Incidental Mutation 'IGL02839:Hdgfl3'
ID 361792
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hdgfl3
Ensembl Gene ENSMUSG00000025104
Gene Name HDGF like 3
Synonyms HRP-3, 2700022B06Rik, Hdgfrp3
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02839
Quality Score
Status
Chromosome 7
Chromosomal Location 81530999-81584221 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 81550160 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 58 (G58D)
Ref Sequence ENSEMBL: ENSMUSP00000102926 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026094] [ENSMUST00000107305]
AlphaFold Q9JMG7
Predicted Effect probably damaging
Transcript: ENSMUST00000026094
AA Change: G58D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000026094
Gene: ENSMUSG00000025104
AA Change: G58D

DomainStartEndE-ValueType
PWWP 9 66 2.51e-19 SMART
low complexity region 103 115 N/A INTRINSIC
low complexity region 143 161 N/A INTRINSIC
low complexity region 163 183 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000107305
AA Change: G58D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102926
Gene: ENSMUSG00000025104
AA Change: G58D

DomainStartEndE-ValueType
PWWP 9 66 2.51e-19 SMART
low complexity region 103 115 N/A INTRINSIC
low complexity region 143 161 N/A INTRINSIC
low complexity region 163 183 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149288
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A3galt2 T C 4: 128,653,816 (GRCm39) probably null Het
Aldh1l1 T C 6: 90,546,857 (GRCm39) F387L possibly damaging Het
Aldh5a1 A G 13: 25,095,603 (GRCm39) S505P probably damaging Het
Aox1 A G 1: 58,107,943 (GRCm39) T642A probably benign Het
Atg16l2 T C 7: 100,942,604 (GRCm39) I364V probably damaging Het
Atp2c2 T C 8: 120,475,859 (GRCm39) V584A possibly damaging Het
Axl A T 7: 25,466,216 (GRCm39) probably null Het
Camta1 T C 4: 151,228,969 (GRCm39) Q621R probably damaging Het
Cdca4 A T 12: 112,785,511 (GRCm39) D72E probably damaging Het
Col1a2 T A 6: 4,538,748 (GRCm39) Y1223N unknown Het
Drc1 T C 5: 30,507,767 (GRCm39) M263T probably benign Het
Eef1akmt1 A T 14: 57,787,238 (GRCm39) Y213N probably damaging Het
Fat3 C A 9: 15,830,466 (GRCm39) D4343Y probably damaging Het
Ftdc1 A G 16: 58,436,210 (GRCm39) Y38H probably damaging Het
Gucy2d T C 7: 98,093,196 (GRCm39) V191A possibly damaging Het
Hdac5 A G 11: 102,095,734 (GRCm39) L355P probably damaging Het
Hnrnpul1 A G 7: 25,432,667 (GRCm39) probably null Het
Klf12 A T 14: 100,137,675 (GRCm39) C290* probably null Het
Mtmr3 A T 11: 4,437,994 (GRCm39) I820N probably benign Het
Myo7a A T 7: 97,740,329 (GRCm39) L555Q probably damaging Het
Nrsn1 A G 13: 25,437,527 (GRCm39) C134R probably damaging Het
Or13c7d T A 4: 43,770,943 (GRCm39) K23* probably null Het
Or1p1 T A 11: 74,180,196 (GRCm39) C241* probably null Het
Or4c11c G A 2: 88,661,992 (GRCm39) C177Y probably damaging Het
Or56a3b A C 7: 104,771,563 (GRCm39) T300P probably damaging Het
Or5ac24 A T 16: 59,165,753 (GRCm39) C104S probably benign Het
Or5t9 T A 2: 86,659,712 (GRCm39) N205K probably benign Het
Pik3r6 A G 11: 68,417,238 (GRCm39) E60G probably damaging Het
Pkhd1l1 T A 15: 44,392,939 (GRCm39) I1758N probably damaging Het
Poc1b A G 10: 98,980,460 (GRCm39) probably benign Het
Rnf103 G T 6: 71,486,689 (GRCm39) R440L probably benign Het
Siglec1 A G 2: 130,926,852 (GRCm39) V237A possibly damaging Het
Skic2 T C 17: 35,066,774 (GRCm39) T165A probably benign Het
Slit3 A G 11: 35,539,874 (GRCm39) N762S possibly damaging Het
Trank1 A G 9: 111,193,824 (GRCm39) N616S probably damaging Het
Trav14d-3-dv8 C A 14: 53,316,247 (GRCm39) Q36K possibly damaging Het
Ttll6 T C 11: 96,049,646 (GRCm39) V788A probably damaging Het
Ube4b A T 4: 149,452,856 (GRCm39) S357T probably damaging Het
Unc80 A G 1: 66,710,834 (GRCm39) H2701R possibly damaging Het
Wdfy3 A G 5: 102,116,786 (GRCm39) S85P probably damaging Het
Other mutations in Hdgfl3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03135:Hdgfl3 APN 7 81,543,587 (GRCm39) missense probably damaging 1.00
R1719:Hdgfl3 UTSW 7 81,549,432 (GRCm39) missense probably damaging 1.00
R5752:Hdgfl3 UTSW 7 81,549,451 (GRCm39) missense possibly damaging 0.70
R6683:Hdgfl3 UTSW 7 81,550,101 (GRCm39) missense possibly damaging 0.72
R7485:Hdgfl3 UTSW 7 81,550,106 (GRCm39) missense probably benign 0.42
R7944:Hdgfl3 UTSW 7 81,583,706 (GRCm39) missense possibly damaging 0.94
R7945:Hdgfl3 UTSW 7 81,583,706 (GRCm39) missense possibly damaging 0.94
Posted On 2015-12-18