Mutagenetix > Incidental Mutation

Incidental Mutation 'R5154:Chtf18'

396614

Institutional Source

Beutler Lab

Gene Symbol

Chtf18

Ensembl Gene

ENSMUSG00000019214

Gene Name

CTF18, chromosome transmission fidelity factor 18

Synonyms

CTF18, 6030457M03Rik

MMRRC Submission

042736-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.353) question?

Stock #

R5154 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

25938004-25946409 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 25942694 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 412 (T412A)

Ref Sequence

ENSEMBL: ENSMUSP00000043896 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047273] [ENSMUST00000048054] [ENSMUST00000115108] [ENSMUST00000167940] [ENSMUST00000170575] [ENSMUST00000170070] [ENSMUST00000172002]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000047273

SMART Domains

Protein: ENSMUSP00000043825
Gene: ENSMUSG00000041199

Domain	Start	End	E-Value	Type
Pfam:PseudoU_synth_2	17	182	4.1e-27	PFAM
low complexity region	271	287	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000048054
AA Change: T412A

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

SMART Domains

Protein: ENSMUSP00000043896
Gene: ENSMUSG00000019214
AA Change: T412A

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

noncoding transcript
Transcript: ENSMUST00000168060

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168914

Predicted Effect

probably benign
Transcript: ENSMUST00000169767

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: 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: 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: 98.5%
10x: 96.9%
20x: 94.2%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700009N14Rik	A	C	4: 39,450,938 (GRCm39)	H48P	probably damaging	Het
Angptl7	C	T	4: 148,581,882 (GRCm39)	R168H	probably damaging	Het
Ankrd11	A	C	8: 123,619,878 (GRCm39)	F1325V	probably damaging	Het
Ankrd13c	A	G	3: 157,694,297 (GRCm39)	D266G	possibly damaging	Het
Apold1	A	T	6: 134,960,636 (GRCm39)	H30L	possibly damaging	Het
Arel1	A	G	12: 84,978,547 (GRCm39)	F362L	probably benign	Het
Arhgef4	T	A	1: 34,771,455 (GRCm39)	M1254K	probably benign	Het
Arid2	T	A	15: 96,299,866 (GRCm39)	V1793E	probably damaging	Het
Bcl7a	T	C	5: 123,507,422 (GRCm39)	S156P	probably damaging	Het
Cbr3	A	G	16: 93,482,027 (GRCm39)	I128V	probably benign	Het
Cct6b	G	A	11: 82,630,521 (GRCm39)	P299L	probably damaging	Het
Cd180	A	T	13: 102,842,282 (GRCm39)	N443Y	probably damaging	Het
Cd80	A	G	16: 38,294,342 (GRCm39)	K75R	probably benign	Het
Cdk1	A	T	10: 69,176,298 (GRCm39)		probably benign	Het
Cep192	T	A	18: 67,983,755 (GRCm39)	F1565I	probably damaging	Het
Cit	T	C	5: 116,126,464 (GRCm39)	L1590P	probably damaging	Het
Clcn2	T	A	16: 20,522,053 (GRCm39)	R845S	probably benign	Het
Cndp2	C	T	18: 84,686,727 (GRCm39)	V432I	probably benign	Het
Cnnm2	A	T	19: 46,751,571 (GRCm39)	R454W	probably benign	Het
Cpne8	T	G	15: 90,384,121 (GRCm39)	I480L	probably benign	Het
Cr2	A	G	1: 194,841,754 (GRCm39)	W400R	probably damaging	Het
Cul5	A	G	9: 53,537,167 (GRCm39)	L528P	probably damaging	Het
