Mutagenetix > Incidental Mutation

Incidental Mutation 'R4023:Rif1'

313332

Institutional Source

Beutler Lab

Gene Symbol

Rif1

Ensembl Gene

ENSMUSG00000036202

Gene Name

replication timing regulatory factor 1

Synonyms

D2Ertd145e, 6530403D07Rik, 5730435J01Rik

MMRRC Submission

040957-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4023 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

51962844-52012395 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 52011099 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 2389 (Y2389N)

Ref Sequence

ENSEMBL: ENSMUSP00000108313 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069794] [ENSMUST00000112693]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000069794
AA Change: Y2389N

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000064155
Gene: ENSMUSG00000036202
AA Change: Y2389N

Domain	Start	End	E-Value	Type
Pfam:Rif1_N	22	368	3.3e-78	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

Predicted Effect

probably benign
Transcript: ENSMUST00000112693
AA Change: Y2389N

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000108313
Gene: ENSMUSG00000036202
AA Change: Y2389N

Domain	Start	End	E-Value	Type
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

Predicted Effect

probably benign
Transcript: ENSMUST00000125322

Predicted Effect

probably benign
Transcript: ENSMUST00000125376

Predicted Effect

unknown
Transcript: ENSMUST00000152178
AA Change: Y497N

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 93.2%

Validation Efficiency

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110038F14Rik	CGGG	CGGGGGG	15: 76,833,863 (GRCm39)		probably benign	Het
Acad8	T	C	9: 26,890,481 (GRCm39)	I276V	probably benign	Het
Adgrg7	A	T	16: 56,550,661 (GRCm39)	Y684N	probably damaging	Het
Akap9	C	T	5: 4,042,077 (GRCm39)	T1370I	possibly damaging	Het
Akna	C	G	4: 63,292,627 (GRCm39)	G1094A	probably benign	Het
Catsperb	C	A	12: 101,568,942 (GRCm39)	Y871*	probably null	Het
Clcn4	T	G	7: 7,293,427 (GRCm39)	Y443S	probably damaging	Het
Clcn6	T	A	4: 148,098,740 (GRCm39)	T463S	possibly damaging	Het
Colec10	A	G	15: 54,325,947 (GRCm39)	D259G	probably damaging	Het
Ctnna2	A	T	6: 77,613,827 (GRCm39)	D254E	possibly damaging	Het
Depdc1a	G	A	3: 159,221,786 (GRCm39)		probably null	Het
Dlec1	T	C	9: 118,966,408 (GRCm39)	Y1126H	probably damaging	Het
Fezf2	A	T	14: 12,343,986 (GRCm38)	C302S	probably damaging	Het
Flnc	T	C	6: 29,451,634 (GRCm39)	I1591T	possibly damaging	Het
Kidins220	A	G	12: 25,107,143 (GRCm39)		probably null	Het
Mctp2	C	A	7: 71,739,987 (GRCm39)	C801F	possibly damaging	Het
Myo1e	A	G	9: 70,232,157 (GRCm39)	I229V	probably benign	Het
Or5t17	A	T	2: 86,833,266 (GRCm39)	K318*	probably null	Het
Or8c17	G	A	9: 38,180,757 (GRCm39)	C308Y	possibly damaging	Het
Ppp3r1	T	C	11: 17,144,786 (GRCm39)	V133A	probably damaging	Het
Sidt1	A	G	16: 44,102,249 (GRCm39)	S304P	possibly damaging	Het
Siglecf	T	A	7: 43,004,995 (GRCm39)	S408R	possibly damaging	Het
Stat5a	T	A	11: 100,765,752 (GRCm39)	C279*	probably null	Het
Tas2r105	A	G	6: 131,663,789 (GRCm39)	V213A	probably benign	Het
Tasor2	T	C	13: 3,634,554 (GRCm39)	D751G	probably damaging	Het
Tektl1	T	C	10: 78,588,727 (GRCm39)	T28A	probably benign	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably damaging	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Usp46	A	G	5: 74,193,136 (GRCm39)	Y47H	probably damaging	Het
Vmn1r34	T	A	6: 66,614,688 (GRCm39)	M17L	probably benign	Het
Vmn2r120	T	A	17: 57,843,718 (GRCm39)	D42V	possibly damaging	Het
Wdr20	A	G	12: 110,759,950 (GRCm39)	T279A	probably benign	Het
Zfyve1	A	G	12: 83,641,296 (GRCm39)	V120A	probably benign	Het

