Incidental Mutation 'IGL03135:Hdgfl3'
ID 410485
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 # IGL03135
Quality Score
Status
Chromosome 7
Chromosomal Location 81530999-81584221 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 81543587 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 188 (T188M)
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: T188M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000026094
Gene: ENSMUSG00000025104
AA Change: T188M

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: T188M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000102926
Gene: ENSMUSG00000025104
AA Change: T188M

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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apmap A C 2: 150,429,035 (GRCm39) M196R possibly damaging Het
Arhgap27 T A 11: 103,229,891 (GRCm39) probably null Het
Arl8b A C 6: 108,795,506 (GRCm39) N148T probably benign Het
Baz1a A G 12: 54,976,375 (GRCm39) F434L probably damaging Het
Birc2 A G 9: 7,849,722 (GRCm39) probably benign Het
Brwd1 C A 16: 95,822,458 (GRCm39) R1249I probably damaging Het
Cab39l T C 14: 59,757,100 (GRCm39) F161L probably benign Het
Ccr8 A T 9: 119,923,689 (GRCm39) D268V possibly damaging Het
Col25a1 A T 3: 130,323,332 (GRCm39) probably benign Het
Cpn1 A G 19: 43,974,693 (GRCm39) L12P possibly damaging Het
Dnah6 A G 6: 73,121,987 (GRCm39) I1360T probably benign Het
Dnajb8 A G 6: 88,200,013 (GRCm39) E183G probably damaging Het
Dpp8 T A 9: 64,960,322 (GRCm39) probably null Het
Fsd1 C A 17: 56,297,416 (GRCm39) probably null Het
Grina T A 15: 76,132,162 (GRCm39) F28I possibly damaging Het
H2-M3 G A 17: 37,583,324 (GRCm39) D262N possibly damaging Het
Kif18b A G 11: 102,805,086 (GRCm39) I353T probably damaging Het
Lrrc41 C A 4: 115,945,728 (GRCm39) R148S probably benign Het
Lrrc8e T A 8: 4,285,776 (GRCm39) L667Q probably damaging Het
Lrrk1 A G 7: 65,912,638 (GRCm39) F1641L probably benign Het
Naaladl1 A T 19: 6,162,386 (GRCm39) T443S probably benign Het
Naga C A 15: 82,214,942 (GRCm39) V339F probably damaging Het
Nedd4l A G 18: 65,338,741 (GRCm39) K702E probably damaging Het
Nwd2 T A 5: 63,963,338 (GRCm39) L974H probably damaging Het
Parp14 A G 16: 35,678,381 (GRCm39) M529T probably damaging Het
Parp8 A G 13: 117,047,478 (GRCm39) V198A probably benign Het
Pcdhb19 A T 18: 37,631,588 (GRCm39) H461L probably benign Het
Ppp6r1 T C 7: 4,645,159 (GRCm39) D236G possibly damaging Het
Psg21 T C 7: 18,388,843 (GRCm39) D83G probably benign Het
Ptpru A G 4: 131,546,111 (GRCm39) C308R probably damaging Het
Ralgds T A 2: 28,439,100 (GRCm39) S696T probably damaging Het
Rttn T A 18: 89,033,274 (GRCm39) L695Q probably damaging Het
Scel A T 14: 103,823,950 (GRCm39) I393F probably benign Het
Serpina3j T A 12: 104,281,166 (GRCm39) I113N probably damaging Het
Slc4a3 C A 1: 75,524,579 (GRCm39) probably benign Het
Slc6a11 A T 6: 114,171,570 (GRCm39) probably null Het
Slc8a3 C T 12: 81,249,023 (GRCm39) V802M probably damaging Het
Smarcal1 T A 1: 72,655,660 (GRCm39) probably null Het
Tmprss11c A G 5: 86,385,509 (GRCm39) V308A probably damaging Het
Trim10 A G 17: 37,185,113 (GRCm39) R279G possibly damaging Het
Trim30a A G 7: 104,060,348 (GRCm39) V476A probably damaging Het
Trio T C 15: 27,832,097 (GRCm39) probably benign Het
Urgcp G A 11: 5,666,091 (GRCm39) T749I possibly damaging Het
Vmn2r60 A G 7: 41,786,018 (GRCm39) I274V probably benign Het
Vps11 A G 9: 44,267,653 (GRCm39) F40L probably benign Het
Ywhab A G 2: 163,857,195 (GRCm39) I157V probably benign Het
Zfp638 G A 6: 83,919,857 (GRCm39) R485H probably damaging Het
Zfp944 A G 17: 22,558,737 (GRCm39) I170T probably benign Het
Other mutations in Hdgfl3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02839:Hdgfl3 APN 7 81,550,160 (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 2016-08-02