Incidental Mutation 'R4080:Phrf1'
ID 316817
Institutional Source Beutler Lab
Gene Symbol Phrf1
Ensembl Gene ENSMUSG00000038611
Gene Name PHD and ring finger domains 1
Synonyms
MMRRC Submission 040856-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4080 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 140808697-140842663 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 140839633 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000147529 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026571] [ENSMUST00000097952] [ENSMUST00000106023] [ENSMUST00000106027] [ENSMUST00000122143] [ENSMUST00000209899] [ENSMUST00000132540] [ENSMUST00000155123]
AlphaFold A6H619
Predicted Effect probably benign
Transcript: ENSMUST00000026571
SMART Domains Protein: ENSMUSP00000026571
Gene: ENSMUSG00000025498

DomainStartEndE-ValueType
IRF 5 127 1.13e-54 SMART
IRF-3 240 420 1.38e-63 SMART
low complexity region 425 442 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000097952
SMART Domains Protein: ENSMUSP00000095565
Gene: ENSMUSG00000025498

DomainStartEndE-ValueType
IRF 5 127 1.13e-54 SMART
IRF-3 209 389 1.38e-63 SMART
low complexity region 394 411 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106023
SMART Domains Protein: ENSMUSP00000101644
Gene: ENSMUSG00000025498

DomainStartEndE-ValueType
IRF 5 127 1.13e-54 SMART
IRF-3 208 388 1.38e-63 SMART
low complexity region 393 410 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000106027
AA Change: S1102P
SMART Domains Protein: ENSMUSP00000101648
Gene: ENSMUSG00000038611
AA Change: S1102P

DomainStartEndE-ValueType
low complexity region 24 35 N/A INTRINSIC
low complexity region 39 70 N/A INTRINSIC
RING 109 149 3.78e-5 SMART
C1 173 229 7.05e-2 SMART
PHD 187 233 1.77e-14 SMART
RING 188 232 3.17e0 SMART
low complexity region 332 369 N/A INTRINSIC
low complexity region 491 505 N/A INTRINSIC
low complexity region 507 522 N/A INTRINSIC
low complexity region 717 728 N/A INTRINSIC
low complexity region 831 857 N/A INTRINSIC
low complexity region 891 902 N/A INTRINSIC
low complexity region 944 955 N/A INTRINSIC
low complexity region 965 976 N/A INTRINSIC
low complexity region 999 1020 N/A INTRINSIC
low complexity region 1027 1043 N/A INTRINSIC
low complexity region 1051 1090 N/A INTRINSIC
low complexity region 1094 1151 N/A INTRINSIC
low complexity region 1160 1173 N/A INTRINSIC
low complexity region 1217 1241 N/A INTRINSIC
low complexity region 1245 1261 N/A INTRINSIC
low complexity region 1288 1306 N/A INTRINSIC
low complexity region 1308 1319 N/A INTRINSIC
low complexity region 1359 1376 N/A INTRINSIC
low complexity region 1426 1441 N/A INTRINSIC
low complexity region 1575 1592 N/A INTRINSIC
Blast:IG_like 1593 1636 4e-14 BLAST
Predicted Effect unknown
Transcript: ENSMUST00000122143
AA Change: S943P
SMART Domains Protein: ENSMUSP00000113195
Gene: ENSMUSG00000038611
AA Change: S943P