Other mutations in Rif1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00465:Rif1	APN	2	52,011,019 (GRCm39)	missense	probably damaging	0.96
IGL00711:Rif1	APN	2	52,001,082 (GRCm39)	missense	probably benign	0.00
IGL00721:Rif1	APN	2	52,009,129 (GRCm39)	missense	probably damaging	1.00
IGL01085:Rif1	APN	2	51,975,152 (GRCm39)	missense	possibly damaging	0.71
IGL01093:Rif1	APN	2	51,985,960 (GRCm39)	missense	probably damaging	1.00
IGL01107:Rif1	APN	2	52,001,315 (GRCm39)	missense	probably benign	0.00
IGL01138:Rif1	APN	2	52,001,534 (GRCm39)	missense	probably damaging	1.00
IGL01844:Rif1	APN	2	52,002,555 (GRCm39)	missense	probably benign	0.07
IGL02441:Rif1	APN	2	51,995,527 (GRCm39)	missense	probably benign	0.00
IGL02448:Rif1	APN	2	52,006,708 (GRCm39)	missense	probably damaging	0.99
IGL02563:Rif1	APN	2	51,967,077 (GRCm39)	missense	probably damaging	1.00
IGL02704:Rif1	APN	2	51,983,588 (GRCm39)	missense	probably damaging	1.00
IGL02946:Rif1	APN	2	52,000,137 (GRCm39)	nonsense	probably null
IGL03060:Rif1	APN	2	52,002,149 (GRCm39)	missense	probably damaging	0.97
IGL03206:Rif1	APN	2	51,993,634 (GRCm39)	missense	probably damaging	1.00
IGL03263:Rif1	APN	2	51,980,273 (GRCm39)	missense	probably damaging	0.99
IGL03267:Rif1	APN	2	51,967,000 (GRCm39)	missense	possibly damaging	0.94
IGL03280:Rif1	APN	2	52,002,611 (GRCm39)	missense	probably benign	0.32
hifi	UTSW	2	52,000,336 (GRCm39)	unclassified	probably benign
nietzsche	UTSW	2	51,967,032 (GRCm39)	missense	probably benign	0.08
PIT4305001:Rif1	UTSW	2	52,001,970 (GRCm39)	missense
R0017:Rif1	UTSW	2	52,006,686 (GRCm39)	missense	probably benign	0.18
R0017:Rif1	UTSW	2	52,006,686 (GRCm39)	missense	probably benign	0.18
R0060:Rif1	UTSW	2	52,001,129 (GRCm39)	missense	probably damaging	1.00
R0060:Rif1	UTSW	2	52,001,129 (GRCm39)	missense	probably damaging	1.00
R0104:Rif1	UTSW	2	52,000,104 (GRCm39)	missense	possibly damaging	0.77
R0268:Rif1	UTSW	2	51,980,298 (GRCm39)	critical splice donor site	probably null
R0276:Rif1	UTSW	2	52,000,336 (GRCm39)	unclassified	probably benign
R0278:Rif1	UTSW	2	52,000,336 (GRCm39)	unclassified	probably benign
R0288:Rif1	UTSW	2	52,000,025 (GRCm39)	missense	probably damaging	1.00
R0314:Rif1	UTSW	2	52,000,336 (GRCm39)	unclassified	probably benign
R0345:Rif1	UTSW	2	52,000,336 (GRCm39)	unclassified	probably benign
R0346:Rif1	UTSW	2	52,000,336 (GRCm39)	unclassified	probably benign
R0383:Rif1	UTSW	2	51,975,153 (GRCm39)	missense	probably damaging	0.96
R0384:Rif1	UTSW	2	52,000,336 (GRCm39)	unclassified	probably benign
R0387:Rif1	UTSW	2	52,000,336 (GRCm39)	unclassified	probably benign
R0388:Rif1	UTSW	2	52,000,336 (GRCm39)	unclassified	probably benign
R0456:Rif1	UTSW	2	52,000,336 (GRCm39)	unclassified	probably benign
R0477:Rif1	UTSW	2	52,000,336 (GRCm39)	unclassified	probably benign
R0505:Rif1	UTSW	2	52,000,749 (GRCm39)	missense	probably damaging	0.99
R0510:Rif1	UTSW	2	52,000,336 (GRCm39)	unclassified	probably benign
