Incidental Mutation 'R1331:Phf7'
ID 156214
Institutional Source Beutler Lab
Gene Symbol Phf7
Ensembl Gene ENSMUSG00000021902
Gene Name PHD finger protein 7
Synonyms 1700010P14Rik, 1700006H01Rik
MMRRC Submission 039396-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1331 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 30959646-30973274 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 30962362 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 148 (Q148*)
Ref Sequence ENSEMBL: ENSMUSP00000154095 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022459] [ENSMUST00000226310] [ENSMUST00000226565] [ENSMUST00000228437] [ENSMUST00000228930]
AlphaFold Q9DAG9
Predicted Effect probably null
Transcript: ENSMUST00000022459
AA Change: Q148*
SMART Domains Protein: ENSMUSP00000022459
Gene: ENSMUSG00000021902
AA Change: Q148*

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 silent
Transcript: ENSMUST00000226310
Predicted Effect probably null
Transcript: ENSMUST00000226565
AA Change: Q148*
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227668
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228140
Predicted Effect probably benign
Transcript: ENSMUST00000228437
Predicted Effect probably benign
Transcript: ENSMUST00000228930
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.2%
  • 20x: 93.0%
Validation Efficiency 100% (59/59)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap1 A T 11: 69,773,202 (GRCm39) probably null Het
Acat1 T C 9: 53,496,183 (GRCm39) D318G probably benign Het
Ahdc1 T C 4: 132,791,002 (GRCm39) F748L probably benign Het
Alkbh8 T A 9: 3,347,916 (GRCm39) probably null Het
Arhgef26 A G 3: 62,247,449 (GRCm39) T178A probably benign Het
Bid C T 6: 120,874,216 (GRCm39) A110T possibly damaging Het
Ccdc180 T C 4: 45,909,359 (GRCm39) V509A possibly damaging Het
Ccdc39 T C 3: 33,869,634 (GRCm39) E731G probably benign Het
Cenpf A G 1: 189,374,998 (GRCm39) V2931A probably damaging Het
Cobl A T 11: 12,325,853 (GRCm39) N207K probably damaging Het
Col14a1 T A 15: 55,273,584 (GRCm39) W718R unknown Het
Dnah7a A G 1: 53,507,828 (GRCm39) I3081T probably damaging Het
Dync1h1 T C 12: 110,615,698 (GRCm39) V2977A probably damaging Het
Ephb4 A G 5: 137,364,796 (GRCm39) probably benign Het
Eri3 T C 4: 117,422,104 (GRCm39) probably benign Het
Fbxo24 A G 5: 137,617,891 (GRCm39) V291A probably damaging Het
Glra1 A C 11: 55,405,896 (GRCm39) S282A probably benign Het
Gm7589 C A 9: 59,053,325 (GRCm39) noncoding transcript Het
H6pd T C 4: 150,066,872 (GRCm39) N505D probably benign Het
Hdlbp T A 1: 93,348,853 (GRCm39) N566Y probably damaging Het
Hsp90aa1 C A 12: 110,659,254 (GRCm39) K514N probably damaging Het
Impdh1 A T 6: 29,206,477 (GRCm39) V120D probably damaging Het
Katnip A G 7: 125,465,627 (GRCm39) T1360A probably benign Het
Loxhd1 C T 18: 77,490,632 (GRCm39) P1411S possibly damaging Het
Lpl A G 8: 69,349,281 (GRCm39) E269G probably damaging Het
Map1a G T 2: 121,136,701 (GRCm39) E2268* probably null Het
Mark1 T C 1: 184,660,245 (GRCm39) E137G probably damaging Het
Mki67 A T 7: 135,300,005 (GRCm39) S1676R possibly damaging Het
Mogat2 T C 7: 98,872,722 (GRCm39) Y154C possibly damaging Het
Myo18a C G 11: 77,732,405 (GRCm39) I859M probably benign Het
Myo7a A G 7: 97,756,215 (GRCm39) V39A probably benign Het
Nedd4 T A 9: 72,584,668 (GRCm39) I123N probably damaging Het
Obscn A G 11: 58,977,754 (GRCm39) V1966A probably benign Het
Or7g33 T C 9: 19,448,842 (GRCm39) N128S probably benign Het
Orc3 T G 4: 34,599,748 (GRCm39) N77T probably benign Het
Penk A G 4: 4,134,287 (GRCm39) M120T probably benign Het
Pkhd1l1 G A 15: 44,368,943 (GRCm39) V863I probably damaging Het
Pkhd1l1 C T 15: 44,452,993 (GRCm39) R3973C probably damaging Het
Polq C T 16: 36,862,109 (GRCm39) T264M probably damaging Het
Ptprb A T 10: 116,203,437 (GRCm39) T2070S probably damaging Het
Ralgapb T C 2: 158,272,453 (GRCm39) F169S probably damaging Het
Rapgef5 G T 12: 117,685,084 (GRCm39) A278S probably benign Het
Ripor2 G T 13: 24,861,824 (GRCm39) E203* probably null Het
Setx T C 2: 29,069,698 (GRCm39) L2501P probably benign Het
Sh3bgrl2 C T 9: 83,459,684 (GRCm39) probably benign Het
Slc35b1 T A 11: 95,276,689 (GRCm39) V56D probably damaging Het
Slc45a4 C T 15: 73,458,596 (GRCm39) D326N probably benign Het
Stard9 C A 2: 120,504,117 (GRCm39) S221R probably damaging Het
Stat4 T A 1: 52,053,086 (GRCm39) V89D probably benign Het
Tek T A 4: 94,627,943 (GRCm39) probably benign Het
Tert T A 13: 73,796,473 (GRCm39) F1068Y probably damaging Het
Trim33 T A 3: 103,217,670 (GRCm39) I205K probably damaging Het
Vmn1r212 A T 13: 23,067,562 (GRCm39) I257K probably benign Het
Other mutations in Phf7
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0021:Phf7 UTSW 14 30,960,443 (GRCm39) splice site probably benign
R0021:Phf7 UTSW 14 30,960,443 (GRCm39) splice site probably benign
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
Predicted Primers PCR Primer
(F):5'- AGAATGCCCTGGTTCCAAGCAC -3'
(R):5'- CCGGTTCTCAGGAGACTGTTTTGAC -3'

Sequencing Primer
(F):5'- TGGTTCCAAGCACAGGGC -3'
(R):5'- TCCTCCATAGCTCAGTGGGTAAG -3'
Posted On 2014-02-11