Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02658:Ttf1'

302453

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

Is this an essential gene?

Probably essential (E-score: 0.936) question?

Stock #

IGL02658

Quality Score

Status

Chromosome

Chromosomal Location

29060262-29087656 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 29074011 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 633 (I633T)

Ref Sequence

ENSEMBL: ENSMUSP00000097809 (fasta)

Gene Model

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

AlphaFold

Q62187

Predicted Effect

probably damaging
Transcript: ENSMUST00000100237
AA Change: I633T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000097809
Gene: ENSMUSG00000026803
AA Change: I633T

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	A	11: 109,952,560	Y946F	probably benign	Het
Abcb4	T	G	5: 8,934,240	W657G	probably benign	Het
Adcy1	T	C	11: 7,138,279		probably benign	Het
Arap3	A	G	18: 37,990,994	V351A	probably benign	Het
Bpifb9b	A	C	2: 154,311,281	Y89S	probably benign	Het
Carns1	C	T	19: 4,173,084	C47Y	probably benign	Het
Chd5	C	T	4: 152,360,593	H344Y	probably damaging	Het
Ctnna2	T	C	6: 76,980,824	T481A	probably benign	Het
Cyth1	T	A	11: 118,182,246	D264V	probably damaging	Het
Dph1	C	A	11: 75,180,635	L311F	probably benign	Het
Eif3l	A	G	15: 79,076,942	D65G	probably damaging	Het
Gtf2a1l	T	A	17: 88,668,718	F3Y	probably benign	Het
Hcn4	A	T	9: 58,859,465	T770S	unknown	Het
Hydin	A	T	8: 110,413,276	I726F	possibly damaging	Het
Klf2	A	G	8: 72,319,096	I7V	probably benign	Het
Ltn1	A	T	16: 87,415,774	L633H	probably damaging	Het
Ncoa3	A	G	2: 166,051,393	D206G	probably benign	Het
Nlrp4a	T	G	7: 26,449,713	D248E	probably benign	Het
Nyap1	A	G	5: 137,735,484	I429T	probably damaging	Het
Olfr1370	G	A	13: 21,072,812	T163I	probably damaging	Het
Olfr285	A	G	15: 98,313,356	S65P	probably damaging	Het
Olfr338	T	A	2: 36,377,060	C95S	probably damaging	Het
Olfr578	A	G	7: 102,984,330	M278T	probably benign	Het
Olfr720	T	A	14: 14,175,732	M117L	possibly damaging	Het
Pcf11	T	C	7: 92,647,046	E1322G	probably damaging	Het
Plcxd2	A	T	16: 45,972,326	F217I	probably benign	Het
Plxna4	A	T	6: 32,185,411	I1389N	probably damaging	Het
Ppp1r15a	T	C	7: 45,524,667	Y239C	probably benign	Het
Psma6	A	G	12: 55,412,211	E126G	probably benign	Het
R3hcc1l	T	A	19: 42,562,702	V46E	probably damaging	Het
Rap1gds1	G	T	3: 138,957,479	H320N	probably damaging	Het
Sdhaf3	A	G	6: 7,038,992	M105V	probably damaging	Het
Slc22a26	T	A	19: 7,788,248	N345I	probably benign	Het
Sncaip	T	C	18: 52,894,955	I412T	possibly damaging	Het
Sorcs1	A	T	19: 50,190,092	I864N	probably damaging	Het
Spag5	C	T	11: 78,321,331	Q1062*	probably null	Het
Srrm1	G	A	4: 135,325,104	P658L	unknown	Het
Szrd1	A	G	4: 141,139,746		probably benign	Het
Tns2	C	A	15: 102,107,796		probably benign	Het
Trcg1	C	A	9: 57,242,228	S361*	probably null	Het
Tshz3	T	C	7: 36,769,158	F191L	probably damaging	Het
Ttc39a	T	C	4: 109,422,893	V124A	probably damaging	Het
Zfp691	A	G	4: 119,170,507	F176S	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
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
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

2015-04-16