Incidental Mutation 'R6928:Rif1'
ID 539823
Institutional Source Beutler Lab
Gene Symbol Rif1
Ensembl Gene ENSMUSG00000036202
Gene Name replication timing regulatory factor 1
Synonyms 6530403D07Rik, 5730435J01Rik, D2Ertd145e
MMRRC Submission 045045-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6928 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 52072832-52122383 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 52095961 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 653 (W653R)
Ref Sequence ENSEMBL: ENSMUSP00000108313 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112693]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000112693
AA Change: W653R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108313
Gene: ENSMUSG00000036202
AA Change: W653R

DomainStartEndE-ValueType
Pfam:Rif1_N 18 381 1.4e-85 PFAM
low complexity region 432 444 N/A INTRINSIC
low complexity region 586 598 N/A INTRINSIC
low complexity region 1018 1038 N/A INTRINSIC
low complexity region 1180 1205 N/A INTRINSIC
low complexity region 1310 1321 N/A INTRINSIC
low complexity region 1423 1446 N/A INTRINSIC
low complexity region 1576 1586 N/A INTRINSIC
low complexity region 1677 1690 N/A INTRINSIC
low complexity region 1702 1712 N/A INTRINSIC
low complexity region 2176 2195 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.1%
  • 20x: 97.5%
Validation Efficiency 98% (62/63)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that shares homology with the yeast teleomere binding protein, Rap1 interacting factor 1. This protein localizes to aberrant telomeres may be involved in DNA repair. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality. Mice homozygous for a gene trap allele exhibit embryonic and postnatal lethality, reduced fertility, and decreased cell proliferation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcyap1r1 A G 6: 55,479,272 D215G possibly damaging Het
Asb3 A T 11: 30,998,326 M40L probably damaging Het
Aspg G A 12: 112,126,689 V547M possibly damaging Het
Aspm T A 1: 139,480,206 L2277* probably null Het
Atp7b A G 8: 21,994,812 S1295P probably benign Het
Cdca2 A G 14: 67,705,744 S199P probably damaging Het
Cdh1 A G 8: 106,661,010 E514G possibly damaging Het
Cenpk G T 13: 104,228,992 probably benign Het
Col6a5 C A 9: 105,939,919 V398L unknown Het
Colec10 A T 15: 54,462,606 K277N probably damaging Het
Cryzl2 T G 1: 157,470,787 S249A probably benign Het
Cspg4 T A 9: 56,897,880 Y1992N possibly damaging Het
Drd3 G T 16: 43,821,320 R333L probably benign Het
Espl1 C T 15: 102,298,907 R269C probably benign Het
Esr2 C T 12: 76,165,478 C188Y probably damaging Het
Focad A G 4: 88,348,875 D1041G unknown Het
Frem3 T C 8: 80,611,282 F68S possibly damaging Het
Gapdh A G 6: 125,162,671 V212A probably damaging Het
Gm10471 A G 5: 26,085,588 probably null Het
Gm3854 T C 7: 6,354,267 Y360H probably damaging Het
Gm4778 T A 3: 94,266,548 C288S probably benign Het
Gm4858 G A 3: 93,073,960 C95Y probably damaging Het
Gzmb T C 14: 56,260,277 K169E probably benign Het
Hexdc T A 11: 121,212,054 F33I possibly damaging Het
Hsd3b6 T C 3: 98,810,953 I32V probably benign Het
Jcad T C 18: 4,673,372 V378A probably benign Het
Kcnmb2 T C 3: 32,199,041 S177P probably benign Het
Lrriq1 A T 10: 103,214,939 S651T possibly damaging Het
Map3k2 T C 18: 32,207,540 probably null Het
