Incidental Mutation 'R7359:Pcif1'
ID 571170
Institutional Source Beutler Lab
Gene Symbol Pcif1
Ensembl Gene ENSMUSG00000039849
Gene Name phosphorylated CTD interacting factor 1
Synonyms F730014I05Rik, 2310022K11Rik
MMRRC Submission 045445-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.202) question?
Stock # R7359 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 164721288-164733360 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 164726251 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 51 (K51E)
Ref Sequence ENSEMBL: ENSMUSP00000039555 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041643]
AlphaFold P59114
Predicted Effect probably damaging
Transcript: ENSMUST00000041643
AA Change: K51E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000039555
Gene: ENSMUSG00000039849
AA Change: K51E

DomainStartEndE-ValueType
WW 44 77 4.34e-4 SMART
low complexity region 132 148 N/A INTRINSIC
Pfam:PCIF1_WW 445 620 7.1e-74 PFAM
low complexity region 675 686 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.8%
Validation Efficiency 99% (87/88)
Allele List at MGI
Other mutations in this stock
Total: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T C 12: 71,236,348 (GRCm39) V1233A possibly damaging Het
Abcc9 G A 6: 142,617,408 (GRCm39) T552I probably damaging Het
Adgrf4 T C 17: 42,978,003 (GRCm39) I447V possibly damaging Het
Akirin2 T A 4: 34,565,944 (GRCm39) D178E probably damaging Het
Arhgap12 T C 18: 6,065,709 (GRCm39) E359G possibly damaging Het
Arhgef5 A C 6: 43,257,216 (GRCm39) T1256P probably damaging Het
Avpr1a A C 10: 122,285,283 (GRCm39) I192L possibly damaging Het
B4galnt4 A G 7: 140,651,197 (GRCm39) H926R probably damaging Het
Bean1 CT C 8: 104,908,664 (GRCm39) probably null Het
Ccdc68 C T 18: 70,089,123 (GRCm39) A222V probably benign Het
Cdc23 T C 18: 34,774,394 (GRCm39) Y295C probably benign Het
Ceacam10 T C 7: 24,480,432 (GRCm39) Y188H unknown Het
Cfap57 T A 4: 118,456,162 (GRCm39) T511S probably benign Het
Cftr T C 6: 18,221,623 (GRCm39) V245A probably benign Het
Cit A G 5: 116,064,633 (GRCm39) D505G probably damaging Het
Cmah T G 13: 24,652,539 (GRCm39) N556K probably benign Het
Cspg4b T C 13: 113,478,964 (GRCm39) S1503P Het
D430041D05Rik C A 2: 104,044,482 (GRCm39) D839Y probably damaging Het
Dek T C 13: 47,259,065 (GRCm39) D47G unknown Het
Des C T 1: 75,337,596 (GRCm39) R179C probably damaging Het
Desi2 A G 1: 178,015,509 (GRCm39) N10D probably benign Het
Dlg5 T C 14: 24,214,615 (GRCm39) N679S probably damaging Het
Dnajc24 T C 2: 105,832,293 (GRCm39) Y30C probably damaging Het
Dock10 T A 1: 80,687,065 (GRCm39) H34L probably benign Het
Dock5 A G 14: 68,003,337 (GRCm39) V1586A probably benign Het
Dpy19l4 A G 4: 11,273,125 (GRCm39) V576A probably benign Het
Dusp6 A G 10: 99,099,927 (GRCm39) E125G probably benign Het
Dync1h1 T C 12: 110,591,036 (GRCm39) Y1035H probably benign Het
