Mutagenetix > Incidental Mutation

Incidental Mutation 'R8961:Rtf1'

682323

Institutional Source

Beutler Lab

Gene Symbol

Rtf1

Ensembl Gene

ENSMUSG00000027304

Gene Name

RTF1, Paf1/RNA polymerase II complex component

Synonyms

Gtl7, 2900005O08Rik, 6530416A09Rik

MMRRC Submission

068795-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8961 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

119505549-119565888 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 119557377 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 465 (F465I)

Ref Sequence

ENSEMBL: ENSMUSP00000028767 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028767]

AlphaFold

A2AQ19

Predicted Effect

probably benign
Transcript: ENSMUST00000028767
AA Change: F465I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000028767
Gene: ENSMUSG00000027304
AA Change: F465I

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
low complexity region	97	108	N/A	INTRINSIC
low complexity region	115	128	N/A	INTRINSIC
low complexity region	138	182	N/A	INTRINSIC
coiled coil region	228	309	N/A	INTRINSIC
low complexity region	318	350	N/A	INTRINSIC
Plus3	358	466	2.23e-56	SMART
coiled coil region	529	565	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

100% (50/50)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus may represent a gene involved in regulation of transcription elongation and chromatin remodeling, based on studies of similar proteins in other organisms. The encoded protein may bind single-stranded DNA. [provided by RefSeq, Sep 2010]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700064H15Rik	T	A	3: 19,664,633 (GRCm39)		probably benign	Het
Angptl6	T	C	9: 20,789,467 (GRCm39)	T142A	probably benign	Het
Atp6v1b2	A	G	8: 69,555,414 (GRCm39)	I202V	probably benign	Het
B3gat2	A	T	1: 23,801,900 (GRCm39)	D62V	probably benign	Het
Ccdc180	A	G	4: 45,929,573 (GRCm39)	D1211G	possibly damaging	Het
Ccp110	T	G	7: 118,322,110 (GRCm39)	D588E	probably damaging	Het
Cdh6	A	T	15: 13,041,447 (GRCm39)	I539K	probably benign	Het
Chd5	A	G	4: 152,467,489 (GRCm39)		probably benign	Het
Crim1	T	C	17: 78,680,117 (GRCm39)	S953P	possibly damaging	Het
Dennd2a	T	C	6: 39,462,555 (GRCm39)	K652E	probably damaging	Het
Dnajb3	T	A	1: 88,132,998 (GRCm39)	R135*	probably null	Het
Dnajc25	T	A	4: 59,020,438 (GRCm39)	M168K		Het
Elfn2	T	C	15: 78,557,378 (GRCm39)	S390G	probably benign	Het
Ephb6	C	T	6: 41,590,293 (GRCm39)	A15V	probably benign	Het
Fam135b	T	A	15: 71,404,812 (GRCm39)	N78I	probably damaging	Het
Flot2	G	A	11: 77,945,632 (GRCm39)		probably benign	Het
Gm10277	T	A	11: 77,677,826 (GRCm39)		probably benign	Het
Itpr1	T	C	6: 108,470,666 (GRCm39)	V2198A	possibly damaging	Het
Kndc1	T	A	7: 139,503,976 (GRCm39)	F1093L	possibly damaging	Het
Kndc1	C	T	7: 139,507,708 (GRCm39)	S1222F	possibly damaging	Het
Kpna4	T	C	3: 68,986,821 (GRCm39)	T523A	probably benign	Het
Krt39	T	C	11: 99,409,931 (GRCm39)	D202G	possibly damaging	Het
Loxhd1	C	T	18: 77,472,765 (GRCm39)	T985M	probably damaging	Het
Mdc1	T	C	17: 36,159,407 (GRCm39)	S596P	probably benign	Het
Misp	A	G	10: 79,663,823 (GRCm39)	Q599R	probably benign	Het
Mogs	C	A	6: 83,092,720 (GRCm39)	F53L	probably benign	Het
Mthfr	A	T	4: 148,128,099 (GRCm39)	N167Y	probably damaging	Het
Nod1	C	T	6: 54,926,461 (GRCm39)	E53K	probably damaging	Het
Or1j11	A	T	2: 36,312,177 (GRCm39)	I256F	probably damaging	Het
Or52l1	A	G	7: 104,830,376 (GRCm39)	I48T	possibly damaging	Het
Or5m5	T	A	2: 85,814,610 (GRCm39)	M142K	probably damaging	Het
Or6c5c	C	T	10: 129,299,225 (GRCm39)	P227S	probably damaging	Het
Or6z5	T	C	7: 6,477,763 (GRCm39)	V218A	probably benign	Het
Pkd1l2	A	G	8: 117,726,717 (GRCm39)	I2263T	possibly damaging	Het
Rbbp8	T	C	18: 11,865,262 (GRCm39)	M717T	probably benign	Het
Rest	A	G	5: 77,416,482 (GRCm39)	H232R	probably damaging	Het
Rps6ka1	A	G	4: 133,587,362 (GRCm39)		probably null	Het
Skil	T	C	3: 31,167,729 (GRCm39)	S454P	probably benign	Het
Snx13	T	C	12: 35,155,285 (GRCm39)	Y450H	probably damaging	Het
Spef2	T	A	15: 9,647,414 (GRCm39)	E971V	possibly damaging	Het
Sqle	T	A	15: 59,187,695 (GRCm39)	M1K	probably null	Het
Srcap	C	G	7: 127,141,101 (GRCm39)	P1566R	probably damaging	Het
Stxbp5l	ATTTT	ATTTTT	16: 37,036,414 (GRCm39)		probably null	Het
Tmc3	T	C	7: 83,256,970 (GRCm39)	Y408H	probably damaging	Het
Uba2	A	T	7: 33,855,642 (GRCm39)		probably benign	Het
Unc13c	G	T	9: 73,839,524 (GRCm39)	N442K	probably benign	Het
Vmn1r21	T	A	6: 57,820,829 (GRCm39)	H205L	probably damaging	Het
Vwa7	C	T	17: 35,238,086 (GRCm39)	T229I	probably damaging	Het
Washc4	A	G	10: 83,409,657 (GRCm39)	D602G	probably damaging	Het
Zcchc9	C	A	13: 91,953,955 (GRCm39)		probably benign	Het

