Incidental Mutation 'R6619:Phf13'
ID 524267
Institutional Source Beutler Lab
Gene Symbol Phf13
Ensembl Gene ENSMUSG00000047777
Gene Name PHD finger protein 13
Synonyms SPOC1
MMRRC Submission 044742-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.321) question?
Stock # R6619 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 152074088-152080636 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 152076114 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 263 (N263Y)
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: N263Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000062590
Gene: ENSMUSG00000047777
AA Change: N263Y

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
Meta Mutation Damage Score 0.6377 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 93.9%
Validation Efficiency 100% (37/37)
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp13a5 G A 16: 29,167,833 (GRCm39) P109S probably benign Het
Baiap2l1 T C 5: 144,222,916 (GRCm39) K106R probably benign Het
Coro6 A G 11: 77,357,030 (GRCm39) I111V possibly damaging Het
Crocc2 A G 1: 93,118,223 (GRCm39) E382G probably benign Het
Dhrs7l A T 12: 72,668,724 (GRCm39) N44K possibly damaging Het
Dnah5 C A 15: 28,409,266 (GRCm39) N3561K probably benign Het
Dsc2 T A 18: 20,165,335 (GRCm39) E879D probably benign Het
Frk A G 10: 34,481,835 (GRCm39) Y375C probably benign Het
Herc2 A T 7: 55,717,840 (GRCm39) R61* probably null Het
Jarid2 A G 13: 45,027,872 (GRCm39) D146G probably damaging Het
Lancl2 C A 6: 57,699,566 (GRCm39) T127K probably damaging Het
Large1 G A 8: 73,609,892 (GRCm39) Q359* probably null Het
Mast2 C A 4: 116,173,694 (GRCm39) E521* probably null Het
Mrc1 T A 2: 14,299,597 (GRCm39) probably null Het
Obi1 T C 14: 104,759,993 (GRCm39) H19R possibly damaging Het
Or4z4 A G 19: 12,076,727 (GRCm39) I92T probably damaging Het
Or5ak23 T C 2: 85,244,425 (GRCm39) N266S probably benign Het
Or6c38 A T 10: 128,929,323 (GRCm39) D173E possibly damaging Het
Or8k38 T C 2: 86,488,406 (GRCm39) Y132C probably damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
P2ry14 T C 3: 59,023,154 (GRCm39) Y102C probably damaging Het
Pcdhga6 T A 18: 37,842,702 (GRCm39) D807E probably benign Het
Pcdhgb4 T A 18: 37,854,737 (GRCm39) N377K probably damaging Het
Rab19 T A 6: 39,365,060 (GRCm39) S107T probably damaging Het
Rasgrf2 A T 13: 92,165,027 (GRCm39) F380I probably damaging Het
Reep1 T C 6: 71,784,826 (GRCm39) probably benign Het
Rpgrip1l C T 8: 91,959,499 (GRCm39) E1134K possibly damaging Het
Serpina3m A T 12: 104,357,766 (GRCm39) Y230F probably benign Het
Skint3 T C 4: 112,111,061 (GRCm39) I62T probably damaging Het
Smg6 T C 11: 74,823,279 (GRCm39) probably null Het
Sp4 G A 12: 118,263,077 (GRCm39) T323I possibly damaging Het
Strc A G 2: 121,198,913 (GRCm39) I1378T probably damaging Het
Tepsin C T 11: 119,986,428 (GRCm39) G128D probably benign Het
Togaram2 A G 17: 71,996,266 (GRCm39) N89D probably damaging Het
Trim36 T C 18: 46,321,475 (GRCm39) T191A probably damaging Het
Trp53bp1 A T 2: 121,077,980 (GRCm39) probably null Het
Zfp418 G A 7: 7,184,895 (GRCm39) C286Y 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
R5232:Phf13 UTSW 4 152,076,680 (GRCm39) missense probably damaging 0.99
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'- GAGTTCTGTGCTCAACTAAGGG -3'
(R):5'- AGTCTGGTCACACTTAGCCAC -3'

Sequencing Primer
(F):5'- CTGTGCTCAACTAAGGGAGGCTAG -3'
(R):5'- AGCCACTGTGTCTCTTGAATG -3'
Posted On 2018-06-22