Incidental Mutation 'R5232:Phf13'
ID 398597
Institutional Source Beutler Lab
Gene Symbol Phf13
Ensembl Gene ENSMUSG00000047777
Gene Name PHD finger protein 13
Synonyms SPOC1
MMRRC Submission 042804-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.300) question?
Stock # R5232 (G1)
Quality Score 207
Status Not validated
Chromosome 4
Chromosomal Location 152074088-152080636 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 152076680 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 171 (T171A)
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 probably damaging
Transcript: ENSMUST00000055688
AA Change: T171A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000062590
Gene: ENSMUSG00000047777
AA Change: T171A

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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 T C 16: 20,157,672 (GRCm39) E1295G probably damaging Het
Adarb2 C A 13: 8,763,676 (GRCm39) H524Q possibly damaging Het
Arhgap26 A G 18: 39,126,529 (GRCm39) M1V probably null Het
Atp10b G A 11: 43,093,006 (GRCm39) R447H probably damaging Het
B4galnt3 T A 6: 120,209,949 (GRCm39) Y58F probably damaging Het
Cdca7l A G 12: 117,833,820 (GRCm39) E79G probably damaging Het
Chd4 C G 6: 125,098,273 (GRCm39) P350A probably damaging Het
Coq2 G A 5: 100,805,698 (GRCm39) H313Y possibly damaging Het
Cubn A T 2: 13,483,013 (GRCm39) C244* probably null Het
Cyfip2 A G 11: 46,133,205 (GRCm39) S832P probably damaging Het
Dnaaf1 A C 8: 120,317,329 (GRCm39) E286A probably benign Het
Emilin1 A G 5: 31,074,323 (GRCm39) K188R probably benign Het
Fstl5 T C 3: 76,052,284 (GRCm39) W5R possibly damaging Het
Gm5565 T A 5: 146,096,947 (GRCm39) Y64F possibly damaging Het
Golga4 G A 9: 118,335,626 (GRCm39) probably null Het
Hmcn2 T C 2: 31,347,760 (GRCm39) L4802P probably damaging Het
Hnrnpll C T 17: 80,346,107 (GRCm39) V385I probably damaging Het
Kctd9 A T 14: 67,962,110 (GRCm39) D51V probably damaging Het
Lcn9 T C 2: 25,714,067 (GRCm39) probably null Het
Map1a C A 2: 121,132,466 (GRCm39) P856H probably damaging Het
Myo5b G C 18: 74,848,003 (GRCm39) E1080D probably damaging Het
Naglu T C 11: 100,960,976 (GRCm39) I9T probably benign Het
Ndst3 A T 3: 123,465,888 (GRCm39) I28N probably damaging Het
Olfm4 A G 14: 80,259,122 (GRCm39) N424D probably damaging Het
Or11g26 T A 14: 50,753,495 (GRCm39) V278E probably damaging Het
Or4n5 A G 14: 50,133,155 (GRCm39) Y35H probably damaging Het
Plk3 A G 4: 116,986,317 (GRCm39) V605A probably benign Het
Polr3a A T 14: 24,503,279 (GRCm39) M1185K probably benign Het
Pramel7 A T 2: 87,320,320 (GRCm39) H324Q probably damaging Het
Prpf4b T A 13: 35,067,573 (GRCm39) probably benign Het
Pxdn C T 12: 30,040,987 (GRCm39) T421I probably benign Het
Sertad2 C T 11: 20,598,344 (GRCm39) T180I possibly damaging Het
Sgo2b C A 8: 64,381,636 (GRCm39) A399S possibly damaging Het
Skint5 T C 4: 113,434,841 (GRCm39) K1043E unknown Het
Slc22a27 C G 19: 7,843,303 (GRCm39) A359P probably damaging Het
Spock3 T C 8: 63,798,843 (GRCm39) F288S probably damaging Het
Srgap1 T C 10: 121,676,816 (GRCm39) I393V probably benign Het
Taf6 T C 5: 138,178,214 (GRCm39) K429R possibly damaging Het
Vav1 T C 17: 57,610,846 (GRCm39) F447L possibly damaging Het
Vmn2r19 T C 6: 123,312,916 (GRCm39) M662T probably benign Het
Zfp541 A G 7: 15,829,104 (GRCm39) Y1152C probably damaging Het
Other mutations in Phf13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01328:Phf13 APN 4 152,080,285 (GRCm39) missense probably benign
IGL03288:Phf13 APN 4 152,076,826 (GRCm39) missense possibly damaging 0.74
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
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
Predicted Primers PCR Primer
(F):5'- TCTGGTCCAACTCTAGTGGC -3'
(R):5'- TCTGGACAGGAAGACAACTGAC -3'

Sequencing Primer
(F):5'- AACTCTAGTGGCCTGGACCCTAG -3'
(R):5'- CAGGAAGACAACTGACAAGCTG -3'
Posted On 2016-07-06