Incidental Mutation 'R3923:Hdgf'
ID 307021
Institutional Source Beutler Lab
Gene Symbol Hdgf
Ensembl Gene ENSMUSG00000004897
Gene Name heparin binding growth factor
Synonyms D3Ertd299e
MMRRC Submission 040820-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3923 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 87813844-87823439 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 87821535 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 128 (D128E)
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: D160E

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000005017
Gene: ENSMUSG00000004897
AA Change: D160E

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 probably benign
Transcript: ENSMUST00000159492
AA Change: D128E

PolyPhen 2 Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000124803
Gene: ENSMUSG00000004897
AA Change: D128E

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
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.3%
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam22 T C 5: 8,180,514 (GRCm39) M528V possibly damaging Het
Ano3 T A 2: 110,601,304 (GRCm39) Y318F probably damaging Het
Asic4 T A 1: 75,427,871 (GRCm39) D132E probably damaging Het
Atp2b2 A G 6: 113,774,069 (GRCm39) probably null Het
Cast T C 13: 74,876,532 (GRCm39) E447G probably damaging Het
Ccdc110 T C 8: 46,395,426 (GRCm39) I439T probably damaging Het
Ccdc50 A T 16: 27,263,294 (GRCm39) R264S probably damaging Het
Cdhr18 T A 14: 13,865,990 (GRCm38) K300* probably null Het
Chd9 T A 8: 91,660,147 (GRCm39) V369E probably benign Het
Cnnm1 A G 19: 43,428,884 (GRCm39) M1V probably null Het
Col4a1 T A 8: 11,251,665 (GRCm39) probably benign Het
Crtac1 A G 19: 42,322,386 (GRCm39) V118A probably damaging Het
Ddx59 T A 1: 136,344,482 (GRCm39) V51D probably benign Het
Dipk1c A T 18: 84,748,812 (GRCm39) T137S probably damaging Het
Dtd2 G C 12: 52,051,734 (GRCm39) probably null Het
Ehmt1 A T 2: 24,774,347 (GRCm39) probably null Het
Emc1 T A 4: 139,090,496 (GRCm39) L412* probably null Het
Ep400 T C 5: 110,904,389 (GRCm39) N70S possibly damaging Het
Ercc6l2 T C 13: 64,018,549 (GRCm39) probably benign Het
Fry T C 5: 150,336,814 (GRCm39) V1395A probably benign Het
Gps1 A G 11: 120,677,259 (GRCm39) N186S possibly damaging Het
Hipk3 A G 2: 104,301,107 (GRCm39) S362P probably damaging Het
Hypk C A 2: 121,288,683 (GRCm39) H116Q possibly damaging Het
Ifna9 T A 4: 88,510,508 (GRCm39) T39S possibly damaging Het
Itgae A C 11: 73,006,969 (GRCm39) D405A probably damaging Het
Itprid1 T C 6: 55,945,045 (GRCm39) S589P probably benign Het
Kdm5a T C 6: 120,358,625 (GRCm39) S223P probably benign Het
Kif21a C T 15: 90,821,497 (GRCm39) S1432N possibly damaging Het
Klhl1 A T 14: 96,584,316 (GRCm39) C305S possibly damaging Het
Lrrn2 A G 1: 132,866,230 (GRCm39) S432G probably benign Het
Mlana T A 19: 29,682,098 (GRCm39) S50R probably damaging Het
Mycbp2 A T 14: 103,364,149 (GRCm39) H4383Q probably damaging Het
Ncor1 A G 11: 62,216,442 (GRCm39) S1469P probably damaging Het
Nol6 G T 4: 41,121,531 (GRCm39) F270L probably benign Het
Nr2c2 T A 6: 92,137,382 (GRCm39) M431K probably damaging Het
Nrap T C 19: 56,368,688 (GRCm39) I243V probably damaging Het
Obscn T C 11: 58,951,754 (GRCm39) I4297V possibly damaging Het
Onecut2 A G 18: 64,474,591 (GRCm39) K381E probably damaging Het
Or52n1 T A 7: 104,383,396 (GRCm39) E58D probably benign Het
Or8k23 T C 2: 86,186,205 (GRCm39) I174V probably benign Het
Palb2 A T 7: 121,716,583 (GRCm39) probably null Het
Plod1 T C 4: 148,000,280 (GRCm39) K260E possibly damaging Het
Rgsl1 T C 1: 153,679,876 (GRCm39) probably null Het
Rpe65 T A 3: 159,310,037 (GRCm39) F103L probably benign Het
Ryr3 C T 2: 112,672,218 (GRCm39) A1438T possibly damaging Het
Slc17a3 G A 13: 24,042,037 (GRCm39) V402M possibly damaging Het
Slc19a3 A T 1: 83,000,678 (GRCm39) F113Y probably damaging Het
Snph C T 2: 151,435,431 (GRCm39) C430Y probably damaging Het
Tarbp1 T C 8: 127,167,510 (GRCm39) I1101V probably benign Het
Tatdn1 G A 15: 58,793,020 (GRCm39) L120F possibly damaging Het
Trav3-3 A G 14: 53,903,828 (GRCm39) K49E probably benign Het
Trpv5 T C 6: 41,630,183 (GRCm39) T636A probably benign Het
Ube2l6 A G 2: 84,639,418 (GRCm39) D127G possibly damaging Het
Usp33 T A 3: 152,080,428 (GRCm39) probably null Het
Usp53 A T 3: 122,727,954 (GRCm39) F876Y probably benign Het
Utrn A T 10: 12,615,223 (GRCm39) I316K probably benign Het
Zfp106 G T 2: 120,365,337 (GRCm39) Q357K probably damaging Het
Zfp143 T C 7: 109,673,398 (GRCm39) V138A probably damaging Het
Zfp451 T C 1: 33,818,126 (GRCm39) R118G probably null 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
IGL03189:Hdgf APN 3 87,820,735 (GRCm39) missense possibly damaging 0.80
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
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
Predicted Primers PCR Primer
(F):5'- TGATGTCTCCACCACAGTCC -3'
(R):5'- CTGACTCCTTGGGACGTTTAGG -3'

Sequencing Primer
(F):5'- GTCCTCCCAGAAAAAGAGTTGTGC -3'
(R):5'- GCTAGAGACAGAACATTAATAGCTC -3'
Posted On 2015-04-17