Incidental Mutation 'IGL03189:Hdgf'
ID 412587
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hdgf
Ensembl Gene ENSMUSG00000004897
Gene Name heparin binding growth factor
Synonyms D3Ertd299e
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03189
Quality Score
Status
Chromosome 3
Chromosomal Location 87813844-87823439 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 87820735 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 62 (T62A)
Ref Sequence ENSEMBL: ENSMUSP00000124803 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005017] [ENSMUST00000159492] [ENSMUST00000162631]
AlphaFold P51859
Predicted Effect probably benign
Transcript: ENSMUST00000005017
AA Change: T94A

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000005017
Gene: ENSMUSG00000004897
AA Change: T94A

DomainStartEndE-ValueType
PWWP 10 67 4.54e-26 SMART
low complexity region 109 120 N/A INTRINSIC
low complexity region 212 228 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000159492
AA Change: T62A

PolyPhen 2 Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000124803
Gene: ENSMUSG00000004897
AA Change: T62A

DomainStartEndE-ValueType
Pfam:PWWP 2 60 1.2e-9 PFAM
low complexity region 77 88 N/A INTRINSIC
low complexity region 180 196 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160198
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160312
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161616
Predicted Effect possibly damaging
Transcript: ENSMUST00000162631
AA Change: T62A

PolyPhen 2 Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000123832
Gene: ENSMUSG00000004897
AA Change: T62A

DomainStartEndE-ValueType
Pfam:PWWP 1 60 2.3e-10 PFAM
Coding Region Coverage
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 hepatoma-derived growth factor family. The encoded protein has mitogenic and DNA-binding activity and may play a role in cellular proliferation and differentiation. High levels of expression of this gene enhance the growth of many tumors. This gene was thought initially to be located on chromosome X; however, that location has been determined to correspond to a related pseudogene. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice homozygous for a targeted disruption of this gene are viable and fertile and display no major morphological, biochemical or behavioral phenotypes except for a significant reduction in rearing activity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b A G 5: 8,895,814 (GRCm39) T916A probably benign Het
Adam22 A T 5: 8,161,897 (GRCm39) Y50* probably null Het
Adprs T C 4: 126,211,087 (GRCm39) probably benign Het
Ahnak G A 19: 8,988,603 (GRCm39) V3296M possibly damaging Het
Bfar A G 16: 13,505,365 (GRCm39) D125G possibly damaging Het
Bmp3 A T 5: 99,020,579 (GRCm39) Q334L probably benign Het
Camsap2 A T 1: 136,209,400 (GRCm39) D697E probably damaging Het
Car11 A G 7: 45,351,879 (GRCm39) T103A probably damaging Het
Cecr2 T A 6: 120,739,391 (GRCm39) S1373T probably benign Het
Cenpm A G 15: 82,118,634 (GRCm39) V160A possibly damaging Het
Chl1 A T 6: 103,660,168 (GRCm39) I365F possibly damaging Het
Col20a1 C T 2: 180,651,200 (GRCm39) Q1089* probably null Het
Csf1r A T 18: 61,239,058 (GRCm39) T13S probably benign Het
Fam13a T C 6: 58,933,843 (GRCm39) E249G probably damaging Het
Fgd6 G A 10: 93,880,318 (GRCm39) V391I probably benign Het
Fhdc1 G A 3: 84,362,368 (GRCm39) probably benign Het
Fn3krp T C 11: 121,320,456 (GRCm39) I267T probably damaging Het
Fras1 A T 5: 96,890,930 (GRCm39) I2820F probably benign Het
Fyb2 A G 4: 104,872,939 (GRCm39) I771V probably damaging Het
Gata3os A G 2: 9,888,634 (GRCm39) probably benign Het
Glis1 A G 4: 107,472,248 (GRCm39) Y275C probably damaging Het
Hsd17b3 C T 13: 64,210,901 (GRCm39) probably null Het
Ift56 C T 6: 38,402,166 (GRCm39) P553S probably benign Het
Iqgap1 T A 7: 80,363,590 (GRCm39) Y1655F probably benign Het
Izumo1 A G 7: 45,274,588 (GRCm39) D181G probably damaging Het
Lrp2 T C 2: 69,268,822 (GRCm39) probably benign Het
Mark1 T C 1: 184,651,890 (GRCm39) N95S probably damaging Het
Mbd5 A G 2: 49,147,763 (GRCm39) K658E probably damaging Het
Mcm6 C T 1: 128,272,039 (GRCm39) D453N probably damaging Het
Mfsd14a T C 3: 116,435,504 (GRCm39) D187G probably benign Het
Mrpl19 G T 6: 81,938,974 (GRCm39) S276* probably null Het
Ncoa2 G A 1: 13,260,360 (GRCm39) T105M probably damaging Het
Nop14 A G 5: 34,807,972 (GRCm39) probably benign Het
Or2ah1 A G 2: 85,653,902 (GRCm39) T196A probably benign Het
Or2aj5 T C 16: 19,425,341 (GRCm39) T26A probably benign Het
Or5w19 G A 2: 87,698,559 (GRCm39) A75T possibly damaging Het
Otud7b G A 3: 96,062,795 (GRCm39) S678N probably benign Het
Pcdhb6 G A 18: 37,469,205 (GRCm39) V25M probably damaging Het
Prpf39 G T 12: 65,090,076 (GRCm39) G5* probably null Het
Serpinb9d T C 13: 33,386,895 (GRCm39) V321A probably damaging Het
Sh2b1 A G 7: 126,067,702 (GRCm39) S613P possibly damaging Het
Snx30 T C 4: 59,857,452 (GRCm39) I55T probably benign Het
Spata13 T C 14: 60,929,063 (GRCm39) I207T possibly damaging Het
Suco T C 1: 161,684,906 (GRCm39) probably benign Het
Svs5 A G 2: 164,079,032 (GRCm39) S292P possibly damaging Het
Tcam1 A G 11: 106,176,212 (GRCm39) I313V probably benign Het
Tmem45a A T 16: 56,631,936 (GRCm39) Y227* probably null Het
Tnfsf15 A G 4: 63,648,289 (GRCm39) probably benign Het
Vmn2r4 C A 3: 64,296,589 (GRCm39) R732L possibly damaging Het
Wdr7 C T 18: 63,893,672 (GRCm39) T602I probably benign Het
Other mutations in Hdgf
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01462:Hdgf APN 3 87,821,831 (GRCm39) missense possibly damaging 0.93
IGL02437:Hdgf APN 3 87,821,792 (GRCm39) missense probably damaging 1.00
R0142:Hdgf UTSW 3 87,820,416 (GRCm39) missense possibly damaging 0.68
R1604:Hdgf UTSW 3 87,821,347 (GRCm39) splice site probably null
R3726:Hdgf UTSW 3 87,821,804 (GRCm39) missense probably benign 0.19
R3923:Hdgf UTSW 3 87,821,535 (GRCm39) missense probably benign 0.11
R4620:Hdgf UTSW 3 87,821,883 (GRCm39) missense possibly damaging 0.81
R4622:Hdgf UTSW 3 87,821,884 (GRCm39) missense possibly damaging 0.53
R7562:Hdgf UTSW 3 87,813,993 (GRCm39) missense possibly damaging 0.89
Posted On 2016-08-02