Mutagenetix > Incidental Mutation

Incidental Mutation 'R9391:Ccdc18'

710587

Institutional Source

Beutler Lab

Gene Symbol

Ccdc18

Ensembl Gene

ENSMUSG00000056531

Gene Name

coiled-coil domain containing 18

Synonyms

4932411G06Rik, 1700021E15Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9391 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

108132875-108233628 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 108228904 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 1404 (F1404L)

Ref Sequence

ENSEMBL: ENSMUSP00000036507 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047677]

AlphaFold

Q640L5

Predicted Effect

probably benign
Transcript: ENSMUST00000047677
AA Change: F1404L

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000036507
Gene: ENSMUSG00000056531
AA Change: F1404L

Domain	Start	End	E-Value	Type
coiled coil region	109	140	N/A	INTRINSIC
coiled coil region	168	320	N/A	INTRINSIC
coiled coil region	344	405	N/A	INTRINSIC
coiled coil region	507	1307	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006E09Rik	G	T	11: 101,990,829	R117I	probably benign	Het
A430089I19Rik	G	T	5: 94,303,142	P375H	probably damaging	Het
Abca5	T	C	11: 110,287,716	T1144A	probably benign	Het
Adam32	C	T	8: 24,884,456	E507K	probably damaging	Het
Adgrf3	T	C	5: 30,195,073	E974G	possibly damaging	Het
Agbl1	A	G	7: 76,421,854	E560G	unknown	Het
Ank2	A	T	3: 126,937,745	H671Q	probably damaging	Het
Asic5	C	T	3: 82,021,059	T485M	probably benign	Het
Bco2	T	C	9: 50,534,722		probably null	Het
C1qtnf6	A	G	15: 78,531,316	C23R	unknown	Het
Cfap46	A	T	7: 139,618,111	I2107N	unknown	Het
Col15a1	G	C	4: 47,288,200		probably benign	Het
Cpb2	A	C	14: 75,270,696	Q199P	probably damaging	Het
Dnah7b	T	A	1: 46,233,754	Y2347*	probably null	Het
Dyrk1a	T	A	16: 94,659,514	C10S	possibly damaging	Het
F2r	A	T	13: 95,604,148	V293D	probably damaging	Het
Gm28363	G	A	1: 117,698,899	W22*	probably null	Het
Hira	T	C	16: 18,949,142	S696P	possibly damaging	Het
Klhl2	A	G	8: 64,823,032	V73A	probably damaging	Het
Lalba	A	T	15: 98,482,536	W46R	probably damaging	Het
Map3k13	C	A	16: 21,921,915	T664N	probably benign	Het
Ncor1	T	A	11: 62,325,550	K1166*	probably null	Het
Npdc1	T	A	2: 25,407,967	M176K	possibly damaging	Het
Obscn	A	G	11: 59,073,582	S3045P	probably damaging	Het
Olfr53	G	A	7: 140,652,359	A127T	probably damaging	Het
Plekhg4	G	C	8: 105,379,411	K813N	probably damaging	Het
Prdm12	G	A	2: 31,654,150	R255H	probably benign	Het
Rbbp8	T	C	18: 11,721,933	I405T	possibly damaging	Het
Sctr	A	G	1: 120,055,448	T328A	probably benign	Het
Sec63	T	A	10: 42,805,105	S362T	probably benign	Het
Sgsm2	A	G	11: 74,853,804	L818P	probably damaging	Het
Shprh	G	A	10: 11,162,889	V463I	probably benign	Het
Smyd5	T	C	6: 85,441,757	F241S	probably damaging	Het
Tax1bp1	T	A	6: 52,758,235	Y680*	probably null	Het
Tbc1d17	A	G	7: 44,845,259	S212P	probably damaging	Het
Tle1	A	T	4: 72,197,922	V62E	probably damaging	Het
Tnfaip3	G	T	10: 19,007,327	N163K	probably damaging	Het
Trim8	T	A	19: 46,515,516	Y502*	probably null	Het
Trip12	A	T	1: 84,795,752	F54L	probably benign	Het
Trpc2	T	A	7: 102,095,860	L761Q	probably damaging	Het
Vps41	A	T	13: 18,810,446	E154D	probably benign	Het