Mib1 T G 18: 10,802,282 S870A probably benign Het
Moap1 T A 12: 102,742,612 N226I probably damaging Het
Moxd1 T A 10: 24,300,288 N547K probably damaging Het
Mtmr9 A G 14: 63,543,593 V16A probably benign Het
Nme1 T C 11: 93,959,403 Y151C probably damaging Het
Nwd1 T C 8: 72,682,025 F879L probably benign Het
Nynrin T G 14: 55,863,878 S335A probably benign Het
Olfr1451 A G 19: 12,999,838 N284S probably damaging Het
Olfr1454 A T 19: 13,063,984 H191L probably benign Het
Olfr209 C A 16: 59,361,463 G252C probably damaging Het
Olfr655 A T 7: 104,596,589 Y197* probably null Het
Olfr930 T C 9: 38,930,566 Y132H probably damaging Het
Olfr935 T C 9: 38,994,632 M268V probably benign Het
Pcdhb21 A G 18: 37,514,421 E201G probably damaging Het
Plscr1 T C 9: 92,269,951 V301A possibly damaging Het
Psg28 A T 7: 18,423,078 S411T possibly damaging Het
Rnd3 T A 2: 51,132,506 I175L probably benign Het
Rtn4 A G 11: 29,706,791 E199G possibly damaging Het
Sgpp1 T C 12: 75,716,570 Y279C probably damaging Het
Slc2a13 A G 15: 91,276,179 I524T probably damaging Het
Spg11 C T 2: 122,069,904 V1556I probably benign Het
Srebf2 C T 15: 82,203,723 R215* probably null Het
Tmem19 T C 10: 115,347,274 N147S possibly damaging Het
Tpr T C 1: 150,408,785 S408P possibly damaging Het
Trav13d-4 C T 14: 53,073,161 T53I probably damaging Het
Trf T A 9: 103,222,108 R168W possibly damaging Het
Trim11 A G 11: 58,988,843 K273R probably damaging Het
Tsacc T A 3: 88,282,940 M68L probably benign Het
Ttn T A 2: 76,754,525 M22110L probably benign Het
Zfp160 G T 17: 21,041,462 G104V probably benign Het
Zranb1 G A 7: 132,966,594 R301H possibly damaging Het
Other mutations in Rif1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00465:Rif1 APN 2 52,121,007 (GRCm38) missense probably damaging 0.96
IGL00711:Rif1 APN 2 52,111,070 (GRCm38) missense probably benign 0.00
IGL00721:Rif1 APN 2 52,119,117 (GRCm38) missense probably damaging 1.00
IGL01085:Rif1 APN 2 52,085,140 (GRCm38) missense possibly damaging 0.71
IGL01093:Rif1 APN 2 52,095,948 (GRCm38) missense probably damaging 1.00
IGL01107:Rif1 APN 2 52,111,303 (GRCm38) missense probably benign 0.00
IGL01138:Rif1 APN 2 52,111,522 (GRCm38) missense probably damaging 1.00
IGL01844:Rif1 APN 2 52,112,543 (GRCm38) missense probably benign 0.07
IGL02441:Rif1 APN 2 52,105,515 (GRCm38) missense probably benign 0.00
IGL02448:Rif1 APN 2 52,116,696 (GRCm38) missense probably damaging 0.99
IGL02563:Rif1 APN 2 52,077,065 (GRCm38) missense probably damaging 1.00
IGL02704:Rif1 APN 2 52,093,576 (GRCm38) missense probably damaging 1.00
IGL02946:Rif1 APN 2 52,110,125 (GRCm38) nonsense probably null
IGL03060:Rif1 APN 2 52,112,137 (GRCm38) missense probably damaging 0.97
IGL03206:Rif1 APN 2 52,103,622 (GRCm38) missense probably damaging 1.00
IGL03263:Rif1 APN 2 52,090,261 (GRCm38) missense probably damaging 0.99
IGL03267:Rif1 APN 2 52,076,988 (GRCm38) missense possibly damaging 0.94
IGL03280:Rif1 APN 2 52,112,599 (GRCm38) missense probably benign 0.32
hifi UTSW 2 52,110,324 (GRCm38) unclassified probably benign
nietzsche UTSW 2 52,077,020 (GRCm38) missense probably benign 0.08
PIT4305001:Rif1 UTSW 2 52,111,958 (GRCm38) missense
R0017:Rif1 UTSW 2 52,116,674 (GRCm38) missense probably benign 0.18
R0017:Rif1 UTSW 2 52,116,674 (GRCm38) missense probably benign 0.18
R0060:Rif1 UTSW 2 52,111,117 (GRCm38) missense probably damaging 1.00
