Mutagenetix > Incidental Mutation

Incidental Mutation 'R6531:Ttf2'

522328

Institutional Source

Beutler Lab

Gene Symbol

Ttf2

Ensembl Gene

ENSMUSG00000033222

Gene Name

transcription termination factor, RNA polymerase II

Synonyms

MMRRC Submission

044657-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.960) question?

Stock #

R6531 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

100938860-100969663 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 100956260 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 586 (I586T)

Ref Sequence

ENSEMBL: ENSMUSP00000076208 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076941]

AlphaFold

Q5NC05

Predicted Effect

probably damaging
Transcript: ENSMUST00000076941
AA Change: I586T

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000076208
Gene: ENSMUSG00000033222
AA Change: I586T

Domain	Start	End	E-Value	Type
Pfam:zf-GRF	4	44	2.3e-10	PFAM
low complexity region	328	340	N/A	INTRINSIC
low complexity region	425	436	N/A	INTRINSIC
low complexity region	458	479	N/A	INTRINSIC
DEXDc	542	774	8.6e-35	SMART
Blast:DEXDc	839	892	8e-7	BLAST
low complexity region	893	909	N/A	INTRINSIC
low complexity region	917	932	N/A	INTRINSIC
HELICc	999	1082	5.61e-16	SMART
low complexity region	1099	1110	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122449

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127357

Predicted Effect

probably benign
Transcript: ENSMUST00000151697

SMART Domains

Protein: ENSMUSP00000119032
Gene: ENSMUSG00000033222

Domain	Start	End	E-Value	Type
Blast:DEXDc	21	82	1e-20	BLAST
low complexity region	105	121	N/A	INTRINSIC
low complexity region	153	168	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200506

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.2%
20x: 90.6%

Validation Efficiency

100% (46/46)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the SWI2/SNF2 family of proteins, which play a critical role in altering protein-DNA interactions. The encoded protein has been shown to have dsDNA-dependent ATPase activity and RNA polymerase II termination activity. This protein interacts with cell division cycle 5-like, associates with human splicing complexes, and plays a role in pre-mRNA splicing. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	A	G	6: 91,949,999	E880G	possibly damaging	Het
Acsbg2	T	A	17: 56,846,617	I529F	probably damaging	Het
Ahcyl2	T	G	6: 29,886,162	M359R	probably benign	Het
Aldh5a1	G	T	13: 24,918,564	D305E	probably benign	Het
Catsper2	C	G	2: 121,399,780	V358L	possibly damaging	Het
Cd200r4	C	T	16: 44,833,505	Q222*	probably null	Het
Col4a2	T	A	8: 11,408,135	D270E	probably benign	Het
Cux1	T	C	5: 136,275,119	D1401G	probably benign	Het
Cyp3a59	T	A	5: 146,098,217	M235K	probably benign	Het
Dock3	T	C	9: 106,967,216	D895G	probably benign	Het
Dusp27	A	T	1: 166,110,046		probably null	Het
Dync1h1	T	C	12: 110,617,920	F586L	probably damaging	Het
Elmo1	G	T	13: 20,572,446	R568L	possibly damaging	Het
Epb41	T	C	4: 131,957,636	T711A	probably benign	Het
Grm7	T	A	6: 111,358,425	M599K	probably benign	Het
Hivep3	A	T	4: 120,122,876	K1704*	probably null	Het
Ighv1-62-3	C	A	12: 115,461,006	C115F	probably damaging	Het
Krt78	A	G	15: 101,952,273	Y200H	probably benign	Het
Lamb2	A	T	9: 108,483,726	H549L	possibly damaging	Het
Mroh3	A	G	1: 136,184,353	I759T	probably benign	Het
Ncbp2	CGTCTGGATG	CG	16: 31,956,343		probably null	Het
Nol6	G	T	4: 41,118,154	P828T	probably benign	Het
Olfr1030	A	G	2: 85,984,307	I156V	probably benign	Het
Olfr1132	A	G	2: 87,635,529	Y73H	probably damaging	Het
Olfr1264	A	G	2: 90,021,457	V203A	probably benign	Het
Olfr344	G	A	2: 36,569,341	V248I	probably damaging	Het
Ovgp1	A	C	3: 105,987,071		probably benign	Het
Pitpnm3	T	A	11: 72,071,487	Q230L	possibly damaging	Het
Pkn1	C	T	8: 83,670,293	V910I	probably benign	Het
Plcb1	T	A	2: 135,325,802		probably null	Het
Ppp1r12c	A	G	7: 4,482,789		probably null	Het
Rassf5	T	A	1: 131,244,814	Q106L	possibly damaging	Het
Rfc1	T	C	5: 65,312,979	K62E	possibly damaging	Het
Sf3b1	C	T	1: 55,019,395	E12K	probably damaging	Het
Slc4a1ap	A	T	5: 31,548,638	D691V	probably benign	Het
Speg	T	A	1: 75,422,757	F2283I	probably benign	Het
Synj2	A	G	17: 6,033,839	K267E	probably damaging	Het
Tg	A	T	15: 66,839,362	Y991F	probably damaging	Het
Tlk1	A	T	2: 70,742,083	D380E	probably benign	Het
Trim43b	A	T	9: 89,085,365	L405H	probably damaging	Het
Ugt2b36	T	A	5: 87,081,586	R213S	probably damaging	Het
Vmn1r198	T	A	13: 22,354,407	M21K	probably benign	Het
Wdr35	A	T	12: 8,978,685	Y101F	probably benign	Het
Zfp367	T	C	13: 64,144,250	Y189C	probably damaging	Het

