Mutagenetix > Incidental Mutation

Incidental Mutation 'R0751:Chtf8'

474049

Institutional Source

Beutler Lab

Gene Symbol

Chtf8

Ensembl Gene

ENSMUSG00000046691

Gene Name

CTF8, chromosome transmission fidelity factor 8

Synonyms

5830457O10Rik

MMRRC Submission

038931-MU

Accession Numbers

Essential gene?

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

Stock #

R0751 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

107610495-107620225 bp(-) (GRCm39)

Type of Mutation

splice site (1911 bp from exon)

DNA Base Change (assembly)

A to G at 107613109 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000135596 (fasta)

Gene Model

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

AlphaFold

P0CG15

Predicted Effect

probably null
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 benign
Transcript: ENSMUST00000169312

SMART Domains

Protein: ENSMUSP00000129823
Gene: ENSMUSG00000046691

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
AA Change: I64T

PolyPhen 2 Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000135077
Gene: ENSMUSG00000046691
AA Change: I64T

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

Predicted Effect

probably null
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
AA Change: I45T

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000135221
Gene: ENSMUSG00000046691
AA Change: I45T

Domain	Start	End	E-Value	Type
Pfam:Ctf8	1	94	8e-24	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: ENSMUST00000176515
AA Change: I45T

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000135688
Gene: ENSMUSG00000046691
AA Change: I45T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000177068
AA Change: I64T

PolyPhen 2 Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000135029
Gene: ENSMUSG00000046691
AA Change: I64T

