Mutagenetix > Incidental Mutation

Incidental Mutation 'R6645:Ccdc18'

526064

Institutional Source

Beutler Lab

Gene Symbol

Ccdc18

Ensembl Gene

ENSMUSG00000056531

Gene Name

coiled-coil domain containing 18

Synonyms

1700021E15Rik, 4932411G06Rik

MMRRC Submission

044766-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6645 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

108280741-108381494 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 108286796 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 110 (V110D)

Ref Sequence

ENSEMBL: ENSMUSP00000142963 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047677] [ENSMUST00000197718]

AlphaFold

Q640L5

Predicted Effect

probably benign
Transcript: ENSMUST00000047677
AA Change: V110D

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

SMART Domains

Protein: ENSMUSP00000036507
Gene: ENSMUSG00000056531
AA Change: V110D

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

Predicted Effect

probably benign
Transcript: ENSMUST00000197718
AA Change: V110D

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

SMART Domains

Protein: ENSMUSP00000142963
Gene: ENSMUSG00000056531
AA Change: V110D

Domain	Start	End	E-Value	Type
coiled coil region	109	140	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200463

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 93.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anp32e	T	A	3: 95,844,414 (GRCm39)	F95I	probably damaging	Het
Arap1	A	G	7: 101,057,318 (GRCm39)	K628R	possibly damaging	Het
Arid4b	A	T	13: 14,294,737 (GRCm39)	E6D	probably damaging	Het
Atxn10	G	T	15: 85,260,904 (GRCm39)		probably null	Het
Ccdc170	A	G	10: 4,510,974 (GRCm39)	I678V	possibly damaging	Het
Cep85l	C	T	10: 53,177,768 (GRCm39)	E322K	probably benign	Het
Cilp	A	T	9: 65,186,587 (GRCm39)	Y894F	possibly damaging	Het
Ddx4	A	G	13: 112,777,708 (GRCm39)	S62P	possibly damaging	Het
Dph7	T	C	2: 24,855,663 (GRCm39)	V154A	probably benign	Het
Ephb6	T	C	6: 41,594,206 (GRCm39)	S579P	probably benign	Het
Fam53a	G	T	5: 33,758,128 (GRCm39)	Q332K	probably benign	Het
Fancm	A	G	12: 65,152,874 (GRCm39)	D1110G	probably damaging	Het
Fh1	A	T	1: 175,442,442 (GRCm39)	V136E	possibly damaging	Het
Greb1	G	T	12: 16,748,580 (GRCm39)	H1132Q	probably benign	Het
Jph1	A	G	1: 17,161,985 (GRCm39)	S226P	probably damaging	Het
