Mutagenetix > Incidental Mutation

Incidental Mutation 'R0066:Ccdc150'

17362

Institutional Source

Beutler Lab

Gene Symbol

Ccdc150

Ensembl Gene

ENSMUSG00000025983

Gene Name

coiled-coil domain containing 150

Synonyms

4930511H11Rik

MMRRC Submission

038357-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R0066 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

54250683-54368727 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 54356691 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 778 (I778V)

Ref Sequence

ENSEMBL: ENSMUSP00000027128 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027128] [ENSMUST00000160472]

AlphaFold

Q8CDI7

Predicted Effect

probably benign
Transcript: ENSMUST00000027128
AA Change: I778V

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

SMART Domains

Protein: ENSMUSP00000027128
Gene: ENSMUSG00000025983
AA Change: I778V

Domain	Start	End	E-Value	Type
coiled coil region	160	250	N/A	INTRINSIC
coiled coil region	288	314	N/A	INTRINSIC
coiled coil region	418	676	N/A	INTRINSIC
coiled coil region	727	952	N/A	INTRINSIC
coiled coil region	985	1048	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159682

Predicted Effect

probably benign
Transcript: ENSMUST00000160472

SMART Domains

Protein: ENSMUSP00000125195
Gene: ENSMUSG00000025983

Domain	Start	End	E-Value	Type
coiled coil region	160	250	N/A	INTRINSIC
coiled coil region	288	314	N/A	INTRINSIC
coiled coil region	418	551	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163072

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 89.0%
3x: 85.6%
10x: 75.4%
20x: 57.8%

Validation Efficiency

94% (112/119)

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810064F22Rik	A	G	9: 22,207,881 (GRCm38)		noncoding transcript	Het
Aco2	T	C	15: 81,903,465 (GRCm38)		probably benign	Het
Arsa	T	A	15: 89,474,336 (GRCm38)	M288L	possibly damaging	Het
Atg2b	A	T	12: 105,648,449 (GRCm38)	D1074E	probably benign	Het
Baiap2l1	A	T	5: 144,284,562 (GRCm38)	I174N	probably damaging	Het
Bptf	A	G	11: 107,062,136 (GRCm38)	V199A	possibly damaging	Het
Btn2a2	T	A	13: 23,478,485 (GRCm38)	I432L	probably benign	Het
Cd200r2	G	A	16: 44,909,674 (GRCm38)	V194I	possibly damaging	Het
Cep350	A	C	1: 155,911,218 (GRCm38)	L1421R	probably damaging	Het
Col6a6	A	T	9: 105,702,213 (GRCm38)	C1938S	probably damaging	Het
Cspg4	A	T	9: 56,888,134 (GRCm38)	D1051V	probably damaging	Het
Cstf1	T	A	2: 172,373,056 (GRCm38)	N32K	probably benign	Het
Ctrb1	G	A	8: 111,686,637 (GRCm38)	R248*	probably null	Het
Cyp2d11	T	A	15: 82,391,757 (GRCm38)	M208L	probably benign	Het
Dbt	A	G	3: 116,543,829 (GRCm38)	Q334R	probably benign	Het
Dcaf12	A	G	4: 41,298,338 (GRCm38)	V270A	probably damaging	Het
Dis3l	T	A	9: 64,319,165 (GRCm38)	N361I	probably benign	Het
Dnm3	A	G	1: 162,407,361 (GRCm38)	V70A	probably damaging	Het
Dpy19l2	G	A	9: 24,646,383 (GRCm38)		probably benign	Het
Dst	C	A	1: 34,189,553 (GRCm38)	H2254N	possibly damaging	Het
Eif2b1	T	G	5: 124,573,795 (GRCm38)		probably null	Het
Epm2aip1	A	G	9: 111,272,463 (GRCm38)	N168S	probably benign	Het
Fchsd2	A	G	7: 101,278,424 (GRCm38)	Y691C	possibly damaging	Het
Fndc8	A	T	11: 82,897,572 (GRCm38)	D76V	probably benign	Het
Frmd4a	T	C	2: 4,473,152 (GRCm38)	L48P	probably damaging	Het
Gimap6	T	A	6: 48,702,470 (GRCm38)	I211F	probably damaging	Het
Gm15130	A	G	2: 111,138,939 (GRCm38)		probably benign	Het
Gm19618	A	T	6: 87,714,245 (GRCm38)			Het
Gpatch1	G	A	7: 35,287,227 (GRCm38)	S768L	probably damaging	Het
Grb14	T	G	2: 64,938,492 (GRCm38)		probably null	Het
Hnrnpd	T	C	5: 99,964,701 (GRCm38)	E222G	probably damaging	Het
Ighv1-4	A	G	12: 114,487,369 (GRCm38)	S40P	possibly damaging	Het
Kcnh4	T	C	11: 100,757,800 (GRCm38)	H26R	probably benign	Het
Kctd2	T	G	11: 115,429,517 (GRCm38)		probably benign	Het
Macf1	G	A	4: 123,432,150 (GRCm38)	Q3066*	probably null	Het
Mfn2	G	A	4: 147,885,445 (GRCm38)		probably benign	Het
Mmab	T	C	5: 114,436,465 (GRCm38)		probably benign	Het
Mrc1	T	C	2: 14,261,200 (GRCm38)	S310P	probably benign	Het
Mrps21	T	C	3: 95,862,885 (GRCm38)	Y44C	probably null	Het
Myh10	T	A	11: 68,699,491 (GRCm38)	F121Y	probably damaging	Het
Myo1f	A	G	17: 33,601,703 (GRCm38)	D840G	probably damaging	Het
Nol6	G	T	4: 41,119,572 (GRCm38)		probably benign	Het
Ntsr2	T	C	12: 16,654,119 (GRCm38)	I207T	probably benign	Het
Nwd1	T	A	8: 72,711,856 (GRCm38)	S1552T	probably benign	Het
Olfr736	T	A	14: 50,393,202 (GRCm38)	F149I	probably benign	Het
Pkd1l3	G	T	8: 109,620,471 (GRCm38)	G159C	unknown	Het
Plcb4	T	C	2: 135,961,769 (GRCm38)	S521P	probably benign	Het
Plcl1	A	T	1: 55,713,475 (GRCm38)	I993F	probably damaging	Het
Plekha7	T	C	7: 116,157,508 (GRCm38)	S640G	probably damaging	Het
Ptprn2	A	C	12: 117,276,602 (GRCm38)	N993T	probably benign	Het
Reck	A	G	4: 43,930,936 (GRCm38)	N646D	probably damaging	Het
Rfx2	A	T	17: 56,786,736 (GRCm38)		probably benign	Het
Ripk2	G	A	4: 16,123,868 (GRCm38)	Q436*	probably null	Het
Ryr1	C	T	7: 29,005,567 (GRCm38)		probably benign	Het
Sema6b	A	G	17: 56,128,271 (GRCm38)	V324A	possibly damaging	Het
Sik2	C	A	9: 50,998,533 (GRCm38)	M73I	probably benign	Het
Slc39a6	T	C	18: 24,599,269 (GRCm38)	K321E	probably damaging	Het
Slc7a4	C	A	16: 17,574,011 (GRCm38)	V520F	probably benign	Het
Sptan1	C	A	2: 30,003,667 (GRCm38)		probably benign	Het
Stab1	C	T	14: 31,157,070 (GRCm38)		probably benign	Het
Tbc1d17	C	T	7: 44,844,071 (GRCm38)		probably benign	Het
Tbcd	T	A	11: 121,503,764 (GRCm38)	L49*	probably null	Het
Tulp4	A	T	17: 6,201,733 (GRCm38)	N60I	probably damaging	Het
Ubqlnl	A	T	7: 104,148,938 (GRCm38)	W451R	probably damaging	Het
Usp53	G	T	3: 122,953,307 (GRCm38)	C363*	probably null	Het
Utp4	A	G	8: 106,922,898 (GRCm38)	T660A	possibly damaging	Het
Vmn1r194	A	T	13: 22,244,471 (GRCm38)	Y86F	probably benign	Het
Vmn1r195	A	T	13: 22,279,239 (GRCm38)	H293L	possibly damaging	Het
Vmn1r231	T	C	17: 20,889,736 (GRCm38)	R306G	probably benign	Het
Vmn2r77	T	C	7: 86,800,756 (GRCm38)	V70A	probably benign	Het
Vps8	A	G	16: 21,477,523 (GRCm38)	E515G	possibly damaging	Het
Wdr18	C	A	10: 79,961,103 (GRCm38)	Y104*	probably null	Het
Xab2	A	T	8: 3,613,880 (GRCm38)	N346K	probably damaging	Het
Zdhhc12	C	T	2: 30,092,535 (GRCm38)	R50H	probably damaging	Het
Zdhhc8	A	G	16: 18,225,200 (GRCm38)	S379P	probably benign	Het