R0060:Rif1 UTSW 2 52,111,117 (GRCm38) missense probably damaging 1.00
R0104:Rif1 UTSW 2 52,110,092 (GRCm38) missense possibly damaging 0.77
R0268:Rif1 UTSW 2 52,090,286 (GRCm38) critical splice donor site probably null
R0276:Rif1 UTSW 2 52,110,324 (GRCm38) unclassified probably benign
R0278:Rif1 UTSW 2 52,110,324 (GRCm38) unclassified probably benign
R0288:Rif1 UTSW 2 52,110,013 (GRCm38) missense probably damaging 1.00
R0314:Rif1 UTSW 2 52,110,324 (GRCm38) unclassified probably benign
R0345:Rif1 UTSW 2 52,110,324 (GRCm38) unclassified probably benign
R0346:Rif1 UTSW 2 52,110,324 (GRCm38) unclassified probably benign
R0383:Rif1 UTSW 2 52,085,141 (GRCm38) missense probably damaging 0.96
R0384:Rif1 UTSW 2 52,110,324 (GRCm38) unclassified probably benign
R0387:Rif1 UTSW 2 52,110,324 (GRCm38) unclassified probably benign
R0388:Rif1 UTSW 2 52,110,324 (GRCm38) unclassified probably benign
R0456:Rif1 UTSW 2 52,110,324 (GRCm38) unclassified probably benign
R0477:Rif1 UTSW 2 52,110,324 (GRCm38) unclassified probably benign
R0505:Rif1 UTSW 2 52,110,737 (GRCm38) missense probably damaging 0.99
R0510:Rif1 UTSW 2 52,110,324 (GRCm38) unclassified probably benign
R0511:Rif1 UTSW 2 52,110,324 (GRCm38) unclassified probably benign
R0512:Rif1 UTSW 2 52,110,324 (GRCm38) unclassified probably benign
R0633:Rif1 UTSW 2 52,112,563 (GRCm38) missense probably benign 0.00
R0637:Rif1 UTSW 2 52,110,324 (GRCm38) unclassified probably benign
R0638:Rif1 UTSW 2 52,111,588 (GRCm38) missense probably benign 0.12
R0666:Rif1 UTSW 2 52,110,324 (GRCm38) unclassified probably benign
R0675:Rif1 UTSW 2 52,110,324 (GRCm38) unclassified probably benign
R0707:Rif1 UTSW 2 52,110,324 (GRCm38) unclassified probably benign
R0726:Rif1 UTSW 2 52,110,353 (GRCm38) missense possibly damaging 0.52
R0743:Rif1 UTSW 2 52,110,324 (GRCm38) unclassified probably benign
R0744:Rif1 UTSW 2 52,110,324 (GRCm38) unclassified probably benign
R0938:Rif1 UTSW 2 52,110,324 (GRCm38) unclassified probably benign
R0939:Rif1 UTSW 2 52,110,324 (GRCm38) unclassified probably benign
R0940:Rif1 UTSW 2 52,110,324 (GRCm38) unclassified probably benign
R0941:Rif1 UTSW 2 52,110,324 (GRCm38) unclassified probably benign
R0942:Rif1 UTSW 2 52,110,324 (GRCm38) unclassified probably benign
R0943:Rif1 UTSW 2 52,110,324 (GRCm38) unclassified probably benign
R1006:Rif1 UTSW 2 52,085,029 (GRCm38) missense probably damaging 0.99
R1052:Rif1 UTSW 2 52,111,562 (GRCm38) missense probably benign 0.01
R1061:Rif1 UTSW 2 52,110,324 (GRCm38) unclassified probably benign
R1175:Rif1 UTSW 2 52,107,628 (GRCm38) unclassified probably benign
R1183:Rif1 UTSW 2 52,110,324 (GRCm38) unclassified probably benign
R1184:Rif1 UTSW 2 52,110,324 (GRCm38) unclassified probably benign
R1271:Rif1 UTSW 2 52,110,324 (GRCm38) unclassified probably benign
R1332:Rif1 UTSW 2 52,078,314 (GRCm38) missense probably benign 0.06
R1336:Rif1 UTSW 2 52,078,314 (GRCm38) missense probably benign 0.06
R1351:Rif1 UTSW 2 52,111,555 (GRCm38) missense possibly damaging 0.74
R1517:Rif1 UTSW 2 52,110,324 (GRCm38) unclassified probably benign
R1527:Rif1 UTSW 2 52,110,324 (GRCm38) unclassified probably benign
R1560:Rif1 UTSW 2 52,111,131 (GRCm38) missense probably damaging 1.00
R1563:Rif1 UTSW 2 52,073,223 (GRCm38) missense probably damaging 0.99
R1571:Rif1 UTSW 2 52,110,324 (GRCm38) unclassified probably benign
