Incidental Mutation 'IGL02676:Hdgfl1'
ID303127
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hdgfl1
Ensembl Gene ENSMUSG00000045835
Gene Namehepatoma derived growth factor-like 1
SynonymsPwwp1, HRP-1, Hdgfrp1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02676
Quality Score
Status
Chromosome13
Chromosomal Location26768173-26770165 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 26769365 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Cysteine at position 242 (R242C)
Ref Sequence ENSEMBL: ENSMUSP00000057557 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055915]
Predicted Effect possibly damaging
Transcript: ENSMUST00000055915
AA Change: R242C

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000057557
Gene: ENSMUSG00000045835
AA Change: R242C

DomainStartEndE-ValueType
Pfam:PWWP 9 85 3.1e-15 PFAM
low complexity region 121 150 N/A INTRINSIC
low complexity region 181 206 N/A INTRINSIC
low complexity region 233 246 N/A INTRINSIC
low complexity region 251 269 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224024
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apc G A 18: 34,315,634 S1827N probably damaging Het
Atrnl1 T A 19: 57,691,884 C739S probably damaging Het
Cep350 T C 1: 155,862,231 E2622G possibly damaging Het
Chd5 C T 4: 152,356,073 probably benign Het
Chst11 T A 10: 83,191,729 L330Q probably damaging Het
Clcnka A T 4: 141,392,783 V275E probably damaging Het
Clip4 G A 17: 71,828,621 S456N probably damaging Het
Cmya5 A T 13: 93,092,853 I1909N probably damaging Het
Cyp26b1 A G 6: 84,576,644 I176T probably damaging Het
Dst A G 1: 34,307,587 R7717G probably damaging Het
Eml2 C T 7: 19,184,921 R99* probably null Het
Fibin T C 2: 110,362,584 Q71R probably benign Het
Fsip2 T G 2: 82,982,157 I2940S possibly damaging Het
Gabrb3 G T 7: 57,591,364 probably benign Het
Gfra1 G A 19: 58,453,355 T48I probably damaging Het
Gm13083 T C 4: 143,616,097 F258S possibly damaging Het
Gm6205 A G 5: 94,683,871 T246A possibly damaging Het
Gm6483 C T 8: 19,693,659 noncoding transcript Het
Hmcn1 T C 1: 150,619,009 T4110A probably benign Het
Lama2 T G 10: 27,118,493 M1807L probably benign Het
Larp4 T C 15: 99,990,421 V113A possibly damaging Het
Mkx T C 18: 7,000,640 T101A probably benign Het
Nfe2l1 A G 11: 96,827,665 F15L probably damaging Het
Nif3l1 G A 1: 58,455,736 probably null Het
Nop14 A G 5: 34,639,221 V764A probably damaging Het
Nosip C A 7: 45,077,328 A259E probably damaging Het
Ntn5 T C 7: 45,691,876 probably benign Het
Olfr1016 T C 2: 85,799,590 I227V possibly damaging Het
Phospho1 G A 11: 95,830,888 G128D probably damaging Het
Ppp4r3a G A 12: 101,042,511 T703M probably benign Het
Prdm8 G A 5: 98,186,559 E662K probably damaging Het
Ralgapa1 A G 12: 55,676,417 S1775P probably damaging Het
Rapgef6 T C 11: 54,649,346 probably benign Het
Rasef T C 4: 73,759,729 T87A possibly damaging Het
Scrn3 A G 2: 73,329,871 Q286R probably benign Het
Sema3d A T 5: 12,570,978 Q517L probably benign Het
Slc9a3r2 A T 17: 24,641,956 V204E probably damaging Het
Taf6l T C 19: 8,775,049 Y425C probably damaging Het
Tbk1 T C 10: 121,568,080 N254S possibly damaging Het
Tcf3 C T 10: 80,421,091 G64R probably damaging Het
Tmco4 T C 4: 139,023,069 probably null Het
Trappc11 A G 8: 47,493,413 probably benign Het
Vmn1r19 A T 6: 57,405,040 I193F possibly damaging Het
Vmn2r14 G A 5: 109,220,016 T370I probably benign Het
Vmn2r65 T A 7: 84,940,173 H845L possibly damaging Het
Vmn2r98 A T 17: 19,065,259 T114S probably benign Het
Zfp280d A T 9: 72,335,074 R661S probably damaging Het
Zranb1 T C 7: 132,966,681 I356T probably benign Het
Other mutations in Hdgfl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02634:Hdgfl1 APN 13 26769803 missense probably benign 0.01
R0226:Hdgfl1 UTSW 13 26769996 missense probably benign 0.09
R0648:Hdgfl1 UTSW 13 26769853 missense probably damaging 1.00
R2295:Hdgfl1 UTSW 13 26769362 missense possibly damaging 0.53
R2518:Hdgfl1 UTSW 13 26769749 missense probably benign 0.10
R4682:Hdgfl1 UTSW 13 26769247 missense possibly damaging 0.72
R6352:Hdgfl1 UTSW 13 26769750 missense probably benign 0.04
R6419:Hdgfl1 UTSW 13 26770092 start gained probably benign
Posted On2015-04-16