Mutagenetix > Incidental Mutation

Incidental Mutation 'R4902:Chtf8'

377884

Institutional Source

Beutler Lab

Gene Symbol

Chtf8

Ensembl Gene

ENSMUSG00000046691

Gene Name

CTF8, chromosome transmission fidelity factor 8

Synonyms

5830457O10Rik

MMRRC Submission

042505-MU

Accession Numbers

Essential gene?

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

Stock #

R4902 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107610495-107620225 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 107612424 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 172 (G172R)

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 damaging
Transcript: ENSMUST00000169312
AA Change: G172R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000129823
Gene: ENSMUSG00000046691
AA Change: G172R

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

0.1085

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 91.0%

Validation Efficiency

100% (84/84)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930488N24Rik	T	C	17: 14,326,408 (GRCm39)		noncoding transcript	Het
Adamdec1	T	C	14: 68,809,215 (GRCm39)	N249S	probably damaging	Het
Asxl1	T	A	2: 153,241,751 (GRCm39)	V767E	probably benign	Het
Atp6v1f	T	C	6: 29,470,271 (GRCm39)		probably benign	Het
Brix1	T	C	15: 10,483,378 (GRCm39)		probably null	Het
Cap2	T	C	13: 46,684,501 (GRCm39)	V2A	probably damaging	Het
Chrnb2	A	G	3: 89,668,248 (GRCm39)	C356R	probably damaging	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Dact2	T	A	17: 14,416,991 (GRCm39)	K403M	possibly damaging	Het
Dhx40	A	C	11: 86,662,036 (GRCm39)	L674V	possibly damaging	Het
Dlc1	A	G	8: 37,044,285 (GRCm39)	V1230A	probably damaging	Het
Dnah7b	T	A	1: 46,329,935 (GRCm39)	S3260T	probably benign	Het
Eef1a2	T	A	2: 180,789,881 (GRCm39)	D428V	probably benign	Het
Ehd1	T	C	19: 6,344,273 (GRCm39)	F178L	possibly damaging	Het
Eif4a3l1	T	G	6: 136,306,262 (GRCm39)	V241G	probably benign	Het
F2	A	T	2: 91,465,316 (GRCm39)		probably benign	Het
Fam186a	T	C	15: 99,844,723 (GRCm39)	D507G	unknown	Het
Fbxo11	G	A	17: 88,372,702 (GRCm39)		probably benign	Het
Fry	A	T	5: 150,419,168 (GRCm39)	M2871L	probably benign	Het
Gabrr2	A	G	4: 33,095,512 (GRCm39)	D442G	probably damaging	Het
Gemin5	A	G	11: 58,055,103 (GRCm39)	I214T	probably benign	Het
Gfra2	A	G	14: 71,204,455 (GRCm39)	N175S	probably damaging	Het
Gprc5c	G	T	11: 114,755,093 (GRCm39)	V257L	possibly damaging	Het
Jhy	C	T	9: 40,808,821 (GRCm39)		probably benign	Het
Krtap5-5	A	T	7: 141,783,156 (GRCm39)	C165S	unknown	Het
Lce1k	T	A	3: 92,714,134 (GRCm39)	T17S	unknown	Het
Map3k1	C	T	13: 111,909,146 (GRCm39)	R268Q	probably damaging	Het
Med13l	T	A	5: 118,883,195 (GRCm39)	H1351Q	probably damaging	Het
Met	T	C	6: 17,546,995 (GRCm39)	V876A	probably damaging	Het
Mical2	T	C	7: 111,936,107 (GRCm39)	S903P	probably benign	Het
Mkks	A	G	2: 136,718,094 (GRCm39)	V396A	probably benign	Het
Mvk	T	C	5: 114,594,060 (GRCm39)	V305A	probably benign	Het
Myo5a	A	G	9: 75,081,360 (GRCm39)	T982A	probably benign	Het
N4bp1	A	G	8: 87,588,311 (GRCm39)	V209A	probably benign	Het
Nfkbib	G	T	7: 28,461,173 (GRCm39)	S158*	probably null	Het
Nkx3-1	G	A	14: 69,428,367 (GRCm39)	G72S	probably benign	Het
Ogfr	A	G	2: 180,235,518 (GRCm39)		probably benign	Het
Or10a3	G	A	7: 108,480,624 (GRCm39)	T63I	probably benign	Het
Or2t43	G	A	11: 58,457,451 (GRCm39)	S240F	possibly damaging	Het
Or8s8	T	C	15: 98,354,796 (GRCm39)	S202P	probably damaging	Het
Pcdhga8	T	A	18: 37,948,978 (GRCm39)	D131E	probably damaging	Het
Plch1	A	G	3: 63,648,264 (GRCm39)		probably benign	Het
Polrmt	A	G	10: 79,582,385 (GRCm39)	M1T	probably null	Het
Ppp1r12a	T	C	10: 108,066,451 (GRCm39)	V214A	probably damaging	Het
Prr5l	A	G	2: 101,628,027 (GRCm39)		probably benign	Het
Prss35	A	G	9: 86,638,175 (GRCm39)	Q315R	probably damaging	Het
Psg29	G	T	7: 16,945,837 (GRCm39)	*469L	probably null	Het
Psmd4	A	G	3: 94,943,170 (GRCm39)	V78A	probably damaging	Het
Rad9a	C	A	19: 4,251,552 (GRCm39)		probably benign	Het
Rfx7	G	T	9: 72,524,573 (GRCm39)	V588F	probably benign	Het
Rnase13	A	C	14: 52,160,052 (GRCm39)	I29S	probably benign	Het
Steap2	T	C	5: 5,725,866 (GRCm39)	N386S	possibly damaging	Het
Ston1	A	G	17: 88,952,680 (GRCm39)	E719G	probably damaging	Het
Stx4a	A	G	7: 127,441,934 (GRCm39)		probably null	Het
Tekt2	A	G	4: 126,217,263 (GRCm39)	S212P	possibly damaging	Het
Tex19.2	A	T	11: 121,007,782 (GRCm39)	L222Q	probably damaging	Het
Tmem50a	A	G	4: 134,637,017 (GRCm39)	I38T	probably damaging	Het
Ubr2	A	G	17: 47,296,922 (GRCm39)	V286A	possibly damaging	Het
Ugt2b35	T	C	5: 87,151,159 (GRCm39)	M255T	possibly damaging	Het
Vmn2r17	T	A	5: 109,601,220 (GRCm39)	F839L	probably benign	Het
Wdr36	T	C	18: 32,992,314 (GRCm39)	V617A	possibly damaging	Het
Wtip	A	T	7: 33,818,437 (GRCm39)		probably null	Het
Yeats2	G	A	16: 20,026,418 (GRCm39)	G765S	probably benign	Het
Zbtb3	T	C	19: 8,781,331 (GRCm39)	S315P	probably benign	Het
Zdhhc8	T	C	16: 18,045,030 (GRCm39)	M259V	probably benign	Het
Zfp120	A	G	2: 149,961,440 (GRCm39)		probably benign	Het
Zfp236	A	T	18: 82,627,543 (GRCm39)	I1552N	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
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
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'- ACCTGGTCCTAAGCCACATG -3'
(R):5'- CACAGGTGCAGTTTCCTTCC -3'

Sequencing Primer
(F):5'- ACATGCTCGTGGGTTGGGAC -3'
(R):5'- AGGCCTGTTGGGACCAG -3'

Posted On

2016-04-15