Incidental Mutation 'IGL03189:Hdgf'
ID412587
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hdgf
Ensembl Gene ENSMUSG00000004897
Gene Namehepatoma-derived growth factor
SynonymsD3Ertd299e
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03189
Quality Score
Status
Chromosome3
Chromosomal Location87906321-87916132 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 87913428 bp
ZygosityHeterozygous
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]
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
4930412O13Rik A G 2: 9,883,823 probably benign Het
Abcb1b A G 5: 8,845,814 T916A probably benign Het
Adam22 A T 5: 8,111,897 Y50* probably null Het
Adprhl2 T C 4: 126,317,294 probably benign Het
Ahnak G A 19: 9,011,239 V3296M possibly damaging Het
Bfar A G 16: 13,687,501 D125G possibly damaging Het
Bmp3 A T 5: 98,872,720 Q334L probably benign Het
Camsap2 A T 1: 136,281,662 D697E probably damaging Het
Car11 A G 7: 45,702,455 T103A probably damaging Het
Cecr2 T A 6: 120,762,430 S1373T probably benign Het
Cenpm A G 15: 82,234,433 V160A possibly damaging Het
Chl1 A T 6: 103,683,207 I365F possibly damaging Het
Col20a1 C T 2: 181,009,407 Q1089* probably null Het
Csf1r A T 18: 61,105,986 T13S probably benign Het
Fam13a T C 6: 58,956,858 E249G probably damaging Het
Fgd6 G A 10: 94,044,456 V391I probably benign Het
Fhdc1 G A 3: 84,455,061 probably benign Het
Fn3krp T C 11: 121,429,630 I267T probably damaging Het
Fras1 A T 5: 96,743,071 I2820F probably benign Het
Fyb2 A G 4: 105,015,742 I771V probably damaging Het
Glis1 A G 4: 107,615,051 Y275C probably damaging Het
Hsd17b3 C T 13: 64,063,087 probably null Het
Iqgap1 T A 7: 80,713,842 Y1655F probably benign Het
Izumo1 A G 7: 45,625,164 D181G probably damaging Het
Lrp2 T C 2: 69,438,478 probably benign Het
Mark1 T C 1: 184,919,693 N95S probably damaging Het
Mbd5 A G 2: 49,257,751 K658E probably damaging Het
Mcm6 C T 1: 128,344,302 D453N probably damaging Het
Mfsd14a T C 3: 116,641,855 D187G probably benign Het
Mrpl19 G T 6: 81,961,993 S276* probably null Het
Ncoa2 G A 1: 13,190,136 T105M probably damaging Het
Nop14 A G 5: 34,650,628 probably benign Het
Olfr1018 A G 2: 85,823,558 T196A probably benign Het
Olfr1152 G A 2: 87,868,215 A75T possibly damaging Het
Olfr170 T C 16: 19,606,591 T26A probably benign Het
Otud7b G A 3: 96,155,478 S678N probably benign Het
Pcdhb6 G A 18: 37,336,152 V25M probably damaging Het
Prpf39 G T 12: 65,043,302 G5* probably null Het
Serpinb9d T C 13: 33,202,912 V321A probably damaging Het
Sh2b1 A G 7: 126,468,530 S613P possibly damaging Het
Snx30 T C 4: 59,857,452 I55T probably benign Het
Spata13 T C 14: 60,691,614 I207T possibly damaging Het
Suco T C 1: 161,857,337 probably benign Het
Svs2 A G 2: 164,237,112 S292P possibly damaging Het
Tcam1 A G 11: 106,285,386 I313V probably benign Het
Tmem45a A T 16: 56,811,573 Y227* probably null Het
Tnfsf15 A G 4: 63,730,052 probably benign Het
Ttc26 C T 6: 38,425,231 P553S probably benign Het
Vmn2r4 C A 3: 64,389,168 R732L possibly damaging Het
Wdr7 C T 18: 63,760,601 T602I probably benign Het
Other mutations in Hdgf
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01462:Hdgf APN 3 87914524 missense possibly damaging 0.93
IGL02437:Hdgf APN 3 87914485 missense probably damaging 1.00
R0142:Hdgf UTSW 3 87913109 missense possibly damaging 0.68
R1604:Hdgf UTSW 3 87914040 splice site probably null
R3726:Hdgf UTSW 3 87914497 missense probably benign 0.19
R3923:Hdgf UTSW 3 87914228 missense probably benign 0.11
R4620:Hdgf UTSW 3 87914576 missense possibly damaging 0.81
R4622:Hdgf UTSW 3 87914577 missense possibly damaging 0.53
R7562:Hdgf UTSW 3 87906686 missense possibly damaging 0.89
Posted On2016-08-02