Other mutations in Ccdc18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00836:Ccdc18	APN	5	108180525	missense	probably benign	0.01
IGL01380:Ccdc18	APN	5	108180887	missense	probably damaging	0.96
IGL01405:Ccdc18	APN	5	108202186	splice site	probably benign
IGL01718:Ccdc18	APN	5	108201348	missense	possibly damaging	0.81
IGL02098:Ccdc18	APN	5	108202111	missense	probably damaging	1.00
IGL02227:Ccdc18	APN	5	108148922	missense	possibly damaging	0.89
IGL02391:Ccdc18	APN	5	108136052	missense	probably damaging	1.00
IGL02794:Ccdc18	APN	5	108171748	missense	probably benign	0.00
IGL02808:Ccdc18	APN	5	108135969	splice site	probably benign
IGL02880:Ccdc18	APN	5	108135444	missense	probably benign	0.31
IGL03069:Ccdc18	APN	5	108228901	missense	probably damaging	1.00
IGL03390:Ccdc18	APN	5	108212131	missense	probably damaging	1.00
PIT4402001:Ccdc18	UTSW	5	108158619	missense	possibly damaging	0.94
R0004:Ccdc18	UTSW	5	108161700	missense	possibly damaging	0.52
R0112:Ccdc18	UTSW	5	108173761	missense	probably damaging	1.00
R0295:Ccdc18	UTSW	5	108173789	missense	probably damaging	1.00
R0546:Ccdc18	UTSW	5	108174964	missense	probably benign	0.06
R0619:Ccdc18	UTSW	5	108180416	missense	probably benign	0.04
R0648:Ccdc18	UTSW	5	108135560	missense	probably damaging	0.99
R0648:Ccdc18	UTSW	5	108174987	missense	probably damaging	1.00
R0666:Ccdc18	UTSW	5	108163664	missense	probably benign	0.19
R1271:Ccdc18	UTSW	5	108202116	nonsense	probably null
R1509:Ccdc18	UTSW	5	108188978	missense	possibly damaging	0.89
R1539:Ccdc18	UTSW	5	108191977	missense	probably damaging	1.00
R1542:Ccdc18	UTSW	5	108212188	missense	probably benign
R1663:Ccdc18	UTSW	5	108216090	missense	probably damaging	1.00
R1865:Ccdc18	UTSW	5	108193802	missense	probably benign	0.00
R1870:Ccdc18	UTSW	5	108220837	missense	possibly damaging	0.90
R1897:Ccdc18	UTSW	5	108196042	missense	probably benign	0.00
R1946:Ccdc18	UTSW	5	108228995	missense	probably damaging	1.00
R2420:Ccdc18	UTSW	5	108228588	missense	probably damaging	0.96
R2421:Ccdc18	UTSW	5	108228588	missense	probably damaging	0.96
R2422:Ccdc18	UTSW	5	108228588	missense	probably damaging	0.96
R4078:Ccdc18	UTSW	5	108158528	nonsense	probably null
R4079:Ccdc18	UTSW	5	108158528	nonsense	probably null
R4244:Ccdc18	UTSW	5	108148972	nonsense	probably null
R4409:Ccdc18	UTSW	5	108220842	nonsense	probably null
R4428:Ccdc18	UTSW	5	108136077	missense	probably benign	0.01
R4455:Ccdc18	UTSW	5	108161529	missense	possibly damaging	0.68
R4499:Ccdc18	UTSW	5	108228960	missense	possibly damaging	0.62
R4612:Ccdc18	UTSW	5	108135441	missense	probably benign	0.01
R4907:Ccdc18	UTSW	5	108136141	missense	probably benign	0.01
R4972:Ccdc18	UTSW	5	108192003	missense	probably benign
R5039:Ccdc18	UTSW	5	108158648	critical splice donor site	probably null
R5835:Ccdc18	UTSW	5	108140874	missense	possibly damaging	0.94
R5854:Ccdc18	UTSW	5	108206728	missense	possibly damaging	0.79
