Incidental Mutation 'R6352:Hdgfl1'
ID 513299
Institutional Source Beutler Lab
Gene Symbol Hdgfl1
Ensembl Gene ENSMUSG00000045835
Gene Name HDGF like 1
Synonyms HRP-1, Pwwp1, Hdgfrp1
MMRRC Submission 044504-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6352 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 26952156-26954148 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 26953733 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 113 (E113D)
Ref Sequence ENSEMBL: ENSMUSP00000057557 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055915]
AlphaFold Q2VPR5
Predicted Effect probably benign
Transcript: ENSMUST00000055915
AA Change: E113D

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000057557
Gene: ENSMUSG00000045835
AA Change: E113D

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
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.2%
Validation Efficiency 96% (48/50)
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700122O11Rik T C 17: 48,347,945 (GRCm39) S120G probably benign Het
Abca13 G A 11: 9,259,139 (GRCm39) probably null Het
Aco1 G A 4: 40,186,367 (GRCm39) R593Q probably benign Het
Adgra3 T A 5: 50,136,478 (GRCm39) D669V probably benign Het
Adgra3 T A 5: 50,147,592 (GRCm39) M483L probably benign Het
Ccdc42 T C 11: 68,485,191 (GRCm39) V88A probably damaging Het
Cdh16 G C 8: 105,343,624 (GRCm39) S624C probably damaging Het
Cpt1c A T 7: 44,616,219 (GRCm39) probably null Het
Cul9 T C 17: 46,822,241 (GRCm39) T1795A probably benign Het
Dnah2 C T 11: 69,339,053 (GRCm39) V3098I probably damaging Het
Fbxl16 T C 17: 26,037,919 (GRCm39) L426P probably damaging Het
Flt4 T C 11: 49,534,333 (GRCm39) I1168T probably benign Het
Fmo5 T C 3: 97,552,991 (GRCm39) V313A probably benign Het
Foxj3 A G 4: 119,442,975 (GRCm39) N133S probably damaging Het
Gbp8 T C 5: 105,162,926 (GRCm39) I489M possibly damaging Het
Gm10801 TC TCGAC 2: 98,494,151 (GRCm39) probably benign Het
Heatr5a A T 12: 51,997,949 (GRCm39) S317T possibly damaging Het
Hycc2 A G 1: 58,596,471 (GRCm39) V38A probably damaging Het
Insr C T 8: 3,223,479 (GRCm39) probably null Het
Iqcf5 A G 9: 106,392,929 (GRCm39) E62G possibly damaging Het
Kcnj3 G A 2: 55,327,561 (GRCm39) V117I probably benign Het
Klf9 T A 19: 23,119,138 (GRCm39) M7K probably benign Het
Mboat1 G A 13: 30,386,403 (GRCm39) G139E possibly damaging Het
Mical3 T C 6: 120,929,434 (GRCm39) T1811A probably damaging Het
Mllt10 A C 2: 18,128,604 (GRCm39) K117T probably damaging Het
Mpped1 A G 15: 83,720,564 (GRCm39) D8G probably damaging Het
Myh4 A T 11: 67,143,108 (GRCm39) D1012V probably damaging Het
Myo9b C A 8: 71,801,054 (GRCm39) P1070T probably benign Het
Myo9b C T 8: 71,801,055 (GRCm39) P1071L probably benign Het
Nlrp1b T A 11: 71,072,527 (GRCm39) I439F probably damaging Het
Nlrp9a T A 7: 26,257,051 (GRCm39) I134N probably damaging Het
Nop2 C T 6: 125,114,170 (GRCm39) T212M probably benign Het
Notch4 T C 17: 34,786,435 (GRCm39) C188R probably damaging Het
Or10q12 A T 19: 13,745,828 (GRCm39) M41L probably benign Het
Or2ag19 G T 7: 106,444,429 (GRCm39) V204F probably damaging Het
Pgd C T 4: 149,245,209 (GRCm39) probably null Het
Plet1 T C 9: 50,412,407 (GRCm39) S142P probably damaging Het
Ptk7 A T 17: 46,887,816 (GRCm39) W539R probably benign Het
Ptprd A T 4: 76,009,789 (GRCm39) probably null Het
Rgs22 T G 15: 36,093,067 (GRCm39) Q402P probably damaging Het
Rpl10a T C 17: 28,549,820 (GRCm39) V167A possibly damaging Het
Sdr16c5 A G 4: 4,016,421 (GRCm39) S2P probably benign Het
Slc14a2 T C 18: 78,252,309 (GRCm39) M1V probably null Het
Spta1 T A 1: 174,039,212 (GRCm39) M1185K possibly damaging Het
Syde2 G T 3: 145,704,229 (GRCm39) E127* probably null Het
Thoc2l A G 5: 104,668,064 (GRCm39) E862G probably benign Het
Ugt2b38 T A 5: 87,571,860 (GRCm39) R57S possibly damaging Het
Wdr11 C T 7: 129,208,399 (GRCm39) L385F possibly damaging Het
Wdr74 T C 19: 8,716,822 (GRCm39) V200A possibly damaging Het
Other mutations in Hdgfl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02634:Hdgfl1 APN 13 26,953,786 (GRCm39) missense probably benign 0.01
IGL02676:Hdgfl1 APN 13 26,953,348 (GRCm39) missense possibly damaging 0.91
R0226:Hdgfl1 UTSW 13 26,953,979 (GRCm39) missense probably benign 0.09
R0648:Hdgfl1 UTSW 13 26,953,836 (GRCm39) missense probably damaging 1.00
R2295:Hdgfl1 UTSW 13 26,953,345 (GRCm39) missense possibly damaging 0.53
R2518:Hdgfl1 UTSW 13 26,953,732 (GRCm39) missense probably benign 0.10
R4682:Hdgfl1 UTSW 13 26,953,230 (GRCm39) missense possibly damaging 0.72
R6419:Hdgfl1 UTSW 13 26,954,075 (GRCm39) start gained probably benign
R8223:Hdgfl1 UTSW 13 26,954,047 (GRCm39) missense probably damaging 1.00
R8817:Hdgfl1 UTSW 13 26,954,068 (GRCm39) missense probably damaging 0.99
R8874:Hdgfl1 UTSW 13 26,954,007 (GRCm39) missense probably damaging 1.00
R9036:Hdgfl1 UTSW 13 26,953,428 (GRCm39) missense probably benign
R9559:Hdgfl1 UTSW 13 26,953,239 (GRCm39) missense probably damaging 1.00
R9560:Hdgfl1 UTSW 13 26,953,239 (GRCm39) missense probably damaging 1.00
R9561:Hdgfl1 UTSW 13 26,953,239 (GRCm39) missense probably damaging 1.00
R9665:Hdgfl1 UTSW 13 26,953,812 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- ATGCTCGGCTTGCTGATCTC -3'
(R):5'- AGGTGTTCTTCTTCGGGACC -3'

Sequencing Primer
(F):5'- GGCTTGCTGATCTCCTGGC -3'
(R):5'- TTCTTCGGGACCCATGAGAC -3'
Posted On 2018-04-27