Mutagenetix > Incidental Mutation

Incidental Mutation 'R4342:Ttf1'

324155

Institutional Source

Beutler Lab

Gene Symbol

Ttf1

Ensembl Gene

ENSMUSG00000026803

Gene Name

transcription termination factor, RNA polymerase I

Synonyms

MMRRC Submission

041100-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.946) question?

Stock #

R4342 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

29060262-29087656 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 29065476 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 284 (S284L)

Ref Sequence

ENSEMBL: ENSMUSP00000097809 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100237]

AlphaFold

Q62187

Predicted Effect

probably benign
Transcript: ENSMUST00000100237
AA Change: S284L

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000097809
Gene: ENSMUSG00000026803
AA Change: S284L

Domain	Start	End	E-Value	Type
internal_repeat_1	13	67	1.04e-14	PROSPERO
internal_repeat_1	85	142	1.04e-14	PROSPERO
low complexity region	143	153	N/A	INTRINSIC
low complexity region	171	183	N/A	INTRINSIC
low complexity region	274	293	N/A	INTRINSIC
low complexity region	350	387	N/A	INTRINSIC
low complexity region	434	447	N/A	INTRINSIC
low complexity region	451	461	N/A	INTRINSIC
Blast:SANT	508	585	8e-28	BLAST
SANT	589	636	2.37e-6	SMART
SANT	638	720	1.8e-6	SMART
low complexity region	805	819	N/A	INTRINSIC
low complexity region	842	857	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142786

Meta Mutation Damage Score

0.0650

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

99% (68/69)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	T	C	17: 45,516,495	C488R	probably benign	Het
Adamts19	A	T	18: 58,942,500	H489L	probably damaging	Het
Ahnak	T	C	19: 9,012,083	V3577A	possibly damaging	Het
Arhgap44	G	A	11: 65,012,061	R401*	probably null	Het
Cbx3-ps2	T	C	13: 65,559,688		noncoding transcript	Het
Ccdc174	T	A	6: 91,885,356	L86*	probably null	Het
Cd38	A	C	5: 43,869,089	I72L	probably benign	Het
Cers4	T	C	8: 4,521,223	L264P	probably damaging	Het
Cldn23	A	G	8: 35,825,498	S279P	probably benign	Het
Cth	T	A	3: 157,924,976	T19S	probably damaging	Het
Dnajc22	T	A	15: 99,104,464	L330*	probably null	Het
Epas1	G	A	17: 86,823,800	C336Y	probably damaging	Het
Evi5l	A	C	8: 4,183,492		probably benign	Het
Fam71b	A	G	11: 46,407,216	D449G	possibly damaging	Het
Fbxl2	A	T	9: 113,985,306	H272Q	probably benign	Het
Fgd3	C	T	13: 49,273,709		probably null	Het
Fhdc1	C	A	3: 84,444,826	V1031F	probably benign	Het
Fscn1	T	C	5: 142,972,021	Y308H	probably damaging	Het
Gm5878	G	A	6: 85,125,651	R31*	probably null	Het
Gm996	A	G	2: 25,579,108	Y264H	possibly damaging	Het
Gpatch2l	T	C	12: 86,260,679	V277A	probably benign	Het
Greb1l	T	A	18: 10,544,561	M1385K	probably benign	Het
Grin2a	A	G	16: 9,653,589	I605T	possibly damaging	Het
Hoxc11	C	T	15: 102,954,671	S49F	probably damaging	Het
Igf2r	C	T	17: 12,709,511	E982K	possibly damaging	Het
Ighv10-3	A	T	12: 114,523,504	M99K	possibly damaging	Het
Itgb4	A	T	11: 115,988,729	T614S	probably benign	Het
Kcnv1	G	A	15: 45,114,444	T66M	probably damaging	Het
Mast4	A	G	13: 102,774,248	V461A	probably damaging	Het
Mcts2	G	A	2: 152,687,664	V132M	probably damaging	Het
Mical3	C	A	6: 120,934,838	E1083*	probably null	Het
Nbeal2	A	G	9: 110,631,793		probably benign	Het
Nek4	T	C	14: 30,953,906	V66A	probably damaging	Het
Nfasc	A	G	1: 132,631,705	F229S	probably damaging	Het
Nhsl1	T	C	10: 18,526,689	F1221S	probably damaging	Het
Nr1d1	T	G	11: 98,771,814	K118Q	probably damaging	Het
Ntm	T	C	9: 29,109,431	E164G	probably damaging	Het
Olfr576	A	G	7: 102,966,024	N308S	probably benign	Het
Parp1	G	T	1: 180,587,329	A411S	probably benign	Het
Pds5b	A	G	5: 150,800,854	T1301A	probably benign	Het
Pkhd1	A	G	1: 20,058,617	V3954A	probably benign	Het
Pkp4	A	T	2: 59,350,608	K739I	probably damaging	Het
Pla2g4e	T	C	2: 120,186,446		probably benign	Het
Plod3	G	C	5: 136,988,146	A50P	probably benign	Het
Ralgds	T	C	2: 28,552,095	L96P	probably damaging	Het
Rbm6	A	T	9: 107,847,247		probably benign	Het
Scp2d1	T	C	2: 144,824,167	L142P	probably damaging	Het
Setd5	AT	ATT	6: 113,111,320		probably benign	Het
Sgf29	G	A	7: 126,671,777	C143Y	probably damaging	Het
Slc22a12	A	G	19: 6,541,099	I156T	probably benign	Het
Stambpl1	A	G	19: 34,234,046	Q169R	probably benign	Het
Tex2	T	C	11: 106,567,006		probably benign	Het
Trip11	A	T	12: 101,884,316	I878N	probably damaging	Het
Ttn	A	T	2: 76,811,243	L5176Q	possibly damaging	Het
Ugt2b5	A	T	5: 87,139,723	V195E	probably damaging	Het
Vmn1r14	T	A	6: 57,233,823	Y85N	probably benign	Het
Wdyhv1	T	C	15: 58,152,714	S120P	probably benign	Het
Zfp131	C	T	13: 119,776,018	R268H	probably damaging	Het