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.2%
20x: 94.4%

Validation Efficiency

99% (73/74)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahdc1	T	A	4: 132,792,707 (GRCm39)	M1316K	probably benign	Het
Alox12	T	C	11: 70,137,776 (GRCm39)	I455V	probably benign	Het
Ankrd28	A	G	14: 31,486,225 (GRCm39)	L89P	probably damaging	Het
Aqp9	A	T	9: 71,045,487 (GRCm39)	C41S	probably damaging	Het
Arhgap17	T	C	7: 122,913,913 (GRCm39)	Y199C	probably damaging	Het
Aspm	A	T	1: 139,384,636 (GRCm39)		probably benign	Het
Cacfd1	T	C	2: 26,908,993 (GRCm39)		probably null	Het
Cd33	T	C	7: 43,181,545 (GRCm39)	D205G	probably damaging	Het
Chadl	T	C	15: 81,577,258 (GRCm39)	S198G	probably benign	Het
Clec4a4	G	T	6: 122,989,671 (GRCm39)	W104L	probably benign	Het
Clock	A	T	5: 76,377,208 (GRCm39)	I696K	possibly damaging	Het
Crtc2	T	A	3: 90,169,940 (GRCm39)	Y445*	probably null	Het
Dapk1	A	T	13: 60,844,112 (GRCm39)	I44F	probably damaging	Het
Dcbld2	T	A	16: 58,270,204 (GRCm39)		probably null	Het
Derl2	T	C	11: 70,905,373 (GRCm39)		probably null	Het
Dnah7c	A	G	1: 46,505,065 (GRCm39)	T154A	probably benign	Het
Dnmt3b	T	A	2: 153,516,762 (GRCm39)		probably null	Het
Dusp3	A	T	11: 101,872,554 (GRCm39)	S106T	probably benign	Het
Eftud2	A	G	11: 102,730,079 (GRCm39)	V897A	probably damaging	Het
Eif3l	T	A	15: 78,959,966 (GRCm39)		probably null	Het
Fbxo33	A	C	12: 59,265,878 (GRCm39)	F130V	probably damaging	Het
Ffar3	T	A	7: 30,554,529 (GRCm39)	N264Y	probably damaging	Het
Fig4	T	C	10: 41,148,978 (GRCm39)	D158G	probably damaging	Het
Fyco1	A	G	9: 123,648,218 (GRCm39)	F1239L	probably damaging	Het
Gabra2	A	G	5: 71,249,442 (GRCm39)		probably benign	Het
Gabra6	C	A	11: 42,205,844 (GRCm39)	R336S	probably benign	Het
Hkdc1	T	C	10: 62,234,452 (GRCm39)	D581G	probably damaging	Het
Ift70a2	C	T	2: 75,808,375 (GRCm39)	A46T	probably damaging	Het
Iqgap1	A	G	7: 80,375,321 (GRCm39)		probably benign	Het
Larp4b	T	C	13: 9,216,345 (GRCm39)		probably benign	Het
Lcp1	A	T	14: 75,436,827 (GRCm39)	M58L	probably benign	Het
Lrrc8a	T	C	2: 30,146,362 (GRCm39)	V392A	possibly damaging	Het
Mavs	A	T	2: 131,088,684 (GRCm39)	Y496F	probably damaging	Het
Mpi	A	T	9: 57,457,897 (GRCm39)	S102T	probably damaging	Het
Mroh9	G	A	1: 162,893,693 (GRCm39)	R161W	possibly damaging	Het
Myo1h	A	T	5: 114,458,747 (GRCm39)	S161C	probably damaging	Het
Napg	T	G	18: 63,127,409 (GRCm39)	H204Q	probably benign	Het
Nelfcd	C	A	2: 174,264,807 (GRCm39)	A182D	probably benign	Het
Ntsr2	G	T	12: 16,704,031 (GRCm39)	K91N	probably damaging	Het
Obscn	A	G	11: 58,972,645 (GRCm39)	S2134P	probably damaging	Het
Ogfod2	G	A	5: 124,251,539 (GRCm39)		probably benign	Het
Or13a19	G	A	7: 139,903,238 (GRCm39)	V209I	probably benign	Het
Or1e26	G	T	11: 73,479,970 (GRCm39)	T198K	probably benign	Het
Pcdha8	T	C	18: 37,127,123 (GRCm39)	V535A	probably damaging	Het
Pdlim2	C	T	14: 70,402,228 (GRCm39)	R296H	probably damaging	Het
Pik3r1	T	C	13: 101,822,866 (GRCm39)		probably null	Het
Pimreg	C	A	11: 71,933,939 (GRCm39)	Q22K	probably benign	Het
Pld5	A	G	1: 175,872,462 (GRCm39)	I225T	probably damaging	Het
Plxnc1	T	C	10: 94,667,195 (GRCm39)		probably benign	Het
Ppip5k2	A	T	1: 97,677,377 (GRCm39)	C306*	probably null	Het
Ptprc	A	G	1: 138,020,668 (GRCm39)	Y588H	probably damaging	Het
Rac2	T	G	15: 78,450,145 (GRCm39)	D65A	possibly damaging	Het
Rgl3	A	G	9: 21,888,676 (GRCm39)		probably null	Het
Serpinb1a	T	C	13: 33,027,199 (GRCm39)	K248E	probably benign	Het
Serpinb9e	A	C	13: 33,443,757 (GRCm39)	E259A	probably benign	Het
Slc12a4	A	T	8: 106,678,532 (GRCm39)	V266E	probably damaging	Het
Slc8b1	A	G	5: 120,662,260 (GRCm39)		probably benign	Het
Spink6	T	C	18: 44,204,605 (GRCm39)		probably benign	Het
Spta1	G	A	1: 174,012,256 (GRCm39)	R354H	probably damaging	Het
Ssb	T	A	2: 69,700,909 (GRCm39)	S330T	probably benign	Het
Stard9	G	T	2: 120,527,966 (GRCm39)	V1408F	probably benign	Het
Sumf2	A	T	5: 129,878,846 (GRCm39)	T61S	probably benign	Het
Sypl2	T	C	3: 108,124,072 (GRCm39)	T157A	probably damaging	Het
Tgfbr3	A	T	5: 107,287,749 (GRCm39)	D483E	probably damaging	Het
Tnrc6a	A	G	7: 122,769,563 (GRCm39)	N451S	possibly damaging	Het
Tradd	T	C	8: 105,986,403 (GRCm39)	E123G	probably damaging	Het
Trim36	T	C	18: 46,329,318 (GRCm39)	T41A	probably damaging	Het
Ttll7	C	T	3: 146,645,746 (GRCm39)	P535S	probably damaging	Het
Ubr4	C	T	4: 139,164,509 (GRCm39)		probably benign	Het
Uqcc5	G	T	14: 30,810,953 (GRCm39)		probably benign	Het
Vmn1r195	A	G	13: 22,463,181 (GRCm39)	Y217C	probably damaging	Het
Vmn2r63	A	C	7: 42,577,459 (GRCm39)	F360V	probably damaging	Het
Vmn2r78	G	A	7: 86,603,588 (GRCm39)	V589M	possibly damaging	Het
Vmn2r-ps158	A	G	7: 42,696,833 (GRCm39)	Y630C	probably damaging	Het
Vrk2	A	G	11: 26,433,331 (GRCm39)		probably benign	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
R0927:Chtf8	UTSW	8	107,612,150 (GRCm39)	missense	probably damaging	0.99
R2087:Chtf8	UTSW	8	107,612,568 (GRCm39)	nonsense	probably null
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

Posted On

2017-04-14