Other mutations in Rtf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01548:Rtf1	APN	2	119,542,589 (GRCm39)	missense	probably benign	0.37
IGL02010:Rtf1	APN	2	119,531,747 (GRCm39)	critical splice donor site	probably null
IGL02336:Rtf1	APN	2	119,559,226 (GRCm39)	splice site	probably benign
IGL03004:Rtf1	APN	2	119,531,754 (GRCm39)	splice site	probably benign
R0127:Rtf1	UTSW	2	119,557,224 (GRCm39)	missense	probably damaging	1.00
R0244:Rtf1	UTSW	2	119,563,358 (GRCm39)	missense	probably damaging	1.00
R1014:Rtf1	UTSW	2	119,550,727 (GRCm39)	missense	possibly damaging	0.83
R1387:Rtf1	UTSW	2	119,536,126 (GRCm39)	critical splice donor site	probably null
R1760:Rtf1	UTSW	2	119,558,889 (GRCm39)	missense	probably benign	0.01
R2114:Rtf1	UTSW	2	119,535,999 (GRCm39)	missense	probably benign	0.02
R2115:Rtf1	UTSW	2	119,535,999 (GRCm39)	missense	probably benign	0.02
R2117:Rtf1	UTSW	2	119,535,999 (GRCm39)	missense	probably benign	0.02
R2342:Rtf1	UTSW	2	119,542,598 (GRCm39)	missense	probably benign
R4552:Rtf1	UTSW	2	119,561,210 (GRCm39)	missense	probably benign	0.00
R4801:Rtf1	UTSW	2	119,505,709 (GRCm39)	missense	possibly damaging	0.94
R4802:Rtf1	UTSW	2	119,505,709 (GRCm39)	missense	possibly damaging	0.94
R4843:Rtf1	UTSW	2	119,536,017 (GRCm39)	missense	possibly damaging	0.68
R5539:Rtf1	UTSW	2	119,560,405 (GRCm39)	missense	possibly damaging	0.84
R6250:Rtf1	UTSW	2	119,505,658 (GRCm39)	missense	unknown
R6960:Rtf1	UTSW	2	119,541,559 (GRCm39)	missense	probably damaging	0.97
R7282:Rtf1	UTSW	2	119,505,580 (GRCm39)	missense	unknown
R8120:Rtf1	UTSW	2	119,531,602 (GRCm39)	missense	probably damaging	0.99
R8236:Rtf1	UTSW	2	119,531,695 (GRCm39)	missense	probably damaging	0.98
R9718:Rtf1	UTSW	2	119,535,986 (GRCm39)	missense	possibly damaging	0.66
X0026:Rtf1	UTSW	2	119,557,269 (GRCm39)	missense	probably benign	0.10

Predicted Primers

PCR Primer
(F):5'- GCACATTCTTGGAGATGTTGTC -3'
(R):5'- CAGACTGCAGAAAATGACAAATCTG -3'

Sequencing Primer
(F):5'- TTATGTAGGCATGGCAATGACC -3'
(R):5'- GACAAATCTGACCTTTTCCAAACTGG -3'

Posted On

2021-08-31