Incidental Mutation 'R8768:Phrf1'
ID 664232
Institutional Source Beutler Lab
Gene Symbol Phrf1
Ensembl Gene ENSMUSG00000038611
Gene Name PHD and ring finger domains 1
Synonyms
MMRRC Submission 068623-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8768 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 140808697-140842663 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 140838651 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 615 (F615L)
Ref Sequence ENSEMBL: ENSMUSP00000113195 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026571] [ENSMUST00000097952] [ENSMUST00000106023] [ENSMUST00000106027] [ENSMUST00000122143] [ENSMUST00000132540] [ENSMUST00000155123] [ENSMUST00000209899]
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: F774L
SMART Domains Protein: ENSMUSP00000101648
Gene: ENSMUSG00000038611
AA Change: F774L

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: F615L
SMART Domains Protein: ENSMUSP00000113195
Gene: ENSMUSG00000038611
AA Change: F615L

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 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 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
Predicted Effect probably benign
Transcript: ENSMUST00000132540
Predicted Effect probably benign
Transcript: ENSMUST00000142572
SMART Domains Protein: ENSMUSP00000117393
Gene: ENSMUSG00000038611

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 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: ENSMUST00000209899
Meta Mutation Damage Score 0.0725 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 99% (76/77)
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr1b A T 1: 36,740,588 (GRCm39) C222S probably benign Het
Actrt3 T G 3: 30,651,992 (GRCm39) R367S probably damaging Het
Alg1 T C 16: 5,060,416 (GRCm39) V379A probably damaging Het
Ankrd36 A G 11: 5,593,763 (GRCm39) E456G probably benign Het
Arhgef33 G T 17: 80,681,148 (GRCm39) A763S possibly damaging Het
Armc5 T G 7: 127,841,783 (GRCm39) V597G probably benign Het
Asb10 G T 5: 24,738,690 (GRCm39) R456S probably damaging Het
Asph A G 4: 9,453,417 (GRCm39) F702L probably damaging Het
Atf7 T A 15: 102,449,324 (GRCm39) T326S probably benign Het
Atxn7l2 T C 3: 108,114,250 (GRCm39) N171D probably benign Het
BC049715 T A 6: 136,816,979 (GRCm39) M73K possibly damaging Het
C2cd6 A G 1: 59,105,312 (GRCm39) V322A probably benign Het
Cadps2 A C 6: 23,382,938 (GRCm39) C807W probably damaging Het
Ccdc57 C T 11: 120,788,788 (GRCm39) R353H probably benign Het
Ccdc89 T C 7: 90,075,793 (GRCm39) M1T probably null Het
Cntn1 G A 15: 92,132,347 (GRCm39) V148M probably damaging Het
Csmd3 T A 15: 47,561,572 (GRCm39) I1335F Het
Dap3 A G 3: 88,834,334 (GRCm39) M294T probably damaging Het
Dbh A G 2: 27,060,328 (GRCm39) D168G probably benign Het
Dchs2 C A 3: 83,253,592 (GRCm39) A2334E probably benign Het
Dcun1d4 T A 5: 73,678,310 (GRCm39) Y102N probably benign Het
Dhtkd1 T C 2: 5,903,533 (GRCm39) T918A probably benign Het
Dmgdh C T 13: 93,825,118 (GRCm39) T147I possibly damaging Het
Dmxl2 T G 9: 54,301,105 (GRCm39) K2335N possibly damaging Het
Efna5 T C 17: 63,188,125 (GRCm39) M1V probably null Het
Fpr-rs3 T C 17: 20,844,944 (GRCm39) N66D probably damaging Het
Gas2l2 C A 11: 83,313,999 (GRCm39) A438S probably benign Het
Hivep3 T C 4: 119,989,521 (GRCm39) S1991P probably damaging Het
