Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00585:Ttf1'

26795

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ttf1

Ensembl Gene

ENSMUSG00000026803

Gene Name

transcription termination factor, RNA polymerase I

Synonyms

Accession Numbers

Essential gene?

Probably essential (E-score: 0.944) question?

Stock #

IGL00585

Quality Score

Status

Chromosome

Chromosomal Location

29060262-29087656 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 29073883 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000097809 (fasta)

Gene Model

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

AlphaFold

Q62187

Predicted Effect

probably benign
Transcript: ENSMUST00000100237

SMART Domains

Protein: ENSMUSP00000097809
Gene: ENSMUSG00000026803

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: ENSMUST00000122866

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142786

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	T	A	17: 24,300,320	I664F	probably damaging	Het
Abcg4	A	T	9: 44,281,623	M142K	probably benign	Het
Afdn	A	G	17: 13,884,628	T1198A	probably damaging	Het
Angptl2	T	C	2: 33,246,227	S475P	probably damaging	Het
Ap3s2	T	C	7: 79,916,076	E34G	probably benign	Het
C1qtnf9	T	C	14: 60,779,993	F324S	probably damaging	Het
Cacng7	A	G	7: 3,366,031	Y170C	probably damaging	Het
Ceacam18	G	A	7: 43,637,011	V103M	possibly damaging	Het
Chrnb1	G	A	11: 69,793,916	P144S	probably damaging	Het
Chuk	T	C	19: 44,078,312	H652R	probably damaging	Het
Ckap5	C	T	2: 91,619,825	L1948F	probably damaging	Het
Clstn1	A	T	4: 149,638,312	H469L	probably benign	Het
Csf2rb2	C	T	15: 78,284,847	G594S	possibly damaging	Het
Ctsq	A	T	13: 61,037,127	D248E	probably benign	Het
Ep400	A	T	5: 110,755,905	I276K	possibly damaging	Het
Gbf1	G	A	19: 46,284,249		probably null	Het
Gldn	T	A	9: 54,338,464	I433N	probably damaging	Het
Gm136	T	A	4: 34,752,322	E69V	probably damaging	Het
Gm28177	T	C	1: 52,082,579		probably null	Het
Gtf2h2	A	G	13: 100,480,998		probably benign	Het
Ints12	T	C	3: 133,100,809		probably null	Het
Ltbp4	T	C	7: 27,326,733	D615G	probably damaging	Het
Mgme1	C	T	2: 144,271,989	P4S	probably benign	Het
Nae1	A	G	8: 104,526,278		probably null	Het
Nup133	G	A	8: 123,909,994	A956V	probably damaging	Het
Oacyl	T	A	18: 65,749,640	M529K	possibly damaging	Het
Osbpl1a	T	A	18: 12,757,626	E519V	possibly damaging	Het
Pacs1	A	T	19: 5,153,698	V333E	probably damaging	Het
Pik3c3	T	G	18: 30,303,078		probably benign	Het
Polh	C	T	17: 46,172,243		probably benign	Het
Ppp6r3	A	G	19: 3,490,826	C431R	probably damaging	Het
Pprc1	T	C	19: 46,062,648	S206P	possibly damaging	Het
Rab20	A	G	8: 11,454,212	Y163H	probably benign	Het
Sde2	T	A	1: 180,855,818	C46S	possibly damaging	Het
Serpinb1c	T	C	13: 32,883,975	K213E	probably damaging	Het
Spata20	T	G	11: 94,479,117	L784F	probably damaging	Het
Tnnt1	A	C	7: 4,507,550	M224R	possibly damaging	Het
Trank1	T	C	9: 111,349,290	F349L	possibly damaging	Het
Usp54	T	A	14: 20,573,837	S651C	probably damaging	Het
Vps45	A	G	3: 96,000,066	*571R	probably null	Het
Yod1	G	A	1: 130,719,133	G249E	probably damaging	Het
Ythdc2	A	G	18: 44,864,361	Y340C	probably damaging	Het
Zfp366	G	A	13: 99,246,572		probably benign	Het
Zfp648	T	A	1: 154,204,189	D31E	possibly damaging	Het

Other mutations in Ttf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2013-04-17