Mutagenetix > Incidental Mutation

Incidental Mutation 'R7095:Chtf18'

550454

Institutional Source

Beutler Lab

Gene Symbol

Chtf18

Ensembl Gene

ENSMUSG00000019214

Gene Name

CTF18, chromosome transmission fidelity factor 18

Synonyms

CTF18, 6030457M03Rik

MMRRC Submission

045243-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.338) question?

Stock #

R7095 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

25938004-25946409 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 25941652 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Cysteine at position 584 (W584C)

Ref Sequence

ENSEMBL: ENSMUSP00000043896 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048054] [ENSMUST00000115108] [ENSMUST00000167940] [ENSMUST00000170070] [ENSMUST00000170575] [ENSMUST00000172002]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000048054
AA Change: W584C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000043896
Gene: ENSMUSG00000019214
AA Change: W584C

Domain	Start	End	E-Value	Type
low complexity region	20	30	N/A	INTRINSIC
low complexity region	73	84	N/A	INTRINSIC
low complexity region	117	130	N/A	INTRINSIC
low complexity region	154	168	N/A	INTRINSIC
coiled coil region	228	255	N/A	INTRINSIC
low complexity region	299	310	N/A	INTRINSIC
low complexity region	343	354	N/A	INTRINSIC
AAA	361	518	1.99e-11	SMART
low complexity region	646	661	N/A	INTRINSIC
Blast:AAA	728	850	7e-9	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000115108

SMART Domains

Protein: ENSMUSP00000110760
Gene: ENSMUSG00000025739

Domain	Start	End	E-Value	Type
G_gamma	3	67	1.32e-16	SMART
GGL	6	67	2.09e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000167940

SMART Domains

Protein: ENSMUSP00000131349
Gene: ENSMUSG00000019214

Domain	Start	End	E-Value	Type
low complexity region	8	20	N/A	INTRINSIC
Blast:AAA	21	107	9e-11	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000169767

Predicted Effect

probably benign
Transcript: ENSMUST00000170070

SMART Domains

Protein: ENSMUSP00000131768
Gene: ENSMUSG00000019214

Domain	Start	End	E-Value	Type
low complexity region	20	31	N/A	INTRINSIC
low complexity region	74	85	N/A	INTRINSIC
low complexity region	118	131	N/A	INTRINSIC
low complexity region	155	169	N/A	INTRINSIC
coiled coil region	229	256	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000170575

SMART Domains

Protein: ENSMUSP00000131366
Gene: ENSMUSG00000019214

Domain	Start	End	E-Value	Type
low complexity region	20	31	N/A	INTRINSIC
low complexity region	74	85	N/A	INTRINSIC
low complexity region	118	131	N/A	INTRINSIC
low complexity region	155	169	N/A	INTRINSIC
coiled coil region	229	256	N/A	INTRINSIC
low complexity region	300	311	N/A	INTRINSIC
low complexity region	344	355	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000172002

SMART Domains

Protein: ENSMUSP00000131648
Gene: ENSMUSG00000025739

Domain	Start	End	E-Value	Type
G_gamma	3	67	1.32e-16	SMART
GGL	6	67	2.09e-9	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