Hsp90b1 A T 10: 86,541,169 (GRCm39) probably null Het
Iars1 T A 13: 49,878,102 (GRCm39) N875K probably damaging Het
Jag1 A C 2: 136,943,521 (GRCm39) M225R possibly damaging Het
Jag1 T C 2: 136,932,708 (GRCm39) probably benign Het
Kcnn2 C T 18: 45,692,502 (GRCm39) S26L possibly damaging Het
Kctd2 T C 11: 115,311,279 (GRCm39) S96P probably damaging Het
Klhl25 A G 7: 75,516,359 (GRCm39) N422D probably damaging Het
Lhx8 A T 3: 154,027,886 (GRCm39) V222E possibly damaging Het
Lrig1 A T 6: 94,631,840 (GRCm39) V120D possibly damaging Het
Manba T A 3: 135,256,995 (GRCm39) S553T probably damaging Het
Mllt10 T A 2: 18,167,583 (GRCm39) S503T probably damaging Het
Nxpe4 A G 9: 48,304,050 (GRCm39) N46D probably benign Het
Or1l4b C T 2: 37,037,016 (GRCm39) S264L probably benign Het
Or8b50 A C 9: 38,518,441 (GRCm39) K227Q probably benign Het
Pdzd2 C T 15: 12,437,252 (GRCm39) E450K probably damaging Het
Plch2 C A 4: 155,083,324 (GRCm39) G538V probably damaging Het
Ppp2r2d T A 7: 138,475,897 (GRCm39) I235N probably damaging Het
Prdm15 A T 16: 97,638,888 (GRCm39) D57E probably benign Het
Psd3 T C 8: 68,417,003 (GRCm39) D45G probably damaging Het
Ptger4 T A 15: 5,272,138 (GRCm39) R185S probably benign Het
Ptp4a2 T A 4: 129,740,299 (GRCm39) M121K probably damaging Het
Ptpre T G 7: 135,283,306 (GRCm39) F659V possibly damaging Het
Rad54l2 T G 9: 106,596,809 (GRCm39) D199A probably benign Het
Rap1gds1 T C 3: 138,647,521 (GRCm39) M556V probably benign Het
Scaf8 T C 17: 3,243,349 (GRCm39) V711A probably benign Het
Sesn3 G A 9: 14,225,964 (GRCm39) C233Y probably damaging Het
Slc45a1 T A 4: 150,714,206 (GRCm39) I680F probably damaging Het
Slco1a6 C T 6: 142,078,897 (GRCm39) V133M probably benign Het
Syt6 T C 3: 103,492,850 (GRCm39) L119P probably benign Het
Szt2 A C 4: 118,226,613 (GRCm39) S2974R unknown Het
Taok1 A T 11: 77,444,712 (GRCm39) H454Q probably damaging Het
Tbx10 G A 19: 4,047,303 (GRCm39) V136M probably damaging Het
Tespa1 A G 10: 130,198,027 (GRCm39) T350A probably benign Het
Tnks1bp1 T A 2: 84,900,980 (GRCm39) Y1562* probably null Het
Trank1 T A 9: 111,218,344 (GRCm39) F1908Y probably benign Het
Trav6d-4 A T 14: 52,991,243 (GRCm39) H96L possibly damaging Het
Tspoap1 T C 11: 87,669,197 (GRCm39) I1490T probably benign Het
Ttc21a T C 9: 119,770,286 (GRCm39) F119S probably damaging Het
Ttll3 T G 6: 113,385,949 (GRCm39) M594R probably damaging Het
Ttn T A 2: 76,798,790 (GRCm39) R495* probably null Het
Twf1 A C 15: 94,479,110 (GRCm39) L250V probably damaging Het
Ubr4 A T 4: 139,149,076 (GRCm39) E458D Het
Unc50 T C 1: 37,476,244 (GRCm39) F135L probably benign Het
Vwa3a T A 7: 120,375,299 (GRCm39) I371N probably damaging Het
Zfp180 T C 7: 23,805,161 (GRCm39) S527P probably damaging Het
Zfp512 T A 5: 31,630,882 (GRCm39) I408N probably damaging Het
Zfp57 A G 17: 37,317,077 (GRCm39) T52A probably benign Het
Zranb2 A G 3: 157,247,327 (GRCm39) 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
R4080:Phrf1 UTSW 7 140,839,633 (GRCm39) unclassified probably benign
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
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'- AGGATACCAAAGATCCATCGGG -3'
(R):5'- GGTCAAAGGGGTCATAGATTTCG -3'

Sequencing Primer
(F):5'- TAGCACTTGCATCAGCCG -3'
(R):5'- CAAAGGGGTCATAGATTTCGCTTTTG -3'
Posted On 2021-03-08