Incidental Mutation 'IGL01446:Hdgfl2'
ID84436
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hdgfl2
Ensembl Gene ENSMUSG00000002833
Gene NameHDGF like 2
SynonymsHdgfrp2, HRP-2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.197) question?
Stock #IGL01446
Quality Score
Status
Chromosome17
Chromosomal Location56079634-56100607 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 56097281 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Cysteine at position 332 (R332C)
Ref Sequence ENSEMBL: ENSMUSP00000153249 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002908] [ENSMUST00000002911] [ENSMUST00000190703] [ENSMUST00000225843] [ENSMUST00000226053]
Predicted Effect probably benign
Transcript: ENSMUST00000002908
SMART Domains Protein: ENSMUSP00000002908
Gene: ENSMUSG00000002831

DomainStartEndE-ValueType
low complexity region 19 31 N/A INTRINSIC
internal_repeat_2 74 335 9.44e-7 PROSPERO
internal_repeat_1 103 467 2.72e-12 PROSPERO
internal_repeat_2 343 701 9.44e-7 PROSPERO
internal_repeat_1 598 1090 2.72e-12 PROSPERO
low complexity region 1124 1136 N/A INTRINSIC
Pfam:Perilipin 1144 1385 2.3e-22 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000002911
AA Change: R322C

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000002911
Gene: ENSMUSG00000002833
AA Change: R322C

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: ENSMUST00000190703
SMART Domains Protein: ENSMUSP00000139859
Gene: ENSMUSG00000002831

DomainStartEndE-ValueType
low complexity region 19 31 N/A INTRINSIC
internal_repeat_2 74 335 9.44e-7 PROSPERO
internal_repeat_1 103 467 2.72e-12 PROSPERO
internal_repeat_2 343 701 9.44e-7 PROSPERO
internal_repeat_1 598 1090 2.72e-12 PROSPERO
Pfam:Perilipin 1110 1385 1.4e-16 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224101
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224172
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224655
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224701
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225208
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225342
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225731
Predicted Effect possibly damaging
Transcript: ENSMUST00000225843
AA Change: R332C

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226035
Predicted Effect possibly damaging
Transcript: ENSMUST00000226053
AA Change: R323C

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
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 (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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,403,834 T3719A probably damaging Het
Acaca A G 11: 84,260,631 K785R probably damaging Het
Acsm3 G A 7: 119,778,454 V401M probably damaging Het
Aff4 G T 11: 53,415,469 R1146L probably damaging Het
Alms1 C A 6: 85,696,701 P3562T probably damaging Het
Arsj A G 3: 126,438,814 E403G probably benign Het
Baiap2l1 C T 5: 144,275,913 V431I probably benign Het
Cecr2 T A 6: 120,758,599 M904K probably benign Het
Cenpe A T 3: 135,237,539 T775S probably benign Het
Dennd1b G A 1: 139,023,110 E30K possibly damaging Het
Dnah5 A G 15: 28,326,669 D2008G probably damaging Het
Dnm2 T C 9: 21,481,376 V460A probably damaging Het
Ell2 G T 13: 75,761,991 L285F probably benign Het
Erg A G 16: 95,361,282 S322P probably damaging Het
Extl3 A G 14: 65,077,080 F218L probably benign Het
Fam84a A T 12: 14,149,928 I266N probably damaging Het
Fzd9 T C 5: 135,250,566 E155G probably damaging Het
Ghr A G 15: 3,333,355 W212R probably damaging Het
Gulp1 A G 1: 44,744,548 probably benign Het
Nsd2 T C 5: 33,861,186 probably benign Het
Olfr1259 A G 2: 89,943,938 F59S probably damaging Het
Olfr1441 T C 19: 12,422,801 I164T possibly damaging Het
Olfr1480 C T 19: 13,530,252 T237I probably benign Het
Phf11b A C 14: 59,341,291 S9A probably benign Het
Psd4 T C 2: 24,405,395 S854P probably damaging Het
Reln C T 5: 21,969,317 D1963N probably damaging Het
Rpe65 T A 3: 159,600,405 probably benign Het
Sdccag8 T C 1: 176,845,245 S235P probably damaging Het
Sgip1 G T 4: 102,928,913 probably null Het
Skint5 G A 4: 113,942,822 P36L probably damaging Het
Slc26a3 G T 12: 31,452,491 probably benign Het
Snx13 T A 12: 35,124,480 C669* probably null Het
Svil A T 18: 5,062,385 T902S probably damaging Het
Syne2 T C 12: 76,041,375 S4989P probably damaging Het
Ttn G A 2: 76,809,939 T13775M probably damaging Het
Ubr4 T C 4: 139,438,040 probably benign Het
Ush1c C T 7: 46,208,956 R636H possibly damaging Het
Usp17lc A T 7: 103,418,444 R315S probably benign Het
Vmn1r236 T A 17: 21,286,656 V12D probably benign Het
Wsb2 T G 5: 117,371,164 I170S probably damaging Het
Zfp800 G A 6: 28,242,984 L661F possibly damaging Het
Other mutations in Hdgfl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01486:Hdgfl2 APN 17 56098733 missense possibly damaging 0.84
IGL02977:Hdgfl2 APN 17 56099319 missense possibly damaging 0.71
IGL03196:Hdgfl2 APN 17 56093607 missense probably benign 0.40
IGL03368:Hdgfl2 APN 17 56079746 utr 5 prime probably benign
R0325:Hdgfl2 UTSW 17 56099181 missense possibly damaging 0.95
R0635:Hdgfl2 UTSW 17 56096057 missense probably damaging 0.99
R1914:Hdgfl2 UTSW 17 56096978 missense probably damaging 1.00
R1927:Hdgfl2 UTSW 17 56099874 missense possibly damaging 0.92
R2157:Hdgfl2 UTSW 17 56098691 missense possibly damaging 0.46
R2337:Hdgfl2 UTSW 17 56096987 missense possibly damaging 0.46
R4884:Hdgfl2 UTSW 17 56096265 missense possibly damaging 0.91
R5093:Hdgfl2 UTSW 17 56099217 missense possibly damaging 0.92
R5510:Hdgfl2 UTSW 17 56082118 missense possibly damaging 0.77
R6862:Hdgfl2 UTSW 17 56099211 missense probably damaging 0.97
R7180:Hdgfl2 UTSW 17 56097532 splice site probably null
R7389:Hdgfl2 UTSW 17 56099389 critical splice donor site probably null
R7564:Hdgfl2 UTSW 17 56099860 missense unknown
R7921:Hdgfl2 UTSW 17 56093724 critical splice donor site probably null
Z1176:Hdgfl2 UTSW 17 56079825 missense possibly damaging 0.79
Z1176:Hdgfl2 UTSW 17 56097016 missense probably null
Z1177:Hdgfl2 UTSW 17 56099343 missense unknown
Posted On2013-11-11