Mutagenetix > Incidental Mutation

Incidental Mutation 'R9483:Ttf1'

716336

Institutional Source

Beutler Lab

Gene Symbol

Ttf1

Ensembl Gene

ENSMUSG00000026803

Gene Name

transcription termination factor, RNA polymerase I

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.936) question?

Stock #

R9483 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

28950274-28977668 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 28969492 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000097809 (fasta)

Gene Model

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

AlphaFold

Q62187

Predicted Effect

probably null
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

probably null
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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	A	T	5: 113,339,010 (GRCm39)	M334K	probably benign	Het
Abca1	A	T	4: 53,060,351 (GRCm39)	I1525N	probably benign	Het
Abca4	A	T	3: 121,879,275 (GRCm39)	I398F		Het
Acbd3	A	G	1: 180,572,721 (GRCm39)	D327G	probably benign	Het
Acsm3	A	G	7: 119,383,166 (GRCm39)	T544A	probably damaging	Het
Atp11a	C	T	8: 12,901,087 (GRCm39)	T972M	probably damaging	Het
Cbfb	C	T	8: 105,929,123 (GRCm39)	R147*	probably null	Het
Ccdc17	G	T	4: 116,454,144 (GRCm39)	R54L	probably benign	Het
Cracdl	T	G	1: 37,670,496 (GRCm39)	E148A	probably damaging	Het
Cuedc2	G	T	19: 46,319,399 (GRCm39)	A223E	probably benign	Het
Cul5	T	C	9: 53,532,474 (GRCm39)	I787V	probably benign	Het
D430041D05Rik	T	A	2: 104,087,563 (GRCm39)	H471L	probably benign	Het
Ddx39a	T	C	8: 84,448,916 (GRCm39)	Y264H	probably benign	Het
Dlgap3	C	A	4: 127,127,665 (GRCm39)	R778S	probably damaging	Het
Esrrg	T	C	1: 187,930,848 (GRCm39)	V313A	probably damaging	Het
Fam124a	T	C	14: 62,844,100 (GRCm39)	I536T	probably damaging	Het
Fbxo21	T	C	5: 118,127,272 (GRCm39)	F275L	possibly damaging	Het
Gabrg1	C	A	5: 70,999,558 (GRCm39)	G2V	possibly damaging	Het
Gcc1	G	T	6: 28,418,089 (GRCm39)	A748D	probably damaging	Het
Gjb6	T	C	14: 57,361,511 (GRCm39)	D250G	probably benign	Het
Gm44501	A	T	17: 40,889,872 (GRCm39)	K129*	probably null	Het
Hmcn2	T	G	2: 31,320,375 (GRCm39)	L3952R		Het
Hpd	A	G	5: 123,312,535 (GRCm39)	I278T	probably damaging	Het
Igsf3	T	A	3: 101,346,904 (GRCm39)	F613Y	probably damaging	Het
Igsf3	T	C	3: 101,346,817 (GRCm39)	F584S	probably damaging	Het
Ik	A	G	18: 36,886,635 (GRCm39)	D369G	probably benign	Het
Ikbke	A	G	1: 131,198,719 (GRCm39)	L365P	probably damaging	Het
Il22ra2	A	T	10: 19,508,542 (GRCm39)	Q190L	possibly damaging	Het
Itga6	T	C	2: 71,679,834 (GRCm39)	V1033A	probably benign	Het
Kif18a	T	C	2: 109,120,032 (GRCm39)	Y112H	probably damaging	Het
Krt75	T	C	15: 101,482,238 (GRCm39)	H10R	probably benign	Het
L3mbtl1	T	A	2: 162,790,734 (GRCm39)	L93H	probably benign	Het
