Mutagenetix > Incidental Mutation

Incidental Mutation 'R6829:Ccdc198'

534312

Institutional Source

Beutler Lab

Gene Symbol

Ccdc198

Ensembl Gene

ENSMUSG00000021850

Gene Name

coiled-coil domain containing 198

Synonyms

1700011H14Rik

MMRRC Submission

044939-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R6829 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

49463815-49482902 bp(-) (GRCm39)

Type of Mutation

makesense

DNA Base Change (assembly)

A to G at 49464025 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Glutamine at position 295 (*295Q)

Ref Sequence

ENSEMBL: ENSMUSP00000154726 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022398] [ENSMUST00000148109] [ENSMUST00000228936]

AlphaFold

Q9CPZ1

Predicted Effect

probably null
Transcript: ENSMUST00000022398
AA Change: *304Q

SMART Domains

Protein: ENSMUSP00000022398
Gene: ENSMUSG00000021850
AA Change: *304Q

Domain	Start	End	E-Value	Type
Pfam:DUF4619	1	294	1e-153	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000148109

SMART Domains

Protein: ENSMUSP00000114834
Gene: ENSMUSG00000021850

Domain	Start	End	E-Value	Type
Pfam:DUF4619	1	65	3.4e-26	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000228936
AA Change: *295Q

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

98% (40/41)

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam2	A	T	14: 66,265,446 (GRCm39)		probably null	Het
Adamts5	A	T	16: 85,666,959 (GRCm39)	M511K	possibly damaging	Het
Adcy9	A	G	16: 4,125,018 (GRCm39)		probably null	Het
Cast	T	C	13: 74,876,463 (GRCm39)	E113G	possibly damaging	Het
Dcaf1	T	A	9: 106,715,803 (GRCm39)	S307T	probably damaging	Het
Dmxl1	C	T	18: 50,054,091 (GRCm39)	P2566S	probably damaging	Het
Elac2	A	G	11: 64,880,190 (GRCm39)	E111G	probably benign	Het
Fbxw4	A	G	19: 45,624,813 (GRCm39)	F57S	possibly damaging	Het
Gm17655	T	G	5: 110,194,792 (GRCm39)	H330P	probably damaging	Het
Gm2a	T	C	11: 54,994,576 (GRCm39)		probably null	Het
Gon4l	T	A	3: 88,787,413 (GRCm39)	D600E	possibly damaging	Het
Gsg1l2	T	C	11: 67,665,684 (GRCm39)	I84T	possibly damaging	Het
Igsf9	A	G	1: 172,323,241 (GRCm39)	R652G	probably benign	Het
Il17rd	C	T	14: 26,809,379 (GRCm39)	R112*	probably null	Het
Jph1	C	A	1: 17,074,647 (GRCm39)	R457L	probably damaging	Het
Khdrbs3	T	C	15: 68,964,810 (GRCm39)	V249A	possibly damaging	Het
Mocs2	A	G	13: 114,955,980 (GRCm39)	S43G	probably benign	Het
Myom2	T	A	8: 15,172,643 (GRCm39)	L1190*	probably null	Het
Or2w1	T	A	13: 21,317,023 (GRCm39)	I26N	possibly damaging	Het
Or4f62	G	C	2: 111,986,139 (GRCm39)		probably benign	Het
Or5ac16	A	G	16: 59,021,898 (GRCm39)	V297A	probably damaging	Het
Or8k33	A	T	2: 86,383,613 (GRCm39)	L285*	probably null	Het
Pgc	A	T	17: 48,043,706 (GRCm39)		probably null	Het
Plch1	T	G	3: 63,604,939 (GRCm39)	D1655A	probably damaging	Het
Pnliprp2	G	A	19: 58,748,305 (GRCm39)	G29R	probably benign	Het
Polg	A	G	7: 79,109,857 (GRCm39)	V382A	probably benign	Het
Rb1cc1	T	C	1: 6,319,488 (GRCm39)	I969T	probably benign	Het
Rsf1	CG	CGACGGCGGGG	7: 97,229,115 (GRCm39)		probably benign	Het
Sdf2l1	C	G	16: 16,950,158 (GRCm39)	R6P	probably benign	Het
Sema7a	A	G	9: 57,868,181 (GRCm39)	E538G	probably benign	Het
Slc2a2	C	T	3: 28,781,590 (GRCm39)	Q513*	probably null	Het
Slc4a8	A	G	15: 100,698,419 (GRCm39)	Y636C	probably damaging	Het
Tasor	A	G	14: 27,164,438 (GRCm39)	D248G	possibly damaging	Het
Trpm5	A	G	7: 142,623,166 (GRCm39)		probably benign	Het
Vmn1r14	T	C	6: 57,210,536 (GRCm39)	L38P	probably benign	Het
Washc4	T	C	10: 83,396,380 (GRCm39)	S397P	probably damaging	Het
Wfdc3	C	T	2: 164,576,178 (GRCm39)	G38R	possibly damaging	Het
Zan	A	G	5: 137,414,540 (GRCm39)		probably benign	Het
Zfhx3	C	T	8: 109,676,915 (GRCm39)	T2655M	probably damaging	Het

Other mutations in Ccdc198

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01433:Ccdc198	APN	14	49,473,341 (GRCm39)	missense	probably benign	0.02
IGL02133:Ccdc198	APN	14	49,470,424 (GRCm39)	missense	probably benign	0.05
IGL03325:Ccdc198	APN	14	49,481,277 (GRCm39)	splice site	probably benign
R1751:Ccdc198	UTSW	14	49,473,341 (GRCm39)	missense	probably benign	0.09
R1767:Ccdc198	UTSW	14	49,473,341 (GRCm39)	missense	probably benign	0.09
R1846:Ccdc198	UTSW	14	49,473,420 (GRCm39)	missense	probably damaging	1.00
R1908:Ccdc198	UTSW	14	49,464,032 (GRCm39)	missense	probably damaging	1.00
R4563:Ccdc198	UTSW	14	49,471,955 (GRCm39)	missense	probably benign	0.27
R4883:Ccdc198	UTSW	14	49,482,560 (GRCm39)	missense	probably damaging	1.00
R4915:Ccdc198	UTSW	14	49,470,351 (GRCm39)	missense	probably benign	0.01
R5381:Ccdc198	UTSW	14	49,470,364 (GRCm39)	missense	probably damaging	1.00
R5986:Ccdc198	UTSW	14	49,470,403 (GRCm39)	missense	probably damaging	1.00
R6379:Ccdc198	UTSW	14	49,481,191 (GRCm39)	missense	probably benign	0.02
R6841:Ccdc198	UTSW	14	49,481,270 (GRCm39)	critical splice acceptor site	probably null
R7337:Ccdc198	UTSW	14	49,471,948 (GRCm39)	missense	possibly damaging	0.94
R8327:Ccdc198	UTSW	14	49,470,356 (GRCm39)	missense	possibly damaging	0.76
R9154:Ccdc198	UTSW	14	49,473,367 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GCATACATGACAAGGCTATTCATCAC -3'
(R):5'- CCCCAAGATGAAGAATTCTTGGAC -3'

Sequencing Primer
(F):5'- GGCTATTCATCACAAGATTCCAG -3'
(R):5'- GAAGAATTCTTGGACTGTCACACAG -3'

Posted On

2018-09-12