R0511:Rif1	UTSW	2	52,000,336 (GRCm39)	unclassified	probably benign
R0512:Rif1	UTSW	2	52,000,336 (GRCm39)	unclassified	probably benign
R0633:Rif1	UTSW	2	52,002,575 (GRCm39)	missense	probably benign	0.00
R0637:Rif1	UTSW	2	52,000,336 (GRCm39)	unclassified	probably benign
R0638:Rif1	UTSW	2	52,001,600 (GRCm39)	missense	probably benign	0.12
R0666:Rif1	UTSW	2	52,000,336 (GRCm39)	unclassified	probably benign
R0675:Rif1	UTSW	2	52,000,336 (GRCm39)	unclassified	probably benign
R0707:Rif1	UTSW	2	52,000,336 (GRCm39)	unclassified	probably benign
R0726:Rif1	UTSW	2	52,000,365 (GRCm39)	missense	possibly damaging	0.52
R0743:Rif1	UTSW	2	52,000,336 (GRCm39)	unclassified	probably benign
R0744:Rif1	UTSW	2	52,000,336 (GRCm39)	unclassified	probably benign
R0938:Rif1	UTSW	2	52,000,336 (GRCm39)	unclassified	probably benign
R0939:Rif1	UTSW	2	52,000,336 (GRCm39)	unclassified	probably benign
R0940:Rif1	UTSW	2	52,000,336 (GRCm39)	unclassified	probably benign
R0941:Rif1	UTSW	2	52,000,336 (GRCm39)	unclassified	probably benign
R0942:Rif1	UTSW	2	52,000,336 (GRCm39)	unclassified	probably benign
R0943:Rif1	UTSW	2	52,000,336 (GRCm39)	unclassified	probably benign
R1006:Rif1	UTSW	2	51,975,041 (GRCm39)	missense	probably damaging	0.99
R1052:Rif1	UTSW	2	52,001,574 (GRCm39)	missense	probably benign	0.01
R1061:Rif1	UTSW	2	52,000,336 (GRCm39)	unclassified	probably benign
R1175:Rif1	UTSW	2	51,997,640 (GRCm39)	unclassified	probably benign
R1183:Rif1	UTSW	2	52,000,336 (GRCm39)	unclassified	probably benign
R1184:Rif1	UTSW	2	52,000,336 (GRCm39)	unclassified	probably benign
R1271:Rif1	UTSW	2	52,000,336 (GRCm39)	unclassified	probably benign
R1332:Rif1	UTSW	2	51,968,326 (GRCm39)	missense	probably benign	0.06
R1336:Rif1	UTSW	2	51,968,326 (GRCm39)	missense	probably benign	0.06
R1351:Rif1	UTSW	2	52,001,567 (GRCm39)	missense	possibly damaging	0.74
R1517:Rif1	UTSW	2	52,000,336 (GRCm39)	unclassified	probably benign
R1527:Rif1	UTSW	2	52,000,336 (GRCm39)	unclassified	probably benign
R1560:Rif1	UTSW	2	52,001,143 (GRCm39)	missense	probably damaging	1.00
R1563:Rif1	UTSW	2	51,963,235 (GRCm39)	missense	probably damaging	0.99
R1571:Rif1	UTSW	2	52,000,336 (GRCm39)	unclassified	probably benign
R1625:Rif1	UTSW	2	51,993,652 (GRCm39)	missense	probably benign	0.25
R1679:Rif1	UTSW	2	52,000,336 (GRCm39)	unclassified	probably benign
R1689:Rif1	UTSW	2	52,000,336 (GRCm39)	unclassified	probably benign
R1731:Rif1	UTSW	2	52,000,336 (GRCm39)	unclassified	probably benign
R1744:Rif1	UTSW	2	52,002,404 (GRCm39)	missense	possibly damaging	0.56
R1746:Rif1	UTSW	2	52,000,336 (GRCm39)	unclassified	probably benign
R1748:Rif1	UTSW	2	52,000,336 (GRCm39)	unclassified	probably benign
R1831:Rif1	UTSW	2	51,968,507 (GRCm39)	nonsense	probably null
R1902:Rif1	UTSW	2	52,006,685 (GRCm39)	missense	possibly damaging	0.93
R1964:Rif1	UTSW	2	51,988,421 (GRCm39)	missense	probably benign	0.01
R1978:Rif1	UTSW	2	52,000,336 (GRCm39)	unclassified	probably benign
R2000:Rif1	UTSW	2	51,971,310 (GRCm39)	missense	probably damaging	0.99