Kbtbd8	C	T	6: 95,103,730 (GRCm39)	R460*	probably null	Het
Lama5	T	A	2: 179,821,463 (GRCm39)	N3059Y	probably damaging	Het
Lipc	G	A	9: 70,711,030 (GRCm39)	T289I	probably damaging	Het
Lrrc2	T	C	9: 110,799,175 (GRCm39)	W241R	probably damaging	Het
Mfn2	T	A	4: 147,979,069 (GRCm39)	I88F	probably damaging	Het
Mms19	G	C	19: 41,943,630 (GRCm39)	N366K	probably benign	Het
Myo15a	A	G	11: 60,368,118 (GRCm39)	T293A	probably benign	Het
Ndfip2	T	A	14: 105,529,707 (GRCm39)	Y179N	probably damaging	Het
Notch4	A	G	17: 34,806,790 (GRCm39)	D1909G	probably benign	Het
Obscn	C	T	11: 58,976,088 (GRCm39)	S2013N	probably damaging	Het
Oca2	G	T	7: 55,964,522 (GRCm39)	A357S	probably benign	Het
Or8b43	T	C	9: 38,360,219 (GRCm39)	L17S	probably damaging	Het
Or8g35	T	A	9: 39,381,562 (GRCm39)	L153F	probably benign	Het
Pde7b	C	A	10: 20,486,312 (GRCm39)		probably null	Het
Ppef2	T	C	5: 92,378,320 (GRCm39)	N625S	probably benign	Het
Prom1	A	T	5: 44,204,856 (GRCm39)	L192Q	probably damaging	Het
Satb2	T	C	1: 56,836,166 (GRCm39)	I542V	possibly damaging	Het
Sgpp2	C	T	1: 78,336,799 (GRCm39)	T59M	probably damaging	Het
Skint6	T	C	4: 112,749,235 (GRCm39)	T782A	possibly damaging	Het
Slc13a4	G	T	6: 35,245,774 (GRCm39)	Q624K	probably benign	Het
Slc9a3	T	A	13: 74,312,291 (GRCm39)	H629Q	probably damaging	Het
Slitrk3	G	T	3: 72,957,194 (GRCm39)	A526E	probably benign	Het
Spata31e2	T	A	1: 26,722,198 (GRCm39)	D994V	probably benign	Het
Sptssa	T	C	12: 54,693,275 (GRCm39)	Y53C	probably damaging	Het
Srsf10	T	C	4: 135,590,874 (GRCm39)	S159P	possibly damaging	Het
Tbce	T	C	13: 14,179,814 (GRCm39)	T341A	probably benign	Het
Tdrd6	A	G	17: 43,935,423 (GRCm39)	L1875P	probably benign	Het
Tkt	G	A	14: 30,292,168 (GRCm39)	G425R	probably damaging	Het
Tmprss7	T	C	16: 45,511,326 (GRCm39)	I17M	possibly damaging	Het
Ttc21b	T	C	2: 66,066,721 (GRCm39)	S311G	probably benign	Het
Ubr5	A	G	15: 38,029,750 (GRCm39)	Y492H	probably damaging	Het
Ush2a	T	C	1: 188,255,528 (GRCm39)	I1535T	probably damaging	Het
Vmn2r17	A	T	5: 109,576,247 (GRCm39)	N373Y	probably damaging	Het
Vmn2r6	A	T	3: 64,464,297 (GRCm39)	V179E	probably damaging	Het
Vps13b	A	G	15: 35,910,451 (GRCm39)	E3405G	probably benign	Het
Wac	A	T	18: 7,973,523 (GRCm39)	Q212H	probably damaging	Het
Washc4	C	T	10: 83,408,059 (GRCm39)	R555*	probably null	Het
Zmat4	G	A	8: 24,287,417 (GRCm39)		probably null	Het