DomainStartEndE-ValueType
C1 14 70 7.05e-2 SMART
PHD 28 74 1.77e-14 SMART
low complexity region 173 210 N/A INTRINSIC
low complexity region 332 346 N/A INTRINSIC
low complexity region 348 363 N/A INTRINSIC
low complexity region 558 569 N/A INTRINSIC
low complexity region 672 698 N/A INTRINSIC
low complexity region 732 743 N/A INTRINSIC
low complexity region 785 796 N/A INTRINSIC
low complexity region 806 817 N/A INTRINSIC
low complexity region 840 861 N/A INTRINSIC
low complexity region 868 884 N/A INTRINSIC
low complexity region 892 931 N/A INTRINSIC
low complexity region 935 992 N/A INTRINSIC
low complexity region 1001 1014 N/A INTRINSIC
low complexity region 1058 1082 N/A INTRINSIC
low complexity region 1086 1102 N/A INTRINSIC
low complexity region 1129 1147 N/A INTRINSIC
low complexity region 1149 1160 N/A INTRINSIC
low complexity region 1200 1217 N/A INTRINSIC
low complexity region 1267 1282 N/A INTRINSIC
low complexity region 1416 1433 N/A INTRINSIC
Blast:IG_like 1434 1477 4e-14 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122868
Predicted Effect probably benign
Transcript: ENSMUST00000123525
SMART Domains Protein: ENSMUSP00000121026
Gene: ENSMUSG00000025498

DomainStartEndE-ValueType
IRF 1 69 6.35e-3 SMART
IRF-3 77 251 2.62e-55 SMART
Predicted Effect unknown
Transcript: ENSMUST00000142572
AA Change: S177P
SMART Domains Protein: ENSMUSP00000117393
Gene: ENSMUSG00000038611
AA Change: S177P

DomainStartEndE-ValueType
low complexity region 20 31 N/A INTRINSIC
low complexity region 41 52 N/A INTRINSIC
low complexity region 75 96 N/A INTRINSIC
low complexity region 103 119 N/A INTRINSIC
low complexity region 127 166 N/A INTRINSIC
low complexity region 170 227 N/A INTRINSIC
low complexity region 236 249 N/A INTRINSIC
low complexity region 293 317 N/A INTRINSIC
low complexity region 321 337 N/A INTRINSIC
low complexity region 364 382 N/A INTRINSIC
low complexity region 384 395 N/A INTRINSIC
low complexity region 435 452 N/A INTRINSIC
low complexity region 666 683 N/A INTRINSIC
Blast:IG_like 684 727 3e-14 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127223
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155744
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210506
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144250
Predicted Effect probably benign
Transcript: ENSMUST00000209899
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131399
Predicted Effect probably benign
Transcript: ENSMUST00000132540
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148414
Predicted Effect probably benign
Transcript: ENSMUST00000155123
SMART Domains Protein: ENSMUSP00000120759
Gene: ENSMUSG00000038611

DomainStartEndE-ValueType
low complexity region 24 35 N/A INTRINSIC
low complexity region 39 70 N/A INTRINSIC
RING 109 149 3.78e-5 SMART
Blast:C1 165 209 2e-17 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000130687
SMART Domains Protein: ENSMUSP00000123351
Gene: ENSMUSG00000038611