R2030:Rif1	UTSW	2	51,982,358 (GRCm39)	missense	probably damaging	1.00
R2056:Rif1	UTSW	2	51,983,588 (GRCm39)	missense	probably damaging	1.00
R2106:Rif1	UTSW	2	52,000,336 (GRCm39)	unclassified	probably benign
R2109:Rif1	UTSW	2	52,000,336 (GRCm39)	unclassified	probably benign
R2125:Rif1	UTSW	2	52,000,336 (GRCm39)	unclassified	probably benign
R2126:Rif1	UTSW	2	52,000,336 (GRCm39)	unclassified	probably benign
R2145:Rif1	UTSW	2	52,001,412 (GRCm39)	missense	possibly damaging	0.63
R2152:Rif1	UTSW	2	52,000,336 (GRCm39)	unclassified	probably benign
R2153:Rif1	UTSW	2	52,000,336 (GRCm39)	unclassified	probably benign
R2213:Rif1	UTSW	2	52,000,336 (GRCm39)	unclassified	probably benign
R2327:Rif1	UTSW	2	52,000,336 (GRCm39)	unclassified	probably benign
R2512:Rif1	UTSW	2	52,000,336 (GRCm39)	unclassified	probably benign
R2513:Rif1	UTSW	2	52,000,336 (GRCm39)	unclassified	probably benign
R2516:Rif1	UTSW	2	52,000,336 (GRCm39)	unclassified	probably benign
R2520:Rif1	UTSW	2	52,000,336 (GRCm39)	unclassified	probably benign
R2905:Rif1	UTSW	2	51,988,516 (GRCm39)	missense	probably damaging	0.99
R3005:Rif1	UTSW	2	51,972,776 (GRCm39)	missense	probably damaging	1.00
R3155:Rif1	UTSW	2	52,000,336 (GRCm39)	unclassified	probably benign
R3156:Rif1	UTSW	2	52,000,336 (GRCm39)	unclassified	probably benign
R3429:Rif1	UTSW	2	52,000,336 (GRCm39)	unclassified	probably benign
R3707:Rif1	UTSW	2	51,983,592 (GRCm39)	missense	probably damaging	1.00
R3907:Rif1	UTSW	2	52,002,557 (GRCm39)	missense	probably benign	0.03
R3978:Rif1	UTSW	2	52,006,759 (GRCm39)	critical splice donor site	probably null
R4052:Rif1	UTSW	2	51,988,483 (GRCm39)	nonsense	probably null
R4668:Rif1	UTSW	2	52,001,964 (GRCm39)	missense	probably benign	0.01
R4674:Rif1	UTSW	2	51,996,954 (GRCm39)	missense	probably null	1.00
R4715:Rif1	UTSW	2	51,963,151 (GRCm39)	utr 5 prime	probably benign
R4766:Rif1	UTSW	2	51,988,946 (GRCm39)	missense	probably damaging	1.00
R4783:Rif1	UTSW	2	52,002,759 (GRCm39)	missense	probably damaging	0.96
R4785:Rif1	UTSW	2	52,002,759 (GRCm39)	missense	probably damaging	0.96
R4869:Rif1	UTSW	2	51,983,623 (GRCm39)	intron	probably benign
R4911:Rif1	UTSW	2	52,000,530 (GRCm39)	missense	probably damaging	0.98
R4951:Rif1	UTSW	2	51,974,998 (GRCm39)	splice site	probably null
R5044:Rif1	UTSW	2	51,999,940 (GRCm39)	missense	probably damaging	0.99
R5088:Rif1	UTSW	2	51,982,307 (GRCm39)	missense	possibly damaging	0.91
R5151:Rif1	UTSW	2	52,010,321 (GRCm39)	missense	probably damaging	1.00
R5187:Rif1	UTSW	2	51,971,301 (GRCm39)	missense	probably damaging	1.00
R5222:Rif1	UTSW	2	51,967,032 (GRCm39)	missense	probably benign	0.08
R5243:Rif1	UTSW	2	52,001,836 (GRCm39)	missense	possibly damaging	0.86
R5436:Rif1	UTSW	2	52,010,983 (GRCm39)	intron	probably benign
R5476:Rif1	UTSW	2	51,979,607 (GRCm39)	missense	probably damaging	1.00
R5496:Rif1	UTSW	2	51,988,928 (GRCm39)	missense	probably damaging	1.00
R5641:Rif1	UTSW	2	52,011,170 (GRCm39)	missense	possibly damaging	0.80
