Mutagenetix > Incidental Mutation

Incidental Mutation 'R9718:Rtf1'

730586

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9718 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

119675068-119735407 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 119705505 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 180 (D180G)

Ref Sequence

ENSEMBL: ENSMUSP00000028767 (fasta)

Gene Model

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

AlphaFold

A2AQ19

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028767
AA Change: D180G

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000028767
Gene: ENSMUSG00000027304
AA Change: D180G

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: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430097D07Rik	A	C	2: 32,575,235		probably benign	Het
Acvr1c	A	T	2: 58,315,995	D34E	probably benign	Het
Arhgef19	T	C	4: 141,249,292	V455A	probably damaging	Het
Cbfa2t3	T	A	8: 122,638,197	D282V	probably benign	Het
Ccl9	T	A	11: 83,575,412	N114I	probably benign	Het
Cdan1	G	T	2: 120,724,169	A875E	probably damaging	Het
Celf2	A	T	2: 6,721,538	F61L	probably damaging	Het
Chd9	T	C	8: 90,986,173	Y875H	unknown	Het
Ckap5	A	T	2: 91,548,832	K39M	probably benign	Het
Clcn3	T	C	8: 60,937,400	H169R	possibly damaging	Het
Csmd3	C	A	15: 47,696,687	V1416F		Het
Cyp4v3	A	T	8: 45,320,666	H155Q	probably damaging	Het
Dhx36	A	G	3: 62,472,045	F874S	possibly damaging	Het
Dnah14	A	T	1: 181,622,979	Q719L	probably benign	Het
Evi2	C	T	11: 79,515,757	V331M	probably damaging	Het
Fcgrt	T	G	7: 45,095,429	E205A	possibly damaging	Het
Fkrp	G	T	7: 16,811,187	T250N	probably benign	Het
Galc	G	A	12: 98,259,314	P6S		Het
Gm13420	A	T	2: 29,747,536	L42Q	probably damaging	Het
Gm5134	A	T	10: 75,992,497	M304L	possibly damaging	Het
Gm813	A	G	16: 58,614,611	L117S	probably benign	Het
Haao	T	C	17: 83,834,786	E208G	probably damaging	Het
Hook1	T	A	4: 96,016,441	H553Q	probably benign	Het
Igdcc3	A	G	9: 65,182,998		probably null	Het
Ighv10-3	C	T	12: 114,523,634	V56I	probably benign	Het
Ighv1-62-1	G	T	12: 115,387,085	A15E	probably benign	Het
Krtap24-1	T	C	16: 88,611,490	*249W	probably null	Het
Ktn1	T	G	14: 47,673,051	I318R	probably damaging	Het
L3mbtl2	A	G	15: 81,687,922	T710A	unknown	Het
Ldha	A	T	7: 46,855,032	Q326L	possibly damaging	Het
Map4	G	A	9: 110,072,706		probably null	Het
Mdfic	T	A	6: 15,770,515	H173Q	probably damaging	Het
Noxred1	T	A	12: 87,224,918	Q159L	possibly damaging	Het
Olfr114	C	T	17: 37,590,023	G110D	probably benign	Het
Olfr584	T	C	7: 103,085,989	V152A	probably benign	Het
Omd	T	C	13: 49,589,860	S129P	probably damaging	Het
Parp16	A	G	9: 65,233,727	Y193C	probably damaging	Het
Pdzk1	A	G	3: 96,855,858	T201A		Het
Phldb2	T	A	16: 45,781,393	H728L	possibly damaging	Het
Ptchd4	C	T	17: 42,502,750	T514I	probably damaging	Het
Pusl1	T	C	4: 155,891,637	D24G	probably benign	Het
Rai1	G	A	11: 60,189,339	A1410T	probably benign	Het
Rint1	T	A	5: 23,800,723	H134Q	possibly damaging	Het
Rnf170	A	G	8: 26,129,215	S156G	unknown	Het
Sectm1a	G	T	11: 121,069,664	D108E	probably damaging	Het
Senp7	T	A	16: 56,123,914	D200E	probably damaging	Het
Sfswap	A	G	5: 129,539,784	S431G	probably benign	Het
Sh3bp4	T	A	1: 89,145,750	D773E	probably damaging	Het
Shprh	T	C	10: 11,213,504	L1662P	probably damaging	Het
Slx4	G	T	16: 3,986,464	P829T	possibly damaging	Het
Snapc4	A	T	2: 26,378,521	S43T	probably damaging	Het
Ssh3	C	T	19: 4,262,409	R636Q	probably benign	Het
Strn4	G	A	7: 16,838,571	V679M	probably damaging	Het
Tas2r121	T	G	6: 132,700,802	Y69S	probably benign	Het
Tcerg1	C	T	18: 42,530,771	T341M	unknown	Het
Tjp2	A	C	19: 24,100,843	S895R	probably damaging	Het
Tmem220	G	T	11: 67,025,260	A28S	probably damaging	Het
Trdv1	G	A	14: 53,882,206	C109Y	probably damaging	Het
Trpc6	A	G	9: 8,634,189	Y423C	probably damaging	Het
Ttn	T	C	2: 76,794,683	M15184V	possibly damaging	Het
Ugt2b37	T	A	5: 87,242,943	Y355F	probably benign	Het
Vnn3	C	T	10: 23,869,556	R468*	probably null	Het
Washc5	T	A	15: 59,345,343	T792S	probably benign	Het
Wdfy4	T	C	14: 33,125,936	M820V		Het
Zfp961	T	A	8: 71,968,089	C149S	possibly damaging	Het
Zmat4	G	A	8: 23,748,491	V30M	probably damaging	Het

