Incidental Mutation 'R8415:Hdgfl2'
ID 652918
Institutional Source Beutler Lab
Gene Symbol Hdgfl2
Ensembl Gene ENSMUSG00000002833
Gene Name HDGF like 2
Synonyms HRP-2, Hdgfrp2
MMRRC Submission 067769-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.146) question?
Stock # R8415 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 56386634-56407607 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 56400712 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 160 (P160L)
Ref Sequence ENSEMBL: ENSMUSP00000002911 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002911] [ENSMUST00000225843] [ENSMUST00000226053]
AlphaFold Q3UMU9
Predicted Effect probably benign
Transcript: ENSMUST00000002911
AA Change: P160L

PolyPhen 2 Score 0.186 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000002911
Gene: ENSMUSG00000002833
AA Change: P160L

DomainStartEndE-ValueType
PWWP 5 62 1.78e-19 SMART
low complexity region 90 109 N/A INTRINSIC
low complexity region 127 136 N/A INTRINSIC
low complexity region 137 153 N/A INTRINSIC
low complexity region 163 175 N/A INTRINSIC
low complexity region 181 196 N/A INTRINSIC
low complexity region 212 243 N/A INTRINSIC
low complexity region 252 272 N/A INTRINSIC
low complexity region 273 300 N/A INTRINSIC
low complexity region 301 311 N/A INTRINSIC
coiled coil region 321 364 N/A INTRINSIC
low complexity region 398 411 N/A INTRINSIC
Pfam:LEDGF 468 569 2.8e-31 PFAM
internal_repeat_1 575 644 2.5e-5 PROSPERO
Predicted Effect probably benign
Transcript: ENSMUST00000225843
AA Change: P160L

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect probably benign
Transcript: ENSMUST00000226053
AA Change: P160L