99% (71/72)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which is a component of a replication factor C (RFC) complex, which loads proliferating cell nuclear antigen (PCNA) on to DNA during the S phase of cell cycle. The encoded protein may interact with other proteins, including RFC complex 3, to form a clamp loader complex that plays a role in sister chromatid cohesion during metaphase-anaphase transition. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit partial prenatal lethality, reduced body and testis weight, defective male meiosis, impaired spermatogenesis, oligozoospermia, and reduced male fertility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf1	A	G	17: 36,268,403 (GRCm39)	V809A	possibly damaging	Het
Adam32	T	A	8: 25,404,086 (GRCm39)	D242V	probably damaging	Het
Adamts9	T	A	6: 92,864,672 (GRCm39)	H763L	probably benign	Het
Aff1	A	G	5: 103,990,951 (GRCm39)	D967G	probably damaging	Het
Anpep	A	T	7: 79,491,950 (GRCm39)	L17Q	possibly damaging	Het
Appbp2	G	T	11: 85,125,553 (GRCm39)	S28*	probably null	Het
Bach1	G	A	16: 87,516,179 (GRCm39)	R240Q	probably benign	Het
Bod1l	A	G	5: 41,952,411 (GRCm39)		probably null	Het
Capn5	G	A	7: 97,775,038 (GRCm39)	T534I	probably benign	Het
Cbx2	T	C	11: 118,918,885 (GRCm39)	I150T	probably damaging	Het
Cdh11	A	G	8: 103,384,899 (GRCm39)	V392A	probably damaging	Het
Cenpf	A	T	1: 189,391,373 (GRCm39)	C803S	probably benign	Het
Cep135	A	G	5: 76,741,905 (GRCm39)	T114A	probably benign	Het
Chd2	A	T	7: 73,121,629 (GRCm39)	D994E	probably damaging	Het
Dclk2	C	T	3: 86,700,566 (GRCm39)	R638H	probably damaging	Het
Dgkh	C	A	14: 78,865,224 (GRCm39)	M172I	probably benign	Het
Dpy19l2	T	G	9: 24,607,110 (GRCm39)	H117P	probably benign	Het
Dzip3	A	T	16: 48,748,153 (GRCm39)	N908K	probably benign	Het
Erc2	A	T	14: 27,620,550 (GRCm39)	N393Y	probably damaging	Het
Fam118b	T	C	9: 35,132,786 (GRCm39)	E291G	possibly damaging	Het
Fam193a	C	T	5: 34,615,378 (GRCm39)	L816F	probably damaging	Het
Fat2	A	G	11: 55,202,157 (GRCm39)	Y306H	probably damaging	Het
Fndc10	C	T	4: 155,779,574 (GRCm39)	T206I	probably damaging	Het
Fzd1	GGGACTCCTCCACCTCCCTGGA	GGGA	5: 4,805,824 (GRCm39)		probably benign	Het
Gsk3a	A	T	7: 24,933,279 (GRCm39)	Y177N	probably damaging	Het
Haus5	T	C	7: 30,358,997 (GRCm39)	T222A	probably benign	Het
Igfbp7	G	T	5: 77,549,337 (GRCm39)	Q189K	probably benign	Het
Inppl1	A	T	7: 101,476,663 (GRCm39)	Y771*	probably null	Het
Iqck	A	T	7: 118,514,814 (GRCm39)	Y234F	probably damaging	Het
Irs1	G	T	1: 82,267,819 (GRCm39)	C132*	probably null	Het
Jmjd1c	T	G	10: 67,055,411 (GRCm39)	V277G	probably benign	Het
Klhl22	G	A	16: 17,610,614 (GRCm39)	V622M	probably damaging	Het
Kri1	C	T	9: 21,190,728 (GRCm39)	E378K		Het
Lilra6	C	T	7: 3,916,196 (GRCm39)	G221D	probably damaging	Het
Mecom	T	C	3: 30,035,103 (GRCm39)	E191G	probably damaging	Het
Mgrn1	T	A	16: 4,745,528 (GRCm39)		probably null	Het
Mical1	C	T	10: 41,355,206 (GRCm39)		probably null	Het
Mlxipl	T	C	5: 135,162,884 (GRCm39)	Y711H	possibly damaging	Het
Mpl	T	A	4: 118,301,260 (GRCm39)	H535L		Het
Mtarc1	A	G	1: 184,527,437 (GRCm39)	L297P	probably damaging	Het
Mtfr2	C	A	10: 20,228,666 (GRCm39)	H71N	probably benign	Het
Mtrf1	GCCTTC	GC	14: 79,660,931 (GRCm39)		probably null	Het
Myh15	A	G	16: 48,992,272 (GRCm39)	Q1582R	possibly damaging	Het
Neb	C	T	2: 52,067,635 (GRCm39)	E6062K	possibly damaging	Het
Nlrp4c	G	A	7: 6,063,792 (GRCm39)	A67T	probably damaging	Het
Noc3l	T	A	19: 38,800,789 (GRCm39)	H231L	probably benign	Het
Odf1	T	C	15: 38,219,803 (GRCm39)	Y44H	possibly damaging	Het
Or52e2	G	A	7: 102,804,537 (GRCm39)	T139I	probably damaging	Het
Or52s1b	C	T	7: 102,822,253 (GRCm39)	R197H	probably benign	Het
Or5j3	C	T	2: 86,129,021 (GRCm39)	P287L	probably benign	Het
Otol1	G	T	3: 69,926,027 (GRCm39)	E67D	probably benign	Het
Otud7b	A	G	3: 96,062,554 (GRCm39)	S598G	probably benign	Het
Ppwd1	T	A	13: 104,342,134 (GRCm39)	T607S	probably benign	Het
Prag1	A	G	8: 36,569,714 (GRCm39)	N99S	probably benign	Het
Ralgds	C	A	2: 28,439,320 (GRCm39)	Q737K	possibly damaging	Het
Scyl2	T	C	10: 89,505,549 (GRCm39)	H98R	probably damaging	Het
Secisbp2	A	C	13: 51,831,290 (GRCm39)	Q575H	probably benign	Het
Slc9a5	A	T	8: 106,084,268 (GRCm39)	H497L	probably benign	Het
Sufu	T	A	19: 46,464,027 (GRCm39)	V414E	probably damaging	Het
Tbc1d22b	A	T	17: 29,818,843 (GRCm39)	E399V	probably damaging	Het
Tcp10c	G	A	17: 13,576,196 (GRCm39)	V59I	probably benign	Het
Tdpoz3	T	C	3: 93,734,368 (GRCm39)	S348P	probably benign	Het
Tmem219	A	T	7: 126,490,928 (GRCm39)	F176L	probably damaging	Het
Trav6-2	A	G	14: 52,905,291 (GRCm39)	D104G	probably damaging	Het
Uba7	A	G	9: 107,860,538 (GRCm39)	K927R	probably benign	Het
Vps54	T	G	11: 21,221,720 (GRCm39)	D158E	probably benign	Het
Xpnpep1	C	T	19: 53,000,196 (GRCm39)		probably null	Het
Xpo7	G	A	14: 70,942,146 (GRCm39)	R73W	probably damaging	Het
Zfp532	A	T	18: 65,815,969 (GRCm39)	M781L	probably benign	Het
Zfp930	T	A	8: 69,681,193 (GRCm39)	I295K	probably benign	Het