DomainStartEndE-ValueType
low complexity region 33 50 N/A INTRINSIC
low complexity region 100 115 N/A INTRINSIC
low complexity region 224 241 N/A INTRINSIC
Blast:IG_like 242 285 5e-15 BLAST
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass A T 6: 23,109,497 (GRCm39) D324E possibly damaging Het
Adam7 T C 14: 68,757,988 (GRCm39) T245A probably benign Het
Adgrf3 G A 5: 30,402,367 (GRCm39) Q554* probably null Het
Aim2 T C 1: 173,287,417 (GRCm39) probably null Het
Arhgef1 G T 7: 24,625,271 (GRCm39) D850Y probably damaging Het
Aspm C A 1: 139,398,493 (GRCm39) Q1024K probably damaging Het
C7 T C 15: 5,019,946 (GRCm39) S734G probably benign Het
Ccdc158 A T 5: 92,771,255 (GRCm39) S987T probably benign Het
Chrna2 C A 14: 66,380,873 (GRCm39) Y47* probably null Het
Chrna2 G T 14: 66,380,866 (GRCm39) G45V probably benign Het
Clec2g C A 6: 128,958,287 (GRCm39) Q117K probably damaging Het
Cntnap5a A G 1: 116,029,304 (GRCm39) S253G probably benign Het
Cttn T A 7: 144,011,461 (GRCm39) D116V probably damaging Het
Cyp2c40 A G 19: 39,790,973 (GRCm39) V286A probably benign Het
Dcbld2 T A 16: 58,285,736 (GRCm39) S632T probably damaging Het
Dscam A T 16: 96,484,972 (GRCm39) N1118K probably benign Het
Eif2a C T 3: 58,447,050 (GRCm39) T92M possibly damaging Het
Frmpd1 T A 4: 45,284,382 (GRCm39) C1068S probably benign Het
Fstl1 G A 16: 37,642,965 (GRCm39) V110I probably benign Het
Gpat2 T C 2: 127,275,542 (GRCm39) I465T probably damaging Het
Gpr137 C T 19: 6,917,791 (GRCm39) probably benign Het
Hgsnat A G 8: 26,436,371 (GRCm39) I561T probably benign Het
Ift74 T A 4: 94,541,149 (GRCm39) probably null Het
Ilf3 A G 9: 21,314,430 (GRCm39) probably null Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Lrrc41 C A 4: 115,937,743 (GRCm39) probably null Het
Myh11 C A 16: 14,041,923 (GRCm39) R700L possibly damaging Het
Myo16 A G 8: 10,612,240 (GRCm39) D1295G probably damaging Het
Myo5b A G 18: 74,873,559 (GRCm39) M1488V probably benign Het
Naip6 A T 13: 100,435,815 (GRCm39) Y903N probably damaging Het
Nek6 A G 2: 38,440,649 (GRCm39) H19R probably damaging Het
Nktr A C 9: 121,570,192 (GRCm39) T127P probably damaging Het
Noc4l A T 5: 110,797,738 (GRCm39) D335E probably benign Het
Nsd1 A G 13: 55,449,622 (GRCm39) D1993G probably damaging Het
Or1ad1 G A 11: 50,875,683 (GRCm39) D52N probably damaging Het
Or5h22 A T 16: 58,894,619 (GRCm39) F275I probably damaging Het
Pabpc2 A T 18: 39,908,583 (GRCm39) Q616L possibly damaging Het
Pcdhga4 A T 18: 37,818,832 (GRCm39) D127V probably damaging Het
Phtf2 T A 5: 21,018,294 (GRCm39) I16F probably damaging Het
Plekhg3 G T 12: 76,624,755 (GRCm39) R1200L probably benign Het
Plod3 G C 5: 137,017,000 (GRCm39) A50P probably benign Het
Prorp G T 12: 55,351,398 (GRCm39) V236F possibly damaging Het
Prss12 A G 3: 123,279,134 (GRCm39) N404D probably benign Het
Ptch2 C G 4: 116,968,403 (GRCm39) A926G probably damaging Het
Ptpra T C 2: 30,333,317 (GRCm39) F6L probably damaging Het
Reck T C 4: 43,942,293 (GRCm39) I853T possibly damaging Het