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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 (HDGF) family. The protein includes an N-terminal PWWP domain that binds to methyl-lysine-containing histones, with specific binding of this protein to tri-methylated lysines 36 and 79 of histone H3, and di- and tri-methylated lysine 20 of histone H4. The protein functions in LEDGF/p75-independent HIV-1 replication by determining HIV-1 integration site selection. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2014]
PHENOTYPE: Homozygous mice exhibit an increased mean serum alkaline phosphatase level compared to controls. Female mutants exhibited a decreased mean skin fibroblast proliferation rate. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd24 A G 10: 81,475,947 (GRCm39) H317R unknown Het
Aox1 A T 1: 58,080,638 (GRCm39) Y29F probably damaging Het
Bnip2 T C 9: 69,910,967 (GRCm39) F304S possibly damaging Het
Bsn G A 9: 107,988,651 (GRCm39) A2367V probably benign Het
Ccdc18 T A 5: 108,363,899 (GRCm39) V1198E probably damaging Het
Cnot3 T C 7: 3,661,687 (GRCm39) F660L probably benign Het
Cntnap3 A G 13: 64,886,479 (GRCm39) I1249T probably benign Het
Ctnna3 A G 10: 63,339,909 (GRCm39) I32V probably benign Het
Dgkz A T 2: 91,770,649 (GRCm39) S485T possibly damaging Het
Dnaaf6rt A G 1: 31,262,564 (GRCm39) N182S probably benign Het
Dpagt1 C A 9: 44,238,482 (GRCm39) N49K possibly damaging Het
Dsg3 A T 18: 20,656,765 (GRCm39) S212C probably damaging Het
Epb41l1 C T 2: 156,368,873 (GRCm39) A714V probably benign Het
Eppk1 A G 15: 75,995,831 (GRCm39) V350A probably benign Het
Frem1 T G 4: 82,918,499 (GRCm39) D481A probably damaging Het
Git2 T C 5: 114,871,989 (GRCm39) K532E possibly damaging Het
Glyr1 T C 16: 4,854,329 (GRCm39) H102R probably benign Het
Hivep1 T C 13: 42,308,905 (GRCm39) S382P probably benign Het
Hmcn2 C A 2: 31,281,088 (GRCm39) L1867I probably benign Het
Hydin G A 8: 111,178,626 (GRCm39) G1074R probably damaging Het
Ift140 A G 17: 25,311,889 (GRCm39) I1271V probably damaging Het
Krt28 T A 11: 99,265,626 (GRCm39) I14L probably benign Het
Lrtm2 A T 6: 119,294,458 (GRCm39) D224E probably damaging Het
Map1s G A 8: 71,365,910 (GRCm39) V272M probably damaging Het
Mast3 A G 8: 71,233,866 (GRCm39) Y960H probably damaging Het
Mettl25 G T 10: 105,662,002 (GRCm39) Q323K probably benign Het
Mlh3 A T 12: 85,315,854 (GRCm39) S111T probably benign Het
Muc17 A G 5: 137,172,798 (GRCm39) L85P Het
Myh6 C G 14: 55,181,835 (GRCm39) R1822P probably damaging Het
Myof C T 19: 37,983,872 (GRCm39) G144E probably benign Het
Nat8f2 A G 6: 85,845,024 (GRCm39) S113P probably damaging Het
Nlrp9a A T 7: 26,256,925 (GRCm39) Y181F probably benign Het
Nup85 A G 11: 115,457,468 (GRCm39) I57V probably benign Het
Or4c99 T A 2: 88,329,710 (GRCm39) C94S probably damaging Het
Or5p79 C T 7: 108,221,163 (GRCm39) T48I probably damaging Het
Or7e170 T A 9: 19,795,409 (GRCm39) Y64F possibly damaging Het
Pcdhb2 A G 18: 37,429,110 (GRCm39) N361S probably damaging Het
Peg10 T TCCA 6: 4,756,451 (GRCm39) probably benign Het
Phf20 C T 2: 156,129,913 (GRCm39) T495M probably benign Het
Pitpnm1 T C 19: 4,155,454 (GRCm39) M368T probably benign Het
Pter A G 2: 13,005,700 (GRCm39) D291G probably damaging Het
Rasgrp2 T G 19: 6,454,781 (GRCm39) V207G probably damaging Het
Rnd2 A T 11: 101,362,011 (GRCm39) Q188L probably benign Het
Sh3d19 T A 3: 85,992,363 (GRCm39) D130E probably benign Het
Slc7a2 A T 8: 41,369,396 (GRCm39) Y617F probably damaging Het
Snx29 T C 16: 11,265,291 (GRCm39) L165P probably damaging Het
St7 T C 6: 17,848,080 (GRCm39) probably null Het
Tas2r115 A G 6: 132,714,798 (GRCm39) L51P probably damaging Het
Tead1 C A 7: 112,456,135 (GRCm39) P164Q probably benign Het
Thop1 A G 10: 80,914,385 (GRCm39) Y224C probably damaging Het
Twf1 T C 15: 94,477,702 (GRCm39) *351W probably null Het
Uck1 C A 2: 32,150,153 (GRCm39) probably benign Het
Utp20 A G 10: 88,662,466 (GRCm39) probably null Het
Vmn2r118 G T 17: 55,915,057 (GRCm39) L530I probably benign Het
Vmn2r30 A T 7: 7,315,359 (GRCm39) C825S probably damaging Het
Vps13d A T 4: 144,818,549 (GRCm39) M3106K Het
Wfdc15a A T 2: 164,041,671 (GRCm39) C51S probably damaging Het
Zc3hc1 T C 6: 30,375,951 (GRCm39) D203G probably damaging Het
Zfhx2 G T 14: 55,308,079 (GRCm39) D932E probably benign Het
Zfp267 G A 3: 36,219,182 (GRCm39) G402S probably damaging Het
Other mutations in Hdgfl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01446:Hdgfl2 APN 17 56,404,281 (GRCm39) missense possibly damaging 0.94
IGL01486:Hdgfl2 APN 17 56,405,733 (GRCm39) missense possibly damaging 0.84
IGL02977:Hdgfl2 APN 17 56,406,319 (GRCm39) missense possibly damaging 0.71
IGL03196:Hdgfl2 APN 17 56,400,607 (GRCm39) missense probably benign 0.40
IGL03368:Hdgfl2 APN 17 56,386,746 (GRCm39) utr 5 prime probably benign
R0325:Hdgfl2 UTSW 17 56,406,181 (GRCm39) missense possibly damaging 0.95
R0635:Hdgfl2 UTSW 17 56,403,057 (GRCm39) missense probably damaging 0.99
R1914:Hdgfl2 UTSW 17 56,403,978 (GRCm39) missense probably damaging 1.00
R1927:Hdgfl2 UTSW 17 56,406,874 (GRCm39) missense possibly damaging 0.92
R2157:Hdgfl2 UTSW 17 56,405,691 (GRCm39) missense possibly damaging 0.46
R2337:Hdgfl2 UTSW 17 56,403,987 (GRCm39) missense possibly damaging 0.46
R4884:Hdgfl2 UTSW 17 56,403,265 (GRCm39) missense possibly damaging 0.91
R5093:Hdgfl2 UTSW 17 56,406,217 (GRCm39) missense possibly damaging 0.92
R5510:Hdgfl2 UTSW 17 56,389,118 (GRCm39) missense possibly damaging 0.77
R6862:Hdgfl2 UTSW 17 56,406,211 (GRCm39) missense probably damaging 0.97
R7180:Hdgfl2 UTSW 17 56,404,532 (GRCm39) splice site probably null
R7389:Hdgfl2 UTSW 17 56,406,389 (GRCm39) critical splice donor site probably null
R7564:Hdgfl2 UTSW 17 56,406,860 (GRCm39) missense unknown
R7921:Hdgfl2 UTSW 17 56,400,724 (GRCm39) critical splice donor site probably null
R8168:Hdgfl2 UTSW 17 56,389,282 (GRCm39) missense probably damaging 0.98
R8348:Hdgfl2 UTSW 17 56,406,370 (GRCm39) missense possibly damaging 0.82
R9070:Hdgfl2 UTSW 17 56,389,371 (GRCm39) missense possibly damaging 0.76
R9541:Hdgfl2 UTSW 17 56,405,976 (GRCm39) missense unknown
R9657:Hdgfl2 UTSW 17 56,405,978 (GRCm39) missense unknown
Z1176:Hdgfl2 UTSW 17 56,404,016 (GRCm39) missense probably null
Z1176:Hdgfl2 UTSW 17 56,386,825 (GRCm39) missense possibly damaging 0.79
Z1177:Hdgfl2 UTSW 17 56,406,343 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- TGAGCTCCTCTGACAGTGAG -3'
(R):5'- TGTCACTGAGAGTCATAGCCCC -3'

Sequencing Primer
(F):5'- TGACAGTGAGGCCCCTGAAG -3'
(R):5'- GTGGTGCATACTCATGACCTCAG -3'
Posted On 2020-10-20