Dlgap5	C	T	14: 47,651,177 (GRCm39)	V119M	probably damaging	Het
Dnah12	T	C	14: 26,571,320 (GRCm39)	S190P	probably benign	Het
Dnah3	T	A	7: 119,551,642 (GRCm39)	K2881N	probably damaging	Het
Dnmt3a	A	T	12: 3,946,008 (GRCm39)	I288F	probably damaging	Het
Dse	T	A	10: 34,029,657 (GRCm39)	T478S	possibly damaging	Het
Edn1	C	T	13: 42,458,499 (GRCm39)	T104I	probably benign	Het
Eef2	GCCC	GCCCC	10: 81,014,601 (GRCm39)		probably null	Het
Eprs1	A	G	1: 185,145,662 (GRCm39)	H1157R	probably damaging	Het
Fam168b	G	A	1: 34,857,180 (GRCm39)	T179I	possibly damaging	Het
Fzd5	A	G	1: 64,775,131 (GRCm39)	V210A	probably benign	Het
Gm9742	T	C	13: 8,085,081 (GRCm39)		noncoding transcript	Het
Gpc1	G	A	1: 92,784,751 (GRCm39)	G308D	probably damaging	Het
Gpr141	C	T	13: 19,936,412 (GRCm39)	R121K	probably benign	Het
Greb1l	A	G	18: 10,458,312 (GRCm39)	T30A	probably benign	Het
Grk3	A	T	5: 113,089,583 (GRCm39)	I281N	probably damaging	Het
Hnrnpdl	A	T	5: 100,184,371 (GRCm39)	Y289*	probably null	Het
Hsf2	T	G	10: 57,380,808 (GRCm39)	V214G	probably benign	Het
Igf2bp1	G	A	11: 95,854,373 (GRCm39)	Q563*	probably null	Het
Il31ra	T	A	13: 112,660,531 (GRCm39)	D605V	possibly damaging	Het
Insm2	G	A	12: 55,646,982 (GRCm39)	C242Y	probably damaging	Het
Ints3	C	T	3: 90,322,868 (GRCm39)	V121I	probably benign	Het
Kcnt2	A	T	1: 140,278,994 (GRCm39)	L48F	possibly damaging	Het
Kit	G	A	5: 75,801,200 (GRCm39)	V529M	probably damaging	Het
Mark2	G	A	19: 7,260,439 (GRCm39)	P13S	probably damaging	Het
Mthfsd	A	G	8: 121,825,479 (GRCm39)	V364A	probably damaging	Het
Mtmr11	C	G	3: 96,071,636 (GRCm39)	S185R	probably benign	Het
Myot	A	G	18: 44,487,281 (GRCm39)	I373V	probably benign	Het
N4bp3	A	T	11: 51,536,139 (GRCm39)	V231D	probably benign	Het
Or5t17	T	C	2: 86,832,382 (GRCm39)	V23A	probably benign	Het
Or8k39	A	T	2: 86,563,121 (GRCm39)	Y278*	probably null	Het
Pdcd6ip	A	G	9: 113,520,610 (GRCm39)	F125L	probably damaging	Het
Prpf39	A	T	12: 65,095,051 (GRCm39)	Q124L	probably benign	Het
Reln	A	T	5: 22,193,763 (GRCm39)	N1398K	probably damaging	Het
Rhod	A	T	19: 4,482,122 (GRCm39)	D97E	probably damaging	Het
Rxra	T	C	2: 27,647,880 (GRCm39)		probably null	Het
Slc1a3	T	C	15: 8,672,433 (GRCm39)	I349V	probably benign	Het
Slc37a2	A	T	9: 37,142,939 (GRCm39)	*502R	probably null	Het
Slc9b1	T	C	3: 135,078,940 (GRCm39)	I199T	probably damaging	Het
Spart	C	T	3: 55,024,750 (GRCm39)	P115L	probably damaging	Het
Tnpo1	A	T	13: 99,006,813 (GRCm39)	C205S	possibly damaging	Het
Tubb1	T	A	2: 174,298,657 (GRCm39)	I113N	probably benign	Het
Tyrp1	G	A	4: 80,768,954 (GRCm39)	V483I	probably benign	Het
Vwde	T	C	6: 13,215,757 (GRCm39)	S100G	probably benign	Het
Zfhx3	A	T	8: 109,527,207 (GRCm39)	I1035F	probably damaging	Het
Zfp618	G	T	4: 63,051,446 (GRCm39)	K742N	probably damaging	Het
Zfp873	T	C	10: 81,896,025 (GRCm39)	V252A	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
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
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'- CCAAAAGAACGTTGATGGCCG -3'
(R):5'- TTCTCAAACCCTGGCTAGTGG -3'

Sequencing Primer
(F):5'- AACGTTGATGGCCGCCTTC -3'
(R):5'- CTAGGGTCCTGGATATTGGATGTAG -3'

Posted On

2016-06-21