Reep6 G A 10: 80,165,996 (GRCm39) probably benign Het
Rex2 T A 4: 147,143,154 (GRCm39) S547R probably benign Het
Rgs22 C T 15: 36,107,222 (GRCm39) E55K probably damaging Het
Rtl6 T C 15: 84,441,202 (GRCm39) T65A possibly damaging Het
Scarb1 G T 5: 125,354,859 (GRCm39) P491Q probably damaging Het
Scfd1 A G 12: 51,478,302 (GRCm39) S505G probably benign Het
Scube1 T G 15: 83,492,948 (GRCm39) Q904P probably damaging Het
Sis T C 3: 72,828,517 (GRCm39) Y1186C probably damaging Het
Spta1 A G 1: 174,041,632 (GRCm39) D1334G probably benign Het
Spty2d1 T C 7: 46,648,329 (GRCm39) E200G probably damaging Het
Stard13 C A 5: 151,016,294 (GRCm39) probably null Het
Sybu T C 15: 44,582,339 (GRCm39) K95R probably damaging Het
Trappc9 T A 15: 72,813,796 (GRCm39) D488V probably damaging Het
Txk G A 5: 72,858,006 (GRCm39) P381S probably damaging Het
Ubr2 A T 17: 47,299,648 (GRCm39) M198K probably benign Het
Unc5a A T 13: 55,152,294 (GRCm39) T786S possibly damaging Het
Unc93b1 G A 19: 3,991,959 (GRCm39) R231Q probably damaging Het
Wfdc1 T A 8: 120,410,532 (GRCm39) probably null Het
Zfp667 T G 7: 6,308,105 (GRCm39) C258G possibly damaging Het
Zfr G A 15: 12,162,319 (GRCm39) R823H probably benign Het
Other mutations in Phrf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00551:Phrf1 APN 7 140,838,790 (GRCm39) unclassified probably benign
IGL01391:Phrf1 APN 7 140,842,394 (GRCm39) missense probably damaging 1.00
IGL01472:Phrf1 APN 7 140,836,403 (GRCm39) splice site probably benign
IGL01633:Phrf1 APN 7 140,840,413 (GRCm39) missense probably benign 0.43
IGL01808:Phrf1 APN 7 140,840,879 (GRCm39) missense probably damaging 1.00
IGL02004:Phrf1 APN 7 140,840,246 (GRCm39) missense probably benign 0.39
IGL02138:Phrf1 APN 7 140,839,196 (GRCm39) unclassified probably benign
IGL02678:Phrf1 APN 7 140,840,195 (GRCm39) missense probably damaging 1.00
IGL03077:Phrf1 APN 7 140,834,881 (GRCm39) nonsense probably null
PIT4466001:Phrf1 UTSW 7 140,838,725 (GRCm39) missense unknown
R0036:Phrf1 UTSW 7 140,841,693 (GRCm39) missense probably damaging 1.00
R0036:Phrf1 UTSW 7 140,841,693 (GRCm39) missense probably damaging 1.00
R0040:Phrf1 UTSW 7 140,823,770 (GRCm39) missense probably damaging 1.00
R0358:Phrf1 UTSW 7 140,838,217 (GRCm39) unclassified probably benign
R0445:Phrf1 UTSW 7 140,827,244 (GRCm39) utr 3 prime probably benign
R0535:Phrf1 UTSW 7 140,839,978 (GRCm39) missense probably benign 0.07
R0561:Phrf1 UTSW 7 140,834,876 (GRCm39) missense probably benign 0.00
R0940:Phrf1 UTSW 7 140,834,768 (GRCm39) splice site probably benign
R1499:Phrf1 UTSW 7 140,836,564 (GRCm39) missense probably damaging 1.00
R1511:Phrf1 UTSW 7 140,839,714 (GRCm39) unclassified probably benign
R1651:Phrf1 UTSW 7 140,817,434 (GRCm39) missense probably benign
R1691:Phrf1 UTSW 7 140,841,787 (GRCm39) nonsense probably null
R1778:Phrf1 UTSW 7 140,812,369 (GRCm39) missense probably benign 0.01
R1851:Phrf1 UTSW 7 140,820,831 (GRCm39) missense probably damaging 1.00
