Incidental Mutation 'R7035:Phf7'
ID 546631
Institutional Source Beutler Lab
Gene Symbol Phf7
Ensembl Gene ENSMUSG00000021902
Gene Name PHD finger protein 7
Synonyms 1700010P14Rik, 1700006H01Rik
MMRRC Submission 045136-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7035 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 30959646-30973274 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 30961183 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Glycine at position 231 (W231G)
Ref Sequence ENSEMBL: ENSMUSP00000022459 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022459] [ENSMUST00000226310] [ENSMUST00000226565] [ENSMUST00000228437] [ENSMUST00000228930]
AlphaFold Q9DAG9
PDB Structure Solution structure of PHD domain in PHD finger protein 7 [SOLUTION NMR]
Predicted Effect probably damaging
Transcript: ENSMUST00000022459
AA Change: W231G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022459
Gene: ENSMUSG00000021902
AA Change: W231G

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 probably damaging
Transcript: ENSMUST00000228437
AA Change: W136G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
Predicted Effect probably benign
Transcript: ENSMUST00000228930
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (70/70)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110032F04Rik T A 3: 68,777,272 (GRCm39) F78I probably benign Het
1700102P08Rik A T 9: 108,272,510 (GRCm39) D140V possibly damaging Het
6430548M08Rik A T 8: 120,879,225 (GRCm39) S208C probably damaging Het
Abcd4 G T 12: 84,662,123 (GRCm39) T41K probably damaging Het
Acaca C T 11: 84,129,769 (GRCm39) R375C probably damaging Het
Acad11 T A 9: 103,990,694 (GRCm39) V433D probably damaging Het
Adal T A 2: 120,985,942 (GRCm39) C226S probably benign Het
Aldh3b2 A T 19: 4,028,142 (GRCm39) M95L probably benign Het
Ano4 A G 10: 88,790,573 (GRCm39) F842S probably damaging Het
Ap5s1 T C 2: 131,054,732 (GRCm39) F181S probably damaging Het
Apba1 G A 19: 23,894,931 (GRCm39) D456N possibly damaging Het
Armh4 T A 14: 50,010,507 (GRCm39) H400L possibly damaging Het
Atp6v0a1 A C 11: 100,918,183 (GRCm39) Q199H probably damaging Het
Atp8a1 C G 5: 67,938,373 (GRCm39) G161A probably benign Het
Atxn2 C T 5: 121,949,530 (GRCm39) Q61* probably null Het
Cacna2d1 T A 5: 16,451,670 (GRCm39) I178K probably damaging Het
Catsperb A C 12: 101,381,593 (GRCm39) T92P probably damaging Het
Ccdc175 A G 12: 72,202,419 (GRCm39) I292T probably benign Het
Cep290 T A 10: 100,334,933 (GRCm39) S318T probably benign Het
Cfb T A 17: 35,079,007 (GRCm39) Y826F possibly damaging Het
Cntn1 C A 15: 92,212,392 (GRCm39) D851E probably benign Het
Coq6 A G 12: 84,415,415 (GRCm39) D146G probably damaging Het
Crem G A 18: 3,327,503 (GRCm39) T12I probably damaging Het
Dennd4c G A 4: 86,730,574 (GRCm39) V824I probably damaging Het
Dnase2b C T 3: 146,288,096 (GRCm39) C333Y probably damaging Het
Dop1a T A 9: 86,406,355 (GRCm39) F365I possibly damaging Het
Dysf A T 6: 84,163,374 (GRCm39) I1570F probably benign Het
Eml1 T A 12: 108,475,493 (GRCm39) C275S probably damaging Het
Fam135b A C 15: 71,334,102 (GRCm39) S1031A possibly damaging Het
Gga2 T C 7: 121,588,939 (GRCm39) D596G probably damaging Het
Gin1 A C 1: 97,720,100 (GRCm39) Y365S possibly damaging Het
Gipr T A 7: 18,896,809 (GRCm39) I154F probably damaging Het
Gm5478 A T 15: 101,553,632 (GRCm39) I284N possibly damaging Het
Gnat1 A T 9: 107,553,827 (GRCm39) probably benign Het
Gsdmc A T 15: 63,650,569 (GRCm39) probably null Het
Lama1 T A 17: 68,088,044 (GRCm39) I1554N Het
Mycbp2 T A 14: 103,412,417 (GRCm39) T2519S probably benign Het
Mylk G A 16: 34,797,352 (GRCm39) V1604M possibly damaging Het
Mypop C T 7: 18,725,922 (GRCm39) probably benign Het
Nol6 A T 4: 41,118,479 (GRCm39) V774E probably benign Het
Nol8 T C 13: 49,814,678 (GRCm39) V262A probably benign Het
Npepps A T 11: 97,113,965 (GRCm39) V637D probably damaging Het
Or1e16 T C 11: 73,286,544 (GRCm39) I101M probably benign Het
Or4f52 A G 2: 111,061,784 (GRCm39) M118T probably damaging Het
Or5p52 T C 7: 107,502,140 (GRCm39) V72A probably benign Het
Pcdhgb8 A T 18: 37,896,201 (GRCm39) I424F possibly damaging Het
Plagl1 A G 10: 13,003,977 (GRCm39) probably benign Het
Plat A T 8: 23,262,327 (GRCm39) D117V probably benign Het
Prkag2 T C 5: 25,152,564 (GRCm39) Y180C probably damaging Het
Prpf8 T C 11: 75,395,654 (GRCm39) I1927T possibly damaging Het
Ptchd1 T A X: 154,357,708 (GRCm39) Y499F probably damaging Het
Rad17 T A 13: 100,764,133 (GRCm39) D446V possibly damaging Het
Ralgapa2 G T 2: 146,353,777 (GRCm39) Q15K probably damaging Het
Ret A G 6: 118,140,247 (GRCm39) Y982H probably damaging Het
Rnf145 T A 11: 44,452,583 (GRCm39) S521T probably damaging Het
Samd4 G A 14: 47,326,620 (GRCm39) silent Het
Sardh T C 2: 27,120,854 (GRCm39) D390G probably damaging Het
Saxo1 T C 4: 86,363,359 (GRCm39) T375A probably damaging Het
Scly A G 1: 91,236,125 (GRCm39) T126A probably damaging Het
Slc6a16 T A 7: 44,910,251 (GRCm39) V307D probably damaging Het
Sned1 T C 1: 93,189,852 (GRCm39) C320R probably damaging Het
Sspo G A 6: 48,426,147 (GRCm39) probably null Het
Sycp2l C T 13: 41,310,973 (GRCm39) T645I unknown Het
Tpmt T C 13: 47,193,584 (GRCm39) K72E probably damaging Het
Tsbp1 C T 17: 34,679,305 (GRCm39) probably benign Het
Ube2q2l G A 6: 136,378,347 (GRCm39) T161M possibly damaging Het
Vmn1r51 A T 6: 90,106,207 (GRCm39) H41L probably benign Het
Wdfy3 A T 5: 102,003,415 (GRCm39) I2900N probably damaging Het
Zfp663 A G 2: 165,195,023 (GRCm39) S399P probably benign Het
Zfp692 T C 11: 58,200,268 (GRCm39) probably null 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
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
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'- AACTGGGTTCATCCTGAGGG -3'
(R):5'- TTAAAGAACCGAGCCCTGG -3'

Sequencing Primer
(F):5'- TTCATCCTGAGGGCTGCG -3'
(R):5'- GAGGAGTTGGAACCCCCATCTTG -3'
Posted On 2019-05-13