Incidental Mutation 'R1651:Phrf1'
ID 186388
Institutional Source Beutler Lab
Gene Symbol Phrf1
Ensembl Gene ENSMUSG00000038611
Gene Name PHD and ring finger domains 1
Synonyms
MMRRC Submission 039687-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1651 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 140808697-140842663 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 140817434 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 81 (V81A)
Ref Sequence ENSEMBL: ENSMUSP00000120759 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106027] [ENSMUST00000155123]
AlphaFold A6H619
Predicted Effect unknown
Transcript: ENSMUST00000106027
AA Change: V81A
SMART Domains Protein: ENSMUSP00000101648
Gene: ENSMUSG00000038611
AA Change: V81A

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 noncoding transcript
Transcript: ENSMUST00000134057
SMART Domains Protein: ENSMUSP00000118425
Gene: ENSMUSG00000038611

DomainStartEndE-ValueType
RING 27 67 3.78e-5 SMART
C1 91 147 7.05e-2 SMART
PHD 105 151 1.77e-14 SMART
RING 106 150 3.17e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000155123
AA Change: V81A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000120759
Gene: ENSMUSG00000038611
AA Change: V81A

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 noncoding transcript
Transcript: ENSMUST00000211144
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.0%
Validation Efficiency 97% (66/68)
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd12 T A 2: 150,690,341 (GRCm39) Q118L probably benign Het
Acss1 A T 2: 150,480,357 (GRCm39) V238D possibly damaging Het
Adgrv1 T C 13: 81,635,972 (GRCm39) I3512M probably benign Het
Arhgap32 A G 9: 32,171,096 (GRCm39) Q1292R probably damaging Het
Bpnt2 A G 4: 4,792,737 (GRCm39) F123L probably damaging Het
Caskin1 C T 17: 24,721,186 (GRCm39) R509C possibly damaging Het
Cd47 T C 16: 49,714,591 (GRCm39) V147A possibly damaging Het
Cdc20b T A 13: 113,215,258 (GRCm39) Y275* probably null Het
Chd4 A G 6: 125,100,547 (GRCm39) D1745G possibly damaging Het
Crmp1 T A 5: 37,430,783 (GRCm39) S250T probably damaging Het
Crybg2 A G 4: 133,802,214 (GRCm39) K1125E probably benign Het
Crybg2 C A 4: 133,802,136 (GRCm39) P1099T possibly damaging Het
Csf1r T A 18: 61,243,473 (GRCm39) I163N possibly damaging Het
Dicer1 T C 12: 104,675,064 (GRCm39) T733A probably damaging Het
Edar A G 10: 58,441,875 (GRCm39) V339A possibly damaging Het
Efcab3 A G 11: 104,611,492 (GRCm39) R445G probably benign Het
Efcab6 A G 15: 83,755,194 (GRCm39) I1374T possibly damaging Het
Erbb2 G A 11: 98,324,283 (GRCm39) R757K probably damaging Het
Fam98a A G 17: 75,854,710 (GRCm39) V33A probably benign Het
Farp2 T C 1: 93,531,191 (GRCm39) probably null Het
Fcmr A G 1: 130,805,988 (GRCm39) T315A probably benign Het
Gdf9 G A 11: 53,324,576 (GRCm39) R115Q probably damaging Het
Gm22697+Rbm27 AGGTCCAGGCCCAGGCCCTGGTCCTGGCCCTGGCCCTGGTCCCGGCCCAGGCCC AGGTCCCGGCCCAGGCCC 18: 42,434,948 (GRCm39) probably benign Het
H2-M10.1 A G 17: 36,636,648 (GRCm39) V52A probably damaging Het
Hspg2 T A 4: 137,260,748 (GRCm39) C1582* probably null Het
Icam2 C T 11: 106,268,782 (GRCm39) V229M probably damaging Het
Itga7 C T 10: 128,784,693 (GRCm39) P735L probably benign Het
Kbtbd3 C A 9: 4,330,589 (GRCm39) P321Q possibly damaging Het
Kcnma1 T A 14: 23,364,262 (GRCm39) T997S probably damaging Het
Kifc5b T C 17: 27,144,504 (GRCm39) F541S probably damaging Het
Klhdc9 C A 1: 171,188,016 (GRCm39) V72L probably benign Het
Krt84 G A 15: 101,434,398 (GRCm39) S523F possibly damaging Het
Lrrtm4 A G 6: 79,999,511 (GRCm39) T308A probably benign Het
Map1b T C 13: 99,569,091 (GRCm39) E1210G unknown Het
Mocs3 A G 2: 168,073,489 (GRCm39) Y312C probably damaging Het
Mrps7 G T 11: 115,495,581 (GRCm39) E40* probably null Het
Msantd5f1 A T 4: 73,605,621 (GRCm39) N344I possibly damaging Het
Msln T C 17: 25,972,382 (GRCm39) H50R probably benign Het
Myb A G 10: 21,002,097 (GRCm39) F748S probably damaging Het
Myo10 C A 15: 25,742,455 (GRCm39) H590N probably damaging Het
Naip5 T C 13: 100,358,419 (GRCm39) E939G probably benign Het
Nbeal1 T A 1: 60,239,278 (GRCm39) V107E probably damaging Het
Nrcam A T 12: 44,623,462 (GRCm39) N1011I probably damaging Het
Or14c44 A G 7: 86,057,078 (GRCm39) probably benign Het
Or1ak2 T C 2: 36,827,335 (GRCm39) L68P probably damaging Het
Or4c118 A C 2: 88,975,346 (GRCm39) V7G probably damaging Het
Pcgf6 A T 19: 47,037,441 (GRCm39) C153S probably damaging Het
Ppp4r4 A G 12: 103,550,331 (GRCm39) N36D probably benign Het
Prkch A G 12: 73,805,775 (GRCm39) T517A possibly damaging Het
Rasal1 A T 5: 120,790,910 (GRCm39) K33* probably null Het
Rp1l1 G A 14: 64,268,442 (GRCm39) E1343K probably damaging Het
Serpinb6e T C 13: 34,020,406 (GRCm39) D234G probably benign Het
Setd2 A G 9: 110,378,932 (GRCm39) S632G probably benign Het
Smyd3 T G 1: 178,871,441 (GRCm39) I313L probably benign Het
Tdrd9 C A 12: 111,991,140 (GRCm39) D543E probably damaging Het
Tet1 A G 10: 62,715,453 (GRCm39) L114P probably damaging Het
Tmprss11c G A 5: 86,387,283 (GRCm39) P212S probably damaging Het
Tmx2 A T 2: 84,506,461 (GRCm39) M77K probably damaging Het
Traf3 T G 12: 111,228,470 (GRCm39) D560E probably damaging Het
Trappc12 C T 12: 28,741,776 (GRCm39) M711I probably benign Het
Trim2 A G 3: 84,074,957 (GRCm39) probably null Het
Vmn2r18 A G 5: 151,485,464 (GRCm39) S677P probably damaging Het
Wdr7 T A 18: 63,853,847 (GRCm39) L60* probably null Het
Wdr93 T C 7: 79,399,830 (GRCm39) F140L probably benign Het
Zfp638 A G 6: 83,931,719 (GRCm39) T802A 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
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
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'- CTGAAGCCTGTGATAGCTCACACC -3'
(R):5'- TGGACCATTCGATGATGCAATCCAG -3'

Sequencing Primer
(F):5'- GGAGCTAGTGTAATCACTTAGCC -3'
(R):5'- TCCAGGCAGAAATAATGGGCAC -3'
Posted On 2014-05-09