Mutagenetix > Incidental Mutation

Incidental Mutation 'R6250:Rtf1'

505893

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

044367-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6250 (G1)

Quality Score

146.008

Status

Validated

Chromosome

Chromosomal Location

119505549-119565888 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 119505658 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 37 (V37A)

Ref Sequence

ENSEMBL: ENSMUSP00000028767 (fasta)

Gene Model

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

AlphaFold

A2AQ19

Predicted Effect

unknown
Transcript: ENSMUST00000028767
AA Change: V37A

SMART Domains

Protein: ENSMUSP00000028767
Gene: ENSMUSG00000027304
AA Change: V37A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136321

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.5%

Validation Efficiency

98% (60/61)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd12	T	C	2: 150,681,667 (GRCm39)	Y241C	probably damaging	Het
Ak9	T	C	10: 41,265,030 (GRCm39)	V929A	possibly damaging	Het
Ap3s1	T	C	18: 46,887,514 (GRCm39)	F49S	probably damaging	Het
Atp9b	T	C	18: 80,799,736 (GRCm39)	H801R	probably benign	Het
B430218F22Rik	A	G	13: 118,523,944 (GRCm39)		probably benign	Het
Ccnd3	T	A	17: 47,908,487 (GRCm39)	L186*	probably null	Het
Cnbd1	T	A	4: 19,098,255 (GRCm39)	Q55L	probably benign	Het
Commd10	A	G	18: 47,096,755 (GRCm39)	E54G	probably damaging	Het
Cplx3	A	G	9: 57,522,907 (GRCm39)	V151A	probably benign	Het
D6Ertd527e	G	A	6: 87,088,194 (GRCm39)	G119D	unknown	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Disp2	A	T	2: 118,621,247 (GRCm39)	I660F	probably damaging	Het
Eef1a2	A	G	2: 180,792,853 (GRCm39)	F211L	possibly damaging	Het
Epb41	A	T	4: 131,717,184 (GRCm39)	F323L	probably damaging	Het
Eps8l3	A	T	3: 107,797,781 (GRCm39)	I403F	probably benign	Het
Ercc5	T	A	1: 44,203,209 (GRCm39)	V282D	probably damaging	Het
Faim	A	T	9: 98,874,176 (GRCm39)	M1L	probably benign	Het
Fbxo24	A	G	5: 137,619,543 (GRCm39)	F111L	probably damaging	Het
Fcgbpl1	G	A	7: 27,850,139 (GRCm39)	G1195D	probably damaging	Het
Glrx	A	T	13: 75,988,229 (GRCm39)	I48F	probably damaging	Het
Gucy2g	A	T	19: 55,205,856 (GRCm39)	L668Q	probably damaging	Het
Hectd4	A	G	5: 121,477,561 (GRCm39)	D2828G	possibly damaging	Het
Hivep2	T	C	10: 14,007,503 (GRCm39)	V1367A	probably benign	Het
Hrob	A	G	11: 102,145,888 (GRCm39)	T55A	probably benign	Het
Ipo13	A	G	4: 117,769,351 (GRCm39)	V147A	possibly damaging	Het
Jchain	T	C	5: 88,674,034 (GRCm39)	T37A	probably benign	Het
Kif1b	A	G	4: 149,298,100 (GRCm39)	V1034A	probably benign	Het
Krt25	T	A	11: 99,211,989 (GRCm39)	N216I	probably damaging	Het
Mfsd4b1	T	C	10: 39,879,106 (GRCm39)	S264G	possibly damaging	Het
Mxra8	G	T	4: 155,925,546 (GRCm39)	R82L	possibly damaging	Het
Nlrp1b	A	T	11: 71,072,625 (GRCm39)	I406N	probably benign	Het
Or13c7	T	C	4: 43,854,363 (GRCm39)	L18P	possibly damaging	Het
Or2y11	A	T	11: 49,442,711 (GRCm39)	I46F	probably damaging	Het
Or5h23	G	A	16: 58,906,195 (GRCm39)	S217F	probably damaging	Het
Pak5	T	C	2: 136,016,189 (GRCm39)		probably benign	Het
Pcsk4	T	C	10: 80,161,426 (GRCm39)	R222G	probably benign	Het
Pik3cb	A	C	9: 98,976,651 (GRCm39)	F149V	probably benign	Het
Plscr4	G	A	9: 92,366,881 (GRCm39)	R165Q	possibly damaging	Het
Ppp2r2a	A	T	14: 67,276,403 (GRCm39)	V34E	probably damaging	Het
Prpf8	T	G	11: 75,384,334 (GRCm39)	S659R	possibly damaging	Het
Ptprd	A	G	4: 76,047,232 (GRCm39)	S342P	probably damaging	Het
Pum2	T	C	12: 8,794,755 (GRCm39)		probably null	Het
Ranbp3	T	G	17: 56,984,208 (GRCm39)		probably null	Het
Rassf7	A	G	7: 140,797,156 (GRCm39)	E123G	probably damaging	Het
Rcor1	G	T	12: 111,078,311 (GRCm39)	A469S	probably benign	Het
Rcor3	G	T	1: 191,785,196 (GRCm39)	P524Q	probably damaging	Het
Rnf44	A	T	13: 54,829,920 (GRCm39)		probably null	Het
Sdc4	A	T	2: 164,273,138 (GRCm39)	D57E	probably damaging	Het
Setbp1	T	C	18: 78,901,217 (GRCm39)	T817A	probably benign	Het
Setd1a	A	G	7: 127,390,471 (GRCm39)	E506G	unknown	Het
Slc30a8	G	A	15: 52,198,545 (GRCm39)	R330Q	probably benign	Het
Snx22	C	A	9: 65,976,923 (GRCm39)	E14*	probably null	Het
Spata31d1a	A	G	13: 59,849,615 (GRCm39)	S838P	possibly damaging	Het
Sprr4	G	T	3: 92,407,770 (GRCm39)	Q11K	unknown	Het
Trpm3	A	G	19: 22,887,418 (GRCm39)	N839S	probably benign	Het
Vps9d1	T	C	8: 123,974,947 (GRCm39)		probably null	Het
Vwa3b	T	C	1: 37,090,966 (GRCm39)		probably null	Het
Ythdf1	T	C	2: 180,552,893 (GRCm39)	T414A	probably damaging	Het
Zfp709	TCGACG	TCG	8: 72,644,552 (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
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
R8961:Rtf1	UTSW	2	119,557,377 (GRCm39)	missense	probably benign
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'- TAGATCAGGGAGCGTTGGTC -3'
(R):5'- GCTCCAAGGGCCTAAGATTCAG -3'

Sequencing Primer
(F):5'- GAGCGTTGGTCCGGAAC -3'
(R):5'- GCCTAAGATTCAGCGGGG -3'

Posted On

2018-02-28