R5883:Rif1	UTSW	2	51,995,651 (GRCm39)	critical splice donor site	probably null
R5987:Rif1	UTSW	2	51,985,856 (GRCm39)	missense	probably damaging	1.00
R5990:Rif1	UTSW	2	51,985,856 (GRCm39)	missense	probably damaging	1.00
R5992:Rif1	UTSW	2	51,985,856 (GRCm39)	missense	probably damaging	1.00
R6019:Rif1	UTSW	2	51,985,856 (GRCm39)	missense	probably damaging	1.00
R6020:Rif1	UTSW	2	51,985,856 (GRCm39)	missense	probably damaging	1.00
R6255:Rif1	UTSW	2	51,975,065 (GRCm39)	missense	probably damaging	1.00
R6342:Rif1	UTSW	2	52,009,168 (GRCm39)	missense	probably damaging	0.97
R6364:Rif1	UTSW	2	51,997,681 (GRCm39)	missense	probably damaging	0.97
R6747:Rif1	UTSW	2	51,968,275 (GRCm39)	splice site	probably null
R6928:Rif1	UTSW	2	51,985,973 (GRCm39)	missense	probably damaging	1.00
R6954:Rif1	UTSW	2	52,002,703 (GRCm39)	missense	probably benign	0.00
R7003:Rif1	UTSW	2	51,967,001 (GRCm39)	missense	probably benign	0.06
R7310:Rif1	UTSW	2	51,995,631 (GRCm39)	missense	probably benign	0.12
R7549:Rif1	UTSW	2	51,968,519 (GRCm39)	missense	possibly damaging	0.52
R7603:Rif1	UTSW	2	51,966,187 (GRCm39)	missense	probably damaging	1.00
R7673:Rif1	UTSW	2	51,978,666 (GRCm39)	missense	probably damaging	1.00
R7741:Rif1	UTSW	2	51,975,153 (GRCm39)	missense	probably damaging	0.96
R7777:Rif1	UTSW	2	52,006,368 (GRCm39)	missense	probably benign	0.00
R7910:Rif1	UTSW	2	51,968,399 (GRCm39)	nonsense	probably null
R7962:Rif1	UTSW	2	51,964,288 (GRCm39)	missense	probably damaging	1.00
R8264:Rif1	UTSW	2	51,980,290 (GRCm39)	missense	noncoding transcript
R8390:Rif1	UTSW	2	52,000,935 (GRCm39)	missense	probably damaging	1.00
R8479:Rif1	UTSW	2	52,002,563 (GRCm39)	missense	possibly damaging	0.52
R8490:Rif1	UTSW	2	52,001,011 (GRCm39)	missense	probably damaging	0.96
R8762:Rif1	UTSW	2	52,001,742 (GRCm39)	missense
R8785:Rif1	UTSW	2	52,000,493 (GRCm39)	missense	probably benign	0.06
R8890:Rif1	UTSW	2	51,988,875 (GRCm39)	missense	probably damaging	0.99
R9081:Rif1	UTSW	2	52,000,989 (GRCm39)	missense	probably damaging	0.99
R9225:Rif1	UTSW	2	52,001,862 (GRCm39)	missense	probably benign	0.22
R9284:Rif1	UTSW	2	51,998,564 (GRCm39)	missense	probably benign	0.00
R9300:Rif1	UTSW	2	52,001,151 (GRCm39)	missense	probably damaging	1.00
R9366:Rif1	UTSW	2	52,010,356 (GRCm39)	missense
R9477:Rif1	UTSW	2	52,001,342 (GRCm39)	missense	probably benign	0.02
R9522:Rif1	UTSW	2	51,971,311 (GRCm39)	missense	probably damaging	1.00
R9573:Rif1	UTSW	2	52,000,466 (GRCm39)	missense	probably benign	0.29
R9630:Rif1	UTSW	2	51,979,607 (GRCm39)	missense	probably damaging	1.00
X0064:Rif1	UTSW	2	51,984,645 (GRCm39)	missense	probably damaging	0.96
X0064:Rif1	UTSW	2	51,964,327 (GRCm39)	missense	probably benign	0.00
Z1177:Rif1	UTSW	2	51,978,660 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTTATTTCCTCTCAGTATGATTGG -3'
(R):5'- CAAAGTGTCCTCTTTAAATGGTGTG -3'

Sequencing Primer
(F):5'- CCTCTCAGTATGATTGGAGATACAG -3'
(R):5'- TGGTGATCTCCAACGTG -3'

Posted On

2015-04-30