Mutagenetix > Incidental Mutation

Incidental Mutation 'R8872:Ttf2'

676341

Institutional Source

Beutler Lab

Gene Symbol

Ttf2

Ensembl Gene

ENSMUSG00000033222

Gene Name

transcription termination factor, RNA polymerase II

Synonyms

4632434F22Rik

MMRRC Submission

068743-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R8872 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

100846176-100876979 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 100870644 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 143 (V143A)

Ref Sequence

ENSEMBL: ENSMUSP00000076208 (fasta)

Gene Model

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

AlphaFold

Q5NC05

Predicted Effect

probably benign
Transcript: ENSMUST00000076941
AA Change: V143A

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000076208
Gene: ENSMUSG00000033222
AA Change: V143A

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700067P10Rik	A	G	17: 48,401,164 (GRCm39)	S150G	possibly damaging	Het
Alpk2	A	T	18: 65,413,977 (GRCm39)	S1579R	probably damaging	Het
Ank2	C	T	3: 126,791,525 (GRCm39)	E814K	possibly damaging	Het
Cep57	A	G	9: 13,737,980 (GRCm39)		probably benign	Het
Cntnap4	A	T	8: 113,585,759 (GRCm39)	R1127S	possibly damaging	Het
Comt	C	A	16: 18,245,239 (GRCm39)		probably benign	Het
Crlf3	T	C	11: 79,938,440 (GRCm39)	N399S		Het
Crls1	T	A	2: 132,691,819 (GRCm39)	S115T	probably benign	Het
Dixdc1	A	G	9: 50,614,453 (GRCm39)	S199P	possibly damaging	Het
Dsc3	T	C	18: 20,122,679 (GRCm39)	T82A	probably benign	Het
Efcab3	T	G	11: 104,760,880 (GRCm39)	L2411R	probably benign	Het
Exosc6	T	A	8: 111,783,784 (GRCm39)	V261E	probably damaging	Het
Fbxw17	C	T	13: 50,586,300 (GRCm39)	S361L	probably benign	Het
Gfap	T	A	11: 102,786,620 (GRCm39)	N157Y	possibly damaging	Het
Gigyf2	A	T	1: 87,307,725 (GRCm39)	D177V	unknown	Het
Gls2	A	T	10: 128,040,535 (GRCm39)	Q312L	probably benign	Het
Gpr155	C	T	2: 73,197,936 (GRCm39)	V395I	probably benign	Het
Greb1l	A	T	18: 10,529,684 (GRCm39)	M889L	probably benign	Het
Gucy1a1	T	A	3: 82,016,049 (GRCm39)	D313V	probably damaging	Het
H2-T5	T	A	17: 36,476,293 (GRCm39)	I324F	probably benign	Het
Herpud1	C	T	8: 95,113,213 (GRCm39)		probably benign	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Il27	A	C	7: 126,190,194 (GRCm39)	L140R	probably damaging	Het
Jarid2	T	C	13: 45,055,984 (GRCm39)	S397P	possibly damaging	Het
Kdm5a	A	C	6: 120,365,101 (GRCm39)	D334A	probably damaging	Het
Lman2	T	C	13: 55,496,197 (GRCm39)	T283A	probably benign	Het
Lrfn2	C	T	17: 49,378,277 (GRCm39)	Q453*	probably null	Het
Lrrfip2	A	G	9: 111,034,824 (GRCm39)	E171G	possibly damaging	Het
Mboat1	T	A	13: 30,410,397 (GRCm39)	Y285N	probably damaging	Het