Other mutations in Ttf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00585:Ttf1	APN	2	29073883	splice site	probably benign
IGL00916:Ttf1	APN	2	29070042	missense	probably benign	0.05
IGL02148:Ttf1	APN	2	29079426	missense	probably benign	0.17
IGL02631:Ttf1	APN	2	29069900	missense	probably damaging	0.98
IGL02658:Ttf1	APN	2	29074011	missense	probably damaging	1.00
IGL03057:Ttf1	APN	2	29071345	missense	probably damaging	0.98
R0026:Ttf1	UTSW	2	29071349	missense	possibly damaging	0.95
R0047:Ttf1	UTSW	2	29084655	missense	probably damaging	1.00
R0047:Ttf1	UTSW	2	29084655	missense	probably damaging	1.00
R0427:Ttf1	UTSW	2	29065042	missense	probably benign	0.00
R0466:Ttf1	UTSW	2	29065407	missense	possibly damaging	0.79
R0834:Ttf1	UTSW	2	29073950	nonsense	probably null
R1548:Ttf1	UTSW	2	29065138	missense	probably damaging	0.96
R1672:Ttf1	UTSW	2	29067152	missense	probably damaging	0.98
R1696:Ttf1	UTSW	2	29070002	missense	probably damaging	1.00
R1819:Ttf1	UTSW	2	29074784	missense	possibly damaging	0.60
R2000:Ttf1	UTSW	2	29065185	missense	possibly damaging	0.79
R2126:Ttf1	UTSW	2	29071345	missense	probably damaging	0.98
R2426:Ttf1	UTSW	2	29067185	missense	probably damaging	0.98
R2967:Ttf1	UTSW	2	29065383	missense	possibly damaging	0.56
R3499:Ttf1	UTSW	2	29065487	missense	possibly damaging	0.92
R3963:Ttf1	UTSW	2	29064804	missense	possibly damaging	0.68
R4627:Ttf1	UTSW	2	29065160	missense	possibly damaging	0.72
R4676:Ttf1	UTSW	2	29074594	missense	probably damaging	0.96
R4907:Ttf1	UTSW	2	29064656	missense	possibly damaging	0.72
R4909:Ttf1	UTSW	2	29064656	missense	possibly damaging	0.72
R4926:Ttf1	UTSW	2	29064656	missense	possibly damaging	0.72
R4927:Ttf1	UTSW	2	29064656	missense	possibly damaging	0.72
R5746:Ttf1	UTSW	2	29065742	missense	probably damaging	0.96
R5948:Ttf1	UTSW	2	29073920	missense	possibly damaging	0.50
R6911:Ttf1	UTSW	2	29064851	missense	probably benign	0.41
R7909:Ttf1	UTSW	2	29065459	missense	probably benign	0.00
R8141:Ttf1	UTSW	2	29067226	nonsense	probably null
R8264:Ttf1	UTSW	2	29064677	missense	possibly damaging	0.91
R8863:Ttf1	UTSW	2	29079480	critical splice donor site	probably null
R9094:Ttf1	UTSW	2	29067068	missense	probably benign	0.15
R9281:Ttf1	UTSW	2	29065890	missense	probably benign	0.01
R9318:Ttf1	UTSW	2	29074654	missense	possibly damaging	0.47
R9440:Ttf1	UTSW	2	29065697	missense	probably benign	0.41
R9483:Ttf1	UTSW	2	29079480	critical splice donor site	probably null
X0066:Ttf1	UTSW	2	29074775	missense	probably benign	0.05
Z1176:Ttf1	UTSW	2	29065812	missense	probably damaging	1.00
Z1176:Ttf1	UTSW	2	29071337	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGAGAACCTGCTAGAGACTTC -3'
(R):5'- CCATGGTGTGTGCTATCAAGTC -3'

Sequencing Primer
(F):5'- GACTTCTAGAAAGGATGTGGATATTG -3'
(R):5'- GCTATCAAGTCTCTCAGAGATGGTC -3'

Posted On

2015-06-24