Other mutations in Chtf18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00973:Chtf18	APN	17	25,941,090 (GRCm39)	missense	probably benign	0.32
IGL02117:Chtf18	APN	17	25,941,177 (GRCm39)	missense	possibly damaging	0.63
IGL03034:Chtf18	APN	17	25,946,320 (GRCm39)	utr 5 prime	probably benign
IGL03051:Chtf18	APN	17	25,939,938 (GRCm39)	missense	probably damaging	1.00
IGL03164:Chtf18	APN	17	25,945,816 (GRCm39)	missense	probably benign	0.24
R0046:Chtf18	UTSW	17	25,942,434 (GRCm39)	missense	probably benign	0.06
R0129:Chtf18	UTSW	17	25,946,285 (GRCm39)	nonsense	probably null
R1122:Chtf18	UTSW	17	25,943,597 (GRCm39)	missense	probably damaging	1.00
R1302:Chtf18	UTSW	17	25,938,132 (GRCm39)	missense	probably damaging	1.00
R1487:Chtf18	UTSW	17	25,939,583 (GRCm39)	missense	probably benign	0.00
R1614:Chtf18	UTSW	17	25,946,064 (GRCm39)	missense	probably benign	0.00
R1820:Chtf18	UTSW	17	25,944,913 (GRCm39)	missense	probably damaging	1.00
R4051:Chtf18	UTSW	17	25,938,168 (GRCm39)	missense	probably damaging	0.98
R4357:Chtf18	UTSW	17	25,938,106 (GRCm39)	missense	probably benign	0.09
R4529:Chtf18	UTSW	17	25,939,592 (GRCm39)	missense	probably damaging	1.00
R4804:Chtf18	UTSW	17	25,938,231 (GRCm39)	missense	probably benign
R4975:Chtf18	UTSW	17	25,943,540 (GRCm39)	missense	possibly damaging	0.72
R5154:Chtf18	UTSW	17	25,942,694 (GRCm39)	missense	probably damaging	1.00
R6113:Chtf18	UTSW	17	25,941,841 (GRCm39)	missense	probably damaging	1.00
R6118:Chtf18	UTSW	17	25,938,133 (GRCm39)	missense	probably damaging	1.00
R6446:Chtf18	UTSW	17	25,940,218 (GRCm39)	missense	probably benign	0.01
R7057:Chtf18	UTSW	17	25,940,100 (GRCm39)	missense	possibly damaging	0.49
R7482:Chtf18	UTSW	17	25,938,963 (GRCm39)	missense	possibly damaging	0.48
R7641:Chtf18	UTSW	17	25,941,249 (GRCm39)	splice site	probably null
R7729:Chtf18	UTSW	17	25,942,491 (GRCm39)	missense	probably damaging	1.00
R7939:Chtf18	UTSW	17	25,941,111 (GRCm39)	missense	probably damaging	0.99
R8007:Chtf18	UTSW	17	25,944,508 (GRCm39)	missense	probably damaging	0.96
R8051:Chtf18	UTSW	17	25,942,453 (GRCm39)	missense	probably benign	0.05
R8296:Chtf18	UTSW	17	25,941,165 (GRCm39)	missense	probably benign	0.00
R8321:Chtf18	UTSW	17	25,939,865 (GRCm39)	missense	probably benign	0.32
R8433:Chtf18	UTSW	17	25,945,918 (GRCm39)	missense	probably benign
R9386:Chtf18	UTSW	17	25,942,732 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCCCTTGGGGTAGAAACTG -3'
(R):5'- GACCGACAATGACATCCGTG -3'

Sequencing Primer
(F):5'- TTGGGGTAGAAACTGGGCCC -3'
(R):5'- AATGACATCCGTGCCTGC -3'

Posted On

2019-05-15