Mutagenetix > Incidental Mutation

Incidental Mutation 'R2126:Ttf2'

229857

Institutional Source

Beutler Lab

Gene Symbol

Ttf2

Ensembl Gene

ENSMUSG00000033222

Gene Name

transcription termination factor, RNA polymerase II

Synonyms

4632434F22Rik

MMRRC Submission

040129-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R2126 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

100846176-100876979 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 100855509 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Histidine at position 895 (Q895H)

Ref Sequence

ENSEMBL: ENSMUSP00000076208 (fasta)

Gene Model

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

AlphaFold

Q5NC05

Predicted Effect

possibly damaging
Transcript: ENSMUST00000076941
AA Change: Q895H

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000076208
Gene: ENSMUSG00000033222
AA Change: Q895H

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: ENSMUST00000145811

Predicted Effect

unknown
Transcript: ENSMUST00000151697
AA Change: Q106H

SMART Domains

Protein: ENSMUSP00000119032
Gene: ENSMUSG00000033222
AA Change: Q106H

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

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: 116 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadac	A	G	3: 59,947,066 (GRCm39)	T255A	possibly damaging	Het
Acat3	C	T	17: 13,146,294 (GRCm39)	A230T	probably benign	Het
Acsl1	C	A	8: 46,986,663 (GRCm39)	P650Q	probably benign	Het
Adgrl3	T	A	5: 81,660,383 (GRCm39)	I316N	probably damaging	Het
Agrp	G	T	8: 106,293,467 (GRCm39)	T106K	probably damaging	Het
AI429214	T	A	8: 37,461,362 (GRCm39)	V170E	probably benign	Het
Akap13	G	A	7: 75,375,052 (GRCm39)	G1895S	possibly damaging	Het
Alpk2	G	A	18: 65,483,439 (GRCm39)	Q190*	probably null	Het
Aox3	C	A	1: 58,197,375 (GRCm39)	Q574K	probably benign	Het
Apeh	A	G	9: 107,962,866 (GRCm39)	Y702H	probably damaging	Het
Aqp11	A	G	7: 97,386,692 (GRCm39)	I151T	probably benign	Het
Arhgap28	A	G	17: 68,176,010 (GRCm39)	V363A	possibly damaging	Het
Arhgef18	A	G	8: 3,501,939 (GRCm39)	N699S	probably damaging	Het
Asnsd1	A	G	1: 53,386,476 (GRCm39)	S384P	probably benign	Het
Atl1	G	T	12: 69,978,431 (GRCm39)		probably null	Het
Atp13a2	A	T	4: 140,722,702 (GRCm39)	D203V	possibly damaging	Het
Axdnd1	A	T	1: 156,160,784 (GRCm39)	N164K	probably benign	Het
Bnipl	T	A	3: 95,152,994 (GRCm39)	I162F	probably damaging	Het
Cacna1d	A	T	14: 29,845,120 (GRCm39)	L655I	probably damaging	Het
Canx	T	C	11: 50,195,185 (GRCm39)	I294M	probably damaging	Het
Casz1	T	C	4: 149,030,521 (GRCm39)	F1180S	probably damaging	Het
Cav3	T	C	6: 112,449,344 (GRCm39)	Y121H	probably benign	Het
Cd4	A	C	6: 124,847,499 (GRCm39)	S222A	probably benign	Het
Cds1	T	C	5: 101,960,416 (GRCm39)	I289T	probably benign	Het
Cep112	T	C	11: 108,399,084 (GRCm39)	F328L	probably damaging	Het
Ces4a	G	A	8: 105,864,729 (GRCm39)	G69S	probably damaging	Het