R2239:Phrf1 UTSW 7 140,817,605 (GRCm39) missense probably damaging 1.00
R2857:Phrf1 UTSW 7 140,839,593 (GRCm39) unclassified probably benign
R3796:Phrf1 UTSW 7 140,839,831 (GRCm39) nonsense probably null
R3797:Phrf1 UTSW 7 140,839,831 (GRCm39) nonsense probably null
R3798:Phrf1 UTSW 7 140,839,831 (GRCm39) nonsense probably null
R3799:Phrf1 UTSW 7 140,839,831 (GRCm39) nonsense probably null
R4081:Phrf1 UTSW 7 140,838,970 (GRCm39) unclassified probably benign
R4557:Phrf1 UTSW 7 140,838,842 (GRCm39) unclassified probably benign
R5217:Phrf1 UTSW 7 140,840,616 (GRCm39) missense probably damaging 1.00
R5218:Phrf1 UTSW 7 140,841,214 (GRCm39) missense possibly damaging 0.94
R5276:Phrf1 UTSW 7 140,839,196 (GRCm39) unclassified probably benign
R5442:Phrf1 UTSW 7 140,820,850 (GRCm39) missense probably damaging 1.00
R5501:Phrf1 UTSW 7 140,839,834 (GRCm39) missense possibly damaging 0.91
R5695:Phrf1 UTSW 7 140,838,378 (GRCm39) unclassified probably benign
R5837:Phrf1 UTSW 7 140,839,974 (GRCm39) missense probably benign 0.34
R5907:Phrf1 UTSW 7 140,840,453 (GRCm39) missense possibly damaging 0.79
R5996:Phrf1 UTSW 7 140,839,015 (GRCm39) unclassified probably benign
R6024:Phrf1 UTSW 7 140,838,898 (GRCm39) unclassified probably benign
R6244:Phrf1 UTSW 7 140,817,586 (GRCm39) missense probably damaging 1.00
R6512:Phrf1 UTSW 7 140,840,309 (GRCm39) missense possibly damaging 0.88
R7016:Phrf1 UTSW 7 140,817,476 (GRCm39) missense probably damaging 0.98
R7311:Phrf1 UTSW 7 140,820,846 (GRCm39) missense unknown
R7409:Phrf1 UTSW 7 140,839,205 (GRCm39) missense unknown
R7517:Phrf1 UTSW 7 140,836,523 (GRCm39) missense unknown
R7560:Phrf1 UTSW 7 140,811,138 (GRCm39) critical splice acceptor site probably null
R7699:Phrf1 UTSW 7 140,834,842 (GRCm39) missense unknown
R7700:Phrf1 UTSW 7 140,834,842 (GRCm39) missense unknown
R7867:Phrf1 UTSW 7 140,836,524 (GRCm39) missense unknown
R7895:Phrf1 UTSW 7 140,839,288 (GRCm39) missense unknown
R8179:Phrf1 UTSW 7 140,836,493 (GRCm39) missense unknown
R8705:Phrf1 UTSW 7 140,838,651 (GRCm39) missense unknown
R8708:Phrf1 UTSW 7 140,812,446 (GRCm39) missense unknown
R8748:Phrf1 UTSW 7 140,838,148 (GRCm39) missense unknown
R8768:Phrf1 UTSW 7 140,838,651 (GRCm39) missense unknown
R8789:Phrf1 UTSW 7 140,836,581 (GRCm39) missense unknown
R8859:Phrf1 UTSW 7 140,836,516 (GRCm39) missense unknown
R8991:Phrf1 UTSW 7 140,823,671 (GRCm39) missense unknown
R9086:Phrf1 UTSW 7 140,839,412 (GRCm39) missense unknown
R9158:Phrf1 UTSW 7 140,836,466 (GRCm39) missense unknown
R9287:Phrf1 UTSW 7 140,840,055 (GRCm39) missense probably benign 0.35
R9561:Phrf1 UTSW 7 140,834,815 (GRCm39) missense unknown
X0027:Phrf1 UTSW 7 140,836,481 (GRCm39) missense probably benign
Z1176:Phrf1 UTSW 7 140,838,731 (GRCm39) missense unknown
Z1176:Phrf1 UTSW 7 140,823,796 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- TCTCCAGTTGCTGAGGAACAC -3'
(R):5'- TGGCCTATGCTCCAAGCTAG -3'

Sequencing Primer
(F):5'- TTGCTGAGGAACACACCAG -3'
(R):5'- TATGCTCCAAGCTAGGCGAC -3'
Posted On 2015-05-15