,274,791 S7R probably damaging Het
Olfr166 A T 16: 19,487,219 H127L probably benign Het
Olfr198 A G 16: 59,202,247 Y60H probably damaging Het
Olfr215 T C 6: 116,582,245 R234G possibly damaging Het
Pitpnm2 A G 5: 124,143,601 I42T probably damaging Het
Prkd2 A G 7: 16,850,263 D347G possibly damaging Het
Prkdc A G 16: 15,834,166 I3806V probably benign Het
Rasgrp2 T C 19: 6,407,332 probably benign Het
Rc3h1 T A 1: 160,955,817 D734E probably benign Het
Rtel1 A G 2: 181,351,944 K619E probably benign Het
Tnfrsf26 T C 7: 143,614,860 D147G possibly damaging Het
Ufl1 A G 4: 25,275,833 I110T probably damaging Het
Ugt2b36 A G 5: 87,092,074 S151P possibly damaging Het
Vmn2r25 T C 6: 123,823,118 Y755C probably damaging Het
Zfhx3 T C 8: 108,946,500 V1394A probably damaging Het
Zzef1 G T 11: 72,831,539 probably benign Het
Other mutations in Hnf1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01798:Hnf1a APN 5 114953673 missense probably damaging 1.00
IGL02192:Hnf1a APN 5 114960118 missense probably damaging 1.00
R0522:Hnf1a UTSW 5 114950688 splice site probably benign
R0543:Hnf1a UTSW 5 114950744 missense probably benign
R1498:Hnf1a UTSW 5 114970537 missense probably damaging 1.00
R1827:Hnf1a UTSW 5 114960195 missense probably damaging 1.00
R1852:Hnf1a UTSW 5 114970711 missense probably damaging 1.00
R2408:Hnf1a UTSW 5 114960011 splice site probably null
R2898:Hnf1a UTSW 5 114960047 nonsense probably null
R4050:Hnf1a UTSW 5 114970574 missense probably damaging 1.00
R4627:Hnf1a UTSW 5 114955871 missense probably damaging 1.00
R4859:Hnf1a UTSW 5 114955252 missense possibly damaging 0.84
R4873:Hnf1a UTSW 5 114970673 missense probably benign 0.00
R4875:Hnf1a UTSW 5 114970673 missense probably benign 0.00
R6488:Hnf1a UTSW 5 114955961 missense probably benign
R7134:Hnf1a UTSW 5 114953387 missense probably damaging 1.00
R7999:Hnf1a UTSW 5 114960174 nonsense probably null
R8085:Hnf1a UTSW 5 114970673 missense probably benign 0.00
R8093:Hnf1a UTSW 5 114955277 missense probably benign
R8360:Hnf1a UTSW 5 114953332 missense possibly damaging 0.93
R8539:Hnf1a UTSW 5 114970517 critical splice donor site probably null
X0067:Hnf1a UTSW 5 114955480 missense possibly damaging 0.52
Z1176:Hnf1a UTSW 5 114950124 frame shift probably null
Posted On2016-08-02