Other mutations in Ccdc18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00836:Ccdc18	APN	5	108,328,391 (GRCm39)	missense	probably benign	0.01
IGL01380:Ccdc18	APN	5	108,328,753 (GRCm39)	missense	probably damaging	0.96
IGL01405:Ccdc18	APN	5	108,350,052 (GRCm39)	splice site	probably benign
IGL01718:Ccdc18	APN	5	108,349,214 (GRCm39)	missense	possibly damaging	0.81
IGL02098:Ccdc18	APN	5	108,349,977 (GRCm39)	missense	probably damaging	1.00
IGL02227:Ccdc18	APN	5	108,296,788 (GRCm39)	missense	possibly damaging	0.89
IGL02391:Ccdc18	APN	5	108,283,918 (GRCm39)	missense	probably damaging	1.00
IGL02794:Ccdc18	APN	5	108,319,614 (GRCm39)	missense	probably benign	0.00
IGL02808:Ccdc18	APN	5	108,283,835 (GRCm39)	splice site	probably benign
IGL02880:Ccdc18	APN	5	108,283,310 (GRCm39)	missense	probably benign	0.31
IGL03069:Ccdc18	APN	5	108,376,767 (GRCm39)	missense	probably damaging	1.00
IGL03390:Ccdc18	APN	5	108,359,997 (GRCm39)	missense	probably damaging	1.00
PIT4402001:Ccdc18	UTSW	5	108,306,485 (GRCm39)	missense	possibly damaging	0.94
R0004:Ccdc18	UTSW	5	108,309,566 (GRCm39)	missense	possibly damaging	0.52
R0112:Ccdc18	UTSW	5	108,321,627 (GRCm39)	missense	probably damaging	1.00
R0295:Ccdc18	UTSW	5	108,321,655 (GRCm39)	missense	probably damaging	1.00
R0546:Ccdc18	UTSW	5	108,322,830 (GRCm39)	missense	probably benign	0.06
R0619:Ccdc18	UTSW	5	108,328,282 (GRCm39)	missense	probably benign	0.04
R0648:Ccdc18	UTSW	5	108,322,853 (GRCm39)	missense	probably damaging	1.00
R0648:Ccdc18	UTSW	5	108,283,426 (GRCm39)	missense	probably damaging	0.99
R0666:Ccdc18	UTSW	5	108,311,530 (GRCm39)	missense	probably benign	0.19
R1271:Ccdc18	UTSW	5	108,349,982 (GRCm39)	nonsense	probably null
R1509:Ccdc18	UTSW	5	108,336,844 (GRCm39)	missense	possibly damaging	0.89
R1539:Ccdc18	UTSW	5	108,339,843 (GRCm39)	missense	probably damaging	1.00
R1542:Ccdc18	UTSW	5	108,360,054 (GRCm39)	missense	probably benign
R1663:Ccdc18	UTSW	5	108,363,956 (GRCm39)	missense	probably damaging	1.00
R1865:Ccdc18	UTSW	5	108,341,668 (GRCm39)	missense	probably benign	0.00
R1870:Ccdc18	UTSW	5	108,368,703 (GRCm39)	missense	possibly damaging	0.90
R1897:Ccdc18	UTSW	5	108,343,908 (GRCm39)	missense	probably benign	0.00
R1946:Ccdc18	UTSW	5	108,376,861 (GRCm39)	missense	probably damaging	1.00
R2420:Ccdc18	UTSW	5	108,376,454 (GRCm39)	missense	probably damaging	0.96
R2421:Ccdc18	UTSW	5	108,376,454 (GRCm39)	missense	probably damaging	0.96
R2422:Ccdc18	UTSW	5	108,376,454 (GRCm39)	missense	probably damaging	0.96
R4078:Ccdc18	UTSW	5	108,306,394 (GRCm39)	nonsense	probably null
R4079:Ccdc18	UTSW	5	108,306,394 (GRCm39)	nonsense	probably null
R4244:Ccdc18	UTSW	5	108,296,838 (GRCm39)	nonsense	probably null
R4409:Ccdc18	UTSW	5	108,368,708 (GRCm39)	nonsense	probably null
R4428:Ccdc18	UTSW	5	108,283,943 (GRCm39)	missense	probably benign	0.01
R4455:Ccdc18	UTSW	5	108,309,395 (GRCm39)	missense	possibly damaging	0.68
R4499:Ccdc18	UTSW	5	108,376,826 (GRCm39)	missense	possibly damaging	0.62
R4612:Ccdc18	UTSW	5	108,283,307 (GRCm39)	missense	probably benign	0.01
R4907:Ccdc18	UTSW	5	108,284,007 (GRCm39)	missense	probably benign	0.01
R4972:Ccdc18	UTSW	5	108,339,869 (GRCm39)	missense	probably benign
R5039:Ccdc18	UTSW	5	108,306,514 (GRCm39)	critical splice donor site	probably null
R5835:Ccdc18	UTSW	5	108,288,740 (GRCm39)	missense	possibly damaging	0.94
R5854:Ccdc18	UTSW	5	108,354,594 (GRCm39)	missense	possibly damaging	0.79