Med15	C	A	16: 17,470,605 (GRCm39)	S734I	probably damaging	Het
Mgat4c	T	A	10: 102,224,146 (GRCm39)	I120N	probably damaging	Het
Ms4a4d	T	C	19: 11,530,251 (GRCm39)	M104T	possibly damaging	Het
Mtf2	A	T	5: 108,247,051 (GRCm39)	M330L	probably benign	Het
Myoc	T	C	1: 162,475,013 (GRCm39)	V188A	probably benign	Het
Nos2	T	A	11: 78,839,949 (GRCm39)	I686N	probably damaging	Het
Npffr1	T	C	10: 61,461,794 (GRCm39)	V310A	probably benign	Het
Nrap	T	C	19: 56,308,627 (GRCm39)	*1729W	probably null	Het
Odam	A	G	5: 88,035,797 (GRCm39)		probably null	Het
Olfm4	G	T	14: 80,258,943 (GRCm39)	R397L	probably damaging	Het
Or1p1c	T	G	11: 74,160,120 (GRCm39)		probably benign	Het
Polr1b	T	C	2: 128,957,613 (GRCm39)	V556A	probably damaging	Het
Prl3d3	A	G	13: 27,346,324 (GRCm39)	D186G	possibly damaging	Het
Psmc5	C	A	11: 106,152,746 (GRCm39)	Y189*	probably null	Het
Rasgrp4	A	G	7: 28,838,521 (GRCm39)	Y123C	possibly damaging	Het
Rtn4	A	G	11: 29,658,633 (GRCm39)	E929G	probably benign	Het
Scrn2	A	T	11: 96,922,961 (GRCm39)	I135F	probably damaging	Het
Sec24d	T	A	3: 123,148,585 (GRCm39)		probably benign	Het
Secisbp2l	T	C	2: 125,594,892 (GRCm39)	T523A	probably benign	Het
Skic3	T	C	13: 76,333,326 (GRCm39)	L1525P	probably damaging	Het
Slain1	T	A	14: 103,925,841 (GRCm39)		probably null	Het
Slc22a29	A	G	19: 8,137,931 (GRCm39)	V548A	probably damaging	Het
Slc25a32	T	C	15: 38,969,339 (GRCm39)	I65V	probably benign	Het
Slc30a7	A	T	3: 115,740,317 (GRCm39)	M378K	possibly damaging	Het
Smarcd1	T	A	15: 99,608,975 (GRCm39)	I383N	probably damaging	Het
Spata31h1	A	T	10: 82,128,619 (GRCm39)	S1464T	probably benign	Het
Spdye4b	G	T	5: 143,187,815 (GRCm39)	K156N	probably damaging	Het
Sptb	A	G	12: 76,658,813 (GRCm39)	Y1241H	probably benign	Het
Ssu2	G	A	6: 112,357,956 (GRCm39)	T129I	probably damaging	Het
Supt16	A	G	14: 52,411,544 (GRCm39)	V613A	probably benign	Het
Sycp3	A	T	10: 88,302,388 (GRCm39)	E126V	probably damaging	Het
Tatdn2	A	T	6: 113,681,170 (GRCm39)	Y401F	probably damaging	Het
Tigd4	T	C	3: 84,501,547 (GRCm39)	S155P	probably benign	Het
Tnrc6b	A	G	15: 80,802,290 (GRCm39)	N1502S	probably benign	Het
Ttn	T	A	2: 76,618,747 (GRCm39)	D16179V	probably damaging	Het
Vmn2r106	A	T	17: 20,488,401 (GRCm39)	M666K	probably benign	Het
Vwa5b1	A	T	4: 138,305,956 (GRCm39)	V914D	probably damaging	Het
Wnk2	T	C	13: 49,210,960 (GRCm39)	M1632V	probably benign	Het
Zbtb26	T	A	2: 37,326,913 (GRCm39)	N41I	probably damaging	Het
Zc3h12a	T	C	4: 125,020,412 (GRCm39)	N144D	probably damaging	Het
Zfp266	A	T	9: 20,411,275 (GRCm39)	C301S	probably benign	Het
Zfp580	A	G	7: 5,056,216 (GRCm39)	H192R	possibly damaging	Het
Zfp748	A	G	13: 67,689,914 (GRCm39)	C449R	probably damaging	Het
Zp2	T	C	7: 119,733,025 (GRCm39)	I612V	probably benign	Het

