Mutagenetix > Incidental Mutation

Incidental Mutation 'R8264:Ttf1'

639713

Institutional Source

Beutler Lab

Gene Symbol

Ttf1

Ensembl Gene

ENSMUSG00000026803

Gene Name

transcription termination factor, RNA polymerase I

Synonyms

MMRRC Submission

067689-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.955) question?

Stock #

R8264 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

29060262-29087656 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 29064677 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 18 (K18E)

Ref Sequence

ENSEMBL: ENSMUSP00000097809 (fasta)

Gene Model

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

AlphaFold

Q62187

Predicted Effect

possibly damaging
Transcript: ENSMUST00000100237
AA Change: K18E

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000097809
Gene: ENSMUSG00000026803
AA Change: K18E

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

98% (51/52)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	A	3: 138,067,782	C911S	probably damaging	Het
Abcc4	T	A	14: 118,594,842	N792I	possibly damaging	Het
Acacb	A	T	5: 114,207,366	H960L	probably benign	Het
Aox1	A	G	1: 58,053,714	T162A	possibly damaging	Het
Cacna1g	T	C	11: 94,473,566	S18G	probably benign	Het
Chfr	T	A	5: 110,152,434	I348N	possibly damaging	Het
Cntln	G	A	4: 85,098,411	R12Q	probably damaging	Het
Cyp2c40	A	G	19: 39,807,527	S136P	possibly damaging	Het
Dnah14	T	A	1: 181,744,792	M2896K	probably damaging	Het
Elp6	A	G	9: 110,319,687	T215A	probably damaging	Het
Esyt2	A	C	12: 116,365,920	Q699H	probably benign	Het
Fbxo25	A	G	8: 13,929,393	T204A	possibly damaging	Het
Fhdc1	A	G	3: 84,455,032	S294P	probably damaging	Het
G530012D18Rik	C	G	1: 85,577,214	D113E	unknown	Het
Galnt10	A	G	11: 57,782,206	I463V	probably benign	Het
Glce	A	G	9: 62,060,430	F480L	probably benign	Het
H2-Aa	A	G	17: 34,287,735	V11A	probably benign	Het
Hsd17b4	A	G	18: 50,146,526	T191A	possibly damaging	Het
Itpr3	G	T	17: 27,104,112		silent	Het
Izumo4	G	T	10: 80,702,738	G8V		Het
Klk1b5	T	A	7: 44,220,030	L178H	probably damaging	Het
Lama2	T	C	10: 27,467,222	N85D	probably benign	Het
Liph	A	C	16: 21,983,971	I116R	possibly damaging	Het
Lpar5	T	A	6: 125,081,502	V62D	probably damaging	Het
Map3k19	T	A	1: 127,823,791	I303F		Het
Mymk	A	G	2: 27,067,856		probably benign	Het
Myo10	G	A	15: 25,800,109	V1424M	probably damaging	Het
Myof	T	G	19: 37,921,433	Q1528P	probably damaging	Het
Ncapd3	T	C	9: 27,094,742		probably benign	Het
Nup214	T	A	2: 31,994,726	Y500N	possibly damaging	Het
Olfr1040	T	C	2: 86,146,194	D180G	probably damaging	Het
Papd4	C	T	13: 93,175,569	G208S	probably damaging	Het
Pappa2	T	C	1: 158,854,973	Y835C	probably damaging	Het
Pcdh18	T	C	3: 49,756,581	E95G	probably damaging	Het
Phf3	A	T	1: 30,831,057	N303K	possibly damaging	Het
Pnn	C	T	12: 59,072,577	H649Y	unknown	Het
Rab11fip1	G	A	8: 27,152,480	Q764*	probably null	Het
Ralgapa2	A	T	2: 146,333,450	M1762K	possibly damaging	Het
Rif1	G	A	2: 52,090,278	A496T	noncoding transcript	Het
Rnase13	A	T	14: 51,922,457	V75D	probably damaging	Het
Sema3c	G	A	5: 17,676,539		probably benign	Het
Sema4c	C	G	1: 36,552,885	G266R	probably damaging	Het
Slfn5	A	T	11: 82,956,550	D87V	probably damaging	Het
Smpd3	T	C	8: 106,264,658	Y421C	probably damaging	Het
Snrnp40	T	C	4: 130,378,074	V188A	probably benign	Het
Srms	A	G	2: 181,212,550	Y75H	probably benign	Het
Tex15	T	C	8: 33,582,362	S2646P	probably benign	Het
Togaram1	A	G	12: 64,995,556	I1130V	probably benign	Het
Unc5b	G	T	10: 60,768,334	T827K	probably benign	Het
Zfhx2	T	A	14: 55,065,512	T1672S	possibly 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
R4342:Ttf1	UTSW	2	29065476	missense	probably benign	0.01
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
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'- GTGGATCTCACTCAACTTCCTG -3'
(R):5'- AGGCCACTCACTCTCTAAGG -3'

Sequencing Primer
(F):5'- CTGTGTATTTATGTTCATGACTCCAG -3'
(R):5'- CTCTAAGGTCTCCTGGGCTG -3'

Posted On

2020-07-28