Dysf G A 6: 84,172,306 (GRCm39) probably null Het
En1 A G 1: 120,534,817 (GRCm39) K369E unknown Het
F2r A G 13: 95,741,194 (GRCm39) Y114H probably damaging Het
Fam184a T C 10: 53,575,318 (GRCm39) Y97C probably damaging Het
Fggy T C 4: 95,657,717 (GRCm39) V286A probably benign Het
Flot2 T C 11: 77,949,383 (GRCm39) I322T probably benign Het
Fndc1 A T 17: 8,032,318 (GRCm39) probably null Het
Frs3 A G 17: 48,010,450 (GRCm39) D28G probably damaging Het
Gimap3 C T 6: 48,742,280 (GRCm39) D217N probably benign Het
Gm128 A G 3: 95,147,934 (GRCm39) V120A probably benign Het
Gm17190 T C 13: 96,218,970 (GRCm39) V102A probably damaging Het
Gm17268 A G 11: 81,919,057 (GRCm39) V20A unknown Het
Grsf1 A T 5: 88,813,423 (GRCm39) probably null Het
Hmcn2 A T 2: 31,278,395 (GRCm39) Y1699F probably benign Het
Hnmt T A 2: 23,938,731 (GRCm39) M36L probably benign Het
Hoxd1 C A 2: 74,594,447 (GRCm39) T234K probably damaging Het
Hydin C G 8: 111,232,733 (GRCm39) S1679R probably damaging Het
Jag1 T C 2: 136,926,226 (GRCm39) R1059G probably benign Het
Kbtbd11 T C 8: 15,078,858 (GRCm39) W486R probably damaging Het
Kcnh6 A G 11: 105,909,789 (GRCm39) D438G possibly damaging Het
Lgals4 T G 7: 28,540,724 (GRCm39) F276V probably benign Het
Lrp6 G T 6: 134,427,923 (GRCm39) Y1556* probably null Het
Mpdz G A 4: 81,274,632 (GRCm39) L855F probably benign Het
Muc16 A T 9: 18,554,316 (GRCm39) D3992E unknown Het
Npc1 T C 18: 12,328,237 (GRCm39) N1024S probably benign Het
Nsfl1c A G 2: 151,336,279 (GRCm39) T18A probably benign Het
Or12e8 T A 2: 87,188,555 (GRCm39) L256I possibly damaging Het
Or12k5 A T 2: 36,895,449 (GRCm39) M59K probably damaging Het
Or2g7 G A 17: 38,378,506 (GRCm39) W148* probably null Het
Or8g31-ps1 T C 9: 39,276,775 (GRCm39) *307R probably null Het
Pcdh15 A T 10: 74,420,048 (GRCm39) K1235N probably damaging Het
Pde1b G A 15: 103,429,752 (GRCm39) D82N probably damaging Het
Phf23 T A 11: 69,889,467 (GRCm39) V167E possibly damaging Het
Pik3c2g T C 6: 139,913,620 (GRCm39) V1006A unknown Het
Pira12 T A 7: 3,901,103 (GRCm39) probably benign Het
Pkhd1l1 G T 15: 44,452,882 (GRCm39) V3936F probably damaging Het
Pnpla1 T C 17: 29,100,159 (GRCm39) V342A probably benign Het
Ppip5k1 T C 2: 121,171,329 (GRCm39) D620G possibly damaging Het
Ppl A G 16: 4,907,205 (GRCm39) L1030P possibly damaging Het
Prelid1 A T 13: 55,469,088 (GRCm39) probably benign Het
Racgap1 C T 15: 99,529,081 (GRCm39) S264N probably benign Het
Rdh13 T C 7: 4,430,696 (GRCm39) D289G probably benign Het
Rtp3 T C 9: 110,815,364 (GRCm39) I334V probably benign Het
Setd2 A T 9: 110,392,012 (GRCm39) D200V Het
Simc1 A G 13: 54,651,731 (GRCm39) S15G unknown Het
Sirpb1c A T 3: 15,887,389 (GRCm39) M150K probably benign Het
Smoc1 T A 12: 81,197,475 (GRCm39) D202E probably damaging Het
Spata31d1b A G 13: 59,860,304 (GRCm39) Y59C probably damaging Het
Stard9 A G 2: 120,528,761 (GRCm39) T1673A probably damaging Het