Lrfn1	G	A	7: 28,158,183 (GRCm39)	C34Y	probably damaging	Het
Lrrc47	A	T	4: 154,101,920 (GRCm39)	I396F	probably damaging	Het
Mgat3	T	A	15: 80,095,641 (GRCm39)	V156E	probably benign	Het
Mtus2	A	G	5: 148,232,300 (GRCm39)	D1120G	possibly damaging	Het
Muc5ac	G	T	7: 141,365,465 (GRCm39)	E2700*	probably null	Het
Nxpe5	A	T	5: 138,228,591 (GRCm39)		probably benign	Het
Or51v15-ps1	T	C	7: 103,278,931 (GRCm39)	T79A	probably damaging	Het
Or5aq6	A	T	2: 86,923,390 (GRCm39)	M117K	possibly damaging	Het
Pcdhga4	T	A	18: 37,819,746 (GRCm39)	S432T	possibly damaging	Het
Pdk4	T	A	6: 5,486,716 (GRCm39)	M353L	probably benign	Het
Ppp1r13b	T	A	12: 111,800,210 (GRCm39)	K645N	probably benign	Het
Ppt1	A	T	4: 122,751,367 (GRCm39)	D288V	possibly damaging	Het
Prkcb	A	G	7: 122,181,663 (GRCm39)	Y417C	probably damaging	Het
Prss22	A	G	17: 24,215,721 (GRCm39)	I67T	probably damaging	Het
Rab29	T	C	1: 131,795,508 (GRCm39)	V40A	possibly damaging	Het
Rae1	T	C	2: 172,849,941 (GRCm39)		probably null	Het
Rasa3	C	T	8: 13,630,033 (GRCm39)		probably null	Het
Rasgrp3	A	G	17: 75,807,717 (GRCm39)	D258G	probably benign	Het
Rcc1	T	A	4: 132,062,808 (GRCm39)	T208S	probably benign	Het
Rgs3	C	A	4: 62,575,354 (GRCm39)	Y580*	probably null	Het
Rpe65	C	T	3: 159,328,318 (GRCm39)	P405S	probably damaging	Het
Rsf1	GGCGGC	GGCGGCGGCAGCGGC	7: 97,229,137 (GRCm39)		probably benign	Het
Rsph4a	A	G	10: 33,790,418 (GRCm39)	E669G	probably damaging	Het
Rusc1	A	T	3: 88,994,113 (GRCm39)	V964E	probably benign	Het
Rusc2	A	G	4: 43,415,897 (GRCm39)	N401S	probably damaging	Het
Slc10a1	G	T	12: 81,002,864 (GRCm39)	T258K	probably damaging	Het
Slc5a9	A	G	4: 111,747,418 (GRCm39)	L323P	probably damaging	Het
Slc6a17	T	A	3: 107,378,772 (GRCm39)	I637F	possibly damaging	Het
Slc8a2	A	G	7: 15,886,780 (GRCm39)	E641G	possibly damaging	Het
Sptbn2	G	T	19: 4,789,974 (GRCm39)	A1321S	probably damaging	Het
Ssh2	G	T	11: 77,283,976 (GRCm39)	A77S	possibly damaging	Het
St13	G	T	15: 81,250,587 (GRCm39)	N316K	probably damaging	Het
Taf10	A	G	7: 105,393,062 (GRCm39)	M121T	probably benign	Het
Tcta	T	C	9: 108,182,942 (GRCm39)	T68A	probably damaging	Het
Timd2	A	T	11: 46,577,889 (GRCm39)	Y81N	probably damaging	Het
Tln2	T	C	9: 67,299,769 (GRCm39)	E161G	probably damaging	Het
Tmed10	T	C	12: 85,397,621 (GRCm39)	I123V	probably benign	Het
Tubg1	A	G	11: 101,016,886 (GRCm39)	D396G	probably damaging	Het
Uhmk1	A	G	1: 170,034,913 (GRCm39)		probably null	Het
Unc13a	C	T	8: 72,103,221 (GRCm39)	A922T	probably benign	Het
Usp24	T	A	4: 106,219,379 (GRCm39)	V525E	probably damaging	Het
Usp28	C	A	9: 48,947,037 (GRCm39)	Q823K	probably damaging	Het
Vldlr	A	T	19: 27,224,031 (GRCm39)	I764F	probably benign	Het
Vmn2r88	T	C	14: 51,648,641 (GRCm39)	Y62H		Het
Zfp423	T	A	8: 88,507,725 (GRCm39)	N873I	possibly damaging	Het

