Incidental Mutation 'IGL03288:Phf13'
ID 415807
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Phf13
Ensembl Gene ENSMUSG00000047777
Gene Name PHD finger protein 13
Synonyms SPOC1
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.300) question?
Stock # IGL03288
Quality Score
Status
Chromosome 4
Chromosomal Location 152074088-152080636 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 152076826 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 122 (D122G)
Ref Sequence ENSEMBL: ENSMUSP00000062590 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036680] [ENSMUST00000055688] [ENSMUST00000105665]
AlphaFold Q8K2W6
Predicted Effect probably benign
Transcript: ENSMUST00000036680
SMART Domains Protein: ENSMUSP00000035240
Gene: ENSMUSG00000039759

DomainStartEndE-ValueType
THAP 3 88 5.28e-19 SMART
DM3 23 87 6.96e-21 SMART
coiled coil region 166 189 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000055688
AA Change: D122G

PolyPhen 2 Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000062590
Gene: ENSMUSG00000047777
AA Change: D122G

DomainStartEndE-ValueType
low complexity region 103 122 N/A INTRINSIC
low complexity region 214 227 N/A INTRINSIC
PHD 230 274 4.35e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000105665
SMART Domains Protein: ENSMUSP00000101290
Gene: ENSMUSG00000039759

DomainStartEndE-ValueType
THAP 3 88 5.28e-19 SMART
DM3 23 87 6.96e-21 SMART
coiled coil region 132 155 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146471
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a gene trap allele exhibit reduced male fertility over time associated with impaired spermatogonial stem cell differentiation and male germ cell apoptosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arap2 T C 5: 62,761,959 (GRCm39) K1589R probably benign Het
Armc3 T C 2: 19,240,293 (GRCm39) F17L probably damaging Het
Ccdc17 T A 4: 116,456,626 (GRCm39) L465H probably damaging Het
Cdh9 A T 15: 16,856,135 (GRCm39) D725V probably damaging Het
Cert1 T A 13: 96,770,700 (GRCm39) D536E probably benign Het
Chl1 C T 6: 103,652,058 (GRCm39) R309C probably damaging Het
Dbt T A 3: 116,341,847 (GRCm39) *483K probably null Het
Ddx46 A G 13: 55,785,907 (GRCm39) D29G unknown Het
Des T C 1: 75,338,985 (GRCm39) I222T possibly damaging Het
Dnah8 A G 17: 30,891,323 (GRCm39) N776S probably benign Het
Fbn1 A T 2: 125,145,103 (GRCm39) L2712Q probably benign Het
Glb1l3 A C 9: 26,729,601 (GRCm39) V622G probably damaging Het
Grin2a T C 16: 9,487,704 (GRCm39) D398G possibly damaging Het
Itgb3 T C 11: 104,524,293 (GRCm39) M143T probably damaging Het
Lama2 G A 10: 27,245,047 (GRCm39) R245C probably damaging Het
Lgals9 G A 11: 78,875,626 (GRCm39) A6V probably benign Het
Lman2l A T 1: 36,482,628 (GRCm39) Y83N probably damaging Het
Lrp2 T A 2: 69,256,383 (GRCm39) T4586S probably benign Het
Med10 T C 13: 69,963,816 (GRCm39) probably benign Het
Myo18b A C 5: 112,937,863 (GRCm39) L1754R probably damaging Het
Myom2 T C 8: 15,172,679 (GRCm39) L1202S probably damaging Het
Nav3 T C 10: 109,594,878 (GRCm39) E1441G probably damaging Het
Nme8 T C 13: 19,880,776 (GRCm39) E60G possibly damaging Het
Npffr2 G T 5: 89,731,020 (GRCm39) A317S probably damaging Het
Nrxn2 A G 19: 6,540,726 (GRCm39) D893G probably damaging Het
Nup153 T C 13: 46,858,681 (GRCm39) E410G possibly damaging Het
Or11h7 T C 14: 50,890,832 (GRCm39) I46T possibly damaging Het
Or7e178 A G 9: 20,247,207 (GRCm39) probably null Het
Pcdhb10 A G 18: 37,546,358 (GRCm39) D478G probably damaging Het
Pkhd1 A T 1: 20,271,243 (GRCm39) H3103Q probably benign Het
Prr11 A C 11: 86,987,787 (GRCm39) probably null Het
Rac3 C T 11: 120,614,092 (GRCm39) T118M possibly damaging Het
Rad54b T C 4: 11,569,833 (GRCm39) S50P possibly damaging Het
Rp1 T C 1: 4,419,747 (GRCm39) Q455R possibly damaging Het
Semp2l1 T A 1: 32,584,841 (GRCm39) E356D probably benign Het
Sorl1 T C 9: 41,944,858 (GRCm39) probably benign Het
Spink5 A T 18: 44,147,827 (GRCm39) I858F possibly damaging Het
Stxbp5 A T 10: 9,742,447 (GRCm39) probably null Het
Svep1 A C 4: 58,116,532 (GRCm39) V906G probably benign Het
Tlr4 A G 4: 66,757,990 (GRCm39) E261G probably damaging Het
Zfp704 C T 3: 9,504,951 (GRCm39) probably benign Het
Zfyve9 A T 4: 108,580,996 (GRCm39) probably benign Het
Other mutations in Phf13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01328:Phf13 APN 4 152,080,285 (GRCm39) missense probably benign
R0685:Phf13 UTSW 4 152,076,069 (GRCm39) missense probably damaging 0.96
R1660:Phf13 UTSW 4 152,076,962 (GRCm39) missense probably benign
R3052:Phf13 UTSW 4 152,076,820 (GRCm39) missense possibly damaging 0.53
R4249:Phf13 UTSW 4 152,076,552 (GRCm39) missense probably damaging 1.00
R5232:Phf13 UTSW 4 152,076,680 (GRCm39) missense probably damaging 0.99
R6619:Phf13 UTSW 4 152,076,114 (GRCm39) missense probably damaging 1.00
R6801:Phf13 UTSW 4 152,076,017 (GRCm39) missense probably damaging 1.00
R7590:Phf13 UTSW 4 152,076,232 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02