Mutagenetix > Incidental Mutation

Incidental Mutation 'R0017:Rif1'

8329

Institutional Source

Beutler Lab

Gene Symbol

Rif1

Ensembl Gene

ENSMUSG00000036202

Gene Name

replication timing regulatory factor 1

Synonyms

D2Ertd145e, 6530403D07Rik, 5730435J01Rik

MMRRC Submission

038312-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0017 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

51962844-52012395 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 52006686 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 2207 (T2207A)

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: T2207A

PolyPhen 2 Score 0.180 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000064155
Gene: ENSMUSG00000036202
AA Change: T2207A

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: T2207A

PolyPhen 2 Score 0.180 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000108313
Gene: ENSMUSG00000036202
AA Change: T2207A

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

unknown
Transcript: ENSMUST00000125376
AA Change: T565A

Predicted Effect

probably benign
Transcript: ENSMUST00000152178

Meta Mutation Damage Score

0.0679

Coding Region Coverage

1x: 79.1%
3x: 69.1%
10x: 41.8%
20x: 21.2%

Validation Efficiency

93% (76/82)

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	G	T	17: 9,226,938 (GRCm39)		probably benign	Het
Adgrv1	T	C	13: 81,727,065 (GRCm39)	N429S	probably benign	Het
Cdca8	T	C	4: 124,814,168 (GRCm39)	T208A	probably benign	Het
Dcdc5	G	A	2: 106,187,541 (GRCm39)		noncoding transcript	Het
Fig4	A	G	10: 41,149,003 (GRCm39)	Y150H	possibly damaging	Het
Fsip2	G	A	2: 82,822,416 (GRCm39)	V6050M	probably damaging	Het
Gpld1	A	G	13: 25,174,101 (GRCm39)	D842G	probably damaging	Het
Hmgcr	A	G	13: 96,788,597 (GRCm39)		probably benign	Het
Ifit2	A	T	19: 34,550,973 (GRCm39)	N171I	probably damaging	Het
Ipo11	T	A	13: 107,023,238 (GRCm39)	I416L	probably benign	Het
Kcnab1	G	A	3: 65,264,527 (GRCm39)	V259M	probably damaging	Het
Kif5c	A	G	2: 49,622,725 (GRCm39)	T526A	probably benign	Het
Nucb2	A	G	7: 116,132,386 (GRCm39)	D331G	probably benign	Het
Pfdn6	T	C	17: 34,158,538 (GRCm39)	R79G	probably damaging	Het
Pkd1	G	T	17: 24,797,513 (GRCm39)		probably null	Het
Ptpro	T	C	6: 137,393,825 (GRCm39)	V831A	probably benign	Het
Reg3b	T	A	6: 78,349,844 (GRCm39)	M128K	possibly damaging	Het
Rpa1	A	C	11: 75,205,687 (GRCm39)	N223K	probably null	Het
Rras2	T	C	7: 113,647,490 (GRCm39)		probably benign	Het
Scyl3	T	A	1: 163,767,538 (GRCm39)	I204N	possibly damaging	Het
Slc45a1	C	A	4: 150,714,023 (GRCm39)	D741Y	possibly damaging	Het
Slco1a5	A	T	6: 142,182,061 (GRCm39)		probably benign	Het
Smg5	G	T	3: 88,258,412 (GRCm39)	R461L	probably damaging	Het
Sync	G	A	4: 129,187,537 (GRCm39)	V190M	probably damaging	Het
Tshr	A	T	12: 91,504,660 (GRCm39)	I533F	possibly damaging	Het
Tsn	T	C	1: 118,228,589 (GRCm39)	D211G	probably damaging	Het
Ttn	G	A	2: 76,621,988 (GRCm39)	T15518I	probably benign	Het
Vapb	A	G	2: 173,613,397 (GRCm39)	T99A	probably benign	Het
Zfp280d	A	T	9: 72,246,292 (GRCm39)		probably null	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
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
R4023:Rif1	UTSW	2	52,011,099 (GRCm39)	missense	probably benign	0.01
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

Posted On

2012-11-21