Incidental Mutation 'IGL01834:Hes3'
ID 154900
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hes3
Ensembl Gene ENSMUSG00000028946
Gene Name hes family bHLH transcription factor 3
Synonyms bHLHb43
Accession Numbers
Essential gene? Probably non essential (E-score: 0.149) question?
Stock # IGL01834
Quality Score
Status
Chromosome 4
Chromosomal Location 152370429-152376119 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 152371557 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 106 (A106T)
Ref Sequence ENSEMBL: ENSMUSP00000092006 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055754] [ENSMUST00000094438] [ENSMUST00000105650] [ENSMUST00000105651] [ENSMUST00000218045]
AlphaFold Q61657
Predicted Effect probably benign
Transcript: ENSMUST00000055754
SMART Domains Protein: ENSMUSP00000052742
Gene: ENSMUSG00000042804

DomainStartEndE-ValueType
Pfam:7tm_1 24 298 1.2e-14 PFAM
low complexity region 501 518 N/A INTRINSIC
low complexity region 605 617 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000094438
AA Change: A106T

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000092006
Gene: ENSMUSG00000028946
AA Change: A106T

DomainStartEndE-ValueType
HLH 1 55 3.83e-11 SMART
low complexity region 129 148 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000105650
SMART Domains Protein: ENSMUSP00000101275
Gene: ENSMUSG00000042804

DomainStartEndE-ValueType
Pfam:7tm_1 24 297 5.4e-18 PFAM
low complexity region 478 495 N/A INTRINSIC
low complexity region 582 594 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000105651
SMART Domains Protein: ENSMUSP00000101276
Gene: ENSMUSG00000042804

DomainStartEndE-ValueType
Pfam:7tm_1 24 297 5.3e-17 PFAM
low complexity region 501 518 N/A INTRINSIC
low complexity region 605 617 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144035
Predicted Effect possibly damaging
Transcript: ENSMUST00000218045
AA Change: A131T

PolyPhen 2 Score 0.728 (Sensitivity: 0.86; Specificity: 0.92)
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous null mice are fertile and display no obvious abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aox1 A G 1: 58,348,183 (GRCm39) I634V possibly damaging Het
Atp13a4 T G 16: 29,234,595 (GRCm39) probably benign Het
BC049715 A T 6: 136,817,489 (GRCm39) Q243L probably benign Het
C2cd6 G A 1: 59,036,604 (GRCm39) probably benign Het
Cd2ap C T 17: 43,137,251 (GRCm39) probably null Het
Cd2ap T A 17: 43,137,252 (GRCm39) probably null Het
Cd86 G A 16: 36,427,481 (GRCm39) R283W probably benign Het
CK137956 T A 4: 127,840,442 (GRCm39) K421N probably damaging Het
Coro2b G A 9: 62,338,639 (GRCm39) T193I possibly damaging Het
Dido1 G A 2: 180,325,824 (GRCm39) probably benign Het
Fas A G 19: 34,296,003 (GRCm39) T149A probably benign Het
Gbp4 T A 5: 105,273,468 (GRCm39) I121F probably damaging Het
Hyal2 T C 9: 107,448,105 (GRCm39) Y253H probably damaging Het
Kcnt1 T C 2: 25,802,731 (GRCm39) probably null Het
Klhl12 C A 1: 134,417,158 (GRCm39) R557S probably damaging Het
Kmt2c T C 5: 25,600,453 (GRCm39) T315A probably benign Het
Mchr1 A G 15: 81,122,066 (GRCm39) Y272C probably damaging Het
Mroh7 T C 4: 106,538,071 (GRCm39) I1202V probably benign Het
Mrpl38 T A 11: 116,026,140 (GRCm39) K87* probably null Het
Msh6 A G 17: 88,293,140 (GRCm39) T632A probably damaging Het
Myo9b C A 8: 71,807,901 (GRCm39) H1630Q possibly damaging Het
Myo9b T C 8: 71,808,962 (GRCm39) I1767T probably damaging Het
Naprt A G 15: 75,765,648 (GRCm39) F92S probably damaging Het
Nsd3 T A 8: 26,130,668 (GRCm39) I11N probably damaging Het
Or5ae1 A G 7: 84,565,860 (GRCm39) Y291C probably damaging Het
Otof T C 5: 30,556,564 (GRCm39) T306A probably damaging Het
Pcdh18 A G 3: 49,711,279 (GRCm39) F12S probably benign Het
Pcdhb12 A T 18: 37,570,692 (GRCm39) N613Y probably damaging Het
Polr1a T C 6: 71,925,446 (GRCm39) I731T probably benign Het
Ptprd G A 4: 76,046,832 (GRCm39) T465I probably damaging Het
Rabgap1 A G 2: 37,454,773 (GRCm39) probably benign Het
Ryr2 T A 13: 11,610,311 (GRCm39) I607L possibly damaging Het
Slc39a9 G A 12: 80,720,073 (GRCm39) probably benign Het
Srek1 C A 13: 103,885,293 (GRCm39) probably benign Het
Ssb A G 2: 69,701,147 (GRCm39) T377A possibly damaging Het
Sympk G T 7: 18,777,360 (GRCm39) A537S probably benign Het
Tcf20 A G 15: 82,739,898 (GRCm39) S518P probably damaging Het
Ttc39d A G 17: 80,523,475 (GRCm39) K45E probably benign Het
Vmn1r40 T C 6: 89,691,554 (GRCm39) F124L possibly damaging Het
Vmn2r69 A G 7: 85,061,576 (GRCm39) Y133H probably damaging Het
Vmn2r79 A T 7: 86,686,354 (GRCm39) E578D probably benign Het
Vwf G A 6: 125,567,133 (GRCm39) probably benign Het
Zbtb11 A G 16: 55,811,371 (GRCm39) N510D probably benign Het
Other mutations in Hes3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02426:Hes3 APN 4 152,371,397 (GRCm39) missense probably benign 0.01
R4498:Hes3 UTSW 4 152,371,542 (GRCm39) missense probably benign 0.00
R4696:Hes3 UTSW 4 152,372,124 (GRCm39) missense probably damaging 1.00
R4784:Hes3 UTSW 4 152,372,289 (GRCm39) missense probably damaging 1.00
R5042:Hes3 UTSW 4 152,371,500 (GRCm39) missense possibly damaging 0.90
R6874:Hes3 UTSW 4 152,371,695 (GRCm39) missense possibly damaging 0.65
R6993:Hes3 UTSW 4 152,371,380 (GRCm39) missense probably benign
R7157:Hes3 UTSW 4 152,372,581 (GRCm39) start gained probably benign
R8011:Hes3 UTSW 4 152,371,938 (GRCm39) intron probably benign
R8223:Hes3 UTSW 4 152,371,572 (GRCm39) missense probably damaging 1.00
R8738:Hes3 UTSW 4 152,372,132 (GRCm39) missense probably damaging 1.00
R8970:Hes3 UTSW 4 152,376,036 (GRCm39) critical splice donor site probably null
Posted On 2014-02-04