Cfap44	A	T	16: 44,230,838 (GRCm39)	D273V	probably benign	Het
Cfap91	T	C	16: 38,162,124 (GRCm39)	T6A	probably benign	Het
Clec7a	C	T	6: 129,447,918 (GRCm39)	G49D	probably benign	Het
Col22a1	G	A	15: 71,729,102 (GRCm39)	Q599*	probably null	Het
Col6a5	T	A	9: 105,822,799 (GRCm39)	H186L	unknown	Het
Dclk2	C	T	3: 86,712,946 (GRCm39)	R503Q	possibly damaging	Het
Dnah12	A	T	14: 26,445,613 (GRCm39)	R725*	probably null	Het
Dnajc10	G	A	2: 80,181,078 (GRCm39)		probably null	Het
Edem3	A	T	1: 151,670,482 (GRCm39)	H337L	possibly damaging	Het
Eif2ak4	A	T	2: 118,252,604 (GRCm39)	H392L	probably benign	Het
Ercc6l2	G	A	13: 63,996,585 (GRCm39)	V365I	probably damaging	Het
Fan1	T	C	7: 63,996,636 (GRCm39)	E978G	probably damaging	Het
Fcrl6	C	T	1: 172,426,815 (GRCm39)	V44M	probably benign	Het
Gaa	G	A	11: 119,161,108 (GRCm39)	W50*	probably null	Het
Gm10032	T	C	14: 67,030,227 (GRCm39)		noncoding transcript	Het
Gm10985	CTCTAT	CT	3: 53,752,670 (GRCm39)		probably null	Het
Gprc5b	G	T	7: 118,583,398 (GRCm39)	P157Q	probably damaging	Het
Gsdmc3	G	A	15: 63,730,383 (GRCm39)	Q394*	probably null	Het
Gucd1	A	G	10: 75,347,922 (GRCm39)	S38P	probably damaging	Het
Higd1a	A	T	9: 121,679,313 (GRCm39)	I58N	probably damaging	Het
Hmx3	G	C	7: 131,146,278 (GRCm39)	V329L	possibly damaging	Het
Hnrnpul2	A	T	19: 8,801,802 (GRCm39)	R337*	probably null	Het
Idua	T	A	5: 108,829,304 (GRCm39)	H368Q	possibly damaging	Het
Ifih1	A	G	2: 62,453,811 (GRCm39)	V218A	probably benign	Het
Ip6k1	G	A	9: 107,918,195 (GRCm39)	E77K	possibly damaging	Het
Kif1b	G	A	4: 149,272,097 (GRCm39)	S1568L	possibly damaging	Het
Klhl30	T	A	1: 91,286,499 (GRCm39)		probably null	Het
Lasp1	T	A	11: 97,726,960 (GRCm39)	D227E	probably benign	Het
Lhx6	A	G	2: 35,981,336 (GRCm39)	I85T	possibly damaging	Het
Limch1	A	G	5: 67,187,103 (GRCm39)	D840G	probably damaging	Het
Loxl4	C	G	19: 42,592,402 (GRCm39)	E385D	probably damaging	Het
Lrrtm4	A	T	6: 79,998,722 (GRCm39)	I44F	probably damaging	Het
Ltbp2	T	C	12: 84,832,483 (GRCm39)		probably null	Het
Lyg1	T	C	1: 37,989,755 (GRCm39)	Y44C	probably damaging	Het
Map1a	A	G	2: 121,129,122 (GRCm39)	I129V	probably damaging	Het
Med27	C	T	2: 29,414,442 (GRCm39)	Q150*	probably null	Het
Ms4a5	A	T	19: 11,256,732 (GRCm39)	I55N	probably damaging	Het
Muc5ac	T	C	7: 141,364,479 (GRCm39)	S2597P	possibly damaging	Het
Mxd1	A	C	6: 86,628,422 (GRCm39)		probably null	Het
Myo3a	A	G	2: 22,468,186 (GRCm39)	D480G	probably benign	Het
Neb	T	C	2: 52,200,650 (GRCm39)	Y343C	probably damaging	Het
Niban1	A	C	1: 151,571,886 (GRCm39)	E277A	probably damaging	Het
Niban1	A	G	1: 151,584,884 (GRCm39)	I494V	possibly damaging	Het
Nrn1	A	C	13: 36,914,180 (GRCm39)	V34G	probably damaging	Het
Or4k52	A	G	2: 111,610,841 (GRCm39)	M59V	probably damaging	Het
Or4n5	A	G	14: 50,132,524 (GRCm39)	I245T	probably benign	Het
Or52b1	C	T	7: 104,978,459 (GRCm39)	W313*	probably null	Het
Or56a3	A	G	7: 104,735,822 (GRCm39)	T300A	probably damaging	Het
