Mutagenetix > Incidental Mutation

Incidental Mutation 'R1487:Chtf18'

163563

Institutional Source

Beutler Lab

Gene Symbol

Chtf18

Ensembl Gene

ENSMUSG00000019214

Gene Name

CTF18, chromosome transmission fidelity factor 18

Synonyms

CTF18, 6030457M03Rik

Accession Numbers

Essential gene?

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

Stock #

R1487 (G1)

Quality Score

219

Status

Not validated

Chromosome

Chromosomal Location

25938004-25946409 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 25939583 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 67 (K67R)

Ref Sequence

ENSEMBL: ENSMUSP00000131349 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000048054
AA Change: K810R

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

SMART Domains

Protein: ENSMUSP00000043896
Gene: ENSMUSG00000019214
AA Change: K810R

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
AA Change: K67R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000131349
Gene: ENSMUSG00000019214
AA Change: K67R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168060

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168914

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: 99.2%
3x: 98.3%
10x: 96.4%
20x: 92.9%

Validation Efficiency

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	A	C	6: 146,854,877 (GRCm39)	V55G	probably benign	Het
Abhd13	A	G	8: 10,037,402 (GRCm39)		probably benign	Het
Arid5b	T	A	10: 67,933,044 (GRCm39)	K953*	probably null	Het
Armh3	A	C	19: 45,928,882 (GRCm39)		probably null	Het
B4galt6	A	G	18: 20,839,571 (GRCm39)	V121A	possibly damaging	Het
C1qtnf12	G	A	4: 156,050,331 (GRCm39)	E223K	probably damaging	Het
Calu	A	G	6: 29,366,955 (GRCm39)	I208V	probably benign	Het
Cd14	T	C	18: 36,858,537 (GRCm39)	N306S	probably benign	Het
Cdc16	T	A	8: 13,821,445 (GRCm39)	N415K	probably benign	Het
Cfap57	C	A	4: 118,471,978 (GRCm39)	V134F	probably benign	Het
Chrna2	C	T	14: 66,380,812 (GRCm39)	A27V	probably benign	Het
Clock	T	C	5: 76,414,201 (GRCm39)		probably null	Het
Cplane1	C	T	15: 8,215,715 (GRCm39)	R424W	probably damaging	Het
Eif4g1	G	A	16: 20,497,623 (GRCm39)		probably benign	Het
Eps8l2	A	T	7: 140,941,531 (GRCm39)	M601L	probably benign	Het
Fat4	A	G	3: 39,050,066 (GRCm39)	E3976G	possibly damaging	Het
Flrt3	T	A	2: 140,502,854 (GRCm39)	H258L	probably damaging	Het
Flt4	C	A	11: 49,523,971 (GRCm39)	T517K	possibly damaging	Het
Galnt7	T	C	8: 57,993,073 (GRCm39)	N416S	probably damaging	Het
Gipc1	C	T	8: 84,387,808 (GRCm39)	Q63*	probably null	Het
Gm17079	A	T	14: 51,930,542 (GRCm39)		probably null	Het
Gucy2c	T	A	6: 136,725,824 (GRCm39)	I375F	possibly damaging	Het
Hps4	C	T	5: 112,525,865 (GRCm39)	Q629*	probably null	Het
Hunk	A	G	16: 90,183,525 (GRCm39)	Y61C	probably damaging	Het
Itga6	T	C	2: 71,673,584 (GRCm39)	S873P	possibly damaging	Het
Kcnc1	A	G	7: 46,047,298 (GRCm39)	H66R	possibly damaging	Het
Kcnc1	T	C	7: 46,084,772 (GRCm39)		probably null	Het
Khdc3	A	G	9: 73,009,846 (GRCm39)	T19A	probably benign	Het
Kmt2a	T	C	9: 44,745,287 (GRCm39)		probably benign	Het
Lipe	C	T	7: 25,084,240 (GRCm39)	A615T	possibly damaging	Het
Lrguk	A	T	6: 34,039,295 (GRCm39)	M269L	probably benign	Het
Lrrc18	A	G	14: 32,730,640 (GRCm39)	N60D	probably damaging	Het
Magi1	T	C	6: 93,685,060 (GRCm39)	T773A	probably benign	Het
Map3k14	T	A	11: 103,116,163 (GRCm39)	D755V	possibly damaging	Het
Mecom	T	C	3: 30,034,213 (GRCm39)	T488A	probably damaging	Het
Mmp10	T	G	9: 7,509,978 (GRCm39)	W473G	probably damaging	Het
Mrgpra2a	C	T	7: 47,076,434 (GRCm39)	V275I	probably benign	Het
Myo7a	A	C	7: 97,703,017 (GRCm39)		probably null	Het
Nadsyn1	C	T	7: 143,360,662 (GRCm39)	V369I	probably benign	Het
Nptxr	C	A	15: 79,674,104 (GRCm39)	G424V	probably damaging	Het
Nrg2	C	T	18: 36,185,965 (GRCm39)	G258E	possibly damaging	Het
Nup210	G	A	6: 91,019,558 (GRCm39)	P221S	probably damaging	Het
Odad2	A	T	18: 7,273,245 (GRCm39)	Y282N	probably damaging	Het
Or52a33	T	A	7: 103,288,801 (GRCm39)	H182L	probably damaging	Het
Or6c208	T	C	10: 129,224,209 (GRCm39)	F236L	probably benign	Het
Oxct1	A	G	15: 4,177,057 (GRCm39)	D477G	possibly damaging	Het
Pcdh8	G	T	14: 80,006,987 (GRCm39)	D525E	probably damaging	Het
Phldb2	A	G	16: 45,609,387 (GRCm39)	S740P	probably damaging	Het
Prss54	A	G	8: 96,286,276 (GRCm39)	S266P	probably benign	Het
Ptprh	T	A	7: 4,555,737 (GRCm39)	I741F	probably damaging	Het
Rab11fip1	G	T	8: 27,644,240 (GRCm39)	S515Y	probably damaging	Het
Recql4	T	A	15: 76,593,183 (GRCm39)	N309I	probably benign	Het
Sec24a	T	C	11: 51,622,713 (GRCm39)	T388A	possibly damaging	Het
Setd6	T	A	8: 96,444,556 (GRCm39)	L83H	probably damaging	Het
Slc6a12	G	A	6: 121,340,716 (GRCm39)	W534*	probably null	Het
St14	C	T	9: 31,008,476 (GRCm39)	C488Y	probably damaging	Het
Supt16	A	G	14: 52,414,065 (GRCm39)		probably null	Het
Tanc2	A	G	11: 105,814,460 (GRCm39)	Y1968C	probably damaging	Het
Tcaim	T	A	9: 122,647,897 (GRCm39)	Y137*	probably null	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Tpm3	A	T	3: 89,997,389 (GRCm39)		probably null	Het
Trip12	A	T	1: 84,746,352 (GRCm39)	N475K	probably damaging	Het
Twnk	G	T	19: 44,996,815 (GRCm39)		probably null	Het
Zfp287	T	C	11: 62,616,115 (GRCm39)	K192R	probably damaging	Het
Zfp799	G	T	17: 33,039,651 (GRCm39)	T204N	possibly damaging	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
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
R7095:Chtf18	UTSW	17	25,941,652 (GRCm39)	missense	probably damaging	1.00
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'- AGGATACCAAGGTTGCTGCTGC -3'
(R):5'- TGCCACGAATCACTTTCCCCAG -3'

Sequencing Primer
(F):5'- TGGACAGAGGTTATATGAACCCTAC -3'
(R):5'- TGTCAGGTATGGCACCGAC -3'

Posted On

2014-03-28