Other mutations in Ttf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01118:Ttf2	APN	3	100,874,413 (GRCm39)	splice site	probably benign
IGL01578:Ttf2	APN	3	100,863,511 (GRCm39)	missense	possibly damaging	0.59
IGL02218:Ttf2	APN	3	100,871,409 (GRCm39)	missense	possibly damaging	0.61
IGL03267:Ttf2	APN	3	100,852,120 (GRCm39)	nonsense	probably null
FR4548:Ttf2	UTSW	3	100,870,476 (GRCm39)	small insertion	probably benign
FR4737:Ttf2	UTSW	3	100,870,476 (GRCm39)	small insertion	probably benign
R0784:Ttf2	UTSW	3	100,870,026 (GRCm39)	missense	probably benign	0.01
R0894:Ttf2	UTSW	3	100,876,865 (GRCm39)	splice site	probably benign
R2083:Ttf2	UTSW	3	100,876,817 (GRCm39)	missense	probably benign	0.18
R2125:Ttf2	UTSW	3	100,855,509 (GRCm39)	missense	possibly damaging	0.93
R2126:Ttf2	UTSW	3	100,855,509 (GRCm39)	missense	possibly damaging	0.93
R2230:Ttf2	UTSW	3	100,865,260 (GRCm39)	missense	probably damaging	0.99
R3084:Ttf2	UTSW	3	100,855,580 (GRCm39)	missense	possibly damaging	0.56
R3700:Ttf2	UTSW	3	100,858,324 (GRCm39)	missense	probably damaging	1.00
R3963:Ttf2	UTSW	3	100,849,136 (GRCm39)	unclassified	probably benign
R4002:Ttf2	UTSW	3	100,855,541 (GRCm39)	nonsense	probably null
R4290:Ttf2	UTSW	3	100,870,077 (GRCm39)	missense	probably benign	0.01
R4833:Ttf2	UTSW	3	100,868,722 (GRCm39)	missense	probably benign	0.00
R4909:Ttf2	UTSW	3	100,861,631 (GRCm39)	missense	probably damaging	1.00
R5011:Ttf2	UTSW	3	100,870,485 (GRCm39)	missense	probably benign	0.14
R5523:Ttf2	UTSW	3	100,866,558 (GRCm39)	missense	probably damaging	1.00
R5669:Ttf2	UTSW	3	100,858,433 (GRCm39)	nonsense	probably null
R6531:Ttf2	UTSW	3	100,863,576 (GRCm39)	missense	probably damaging	0.99
R6776:Ttf2	UTSW	3	100,859,869 (GRCm39)	missense	probably benign	0.01
R6795:Ttf2	UTSW	3	100,866,578 (GRCm39)	missense	probably damaging	1.00
R6861:Ttf2	UTSW	3	100,876,941 (GRCm39)	missense	possibly damaging	0.89
R6940:Ttf2	UTSW	3	100,876,831 (GRCm39)	missense	probably damaging	1.00
R6958:Ttf2	UTSW	3	100,853,248 (GRCm39)	missense	probably benign	0.30
R6962:Ttf2	UTSW	3	100,858,453 (GRCm39)	missense	probably damaging	1.00
R7211:Ttf2	UTSW	3	100,866,623 (GRCm39)	missense	probably benign	0.00
R7365:Ttf2	UTSW	3	100,870,618 (GRCm39)	missense	possibly damaging	0.92
R7470:Ttf2	UTSW	3	100,870,478 (GRCm39)	missense	possibly damaging	0.85
R7534:Ttf2	UTSW	3	100,857,728 (GRCm39)	splice site	probably null
R8023:Ttf2	UTSW	3	100,863,571 (GRCm39)	missense	probably benign	0.01
R8087:Ttf2	UTSW	3	100,871,412 (GRCm39)	missense	probably damaging	0.96
R8219:Ttf2	UTSW	3	100,869,879 (GRCm39)	missense	possibly damaging	0.94
R8757:Ttf2	UTSW	3	100,857,648 (GRCm39)	missense	probably damaging	1.00
R8888:Ttf2	UTSW	3	100,870,028 (GRCm39)	missense	probably benign	0.00
R8895:Ttf2	UTSW	3	100,870,028 (GRCm39)	missense	probably benign	0.00
R8900:Ttf2	UTSW	3	100,859,956 (GRCm39)	missense	probably damaging	1.00
R8942:Ttf2	UTSW	3	100,869,042 (GRCm39)	missense	probably benign	0.00
R9204:Ttf2	UTSW	3	100,869,880 (GRCm39)	missense	probably benign	0.12
R9451:Ttf2	UTSW	3	100,852,089 (GRCm39)	missense	probably damaging	1.00
R9622:Ttf2	UTSW	3	100,859,918 (GRCm39)	missense	probably benign	0.07
R9704:Ttf2	UTSW	3	100,859,920 (GRCm39)	missense	probably damaging	1.00
RF027:Ttf2	UTSW	3	100,870,473 (GRCm39)	small insertion	probably benign
RF035:Ttf2	UTSW	3	100,870,473 (GRCm39)	small insertion	probably benign
Z1177:Ttf2	UTSW	3	100,866,582 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TCCATGGCCTTGCTTGGAAG -3'
(R):5'- CATTTTAGATACAAGGCAGCCC -3'

Sequencing Primer
(F):5'- GAAGCCATTCCTTCAGCTTTCTTAG -3'
(R):5'- CTGTAACCAGTAAGCCTCAG -3'

Posted On

2021-07-15