Or8b39	G	T	9: 37,996,572 (GRCm39)	V147L	probably benign	Het
Or8h9	T	C	2: 86,789,442 (GRCm39)	Y120C	possibly damaging	Het
Or8k40	A	T	2: 86,584,796 (GRCm39)	N95K	probably benign	Het
Pdia4	A	T	6: 47,773,771 (GRCm39)	V526E	probably damaging	Het
Pdia6	T	C	12: 17,328,546 (GRCm39)	V167A	probably damaging	Het
Pgk2	A	G	17: 40,518,400 (GRCm39)	F343L	probably damaging	Het
Piwil1	T	C	5: 128,831,160 (GRCm39)	V827A	probably damaging	Het
Plag1	A	T	4: 3,904,169 (GRCm39)	Y341N	possibly damaging	Het
Plch2	T	C	4: 155,083,456 (GRCm39)	E393G	probably damaging	Het
Ptprg	T	A	14: 12,154,355 (GRCm38)	M692K	probably benign	Het
Rassf8	G	A	6: 145,760,908 (GRCm39)	R78H	probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rnf213	A	G	11: 119,341,027 (GRCm39)	Q3556R	probably damaging	Het
Rpa2	T	C	4: 132,496,099 (GRCm39)		probably null	Het
Rpe	T	G	1: 66,755,139 (GRCm39)	F174V	possibly damaging	Het
Sbf2	T	C	7: 110,159,502 (GRCm39)	D36G	probably damaging	Het
Scn2a	T	A	2: 65,582,423 (GRCm39)	Y1590*	probably null	Het
Slc24a4	T	C	12: 102,189,018 (GRCm39)	V151A	probably damaging	Het
Slc30a8	A	T	15: 52,159,330 (GRCm39)	M17L	probably benign	Het
Slit3	T	C	11: 35,579,506 (GRCm39)	Y1228H	probably damaging	Het
Smad4	G	A	18: 73,795,815 (GRCm39)	T193M	probably benign	Het
Smtn	T	A	11: 3,480,045 (GRCm39)	H392L	probably benign	Het
St8sia3	A	G	18: 64,402,745 (GRCm39)	D128G	probably damaging	Het
Sucla2	A	T	14: 73,830,108 (GRCm39)	M382L	possibly damaging	Het
Tbx5	A	G	5: 119,974,988 (GRCm39)	T4A	probably benign	Het
Tdrd5	T	C	1: 156,104,143 (GRCm39)	R528G	probably damaging	Het
Tex44	T	C	1: 86,354,811 (GRCm39)	L240P	probably benign	Het
Tns4	A	T	11: 98,970,904 (GRCm39)		probably null	Het
Trappc10	A	T	10: 78,039,758 (GRCm39)	V731E	possibly damaging	Het
Ttf1	A	G	2: 28,961,357 (GRCm39)	K582E	probably damaging	Het
Ttll6	A	G	11: 96,038,358 (GRCm39)	E402G	probably damaging	Het
Ttn	A	T	2: 76,720,436 (GRCm39)		probably null	Het
Ugt8a	T	C	3: 125,669,195 (GRCm39)	D303G	probably damaging	Het
Ulk1	G	T	5: 110,940,302 (GRCm39)	A373D	probably benign	Het
Vmn2r13	A	G	5: 109,306,058 (GRCm39)	S507P	probably benign	Het
Vmn2r19	T	A	6: 123,293,033 (GRCm39)	D358E	possibly damaging	Het
Vmn2r88	T	C	14: 51,651,264 (GRCm39)	S201P	probably benign	Het
Zfp36l2	A	G	17: 84,494,403 (GRCm39)	F78S	probably damaging	Het
Zfp454	A	C	11: 50,764,822 (GRCm39)	S203R	probably benign	Het
Zfp616	C	A	11: 73,976,229 (GRCm39)	Q833K	probably benign	Het
Znhit2	A	G	19: 6,112,091 (GRCm39)	T279A	probably benign	Het
Zswim3	T	A	2: 164,661,913 (GRCm39)	I131N	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
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
R8872:Ttf2	UTSW	3	100,870,644 (GRCm39)	missense	probably benign	0.04
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'- CCCAAAGCTTTATGACATTCTGAG -3'
(R):5'- ACTGTTTAAGTAGCTGGACTCAGG -3'

Sequencing Primer
(F):5'- AAGTGTATCTTGTCATGGAACTCATG -3'
(R):5'- GGTCCGCTTCTTCCCCAGAG -3'

Posted On

2014-09-17