Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00916:Ttf1'

26868

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 #

IGL00916

Quality Score

Status

Chromosome

Chromosomal Location

29060262-29087656 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 29070042 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 554 (N554S)

Ref Sequence

ENSEMBL: ENSMUSP00000097809 (fasta)

Gene Model

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

AlphaFold

Q62187

Predicted Effect

probably benign
Transcript: ENSMUST00000100237
AA Change: N554S

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000097809
Gene: ENSMUSG00000026803
AA Change: N554S

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	T	A	6: 23,075,852	Q762L	probably benign	Het
Aldh1a1	T	C	19: 20,619,997	V114A	probably benign	Het
Ano4	T	C	10: 88,998,098	I459V	probably benign	Het
Atad5	C	T	11: 80,119,000	P1199S	probably damaging	Het
Bmp10	T	C	6: 87,429,160	F43S	possibly damaging	Het
Cd96	T	C	16: 46,041,312	E505G	probably benign	Het
D17Wsu92e	A	G	17: 27,767,919	Y278H	probably damaging	Het
Eapp	T	C	12: 54,692,808	T75A	possibly damaging	Het
Emilin1	T	C	5: 30,913,902	Y10H	probably damaging	Het
Ercc6	A	G	14: 32,562,655		probably benign	Het
Gucy2e	T	C	11: 69,223,097	I1089V	possibly damaging	Het
H6pd	C	A	4: 149,994,468		probably null	Het
Igsf10	A	T	3: 59,331,127	F544L	probably damaging	Het
Il23r	T	C	6: 67,473,931	Y188C	probably damaging	Het
Inpp5j	T	C	11: 3,502,389	E287G	probably damaging	Het
Lrp6	T	C	6: 134,484,289	D735G	probably damaging	Het
Mast2	A	T	4: 116,327,633	M240K	possibly damaging	Het
Mreg	T	A	1: 72,164,132	T96S	probably benign	Het
Mta2	A	T	19: 8,947,101	M220L	probably benign	Het
Mycbp2	A	G	14: 103,291,283		probably benign	Het
Naip2	T	A	13: 100,161,431	N699I	probably damaging	Het
Ncapg	T	G	5: 45,671,192	I95S	probably benign	Het
Ndufa13	A	G	8: 69,894,419		probably benign	Het
Nol10	T	A	12: 17,361,129		probably benign	Het
Parp8	T	A	13: 116,927,323	I85F	probably damaging	Het
Rgs2	T	A	1: 144,002,229	I78F	probably damaging	Het
Rpia	C	T	6: 70,775,102		probably benign	Het
Sec63	T	C	10: 42,812,457	S488P	possibly damaging	Het
Tfcp2	T	G	15: 100,520,678	H201P	probably damaging	Het
Tnfaip2	T	G	12: 111,453,549	I705R	probably damaging	Het
Ulk1	A	G	5: 110,793,011	S351P	probably damaging	Het
Zp2	T	A	7: 120,138,174	N264Y	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
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