R6128:Ccdc18	UTSW	5	108163759	missense	possibly damaging	0.76
R6229:Ccdc18	UTSW	5	108171618	missense	probably benign	0.00
R6271:Ccdc18	UTSW	5	108174887	missense	possibly damaging	0.65
R6315:Ccdc18	UTSW	5	108161582	missense	probably benign
R6359:Ccdc18	UTSW	5	108135525	missense	probably damaging	1.00
R6375:Ccdc18	UTSW	5	108174954	missense	possibly damaging	0.79
R6388:Ccdc18	UTSW	5	108201348	missense	possibly damaging	0.81
R6415:Ccdc18	UTSW	5	108161746	missense	probably benign	0.03
R6560:Ccdc18	UTSW	5	108191924	missense	probably benign	0.09
R6645:Ccdc18	UTSW	5	108138930	missense	probably benign
R6664:Ccdc18	UTSW	5	108168100	nonsense	probably null
R6836:Ccdc18	UTSW	5	108197967	missense	probably damaging	1.00
R6947:Ccdc18	UTSW	5	108161535	missense	probably benign	0.26
R7009:Ccdc18	UTSW	5	108173862	critical splice donor site	probably null
R7052:Ccdc18	UTSW	5	108161688	missense	probably benign	0.15
R7058:Ccdc18	UTSW	5	108193798	missense	probably benign
R7087:Ccdc18	UTSW	5	108196122	missense	probably benign
R7117:Ccdc18	UTSW	5	108148969	missense	possibly damaging	0.95
R7176:Ccdc18	UTSW	5	108168106	missense	probably benign
R7382:Ccdc18	UTSW	5	108139007	missense	probably damaging	1.00
R7477:Ccdc18	UTSW	5	108220850	missense	probably damaging	0.98
R7493:Ccdc18	UTSW	5	108206617	nonsense	probably null
R7506:Ccdc18	UTSW	5	108163739	missense	possibly damaging	0.85
R7635:Ccdc18	UTSW	5	108229049	critical splice donor site	probably null
R7690:Ccdc18	UTSW	5	108228662	missense	probably benign	0.00
R7748:Ccdc18	UTSW	5	108149041	critical splice donor site	probably null
R7812:Ccdc18	UTSW	5	108180833	missense	probably benign	0.00
R8017:Ccdc18	UTSW	5	108228645	nonsense	probably null
R8019:Ccdc18	UTSW	5	108228645	nonsense	probably null
R8172:Ccdc18	UTSW	5	108163774	critical splice donor site	probably null
R8177:Ccdc18	UTSW	5	108197795	missense	possibly damaging	0.65
R8344:Ccdc18	UTSW	5	108161503	missense	possibly damaging	0.88
R8351:Ccdc18	UTSW	5	108155797	missense	probably damaging	1.00
R8415:Ccdc18	UTSW	5	108216033	missense	probably damaging	1.00
R8451:Ccdc18	UTSW	5	108155797	missense	probably damaging	1.00
R8547:Ccdc18	UTSW	5	108197859	missense	probably damaging	1.00
R8725:Ccdc18	UTSW	5	108180417	missense	possibly damaging	0.66
R9137:Ccdc18	UTSW	5	108148990	missense	probably damaging	0.98
R9418:Ccdc18	UTSW	5	108155803	missense	probably damaging	1.00
R9536:Ccdc18	UTSW	5	108138926	missense	probably benign	0.01
R9565:Ccdc18	UTSW	5	108191934	missense	probably damaging	0.99
RF013:Ccdc18	UTSW	5	108220716	missense	probably benign	0.05
X0024:Ccdc18	UTSW	5	108191922	missense	probably benign	0.01
X0063:Ccdc18	UTSW	5	108212197	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CAAATGCAGAAAACTACGTCGGTC -3'
(R):5'- GGGAGTAAGGATATCCAGCCTAC -3'

Sequencing Primer
(F):5'- AACTACGTCGGTCTATTAGTGCCAG -3'
(R):5'- AGGATATCCAGCCTACAATCTTTCTG -3'

Posted On

2022-04-18