R6128:Ccdc18	UTSW	5	108,311,625 (GRCm39)	missense	possibly damaging	0.76
R6229:Ccdc18	UTSW	5	108,319,484 (GRCm39)	missense	probably benign	0.00
R6271:Ccdc18	UTSW	5	108,322,753 (GRCm39)	missense	possibly damaging	0.65
R6315:Ccdc18	UTSW	5	108,309,448 (GRCm39)	missense	probably benign
R6359:Ccdc18	UTSW	5	108,283,391 (GRCm39)	missense	probably damaging	1.00
R6375:Ccdc18	UTSW	5	108,322,820 (GRCm39)	missense	possibly damaging	0.79
R6388:Ccdc18	UTSW	5	108,349,214 (GRCm39)	missense	possibly damaging	0.81
R6415:Ccdc18	UTSW	5	108,309,612 (GRCm39)	missense	probably benign	0.03
R6560:Ccdc18	UTSW	5	108,339,790 (GRCm39)	missense	probably benign	0.09
R6664:Ccdc18	UTSW	5	108,315,966 (GRCm39)	nonsense	probably null
R6836:Ccdc18	UTSW	5	108,345,833 (GRCm39)	missense	probably damaging	1.00
R6947:Ccdc18	UTSW	5	108,309,401 (GRCm39)	missense	probably benign	0.26
R7009:Ccdc18	UTSW	5	108,321,728 (GRCm39)	critical splice donor site	probably null
R7052:Ccdc18	UTSW	5	108,309,554 (GRCm39)	missense	probably benign	0.15
R7058:Ccdc18	UTSW	5	108,341,664 (GRCm39)	missense	probably benign
R7087:Ccdc18	UTSW	5	108,343,988 (GRCm39)	missense	probably benign
R7117:Ccdc18	UTSW	5	108,296,835 (GRCm39)	missense	possibly damaging	0.95
R7176:Ccdc18	UTSW	5	108,315,972 (GRCm39)	missense	probably benign
R7382:Ccdc18	UTSW	5	108,286,873 (GRCm39)	missense	probably damaging	1.00
R7477:Ccdc18	UTSW	5	108,368,716 (GRCm39)	missense	probably damaging	0.98
R7493:Ccdc18	UTSW	5	108,354,483 (GRCm39)	nonsense	probably null
R7506:Ccdc18	UTSW	5	108,311,605 (GRCm39)	missense	possibly damaging	0.85
R7635:Ccdc18	UTSW	5	108,376,915 (GRCm39)	critical splice donor site	probably null
R7690:Ccdc18	UTSW	5	108,376,528 (GRCm39)	missense	probably benign	0.00
R7748:Ccdc18	UTSW	5	108,296,907 (GRCm39)	critical splice donor site	probably null
R7812:Ccdc18	UTSW	5	108,328,699 (GRCm39)	missense	probably benign	0.00
R8017:Ccdc18	UTSW	5	108,376,511 (GRCm39)	nonsense	probably null
R8019:Ccdc18	UTSW	5	108,376,511 (GRCm39)	nonsense	probably null
R8172:Ccdc18	UTSW	5	108,311,640 (GRCm39)	critical splice donor site	probably null
R8177:Ccdc18	UTSW	5	108,345,661 (GRCm39)	missense	possibly damaging	0.65
R8344:Ccdc18	UTSW	5	108,309,369 (GRCm39)	missense	possibly damaging	0.88
R8351:Ccdc18	UTSW	5	108,303,663 (GRCm39)	missense	probably damaging	1.00
R8415:Ccdc18	UTSW	5	108,363,899 (GRCm39)	missense	probably damaging	1.00
R8451:Ccdc18	UTSW	5	108,303,663 (GRCm39)	missense	probably damaging	1.00
R8547:Ccdc18	UTSW	5	108,345,725 (GRCm39)	missense	probably damaging	1.00
R8725:Ccdc18	UTSW	5	108,328,283 (GRCm39)	missense	possibly damaging	0.66
R9137:Ccdc18	UTSW	5	108,296,856 (GRCm39)	missense	probably damaging	0.98
R9391:Ccdc18	UTSW	5	108,376,770 (GRCm39)	missense	probably benign	0.02
R9418:Ccdc18	UTSW	5	108,303,669 (GRCm39)	missense	probably damaging	1.00
R9536:Ccdc18	UTSW	5	108,286,792 (GRCm39)	missense	probably benign	0.01
R9565:Ccdc18	UTSW	5	108,339,800 (GRCm39)	missense	probably damaging	0.99
RF013:Ccdc18	UTSW	5	108,368,582 (GRCm39)	missense	probably benign	0.05
X0024:Ccdc18	UTSW	5	108,339,788 (GRCm39)	missense	probably benign	0.01
X0063:Ccdc18	UTSW	5	108,360,063 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CTATGACTGGAAAAGAATGTCTCAC -3'
(R):5'- GCAAGTGCTCTCTAACATATAAGC -3'

Sequencing Primer
(F):5'- ATGTCTCACATAATACTCCCTAATGC -3'
(R):5'- TCTGGTGCCTCTAAAGACAGCTG -3'

Posted On

2018-06-22