Mutagenetix > Incidental Mutation

Incidental Mutation 'R9114:Chtf8'

692420

Institutional Source

Beutler Lab

Gene Symbol

Chtf8

Ensembl Gene

ENSMUSG00000046691

Gene Name

CTF8, chromosome transmission fidelity factor 8

Synonyms

5830457O10Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.405) question?

Stock #

R9114 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

107610495-107620225 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 107612481 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 153 (A153S)

Ref Sequence

ENSEMBL: ENSMUSP00000129823 (fasta)

Gene Model

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

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 benign
Transcript: ENSMUST00000169312
AA Change: A153S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000129823
Gene: ENSMUSG00000046691
AA Change: A153S

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: ENSMUST00000176515

SMART Domains

Protein: ENSMUSP00000135688
Gene: ENSMUSG00000046691

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

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	T	A	5: 8,788,702 (GRCm39)	L1027*	probably null	Het
Actl11	T	A	9: 107,808,509 (GRCm39)	M944K	possibly damaging	Het
Afap1l2	T	C	19: 56,906,427 (GRCm39)	K491E	probably damaging	Het
Ahr	A	T	12: 35,561,164 (GRCm39)	D150E	probably damaging	Het
Arhgef1	T	A	7: 24,607,304 (GRCm39)	L17Q	probably damaging	Het
Bysl	A	G	17: 47,915,242 (GRCm39)	S169P		Het
C4b	A	T	17: 34,948,404 (GRCm39)	F1610I	probably damaging	Het
Ciapin1	C	T	8: 95,558,400 (GRCm39)		probably null	Het
Cnnm1	A	G	19: 43,429,395 (GRCm39)	E171G	possibly damaging	Het
Crybb3	T	C	5: 113,225,407 (GRCm39)	N155S	probably benign	Het
Dclk3	T	A	9: 111,317,683 (GRCm39)	M773K	probably benign	Het
Ddx18	A	T	1: 121,489,267 (GRCm39)	V260D	probably damaging	Het
Dmxl2	T	A	9: 54,307,321 (GRCm39)	N2216Y		Het
Epn2	T	C	11: 61,437,446 (GRCm39)	E42G	probably damaging	Het
Esrrg	C	A	1: 187,878,605 (GRCm39)	P229T	probably benign	Het
Esrrg	C	A	1: 187,878,606 (GRCm39)	P229Q	possibly damaging	Het
Ethe1	G	T	7: 24,305,643 (GRCm39)	R130L	probably benign	Het
Fgl2	G	A	5: 21,580,363 (GRCm39)	C235Y	probably damaging	Het
Fmnl1	C	T	11: 103,087,327 (GRCm39)	T890M	unknown	Het
Fsip2	C	G	2: 82,807,301 (GRCm39)	P1207A	probably benign	Het
Gc	C	T	5: 89,593,165 (GRCm39)	D85N	possibly damaging	Het
Gfi1	G	A	5: 107,869,370 (GRCm39)	R287W	probably damaging	Het
Gm3629	T	C	14: 17,834,566 (GRCm39)		probably null	Het
Hapln3	A	G	7: 78,771,712 (GRCm39)	F59S	probably benign	Het
Il24	G	A	1: 130,813,483 (GRCm39)	T38I	possibly damaging	Het
Izumo1	A	G	7: 45,276,583 (GRCm39)	D382G	probably benign	Het
Kdm5a	T	A	6: 120,382,887 (GRCm39)	Y739*	probably null	Het
Kif2b	T	A	11: 91,466,538 (GRCm39)	I582F	possibly damaging	Het
Klhdc1	A	G	12: 69,288,783 (GRCm39)	Y31C	probably damaging	Het
Lama1	G	A	17: 68,128,669 (GRCm39)	E3009K		Het
Mad2l1bp	G	A	17: 46,458,958 (GRCm39)	R191C	probably damaging	Het
Mark1	A	C	1: 184,644,261 (GRCm39)	S468A	probably damaging	Het
Mknk2	T	A	10: 80,504,823 (GRCm39)	N236Y	probably damaging	Het
Muc2	T	A	7: 141,287,983 (GRCm39)	C251*	probably null	Het
Nacad	T	C	11: 6,552,252 (GRCm39)	D313G	probably damaging	Het
Neb	G	T	2: 52,099,599 (GRCm39)	D4750E	probably benign	Het
Nlrp6	T	C	7: 140,506,332 (GRCm39)	S758P	probably damaging	Het
Nxt2	C	T	X: 141,020,747 (GRCm39)	A118V	possibly damaging	Het
Or13a28	A	C	7: 140,218,282 (GRCm39)	I223L	probably benign	Het
Or51b4	T	C	7: 103,530,569 (GRCm39)	T294A	possibly damaging	Het
Or8b3b	A	G	9: 38,583,892 (GRCm39)	F283L	probably benign	Het
Oxtr	A	G	6: 112,466,481 (GRCm39)	V93A	probably damaging	Het
Pbx3	C	A	2: 34,103,271 (GRCm39)	D234Y	probably damaging	Het
Pde4b	A	T	4: 102,459,826 (GRCm39)	T554S	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Pid1	A	T	1: 84,015,955 (GRCm39)	Y151N	probably damaging	Het
Plcd4	A	G	1: 74,591,307 (GRCm39)	E234G	possibly damaging	Het
Pou6f1	A	G	15: 100,478,789 (GRCm39)	V373A	probably benign	Het
Ppp1r12c	T	C	7: 4,485,792 (GRCm39)	K685E	possibly damaging	Het
Rnf34	T	A	5: 122,999,957 (GRCm39)	V71D	probably damaging	Het
Rpap2	T	G	5: 107,746,156 (GRCm39)	H11Q	possibly damaging	Het
Skint2	A	G	4: 112,496,834 (GRCm39)	T247A	probably benign	Het
Stat5b	T	A	11: 100,692,350 (GRCm39)	N145Y	probably damaging	Het
Sv2b	A	G	7: 74,856,017 (GRCm39)	L91P	probably damaging	Het
Syt1	A	G	10: 108,340,376 (GRCm39)	I314T	probably damaging	Het
Tlk1	A	T	2: 70,572,502 (GRCm39)	N355K	probably benign	Het
Tnc	C	A	4: 63,890,973 (GRCm39)	M1636I	probably benign	Het
Trank1	C	A	9: 111,162,843 (GRCm39)	A34D	probably damaging	Het
Unc13c	A	G	9: 73,719,665 (GRCm39)	I1001T	probably benign	Het
Vdr	T	C	15: 97,765,136 (GRCm39)	D201G	probably benign	Het
Vmn2r115	A	T	17: 23,564,307 (GRCm39)	I160L	probably benign	Het
Wdr81	C	A	11: 75,335,250 (GRCm39)	R1772L	probably damaging	Het
Zfp457	T	C	13: 67,442,068 (GRCm39)	D169G	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
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
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
R9127:Chtf8	UTSW	8	107,613,640 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- CTGGAAACATACCCGACCTAGG -3'
(R):5'- GCATGACTTCTTTCCCAAGAGG -3'

Sequencing Primer
(F):5'- CCGGGTTTGTACCTAAAAAGC -3'
(R):5'- GGATGAATCCCACTGGCAC -3'

Posted On

2021-12-30