Mutagenetix > Incidental Mutation

Incidental Mutation 'R2087:Chtf8'

231526

Institutional Source

Beutler Lab

Gene Symbol

Chtf8

Ensembl Gene

ENSMUSG00000046691

Gene Name

CTF8, chromosome transmission fidelity factor 8

Synonyms

5830457O10Rik

MMRRC Submission

040092-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.430) question?

Stock #

R2087 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107610495-107620225 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 107612568 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 124 (R124*)

Ref Sequence

ENSEMBL: ENSMUSP00000129823 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034385] [ENSMUST00000169312] [ENSMUST00000175940] [ENSMUST00000175987] [ENSMUST00000176090] [ENSMUST00000176144] [ENSMUST00000176437] [ENSMUST00000177068] [ENSMUST00000176515]

AlphaFold

P0CG15

Predicted Effect

probably benign
Transcript: ENSMUST00000034385

SMART Domains

Protein: ENSMUSP00000034385
Gene: ENSMUSG00000031910

Domain	Start	End	E-Value	Type
transmembrane domain	15	37	N/A	INTRINSIC
transmembrane domain	42	64	N/A	INTRINSIC
Pfam:Glyco_tranf_2_3	85	361	4e-22	PFAM
Pfam:Glycos_transf_2	183	300	4.5e-7	PFAM
Pfam:Glyco_transf_21	188	360	5.7e-8	PFAM
Pfam:Chitin_synth_2	198	451	7.7e-17	PFAM
Pfam:Glyco_trans_2_3	211	538	1.7e-13	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000169312
AA Change: R124*

SMART Domains

Protein: ENSMUSP00000129823
Gene: ENSMUSG00000046691
AA Change: R124*

Domain	Start	End	E-Value	Type
low complexity region	19	30	N/A	INTRINSIC
internal_repeat_1	37	246	5.18e-7	PROSPERO
low complexity region	258	269	N/A	INTRINSIC
low complexity region	322	339	N/A	INTRINSIC
internal_repeat_1	344	520	5.18e-7	PROSPERO

Predicted Effect

probably benign
Transcript: ENSMUST00000175940

SMART Domains

Protein: ENSMUSP00000135077
Gene: ENSMUSG00000046691

Domain	Start	End	E-Value	Type
Pfam:Ctf8	3	113	4.3e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000175987

SMART Domains

Protein: ENSMUSP00000135596
Gene: ENSMUSG00000031910

Domain	Start	End	E-Value	Type
transmembrane domain	11	33	N/A	INTRINSIC
transmembrane domain	43	65	N/A	INTRINSIC
Pfam:Glyco_tranf_2_3	85	251	1.2e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000176090

SMART Domains

Protein: ENSMUSP00000135221
Gene: ENSMUSG00000046691

Domain	Start	End	E-Value	Type
Pfam:Ctf8	1	94	8e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000176144

SMART Domains

Protein: ENSMUSP00000135303
Gene: ENSMUSG00000031910

Domain	Start	End	E-Value	Type
transmembrane domain	15	37	N/A	INTRINSIC
transmembrane domain	42	64	N/A	INTRINSIC
Pfam:Glyco_tranf_2_3	85	361	4.5e-24	PFAM
Pfam:Glyco_transf_21	189	360	7e-8	PFAM
Pfam:Chitin_synth_2	197	457	3.2e-16	PFAM
Pfam:Glyco_trans_2_3	211	537	5e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000176437

SMART Domains

Protein: ENSMUSP00000134860
Gene: ENSMUSG00000046691

Domain	Start	End	E-Value	Type
low complexity region	19	30	N/A	INTRINSIC
low complexity region	109	120	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000177068

SMART Domains

Protein: ENSMUSP00000135029
Gene: ENSMUSG00000046691

Domain	Start	End	E-Value	Type
Pfam:Ctf8	3	113	4.3e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000176515