Other mutations in Ttf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00585:Ttf1	APN	2	28,963,895 (GRCm39)	splice site	probably benign
IGL00916:Ttf1	APN	2	28,960,054 (GRCm39)	missense	probably benign	0.05
IGL02148:Ttf1	APN	2	28,969,438 (GRCm39)	missense	probably benign	0.17
IGL02631:Ttf1	APN	2	28,959,912 (GRCm39)	missense	probably damaging	0.98
IGL02658:Ttf1	APN	2	28,964,023 (GRCm39)	missense	probably damaging	1.00
IGL03057:Ttf1	APN	2	28,961,357 (GRCm39)	missense	probably damaging	0.98
R0026:Ttf1	UTSW	2	28,961,361 (GRCm39)	missense	possibly damaging	0.95
R0047:Ttf1	UTSW	2	28,974,667 (GRCm39)	missense	probably damaging	1.00
R0047:Ttf1	UTSW	2	28,974,667 (GRCm39)	missense	probably damaging	1.00
R0427:Ttf1	UTSW	2	28,955,054 (GRCm39)	missense	probably benign	0.00
R0466:Ttf1	UTSW	2	28,955,419 (GRCm39)	missense	possibly damaging	0.79
R0834:Ttf1	UTSW	2	28,963,962 (GRCm39)	nonsense	probably null
R1548:Ttf1	UTSW	2	28,955,150 (GRCm39)	missense	probably damaging	0.96
R1672:Ttf1	UTSW	2	28,957,164 (GRCm39)	missense	probably damaging	0.98
R1696:Ttf1	UTSW	2	28,960,014 (GRCm39)	missense	probably damaging	1.00
R1819:Ttf1	UTSW	2	28,964,796 (GRCm39)	missense	possibly damaging	0.60
R2000:Ttf1	UTSW	2	28,955,197 (GRCm39)	missense	possibly damaging	0.79
R2126:Ttf1	UTSW	2	28,961,357 (GRCm39)	missense	probably damaging	0.98
R2426:Ttf1	UTSW	2	28,957,197 (GRCm39)	missense	probably damaging	0.98
R2967:Ttf1	UTSW	2	28,955,395 (GRCm39)	missense	possibly damaging	0.56
R3499:Ttf1	UTSW	2	28,955,499 (GRCm39)	missense	possibly damaging	0.92
R3963:Ttf1	UTSW	2	28,954,816 (GRCm39)	missense	possibly damaging	0.68
R4342:Ttf1	UTSW	2	28,955,488 (GRCm39)	missense	probably benign	0.01
R4627:Ttf1	UTSW	2	28,955,172 (GRCm39)	missense	possibly damaging	0.72
R4676:Ttf1	UTSW	2	28,964,606 (GRCm39)	missense	probably damaging	0.96
R4907:Ttf1	UTSW	2	28,954,668 (GRCm39)	missense	possibly damaging	0.72
R4909:Ttf1	UTSW	2	28,954,668 (GRCm39)	missense	possibly damaging	0.72
R4926:Ttf1	UTSW	2	28,954,668 (GRCm39)	missense	possibly damaging	0.72
R4927:Ttf1	UTSW	2	28,954,668 (GRCm39)	missense	possibly damaging	0.72
R5746:Ttf1	UTSW	2	28,955,754 (GRCm39)	missense	probably damaging	0.96
R5948:Ttf1	UTSW	2	28,963,932 (GRCm39)	missense	possibly damaging	0.50
R6911:Ttf1	UTSW	2	28,954,863 (GRCm39)	missense	probably benign	0.41
R7909:Ttf1	UTSW	2	28,955,471 (GRCm39)	missense	probably benign	0.00
R8141:Ttf1	UTSW	2	28,957,238 (GRCm39)	nonsense	probably null
R8264:Ttf1	UTSW	2	28,954,689 (GRCm39)	missense	possibly damaging	0.91
R8863:Ttf1	UTSW	2	28,969,492 (GRCm39)	critical splice donor site	probably null
R9094:Ttf1	UTSW	2	28,957,080 (GRCm39)	missense	probably benign	0.15
R9281:Ttf1	UTSW	2	28,955,902 (GRCm39)	missense	probably benign	0.01
R9318:Ttf1	UTSW	2	28,964,666 (GRCm39)	missense	possibly damaging	0.47
R9440:Ttf1	UTSW	2	28,955,709 (GRCm39)	missense	probably benign	0.41
X0066:Ttf1	UTSW	2	28,964,787 (GRCm39)	missense	probably benign	0.05
Z1176:Ttf1	UTSW	2	28,961,349 (GRCm39)	missense	probably damaging	1.00
Z1176:Ttf1	UTSW	2	28,955,824 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCCAGTGAATGAGAGCAATTTATG -3'
(R):5'- AGGCGACAAGTAACTTCTCTTTC -3'

Sequencing Primer
(F):5'- TGCTGGTAACCTGAACTCAG -3'
(R):5'- CTCAGCCTCATTCAGAGTTGG -3'

Posted On

2022-07-18