Incidental Mutation 'IGL02437:Hdgf'
ID293341
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 #IGL02437
Quality Score
Status
Chromosome3
Chromosomal Location87906321-87916132 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 87914485 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Cysteine at position 168 (R168C)
Ref Sequence ENSEMBL: ENSMUSP00000005017 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005017] [ENSMUST00000159492] [ENSMUST00000162631]
Predicted Effect probably damaging
Transcript: ENSMUST00000005017
AA Change: R168C

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000005017
Gene: ENSMUSG00000004897
AA Change: R168C

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: R136C

PolyPhen 2 Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000124803
Gene: ENSMUSG00000004897
AA Change: R136C

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 probably benign
Transcript: ENSMUST00000162631
SMART Domains Protein: ENSMUSP00000123832
Gene: ENSMUSG00000004897

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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik A G 5: 99,229,377 S404P probably damaging Het
A930011G23Rik G A 5: 99,229,382 P402L probably damaging Het
Abca16 T G 7: 120,533,729 C1294G probably benign Het
Abca7 T A 10: 80,008,389 S1410T probably damaging Het
Abhd12 T C 2: 150,834,369 D356G probably benign Het
BC004004 T C 17: 29,298,697 L295P probably damaging Het
Bpifc T C 10: 85,988,731 S215G probably damaging Het
Bptf C T 11: 107,074,695 M1109I probably benign Het
Brat1 C T 5: 140,712,808 A245V possibly damaging Het
Cask G A X: 13,537,621 T16I probably damaging Het
Clic6 A T 16: 92,530,929 I541F probably damaging Het
Clnk C T 5: 38,774,566 probably null Het
Cntnap1 T A 11: 101,186,851 I1113N probably damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Cyp26a1 T C 19: 37,698,495 S132P probably benign Het
Cyp4f13 G T 17: 32,930,608 H85N probably benign Het
Dcaf15 C T 8: 84,101,816 G215D probably damaging Het
Dip2a T C 10: 76,298,267 T500A probably benign Het
Fam92b T C 8: 120,174,786 E60G probably damaging Het
Gbe1 T A 16: 70,434,658 probably benign Het
Gli2 T A 1: 118,836,003 I1473F probably damaging Het
Gm5129 A T 5: 29,735,863 probably benign Het
Heph A G X: 96,473,027 T342A probably benign Het
Kdelr3 T C 15: 79,525,787 Y158H probably damaging Het
Lamb3 C T 1: 193,327,945 R289C probably damaging Het
Leng8 C T 7: 4,142,093 A164V probably damaging Het
Ltn1 T C 16: 87,398,001 T1337A probably benign Het
Mast3 C A 8: 70,780,558 R316L possibly damaging Het
Nampt A G 12: 32,830,216 Y36C probably damaging Het
Ncapd3 T A 9: 27,063,968 probably benign Het
Nipbl T C 15: 8,359,074 D354G probably damaging Het
Nsd1 A T 13: 55,313,441 R2494W probably damaging Het
Nt5c1a A G 4: 123,214,241 N239S probably benign Het
Ogfr A G 2: 180,589,536 E19G possibly damaging Het
Olfr48 A G 2: 89,844,784 L63P probably damaging Het
Olfr747 A T 14: 50,681,200 S145T probably benign Het
Pcna A T 2: 132,251,235 probably benign Het
Pdia3 T A 2: 121,433,648 V326E probably damaging Het
Phf8 T A X: 151,631,360 L1002Q possibly damaging Het
Rhobtb2 T C 14: 69,795,916 E535G probably damaging Het
Rusc2 G T 4: 43,415,545 D284Y probably damaging Het
Samd8 A G 14: 21,775,423 Y212C probably benign Het
Sash3 C A X: 48,158,795 Q169K probably benign Het
Scyl1 C T 19: 5,766,196 G324S probably damaging Het
Sec62 G A 3: 30,818,847 G360R unknown Het
Sis T C 3: 72,919,614 probably null Het
Slc6a1 T A 6: 114,308,617 I338N probably damaging Het
Snrnp200 A G 2: 127,216,110 D264G probably damaging Het
Tgm3 G T 2: 130,030,041 probably null Het
Tmem2 T C 19: 21,811,978 probably null Het
Tnrc6b T G 15: 80,880,457 L720R probably damaging Het
Tspyl4 A T 10: 34,298,232 Q240L probably damaging Het
Tube1 G A 10: 39,140,850 V80I probably damaging Het
Uap1l1 C T 2: 25,363,933 V304M probably damaging Het
Wtap T C 17: 12,967,733 N309S probably benign Het
Zfp518a G A 19: 40,914,617 G997R probably damaging Het
Zfyve26 T C 12: 79,268,847 D1285G probably benign Het
Zscan20 G A 4: 128,588,417 T484I probably damaging Het
Other mutations in Hdgf
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01462:Hdgf APN 3 87914524 missense possibly damaging 0.93
IGL03189:Hdgf APN 3 87913428 missense possibly damaging 0.80
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 On2015-04-16