Tbc1d31 T A 15: 57,779,504 (GRCm39) H72Q probably benign Het
Tgfbrap1 C A 1: 43,114,693 (GRCm39) V136L probably damaging Het
Top2b A G 14: 16,407,376 (GRCm38) N720S probably null Het
Vmn1r11 T C 6: 57,115,184 (GRCm39) S283P probably damaging Het
Vmn1r19 A G 6: 57,382,080 (GRCm39) H211R probably damaging Het
Vmn2r44 A T 7: 8,370,538 (GRCm39) M836K probably benign Het
Vmn2r61 A C 7: 41,915,407 (GRCm39) H118P probably benign Het
Vps33a A G 5: 123,696,696 (GRCm39) I319T probably benign Het
Vwf T A 6: 125,543,220 (GRCm39) S151T Het
Zfp423 T C 8: 88,508,871 (GRCm39) N491S possibly damaging Het
Zfp626 T C 7: 27,507,660 (GRCm39) F23S probably damaging Het
Other mutations in Pcif1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01161:Pcif1 APN 2 164,727,708 (GRCm39) missense probably damaging 1.00
IGL01598:Pcif1 APN 2 164,728,531 (GRCm39) missense possibly damaging 0.86
R0313:Pcif1 UTSW 2 164,726,339 (GRCm39) missense probably damaging 0.97
R0329:Pcif1 UTSW 2 164,731,364 (GRCm39) missense probably damaging 1.00
R0330:Pcif1 UTSW 2 164,731,364 (GRCm39) missense probably damaging 1.00
R1070:Pcif1 UTSW 2 164,731,058 (GRCm39) missense probably benign 0.01
R1350:Pcif1 UTSW 2 164,728,687 (GRCm39) missense probably damaging 0.99
R1467:Pcif1 UTSW 2 164,731,058 (GRCm39) missense probably benign 0.01
R1467:Pcif1 UTSW 2 164,731,058 (GRCm39) missense probably benign 0.01
R1583:Pcif1 UTSW 2 164,728,647 (GRCm39) missense probably damaging 1.00
R1640:Pcif1 UTSW 2 164,727,603 (GRCm39) missense probably benign
R1852:Pcif1 UTSW 2 164,730,386 (GRCm39) missense probably damaging 0.97
R2252:Pcif1 UTSW 2 164,732,799 (GRCm39) missense probably benign 0.05
R2571:Pcif1 UTSW 2 164,726,131 (GRCm39) missense probably damaging 1.00
R3879:Pcif1 UTSW 2 164,727,878 (GRCm39) missense probably benign 0.40
R4956:Pcif1 UTSW 2 164,731,610 (GRCm39) missense probably damaging 1.00
R5792:Pcif1 UTSW 2 164,727,299 (GRCm39) missense probably damaging 0.97
R5913:Pcif1 UTSW 2 164,726,412 (GRCm39) intron probably benign
R6798:Pcif1 UTSW 2 164,727,711 (GRCm39) missense possibly damaging 0.94
R6913:Pcif1 UTSW 2 164,726,224 (GRCm39) critical splice acceptor site probably null
R7453:Pcif1 UTSW 2 164,731,550 (GRCm39) missense possibly damaging 0.94
R7453:Pcif1 UTSW 2 164,730,284 (GRCm39) missense probably damaging 1.00
R7917:Pcif1 UTSW 2 164,730,392 (GRCm39) missense probably benign 0.08
R8031:Pcif1 UTSW 2 164,728,442 (GRCm39) missense probably damaging 1.00
R8474:Pcif1 UTSW 2 164,730,272 (GRCm39) missense probably damaging 1.00
R8519:Pcif1 UTSW 2 164,726,303 (GRCm39) missense probably damaging 1.00
R8553:Pcif1 UTSW 2 164,728,417 (GRCm39) missense probably damaging 1.00
R8766:Pcif1 UTSW 2 164,727,346 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CCAATGAGAATCACGGCAGC -3'
(R):5'- TCGGCATTCAGACTGCTAC -3'

Sequencing Primer
(F):5'- AAGGAGCCTCCCTTCTAAGTC -3'
(R):5'- GCATTCAGACTGCTACAGTAATAATC -3'
Posted On 2019-09-13