Incidental Mutation 'R0021:Phf7'
ID 8355
Institutional Source Beutler Lab
Gene Symbol Phf7
Ensembl Gene ENSMUSG00000021902
Gene Name PHD finger protein 7
Synonyms 1700010P14Rik, 1700006H01Rik
MMRRC Submission 038316-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0021 (G1)
Quality Score
Status Validated
Chromosome 14
Chromosomal Location 30959646-30973274 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to T at 30960443 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000154281 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022459] [ENSMUST00000226310] [ENSMUST00000226565] [ENSMUST00000228437] [ENSMUST00000228930]
AlphaFold Q9DAG9
Predicted Effect probably benign
Transcript: ENSMUST00000022459
SMART Domains Protein: ENSMUSP00000022459
Gene: ENSMUSG00000021902

DomainStartEndE-ValueType
PHD 97 145 8.45e-3 SMART
RING 160 207 7.46e-1 SMART
RING 250 300 4.87e0 SMART
PHD 252 301 1.16e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000226310
Predicted Effect probably benign
Transcript: ENSMUST00000226565
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227668
Predicted Effect probably benign
Transcript: ENSMUST00000228437
Predicted Effect probably benign
Transcript: ENSMUST00000228930
Coding Region Coverage
  • 1x: 84.2%
  • 3x: 78.9%
  • 10x: 65.7%
  • 20x: 50.3%
Validation Efficiency 96% (92/96)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Spermatogenesis is a complex process regulated by extracellular and intracellular factors as well as cellular interactions among interstitial cells of the testis, Sertoli cells, and germ cells. This gene is expressed in the testis in Sertoli cells but not germ cells. The protein encoded by this gene contains plant homeodomain (PHD) finger domains, also known as leukemia associated protein (LAP) domains, believed to be involved in transcriptional regulation. The protein, which localizes to the nucleus of transfected cells, has been implicated in the transcriptional regulation of spermatogenesis. Alternate splicing results in multiple transcript variants of this gene. [provided by RefSeq, May 2013]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310016G11Rik A G 7: 44,326,620 (GRCm39) noncoding transcript Het
Abcc5 T A 16: 20,197,411 (GRCm39) K647* probably null Het
Aplp1 A G 7: 30,135,241 (GRCm39) probably benign Het
Baiap3 T C 17: 25,462,643 (GRCm39) E1105G probably damaging Het
Brinp3 T G 1: 146,777,189 (GRCm39) S545R probably benign Het
Btnl1 A G 17: 34,598,468 (GRCm39) E28G probably benign Het
Ccr6 G A 17: 8,475,598 (GRCm39) V268M possibly damaging Het
Clstn1 G A 4: 149,719,253 (GRCm39) V361M probably damaging Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
D630045J12Rik G A 6: 38,160,902 (GRCm39) Q1081* probably null Het
Dhx15 T C 5: 52,314,830 (GRCm39) T626A probably damaging Het
Dhx36 T C 3: 62,385,016 (GRCm39) I699V possibly damaging Het
Dnah9 A G 11: 65,860,805 (GRCm39) I2855T probably benign Het
Duxf4 C A 10: 58,071,385 (GRCm39) E276D probably benign Het
Fsip2 T A 2: 82,830,201 (GRCm39) probably benign Het
Galnt11 A T 5: 25,453,855 (GRCm39) D27V probably damaging Het
Gm5134 T A 10: 75,829,718 (GRCm39) C335S probably damaging Het
Hdhd2 A T 18: 77,058,311 (GRCm39) K227N probably damaging Het
Itgb4 A T 11: 115,870,453 (GRCm39) D94V possibly damaging Het
Krtcap3 A G 5: 31,410,303 (GRCm39) H227R probably benign Het
Macf1 T C 4: 123,369,370 (GRCm39) H232R probably damaging Het
Map2k4 A G 11: 65,603,110 (GRCm39) I174T probably damaging Het
Mcc C G 18: 44,652,583 (GRCm39) probably benign Het
Mcm9 G A 10: 53,413,997 (GRCm39) T1099I possibly damaging Het
Nkapd1 A C 9: 50,521,725 (GRCm39) D65E probably damaging Het
Nqo2 T C 13: 34,165,490 (GRCm39) I129T probably benign Het
Pdgfrb T A 18: 61,197,998 (GRCm39) probably benign Het
Plac8 T A 5: 100,704,434 (GRCm39) T88S probably benign Het
Prss52 T G 14: 64,341,857 (GRCm39) V16G probably benign Het
Psmb9 G A 17: 34,403,277 (GRCm39) A80V probably benign Het
Ptprk T A 10: 28,468,891 (GRCm39) V1425E probably damaging Het
Scart2 G A 7: 139,876,310 (GRCm39) R594H probably benign Het
Scn2a T C 2: 65,500,859 (GRCm39) V7A possibly damaging Het
Serpini1 T C 3: 75,526,620 (GRCm39) Y291H probably damaging Het
Setd6 A G 8: 96,443,293 (GRCm39) K19E probably damaging Het
Siah2 T C 3: 58,583,713 (GRCm39) H191R probably benign Het
Slc27a2 T C 2: 126,409,806 (GRCm39) probably benign Het
Tbc1d10a T C 11: 4,163,680 (GRCm39) C277R probably damaging Het
Trim55 A C 3: 19,698,866 (GRCm39) M32L probably benign Het
Unc5b T C 10: 60,614,698 (GRCm39) T200A probably benign Het
Wrap53 A T 11: 69,454,712 (GRCm39) M219K probably damaging Het
Zfp790 G A 7: 29,525,113 (GRCm39) probably benign Het
Other mutations in Phf7
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0021:Phf7 UTSW 14 30,960,443 (GRCm39) splice site probably benign
R1331:Phf7 UTSW 14 30,962,362 (GRCm39) nonsense probably null
R1912:Phf7 UTSW 14 30,962,281 (GRCm39) missense possibly damaging 0.64
R5185:Phf7 UTSW 14 30,969,994 (GRCm39) splice site probably null
R6129:Phf7 UTSW 14 30,962,820 (GRCm39) missense probably damaging 1.00
R7035:Phf7 UTSW 14 30,961,183 (GRCm39) missense probably damaging 1.00
R7358:Phf7 UTSW 14 30,963,745 (GRCm39) missense probably benign 0.01
R7427:Phf7 UTSW 14 30,962,370 (GRCm39) missense possibly damaging 0.83
R7428:Phf7 UTSW 14 30,962,370 (GRCm39) missense possibly damaging 0.83
R7538:Phf7 UTSW 14 30,960,386 (GRCm39) missense probably benign
R7666:Phf7 UTSW 14 30,962,311 (GRCm39) missense probably damaging 0.98
R8891:Phf7 UTSW 14 30,971,613 (GRCm39) start gained probably benign
R8946:Phf7 UTSW 14 30,970,106 (GRCm39) splice site probably benign
Posted On 2012-11-27