Mutagenetix > Incidental Mutation

Incidental Mutation 'R2083:Ttf2'

230132

Institutional Source

Beutler Lab

Gene Symbol

Ttf2

Ensembl Gene

ENSMUSG00000033222

Gene Name

transcription termination factor, RNA polymerase II

Synonyms

MMRRC Submission

040088-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.960) question?

Stock #

R2083 (G1)

Quality Score

197

Status

Not validated

Chromosome

Chromosomal Location

100938860-100969663 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 100969501 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 21 (D21E)

Ref Sequence

ENSEMBL: ENSMUSP00000076208 (fasta)

Gene Model

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

AlphaFold

Q5NC05

Predicted Effect

probably benign
Transcript: ENSMUST00000076941
AA Change: D21E

PolyPhen 2 Score 0.183 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000076208
Gene: ENSMUSG00000033222
AA Change: D21E

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J03Rik	T	A	5: 146,184,871	M73L	possibly damaging	Het
AA986860	A	T	1: 130,741,069	I58F	probably damaging	Het
Acsl3	A	T	1: 78,699,811	K507N	probably damaging	Het
Adcy3	T	C	12: 4,173,512	Y245H	probably damaging	Het
Adgra1	T	C	7: 139,875,631	S392P	probably damaging	Het
Ahnak	C	T	19: 9,011,557	P3402S	probably damaging	Het
Ambra1	T	A	2: 91,766,600	I12N	possibly damaging	Het
Atp10b	A	G	11: 43,212,423	T545A	probably benign	Het
Atxn2	G	T	5: 121,784,006	A638S	probably benign	Het
Cd109	T	C	9: 78,667,293	S520P	probably damaging	Het
Col6a3	T	C	1: 90,782,011	D1821G	unknown	Het
Cyp4a10	T	C	4: 115,525,308	V265A	possibly damaging	Het
Dmrtb1	C	T	4: 107,683,612	R184Q	possibly damaging	Het
Dnah7b	A	T	1: 46,241,067	I2719F	possibly damaging	Het
En2	T	C	5: 28,167,073	S183P	probably damaging	Het
Etfb	A	G	7: 43,456,500	T101A	probably benign	Het
Etl4	T	A	2: 20,743,549	S364T	probably damaging	Het
Fam196b	A	G	11: 34,402,141	D61G	probably benign	Het
Gm17728	C	A	17: 9,422,289	S77Y	possibly damaging	Het
Golga4	A	G	9: 118,532,590	E221G	probably damaging	Het
Gpr37	T	C	6: 25,688,417	N227S	possibly damaging	Het
Kctd1	A	T	18: 14,974,055	N784K	possibly damaging	Het
Klhl22	A	G	16: 17,776,525	T173A	probably benign	Het
Ly6e	T	A	15: 74,958,319	C41S	probably damaging	Het
Mapkbp1	T	C	2: 120,015,482	L444P	possibly damaging	Het
Mkx	A	T	18: 6,992,855	I143K	probably damaging	Het
Mlh3	A	G	12: 85,269,041	F124L	probably benign	Het
Nlrp1a	A	T	11: 71,124,220	L68H	possibly damaging	Het
Obscn	A	C	11: 59,073,631	Y726*	probably null	Het
Olfr1312	C	T	2: 112,042,553	V160I	probably benign	Het
Olfr26	T	G	9: 38,855,341	V93G	probably benign	Het
Peak1	G	A	9: 56,258,949	S565L	probably damaging	Het
Pter	T	A	2: 12,978,436	L84Q	probably damaging	Het
Ptpn4	A	G	1: 119,687,759	L555P	possibly damaging	Het
Rpp40	A	T	13: 35,898,992	M171K	probably benign	Het
Sacs	A	G	14: 61,206,506	I2000M	possibly damaging	Het
Scn5a	T	C	9: 119,492,123	I1458V	probably benign	Het
Slc38a4	T	C	15: 97,008,993	D288G	probably benign	Het
Slc8a2	T	G	7: 16,134,515	V224G	probably damaging	Het
Sptbn4	T	C	7: 27,428,256	E173G	probably benign	Het
Tas1r1	T	A	4: 152,028,391	H735L	probably benign	Het
Trps1	G	T	15: 50,822,305	Q155K	probably damaging	Het
Tspyl5	T	C	15: 33,686,746	H351R	probably damaging	Het
Ttll7	A	G	3: 146,930,104	R398G	possibly damaging	Het
Tubgcp6	A	T	15: 89,122,376	Y148N	probably damaging	Het
Vmn1r8	T	A	6: 57,036,340	H125Q	probably benign	Het
Zfhx4	A	G	3: 5,403,163	T2794A	possibly damaging	Het
Zfp27	T	C	7: 29,894,783	I586V	probably benign	Het
Zfyve16	T	C	13: 92,524,262	D13G	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
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
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
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'- TTGAAGCAGACTCTAGAAGGATC -3'
(R):5'- ACTCTCCCGCTTGATTGGTG -3'

Sequencing Primer
(F):5'- CTCTAGAAGGATCGGAGTGTG -3'
(R):5'- CGGAGTCAAAGACGGAAACCC -3'

Posted On

2014-09-18