Other mutations in Ttf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01118:Ttf2	APN	3	100967097	splice site	probably benign
IGL01578:Ttf2	APN	3	100956195	missense	possibly damaging	0.59
IGL02218:Ttf2	APN	3	100964093	missense	possibly damaging	0.61
IGL03267:Ttf2	APN	3	100944804	nonsense	probably null
FR4548:Ttf2	UTSW	3	100963160	small insertion	probably benign
FR4737:Ttf2	UTSW	3	100963160	small insertion	probably benign
R0784:Ttf2	UTSW	3	100962710	missense	probably benign	0.01
R0894:Ttf2	UTSW	3	100969549	splice site	probably benign
R2083:Ttf2	UTSW	3	100969501	missense	probably benign	0.18
R2125:Ttf2	UTSW	3	100948193	missense	possibly damaging	0.93
R2126:Ttf2	UTSW	3	100948193	missense	possibly damaging	0.93
R2230:Ttf2	UTSW	3	100957944	missense	probably damaging	0.99
R3084:Ttf2	UTSW	3	100948264	missense	possibly damaging	0.56
R3700:Ttf2	UTSW	3	100951008	missense	probably damaging	1.00
R3963:Ttf2	UTSW	3	100941820	unclassified	probably benign
R4002:Ttf2	UTSW	3	100948225	nonsense	probably null
R4290:Ttf2	UTSW	3	100962761	missense	probably benign	0.01
R4833:Ttf2	UTSW	3	100961406	missense	probably benign	0.00
R4909:Ttf2	UTSW	3	100954315	missense	probably damaging	1.00
R5011:Ttf2	UTSW	3	100963169	missense	probably benign	0.14
R5523:Ttf2	UTSW	3	100959242	missense	probably damaging	1.00
R5669:Ttf2	UTSW	3	100951117	nonsense	probably null
R6776:Ttf2	UTSW	3	100952553	missense	probably benign	0.01
R6795:Ttf2	UTSW	3	100959262	missense	probably damaging	1.00
R6861:Ttf2	UTSW	3	100969625	missense	possibly damaging	0.89
R6940:Ttf2	UTSW	3	100969515	missense	probably damaging	1.00
R6958:Ttf2	UTSW	3	100945932	missense	probably benign	0.30
R6962:Ttf2	UTSW	3	100951137	missense	probably damaging	1.00
R7211:Ttf2	UTSW	3	100959307	missense	probably benign	0.00
R7365:Ttf2	UTSW	3	100963302	missense	possibly damaging	0.92
R7470:Ttf2	UTSW	3	100963162	missense	possibly damaging	0.85
R7534:Ttf2	UTSW	3	100950412	splice site	probably null
R8023:Ttf2	UTSW	3	100956255	missense	probably benign	0.01
R8087:Ttf2	UTSW	3	100964096	missense	probably damaging	0.96
R8219:Ttf2	UTSW	3	100962563	missense	possibly damaging	0.94
R8757:Ttf2	UTSW	3	100950332	missense	probably damaging	1.00
R8872:Ttf2	UTSW	3	100963328	missense	probably benign	0.04
R8888:Ttf2	UTSW	3	100962712	missense	probably benign	0.00
R8895:Ttf2	UTSW	3	100962712	missense	probably benign	0.00
R8900:Ttf2	UTSW	3	100952640	missense	probably damaging	1.00
R8942:Ttf2	UTSW	3	100961726	missense	probably benign	0.00
R9204:Ttf2	UTSW	3	100962564	missense	probably benign	0.12
R9451:Ttf2	UTSW	3	100944773	missense	probably damaging	1.00
R9622:Ttf2	UTSW	3	100952602	missense	probably benign	0.07
R9704:Ttf2	UTSW	3	100952604	missense	probably damaging	1.00
RF027:Ttf2	UTSW	3	100963157	small insertion	probably benign
RF035:Ttf2	UTSW	3	100963157	small insertion	probably benign
Z1177:Ttf2	UTSW	3	100959266	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CTTGCTGCACTACCAAGAGG -3'
(R):5'- TCTGACCTCGATCTCCATACAAATG -3'

Sequencing Primer
(F):5'- TTCTAAATCCAGAGACCCACTG -3'
(R):5'- CCATACAAATGGCAGGAGGC -3'

Posted On

2018-06-06