SMART Domains

Protein: ENSMUSP00000135688
Gene: ENSMUSG00000046691

Domain	Start	End	E-Value	Type
Pfam:Ctf8	1	94	8e-24	PFAM

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

95% (57/60)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a short protein that forms part of the Ctf18 replication factor C (RFC) complex that occurs in both yeast and mammals. The heteroheptameric RFC complex plays a role in sister chromatid cohesion and may load the replication clamp PCNA (proliferating cell nuclear antigen) onto DNA during DNA replication and repair. This gene is ubiquitously expressed and has been shown to have reduced expression in renal and prostate tumors. Alternatively spliced transcript variants have been described. This gene has a pseudogene on chromosome X. [provided by RefSeq, Jan 2010]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700021P04Rik	T	A	19: 24,042,364 (GRCm39)		noncoding transcript	Het
Adamts8	G	A	9: 30,873,408 (GRCm39)	R871Q	probably damaging	Het
Ank1	T	C	8: 23,583,827 (GRCm39)	L310S	probably damaging	Het
Atp2a3	A	G	11: 72,871,274 (GRCm39)	T592A	probably damaging	Het
Bpifb6	A	G	2: 153,747,998 (GRCm39)	D219G	possibly damaging	Het
Catsper4	T	C	4: 133,953,916 (GRCm39)	N81S	probably damaging	Het
Ccdc14	T	C	16: 34,516,015 (GRCm39)		probably null	Het
Ces1c	A	C	8: 93,834,230 (GRCm39)	N353K	probably benign	Het
Chrna6	T	A	8: 27,897,155 (GRCm39)	M241L	probably benign	Het
Cpt1b	A	G	15: 89,306,411 (GRCm39)	V296A	probably benign	Het
Cryl1	G	A	14: 57,513,402 (GRCm39)	S273L	possibly damaging	Het
Ctps1	T	C	4: 120,420,012 (GRCm39)	D134G	probably benign	Het
Cyp4f18	T	C	8: 72,754,832 (GRCm39)	M138V	probably benign	Het
Dnajb12	A	G	10: 59,726,667 (GRCm39)	K107R	possibly damaging	Het
Epha1	C	T	6: 42,340,502 (GRCm39)	D590N	probably benign	Het
Fndc3b	A	G	3: 27,505,703 (GRCm39)	V855A	probably benign	Het
Ganc	A	G	2: 120,287,738 (GRCm39)	Y822C	probably damaging	Het
Hook2	A	G	8: 85,729,320 (GRCm39)	D622G	probably damaging	Het
Kcnj8	T	A	6: 142,511,422 (GRCm39)	N395I	probably benign	Het
Kdm4b	T	C	17: 56,696,564 (GRCm39)	S427P	possibly damaging	Het
Krt12	A	G	11: 99,309,459 (GRCm39)	F267S	probably damaging	Het
Lrrn2	T	G	1: 132,865,489 (GRCm39)	F185V	probably damaging	Het
Mecom	A	G	3: 30,006,963 (GRCm39)	S764P	probably benign	Het
Mfsd14b	C	G	13: 65,215,796 (GRCm39)	G386R	probably damaging	Het
Mrm2	A	G	5: 140,314,155 (GRCm39)	S227P	probably damaging	Het
Mug1	A	G	6: 121,833,250 (GRCm39)	N285S	probably benign	Het
Nalcn	T	C	14: 123,518,557 (GRCm39)	T1661A	probably benign	Het
Ncoa6	G	A	2: 155,248,079 (GRCm39)	R1742*	probably null	Het
Nln	T	A	13: 104,173,877 (GRCm39)	H548L	probably damaging	Het
Nrros	C	T	16: 31,962,975 (GRCm39)	W311*	probably null	Het
Or2r3	A	T	6: 42,448,985 (GRCm39)	N42K	probably damaging	Het
Or56b34	T	A	7: 104,937,393 (GRCm39)	I31N	probably benign	Het
Pgm5	T	C	19: 24,710,927 (GRCm39)	Y425C	probably damaging	Het
Pld2	A	G	11: 70,433,786 (GRCm39)	D242G	probably damaging	Het
Plekhm1	A	G	11: 103,287,851 (GRCm39)		probably null	Het
Ptdss1	T	C	13: 67,124,881 (GRCm39)		probably benign	Het
Pyroxd2	G	T	19: 42,722,209 (GRCm39)	L415I	probably benign	Het
Rapgef6	A	G	11: 54,522,075 (GRCm39)	T291A	probably damaging	Het
Rb1	A	G	14: 73,517,692 (GRCm39)	I238T	probably benign	Het
Rp1	G	A	1: 4,418,575 (GRCm39)	H846Y	probably damaging	Het
Rpgrip1	T	A	14: 52,374,079 (GRCm39)		probably null	Het
Scaf4	T	C	16: 90,049,313 (GRCm39)	D258G	unknown	Het
Ska1	A	T	18: 74,339,920 (GRCm39)	C9S	probably benign	Het
Skp2	C	A	15: 9,113,786 (GRCm39)	G376C	probably damaging	Het
Slc43a1	G	A	2: 84,680,175 (GRCm39)	R107Q	probably damaging	Het
Slc44a3	T	A	3: 121,319,319 (GRCm39)	N141Y	probably damaging	Het
Slit1	A	T	19: 41,625,922 (GRCm39)	D613E	probably benign	Het
Spata22	A	T	11: 73,231,079 (GRCm39)	Y111F	probably benign	Het
Tchh	C	A	3: 93,351,225 (GRCm39)	R222S	unknown	Het
Tekt3	A	G	11: 62,985,523 (GRCm39)	D443G	possibly damaging	Het
Tns2	A	T	15: 102,015,554 (GRCm39)	Q144L	possibly damaging	Het
Troap	T	C	15: 98,976,698 (GRCm39)	V274A	possibly damaging	Het
Ugt1a8	A	G	1: 88,015,995 (GRCm39)	Y136C	probably damaging	Het
Vmn2r23	A	T	6: 123,718,458 (GRCm39)	M604L	probably benign	Het
Vps13b	T	A	15: 35,597,639 (GRCm39)	W1060R	probably damaging	Het
Wdfy3	A	G	5: 102,042,926 (GRCm39)	S1942P	probably damaging	Het
Wdr90	G	A	17: 26,065,577 (GRCm39)	T1596I	probably damaging	Het
Zc3h4	A	G	7: 16,150,865 (GRCm39)	E69G	possibly damaging	Het

