Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02340:Rtf2'

289056

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rtf2

Ensembl Gene

ENSMUSG00000027502

Gene Name

replication termination factor 2

Synonyms

5730427M17Rik, 2410001C21Rik, Rtfdc1, 1700067C04Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.947) question?

Stock #

IGL02340

Quality Score

Status

Chromosome

Chromosomal Location

172282498-172311819 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 172310511 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000029007 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029005] [ENSMUST00000029007]

AlphaFold

Q99K95

Predicted Effect

probably benign
Transcript: ENSMUST00000029005

SMART Domains

Protein: ENSMUSP00000029005
Gene: ENSMUSG00000027502

Domain	Start	End	E-Value	Type
Pfam:Rtf2	1	290	1.5e-99	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000029007

SMART Domains

Protein: ENSMUSP00000029007
Gene: ENSMUSG00000027505

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:FAM209	21	168	9.1e-78	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000109132

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140048

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akt2	T	A	7: 27,328,824 (GRCm39)	I182N	probably damaging	Het
Alpk3	A	G	7: 80,728,255 (GRCm39)	T462A	probably benign	Het
Amz1	A	G	5: 140,738,014 (GRCm39)	R425G	probably damaging	Het
Aoc2	A	G	11: 101,217,201 (GRCm39)	E428G	probably damaging	Het
Car4	C	T	11: 84,856,593 (GRCm39)	P294S	probably damaging	Het
Chchd6	A	T	6: 89,396,762 (GRCm39)	H216Q	probably damaging	Het
Chl1	A	G	6: 103,675,086 (GRCm39)	Y591C	probably damaging	Het
Cln8	T	C	8: 14,945,178 (GRCm39)	L164S	probably damaging	Het
Dscaml1	T	C	9: 45,581,474 (GRCm39)	I431T	possibly damaging	Het
Fam234b	T	C	6: 135,208,659 (GRCm39)	L524P	probably damaging	Het
Fmo1	T	C	1: 162,660,559 (GRCm39)	N410S	probably benign	Het
Ftsj3	G	A	11: 106,143,972 (GRCm39)	R251*	probably null	Het
Greb1l	A	T	18: 10,515,200 (GRCm39)	D555V	probably damaging	Het
Hcar1	G	T	5: 124,017,135 (GRCm39)	H185Q	probably damaging	Het
Kcnj12	G	A	11: 60,960,319 (GRCm39)	V206I	probably benign	Het
Lamc3	G	A	2: 31,808,469 (GRCm39)	G742S	probably damaging	Het
Lipg	T	C	18: 75,093,946 (GRCm39)		probably null	Het
Ltbp2	A	G	12: 84,839,729 (GRCm39)		probably null	Het
Mcm3ap	T	G	10: 76,332,386 (GRCm39)	Y1234*	probably null	Het
Myh6	T	A	14: 55,194,612 (GRCm39)	D719V	possibly damaging	Het
Myo9b	A	G	8: 71,743,689 (GRCm39)	N250S	probably damaging	Het
Nherf1	A	G	11: 115,070,858 (GRCm39)	E270G	probably benign	Het
Notch2	G	A	3: 98,054,652 (GRCm39)	W2438*	probably null	Het
Nphp1	G	A	2: 127,621,987 (GRCm39)	Q47*	probably null	Het
Nptx2	T	C	5: 144,493,056 (GRCm39)	L381P	probably damaging	Het
Nrxn3	A	G	12: 90,171,402 (GRCm39)	N911S	possibly damaging	Het
Or10j2	A	T	1: 173,097,972 (GRCm39)	I77F	probably benign	Het
Or5d46	T	C	2: 88,169,906 (GRCm39)		probably benign	Het
P4ha1	T	A	10: 59,188,023 (GRCm39)	F260Y	probably benign	Het
Pitpnm2	T	C	5: 124,268,676 (GRCm39)	D504G	probably damaging	Het
Prss54	A	G	8: 96,292,237 (GRCm39)	V114A	probably benign	Het
Ptprc	G	A	1: 137,998,957 (GRCm39)	T1031M	probably damaging	Het
Ryr3	A	G	2: 112,777,349 (GRCm39)		probably benign	Het
Slc14a2	C	T	18: 78,206,341 (GRCm39)	E492K	probably damaging	Het
Stab1	G	T	14: 30,862,367 (GRCm39)	N2322K	probably damaging	Het
Thsd7b	A	G	1: 130,087,369 (GRCm39)	N1162S	probably benign	Het
Tmprss11b	T	C	5: 86,810,090 (GRCm39)	I297V	probably benign	Het
Tnn	T	C	1: 159,972,775 (GRCm39)	N276D	probably benign	Het
Trhde	A	T	10: 114,428,118 (GRCm39)		probably benign	Het
Vmn1r115	T	A	7: 20,578,453 (GRCm39)	H153L	possibly damaging	Het
Vmn1r203	T	A	13: 22,708,997 (GRCm39)	C259*	probably null	Het
Xpot	T	A	10: 121,451,109 (GRCm39)	E97V	probably damaging	Het
Zbtb2	T	C	10: 4,318,712 (GRCm39)	D438G	probably damaging	Het

Other mutations in Rtf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02131:Rtf2	APN	2	172,308,212 (GRCm39)	missense	unknown
IGL02268:Rtf2	APN	2	172,310,639 (GRCm39)	missense	probably damaging	1.00
R0040:Rtf2	UTSW	2	172,286,616 (GRCm39)	missense	probably damaging	1.00
R0621:Rtf2	UTSW	2	172,308,216 (GRCm39)	missense	possibly damaging	0.60
R1080:Rtf2	UTSW	2	172,310,666 (GRCm39)	missense	probably damaging	1.00
R1580:Rtf2	UTSW	2	172,287,285 (GRCm39)	missense	probably damaging	1.00
R2105:Rtf2	UTSW	2	172,287,285 (GRCm39)	missense	probably damaging	1.00
R5461:Rtf2	UTSW	2	172,287,252 (GRCm39)	missense	probably damaging	1.00
R7839:Rtf2	UTSW	2	172,308,253 (GRCm39)	critical splice donor site	probably null
R9337:Rtf2	UTSW	2	172,308,205 (GRCm39)	missense	probably damaging	1.00
R9451:Rtf2	UTSW	2	172,282,745 (GRCm39)	intron	probably benign

Posted On

2015-04-16