Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02704:Rif1'

304282

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rif1

Ensembl Gene

ENSMUSG00000036202

Gene Name

replication timing regulatory factor 1

Synonyms

6530403D07Rik, 5730435J01Rik, D2Ertd145e

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02704

Quality Score

Status

Chromosome

Chromosomal Location

52072832-52122383 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 52093576 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 577 (M577K)

Ref Sequence

ENSEMBL: ENSMUSP00000108313 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000069794
AA Change: M577K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000064155
Gene: ENSMUSG00000036202
AA Change: M577K

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 damaging
Transcript: ENSMUST00000112693
AA Change: M577K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000108313
Gene: ENSMUSG00000036202
AA Change: M577K

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

noncoding transcript
Transcript: ENSMUST00000125116

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145130

Coding Region Coverage

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Accs	G	T	2: 93,842,926 (GRCm38)	P162Q	probably damaging	Het
Alb	A	G	5: 90,468,509 (GRCm38)	N291S	possibly damaging	Het
Ankar	T	C	1: 72,652,343 (GRCm38)	D935G	possibly damaging	Het
Atp13a5	A	T	16: 29,251,328 (GRCm38)	C935*	probably null	Het
Bivm	A	T	1: 44,126,446 (GRCm38)	T19S	probably benign	Het
Ddah2	C	A	17: 35,061,007 (GRCm38)	D158E	possibly damaging	Het
Dnah7b	C	T	1: 46,142,133 (GRCm38)	T1060I	probably benign	Het
Efhb	T	C	17: 53,426,269 (GRCm38)	T525A	probably damaging	Het
Exoc3	A	G	13: 74,174,144 (GRCm38)	M604T	probably benign	Het
Frmpd1	T	G	4: 45,285,082 (GRCm38)	I1301S	possibly damaging	Het
Gm5269	T	C	1: 45,890,075 (GRCm38)	T2A	probably benign	Het
Hif3a	T	A	7: 17,050,761 (GRCm38)		probably benign	Het
Hpgds	A	T	6: 65,123,637 (GRCm38)	L119*	probably null	Het
Iars	A	G	13: 49,721,100 (GRCm38)	D750G	probably damaging	Het
Ift43	T	A	12: 86,161,177 (GRCm38)	D106E	probably benign	Het
Iqub	T	A	6: 24,505,910 (GRCm38)		probably benign	Het
Lamb1	A	G	12: 31,318,467 (GRCm38)	K1199E	probably benign	Het
Mast3	T	A	8: 70,786,875 (GRCm38)	I395F	probably damaging	Het
Megf8	T	C	7: 25,359,782 (GRCm38)	S2236P	probably damaging	Het
Met	T	A	6: 17,491,257 (GRCm38)	V6E	possibly damaging	Het
Muc5ac	A	T	7: 141,795,263 (GRCm38)	T479S	possibly damaging	Het
Myo7b	T	C	18: 31,966,961 (GRCm38)	T1623A	probably benign	Het
Neto1	T	C	18: 86,473,823 (GRCm38)	L283P	probably damaging	Het
Olfr1104	T	C	2: 87,022,277 (GRCm38)	Q89R	probably benign	Het
Olfr1287	A	T	2: 111,449,147 (GRCm38)	E2D	probably benign	Het
Olfr720	T	C	14: 14,175,483 (GRCm38)	I200V	probably benign	Het
Olfr917	G	A	9: 38,665,767 (GRCm38)	P26S	possibly damaging	Het
Olfr954	T	C	9: 39,462,283 (GRCm38)	V284A	probably damaging	Het
Onecut1	A	G	9: 74,863,030 (GRCm38)	N245S	probably damaging	Het
Pkd1l1	A	G	11: 8,834,910 (GRCm38)	V1958A	probably benign	Het
Plb1	C	T	5: 32,353,667 (GRCm38)	A1292V	probably benign	Het
Plekha5	A	G	6: 140,543,866 (GRCm38)	E223G	probably damaging	Het
Pou1f1	A	T	16: 65,529,799 (GRCm38)	Q121L	possibly damaging	Het
Rbm25	G	A	12: 83,642,726 (GRCm38)	G47D	probably damaging	Het
Scn8a	A	G	15: 101,008,062 (GRCm38)	E712G	possibly damaging	Het
Snx24	A	G	18: 53,327,437 (GRCm38)	N29S	probably benign	Het
Tmem217	A	T	17: 29,526,558 (GRCm38)	V66D	probably damaging	Het
Ttn	T	G	2: 76,767,641 (GRCm38)	N19643H	probably damaging	Het
Uimc1	T	C	13: 55,030,959 (GRCm38)	T646A	probably benign	Het

Other mutations in Rif1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
R6928:Rif1	UTSW	2	52,095,961 (GRCm38)	missense	probably damaging	1.00
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	52,094,633 (GRCm38)	missense	probably damaging	0.96
X0064:Rif1	UTSW	2	52,074,315 (GRCm38)	missense	probably benign	0.00
Z1177:Rif1	UTSW	2	52,088,648 (GRCm38)	missense	probably damaging	1.00

Posted On

2015-04-16