Other mutations in Chtf8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03344:Chtf8	APN	8	107,612,904 (GRCm39)	missense	probably damaging	1.00
R0751:Chtf8	UTSW	8	107,613,109 (GRCm39)	splice site	probably null
R0927:Chtf8	UTSW	8	107,612,150 (GRCm39)	missense	probably damaging	0.99
R2359:Chtf8	UTSW	8	107,612,048 (GRCm39)	splice site	probably null
R3938:Chtf8	UTSW	8	107,612,537 (GRCm39)	missense	probably benign	0.01
R4902:Chtf8	UTSW	8	107,612,424 (GRCm39)	missense	probably damaging	1.00
R7105:Chtf8	UTSW	8	107,611,883 (GRCm39)	missense	probably damaging	0.96
R8092:Chtf8	UTSW	8	107,612,938 (GRCm39)	missense	possibly damaging	0.87
R8512:Chtf8	UTSW	8	107,612,066 (GRCm39)	missense	probably benign
R8704:Chtf8	UTSW	8	107,612,672 (GRCm39)	missense	probably benign	0.13
R8987:Chtf8	UTSW	8	107,612,735 (GRCm39)	missense	probably benign
R9114:Chtf8	UTSW	8	107,612,481 (GRCm39)	missense	probably benign
R9127:Chtf8	UTSW	8	107,613,640 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- AAAACACCTGCCCTCATGTTG -3'
(R):5'- GCAGGTTCTCTTGGTGGAAACC -3'

Sequencing Primer
(F):5'- ATGTTGGGTCCACATCCAG -3'
(R):5'- GGCTCCATTTCCAAGGAATGCAG -3'

Posted On

2014-09-18