Mutagenetix > Incidental Mutations

Incidental Mutation 'R4833:Ttf2'

372968

Institutional Source

Beutler Lab

Gene Symbol

Ttf2

Ensembl Gene

ENSMUSG00000033222

Gene Name

transcription termination factor, RNA polymerase II

Synonyms

MMRRC Submission

042449-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.961) question?

Stock #

R4833 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

100938860-100969663 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 100961406 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 449 (E449G)

Ref Sequence

ENSEMBL: ENSMUSP00000076208 (fasta)

Gene Model

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

AlphaFold

Q5NC05

Predicted Effect

probably benign
Transcript: ENSMUST00000076941
AA Change: E449G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000076208
Gene: ENSMUSG00000033222
AA Change: E449G

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: ENSMUST00000127357

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200506

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

99% (74/75)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	C	A	19: 3,716,872	T153K	possibly damaging	Het
4932438A13Rik	A	G	3: 36,964,968	I2007V	probably damaging	Het
Abca5	A	C	11: 110,279,316	Y1318D	probably benign	Het
Adam18	A	G	8: 24,674,101	I22T	probably benign	Het
Adgrv1	T	A	13: 81,560,844	H1147L	possibly damaging	Het
Ankrd2	T	C	19: 42,043,857		probably null	Het
Bdkrb2	T	C	12: 105,591,658	W53R	probably benign	Het
Blm	T	A	7: 80,466,826	I1111L	probably benign	Het
Bmp3	T	G	5: 98,855,207	L32R	probably damaging	Het
Cdh23	T	G	10: 60,385,038	E1312A	probably damaging	Het
Ceacam5	C	T	7: 17,752,258	T560M	probably benign	Het
Cmtm8	C	A	9: 114,796,165	R66I	probably benign	Het
Cnbd1	A	G	4: 18,862,120	Y357H	probably damaging	Het
Col4a4	A	T	1: 82,529,602	V252E	unknown	Het
Col6a4	A	T	9: 106,071,979	M819K	probably benign	Het
Cwf19l2	T	C	9: 3,430,783	S372P	probably benign	Het
Daam2	A	T	17: 49,490,145	I204N	possibly damaging	Het
Dock6	T	C	9: 21,844,280	D216G	probably damaging	Het
Epha5	C	T	5: 84,105,891	D548N	possibly damaging	Het
Erich2	T	C	2: 70,534,292	Y311H	possibly damaging	Het
Gm3985	A	G	8: 32,890,477		noncoding transcript	Het
Gnb1	A	G	4: 155,543,067	T102A	possibly damaging	Het
Hcfc2	C	T	10: 82,709,146	A204V	probably null	Het
Hnrnpu	T	C	1: 178,333,894		probably benign	Het
Htt	A	G	5: 34,852,225	T1517A	probably damaging	Het
Klhl6	T	A	16: 19,957,139	D223V	probably damaging	Het
Kpna6	A	G	4: 129,657,779	S71P	possibly damaging	Het
Lama3	A	G	18: 12,441,131	D590G	probably benign	Het
Lipt1	T	G	1: 37,875,529	L222R	probably damaging	Het
Lrrc41	A	G	4: 116,093,177		probably benign	Het
Lrrc59	T	C	11: 94,634,672	V98A	probably benign	Het
Mast4	A	G	13: 102,774,184		probably null	Het
Mdc1	C	T	17: 35,850,394	S733F	probably benign	Het
Mknk1	C	T	4: 115,878,186		probably benign	Het
Mtmr7	A	G	8: 40,590,462	F141S	probably damaging	Het
Myo15b	A	G	11: 115,887,602	D1G	possibly damaging	Het
Odf3	T	C	7: 140,848,278	M1T	probably null	Het
Olfr1356	T	G	10: 78,847,575	L113F	probably damaging	Het
Phkb	T	A	8: 85,901,911	V183E	probably damaging	Het
Pola2	T	C	19: 5,953,864	Y161C	probably damaging	Het
Psen1	G	A	12: 83,731,778	V412I	probably benign	Het
Psmc4	C	A	7: 28,047,512	G77V	probably damaging	Het
Psmd3	A	G	11: 98,687,760	Y207C	probably damaging	Het
Pxk	T	A	14: 8,130,653	M84K	probably damaging	Het
Rab44	A	C	17: 29,136,337	Q19P	probably damaging	Het
Rbks	A	G	5: 31,624,515	Y314H	probably benign	Het
Rftn2	T	C	1: 55,214,240	D68G	possibly damaging	Het
Rims2	T	A	15: 39,535,914	S838R	probably damaging	Het
Sdc4	A	T	2: 164,431,218	D57E	probably damaging	Het
Slfn14	A	G	11: 83,279,156	L554P	probably damaging	Het
Spink2	G	T	5: 77,205,392	D83E	possibly damaging	Het
Srsf4	C	T	4: 131,900,102		probably benign	Het
Taar8b	A	T	10: 24,092,132	S55T	possibly damaging	Het
Tbca	A	G	13: 94,832,410	E35G	probably benign	Het
Tmc5	C	A	7: 118,628,829	H307Q	probably benign	Het
Tmem169	A	G	1: 72,298,152	D82G	probably benign	Het
Tmem72	T	C	6: 116,698,358	T58A	probably benign	Het
Ttc7	C	T	17: 87,334,321	P449S	probably damaging	Het
Ubr4	C	A	4: 139,402,546	T659K	probably damaging	Het
Wdr1	A	G	5: 38,547,029	Y98H	probably damaging	Het
Wfikkn2	A	G	11: 94,239,052	Y88H	probably benign	Het
Zfp384	A	T	6: 125,030,848	H247L	probably damaging	Het
Zfp526	C	T	7: 25,225,870	A518V	probably damaging	Het
Zfp788	T	A	7: 41,647,568	H47Q	probably benign	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
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
R6531:Ttf2	UTSW	3	100956260	missense	probably damaging	0.99
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
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'- CATAACTTATCAGCTTGCCACAGC -3'
(R):5'- TTCCAGGCGTTCTCCTAGTG -3'

Sequencing Primer
(F):5'- CAGCAGGGCTAAGTCCTTTGAAC -3'
(R):5'- CCAGGCGTTCTCCTAGTGATATG -3'

Posted On

2016-03-01