R1625:Rif1 UTSW 2 52,103,640 (GRCm38) missense probably benign 0.25
R1679:Rif1 UTSW 2 52,110,324 (GRCm38) unclassified probably benign
R1689:Rif1 UTSW 2 52,110,324 (GRCm38) unclassified probably benign
R1731:Rif1 UTSW 2 52,110,324 (GRCm38) unclassified probably benign
R1744:Rif1 UTSW 2 52,112,392 (GRCm38) missense possibly damaging 0.56
R1746:Rif1 UTSW 2 52,110,324 (GRCm38) unclassified probably benign
R1748:Rif1 UTSW 2 52,110,324 (GRCm38) unclassified probably benign
R1831:Rif1 UTSW 2 52,078,495 (GRCm38) nonsense probably null
R1902:Rif1 UTSW 2 52,116,673 (GRCm38) missense possibly damaging 0.93
R1964:Rif1 UTSW 2 52,098,409 (GRCm38) missense probably benign 0.01
R1978:Rif1 UTSW 2 52,110,324 (GRCm38) unclassified probably benign
R2000:Rif1 UTSW 2 52,081,298 (GRCm38) missense probably damaging 0.99
R2030:Rif1 UTSW 2 52,092,346 (GRCm38) missense probably damaging 1.00
R2056:Rif1 UTSW 2 52,093,576 (GRCm38) missense probably damaging 1.00
R2106:Rif1 UTSW 2 52,110,324 (GRCm38) unclassified probably benign
R2109:Rif1 UTSW 2 52,110,324 (GRCm38) unclassified probably benign
R2125:Rif1 UTSW 2 52,110,324 (GRCm38) unclassified probably benign
R2126:Rif1 UTSW 2 52,110,324 (GRCm38) unclassified probably benign
R2145:Rif1 UTSW 2 52,111,400 (GRCm38) missense possibly damaging 0.63
R2152:Rif1 UTSW 2 52,110,324 (GRCm38) unclassified probably benign
R2153:Rif1 UTSW 2 52,110,324 (GRCm38) unclassified probably benign
R2213:Rif1 UTSW 2 52,110,324 (GRCm38) unclassified probably benign
R2327:Rif1 UTSW 2 52,110,324 (GRCm38) unclassified probably benign
R2512:Rif1 UTSW 2 52,110,324 (GRCm38) unclassified probably benign
R2513:Rif1 UTSW 2 52,110,324 (GRCm38) unclassified probably benign
R2516:Rif1 UTSW 2 52,110,324 (GRCm38) unclassified probably benign
R2520:Rif1 UTSW 2 52,110,324 (GRCm38) unclassified probably benign
R2905:Rif1 UTSW 2 52,098,504 (GRCm38) missense probably damaging 0.99
R3005:Rif1 UTSW 2 52,082,764 (GRCm38) missense probably damaging 1.00
R3155:Rif1 UTSW 2 52,110,324 (GRCm38) unclassified probably benign
R3156:Rif1 UTSW 2 52,110,324 (GRCm38) unclassified probably benign
R3429:Rif1 UTSW 2 52,110,324 (GRCm38) unclassified probably benign
R3707:Rif1 UTSW 2 52,093,580 (GRCm38) missense probably damaging 1.00
R3907:Rif1 UTSW 2 52,112,545 (GRCm38) missense probably benign 0.03
R3978:Rif1 UTSW 2 52,116,747 (GRCm38) critical splice donor site probably null
R4023:Rif1 UTSW 2 52,121,087 (GRCm38) missense probably benign 0.01
R4052:Rif1 UTSW 2 52,098,471 (GRCm38) nonsense probably null
R4668:Rif1 UTSW 2 52,111,952 (GRCm38) missense probably benign 0.01
R4674:Rif1 UTSW 2 52,106,942 (GRCm38) missense probably null 1.00
R4715:Rif1 UTSW 2 52,073,139 (GRCm38) utr 5 prime probably benign
R4766:Rif1 UTSW 2 52,098,934 (GRCm38) missense probably damaging 1.00
R4783:Rif1 UTSW 2 52,112,747 (GRCm38) missense probably damaging 0.96
R4785:Rif1 UTSW 2 52,112,747 (GRCm38) missense probably damaging 0.96
R4869:Rif1 UTSW 2 52,093,611 (GRCm38) intron probably benign
R4911:Rif1 UTSW 2 52,110,518 (GRCm38) missense probably damaging 0.98
R4951:Rif1 UTSW 2 52,084,986 (GRCm38) splice site probably null
R5044:Rif1 UTSW 2 52,109,928 (GRCm38) missense probably damaging 0.99
R5088:Rif1 UTSW 2 52,092,295 (GRCm38) missense possibly damaging 0.91
R5151:Rif1 UTSW 2 52,120,309 (GRCm38) missense probably damaging 1.00
