Incidental Mutation 'R4081:Phrf1'
ID 316887
Institutional Source Beutler Lab
Gene Symbol Phrf1
Ensembl Gene ENSMUSG00000038611
Gene Name PHD and ring finger domains 1
Synonyms
MMRRC Submission 040977-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4081 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 140808697-140842663 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 140838970 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: S881P
SMART Domains Protein: ENSMUSP00000101648
Gene: ENSMUSG00000038611
AA Change: S881P

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: S722P
SMART Domains Protein: ENSMUSP00000113195
Gene: ENSMUSG00000038611
AA Change: S722P

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 noncoding transcript
Transcript: ENSMUST00000155744
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131399
Predicted Effect probably benign
Transcript: ENSMUST00000209899
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210506
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144250
Predicted Effect probably benign
Transcript: ENSMUST00000132540
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127223
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
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
Meta Mutation Damage Score 0.0610 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 96.0%
Validation Efficiency 98% (58/59)
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass A T 6: 23,109,497 (GRCm39) D324E possibly damaging Het
Adad1 A G 3: 37,118,512 (GRCm39) 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
Ccnf T C 17: 24,442,872 (GRCm39) *778W probably null Het
Cd53 T C 3: 106,669,461 (GRCm39) H179R probably benign Het
Cit G T 5: 116,086,109 (GRCm39) R891L probably damaging Het
Clec4b1 T C 6: 123,046,733 (GRCm39) probably null Het
Cntrl C A 2: 35,051,938 (GRCm39) probably benign Het
Cntrl A G 2: 35,065,137 (GRCm39) D2148G probably damaging Het
Cpa5 T C 6: 30,631,228 (GRCm39) S381P probably benign Het
Crybg1 A T 10: 43,851,035 (GRCm39) V1612D probably damaging Het
Cwc25 G T 11: 97,644,744 (GRCm39) Q205K probably benign Het
Cyp2d11 A T 15: 82,276,002 (GRCm39) I193N possibly damaging Het
Gdi2 T A 13: 3,598,866 (GRCm39) C17S probably benign Het
Gm5436 T A 12: 84,305,489 (GRCm39) noncoding transcript Het
Ifit1bl1 T C 19: 34,572,040 (GRCm39) Y139C possibly damaging Het
Insr A T 8: 3,261,391 (GRCm39) M321K probably benign Het
Ippk T A 13: 49,599,852 (GRCm39) L237Q probably damaging Het
Itpr1 T A 6: 108,368,796 (GRCm39) I149N probably damaging 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
Lrp2 T A 2: 69,343,617 (GRCm39) H914L probably damaging Het
Myd88 G T 9: 119,169,053 (GRCm39) probably benign Het
Myh2 T C 11: 67,081,256 (GRCm39) S1291P probably benign Het
Mylk3 G A 8: 86,055,311 (GRCm39) L549F probably damaging Het
Otog T C 7: 45,937,723 (GRCm39) S1811P possibly damaging 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
Ptprh T A 7: 4,583,987 (GRCm39) T202S probably damaging Het
Ptprr A T 10: 116,072,615 (GRCm39) K329N probably benign Het
Rgl3 T A 9: 21,898,971 (GRCm39) H156L possibly damaging Het
Sema6b A G 17: 56,435,307 (GRCm39) V312A probably damaging Het
Sez6l T C 5: 112,609,032 (GRCm39) I606V probably benign Het
Slco1a1 T C 6: 141,881,688 (GRCm39) E148G probably damaging Het
Snph T C 2: 151,435,722 (GRCm39) D402G probably damaging Het
Sohlh1 A G 2: 25,735,734 (GRCm39) V135A probably benign Het
Sox14 T C 9: 99,757,277 (GRCm39) E154G possibly damaging Het
Spta1 A G 1: 174,041,632 (GRCm39) D1334G probably benign Het
Stard13 C A 5: 151,016,294 (GRCm39) probably null Het
Szt2 A G 4: 118,230,764 (GRCm39) probably benign Het
Tab2 G A 10: 7,795,595 (GRCm39) P296S probably damaging Het
Tbx15 A G 3: 99,220,370 (GRCm39) D48G possibly damaging Het
Tex10 T C 4: 48,468,873 (GRCm39) S101G probably benign Het
Tex11 C A X: 99,977,021 (GRCm39) A487S possibly damaging Het
Tulp4 C T 17: 6,282,055 (GRCm39) H695Y probably damaging Het
Vmn1r66 A G 7: 10,008,733 (GRCm39) I100T probably damaging Het
Vmn2r106 A T 17: 20,487,818 (GRCm39) Y860* probably null Het
Vwa3b C T 1: 37,074,905 (GRCm39) T24I probably damaging Het
Zfp541 G A 7: 15,806,060 (GRCm39) S65N probably benign Het
Zfp992 C T 4: 146,551,976 (GRCm39) H566Y probably damaging 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
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'- GATTCTGTAACACGTTCCGGC -3'
(R):5'- ATCATCCCAAGGGTCTGGTG -3'

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