Other mutations in Rtf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01548:Rtf1	APN	2	119712108	missense	probably benign	0.37
IGL02010:Rtf1	APN	2	119701266	critical splice donor site	probably null
IGL02336:Rtf1	APN	2	119728745	splice site	probably benign
IGL03004:Rtf1	APN	2	119701273	splice site	probably benign
R0127:Rtf1	UTSW	2	119726743	missense	probably damaging	1.00
R0244:Rtf1	UTSW	2	119732877	missense	probably damaging	1.00
R1014:Rtf1	UTSW	2	119720246	missense	possibly damaging	0.83
R1387:Rtf1	UTSW	2	119705645	critical splice donor site	probably null
R1760:Rtf1	UTSW	2	119728408	missense	probably benign	0.01
R2114:Rtf1	UTSW	2	119705518	missense	probably benign	0.02
R2115:Rtf1	UTSW	2	119705518	missense	probably benign	0.02
R2117:Rtf1	UTSW	2	119705518	missense	probably benign	0.02
R2342:Rtf1	UTSW	2	119712117	missense	probably benign
R4552:Rtf1	UTSW	2	119730729	missense	probably benign	0.00
R4801:Rtf1	UTSW	2	119675228	missense	possibly damaging	0.94
R4802:Rtf1	UTSW	2	119675228	missense	possibly damaging	0.94
R4843:Rtf1	UTSW	2	119705536	missense	possibly damaging	0.68
R5539:Rtf1	UTSW	2	119729924	missense	possibly damaging	0.84
R6250:Rtf1	UTSW	2	119675177	missense	unknown
R6960:Rtf1	UTSW	2	119711078	missense	probably damaging	0.97
R7282:Rtf1	UTSW	2	119675099	missense	unknown
R8120:Rtf1	UTSW	2	119701121	missense	probably damaging	0.99
R8236:Rtf1	UTSW	2	119701214	missense	probably damaging	0.98
R8961:Rtf1	UTSW	2	119726896	missense	probably benign
X0026:Rtf1	UTSW	2	119726788	missense	probably benign	0.10

Predicted Primers

PCR Primer
(F):5'- CTTTTGTGTCACAGGGCATG -3'
(R):5'- GTGGGACAAGACATCCTGTG -3'

Sequencing Primer
(F):5'- ACAGGGCATGTGTGAGC -3'
(R):5'- CCTTATACCACTGTGAAGCTGGAG -3'

Posted On

2022-10-06