R5187:Rif1 UTSW 2 52,081,289 (GRCm38) missense probably damaging 1.00
R5222:Rif1 UTSW 2 52,077,020 (GRCm38) missense probably benign 0.08
R5243:Rif1 UTSW 2 52,111,824 (GRCm38) missense possibly damaging 0.86
R5436:Rif1 UTSW 2 52,120,971 (GRCm38) intron probably benign
R5476:Rif1 UTSW 2 52,089,595 (GRCm38) missense probably damaging 1.00
R5496:Rif1 UTSW 2 52,098,916 (GRCm38) missense probably damaging 1.00
R5641:Rif1 UTSW 2 52,121,158 (GRCm38) missense possibly damaging 0.80
R5883:Rif1 UTSW 2 52,105,639 (GRCm38) critical splice donor site probably null
R5987:Rif1 UTSW 2 52,095,844 (GRCm38) missense probably damaging 1.00
R5990:Rif1 UTSW 2 52,095,844 (GRCm38) missense probably damaging 1.00
R5992:Rif1 UTSW 2 52,095,844 (GRCm38) missense probably damaging 1.00
R6019:Rif1 UTSW 2 52,095,844 (GRCm38) missense probably damaging 1.00
R6020:Rif1 UTSW 2 52,095,844 (GRCm38) missense probably damaging 1.00
R6255:Rif1 UTSW 2 52,085,053 (GRCm38) missense probably damaging 1.00
R6342:Rif1 UTSW 2 52,119,156 (GRCm38) missense probably damaging 0.97
R6364:Rif1 UTSW 2 52,107,669 (GRCm38) missense probably damaging 0.97
R6747:Rif1 UTSW 2 52,078,263 (GRCm38) splice site probably null
R6954:Rif1 UTSW 2 52,112,691 (GRCm38) missense probably benign 0.00
R7003:Rif1 UTSW 2 52,076,989 (GRCm38) missense probably benign 0.06
R7310:Rif1 UTSW 2 52,105,619 (GRCm38) missense probably benign 0.12
R7549:Rif1 UTSW 2 52,078,507 (GRCm38) missense possibly damaging 0.52
R7603:Rif1 UTSW 2 52,076,175 (GRCm38) missense probably damaging 1.00
R7673:Rif1 UTSW 2 52,088,654 (GRCm38) missense probably damaging 1.00
R7741:Rif1 UTSW 2 52,085,141 (GRCm38) missense probably damaging 0.96
R7777:Rif1 UTSW 2 52,116,356 (GRCm38) missense probably benign 0.00
R7910:Rif1 UTSW 2 52,078,387 (GRCm38) nonsense probably null
R7962:Rif1 UTSW 2 52,074,276 (GRCm38) missense probably damaging 1.00
R8264:Rif1 UTSW 2 52,090,278 (GRCm38) missense noncoding transcript
R8390:Rif1 UTSW 2 52,110,923 (GRCm38) missense probably damaging 1.00
R8479:Rif1 UTSW 2 52,112,551 (GRCm38) missense possibly damaging 0.52
R8490:Rif1 UTSW 2 52,110,999 (GRCm38) missense probably damaging 0.96
R8762:Rif1 UTSW 2 52,111,730 (GRCm38) missense
R8785:Rif1 UTSW 2 52,110,481 (GRCm38) missense probably benign 0.06
R8890:Rif1 UTSW 2 52,098,863 (GRCm38) missense probably damaging 0.99
R9081:Rif1 UTSW 2 52,110,977 (GRCm38) missense probably damaging 0.99
R9225:Rif1 UTSW 2 52,111,850 (GRCm38) missense probably benign 0.22
R9284:Rif1 UTSW 2 52,108,552 (GRCm38) missense probably benign 0.00
R9300:Rif1 UTSW 2 52,111,139 (GRCm38) missense probably damaging 1.00
R9366:Rif1 UTSW 2 52,120,344 (GRCm38) missense
R9477:Rif1 UTSW 2 52,111,330 (GRCm38) missense probably benign 0.02
R9522:Rif1 UTSW 2 52,081,299 (GRCm38) missense probably damaging 1.00
R9573:Rif1 UTSW 2 52,110,454 (GRCm38) missense probably benign 0.29
R9630:Rif1 UTSW 2 52,089,595 (GRCm38) missense probably damaging 1.00
X0064:Rif1 UTSW 2 52,074,315 (GRCm38) missense probably benign 0.00
X0064:Rif1 UTSW 2 52,094,633 (GRCm38) missense probably damaging 0.96
Z1177:Rif1 UTSW 2 52,088,648 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGGCCATTCTGATGCACAC -3'
(R):5'- GTAAGGAAGTGTTTGGAACTAGTTC -3'

Sequencing Primer
(F):5'- GGCCATTCTGATGCACACTGTTC -3'
(R):5'- ATGCTCTTTCCAAAATAGGGGG -3'
Posted On 2018-11-06