Other mutations in Ccdc150

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00712:Ccdc150	APN	1	54,272,550 (GRCm38)	splice site	probably benign
IGL00819:Ccdc150	APN	1	54,263,573 (GRCm38)	missense	probably damaging	1.00
IGL01973:Ccdc150	APN	1	54,300,488 (GRCm38)	splice site	probably null
IGL02352:Ccdc150	APN	1	54,272,521 (GRCm38)	missense	probably benign	0.25
IGL02359:Ccdc150	APN	1	54,272,521 (GRCm38)	missense	probably benign	0.25
IGL02620:Ccdc150	APN	1	54,263,545 (GRCm38)	nonsense	probably null
IGL02673:Ccdc150	APN	1	54,328,990 (GRCm38)	missense	probably benign	0.09
IGL03148:Ccdc150	APN	1	54,278,715 (GRCm38)	missense	possibly damaging	0.68
IGL03185:Ccdc150	APN	1	54,300,323 (GRCm38)	missense	probably damaging	1.00
IGL03014:Ccdc150	UTSW	1	54,290,702 (GRCm38)	missense	probably damaging	0.99
R0066:Ccdc150	UTSW	1	54,356,691 (GRCm38)	missense	probably benign
R0217:Ccdc150	UTSW	1	54,300,430 (GRCm38)	missense	possibly damaging	0.87
R0582:Ccdc150	UTSW	1	54,329,511 (GRCm38)	missense	probably benign
R0687:Ccdc150	UTSW	1	54,285,631 (GRCm38)	splice site	probably null
R0790:Ccdc150	UTSW	1	54,277,776 (GRCm38)	splice site	probably benign
R1146:Ccdc150	UTSW	1	54,364,971 (GRCm38)	splice site	probably benign
R1288:Ccdc150	UTSW	1	54,364,458 (GRCm38)	missense	probably damaging	1.00
R1763:Ccdc150	UTSW	1	54,354,636 (GRCm38)	missense	probably benign	0.42
R1855:Ccdc150	UTSW	1	54,367,910 (GRCm38)	intron	probably benign
R1957:Ccdc150	UTSW	1	54,263,909 (GRCm38)	missense	probably benign	0.00
R2180:Ccdc150	UTSW	1	54,272,547 (GRCm38)	critical splice donor site	probably null
R2226:Ccdc150	UTSW	1	54,364,925 (GRCm38)	missense	probably null	0.11
R3054:Ccdc150	UTSW	1	54,288,842 (GRCm38)	missense	possibly damaging	0.51
R3055:Ccdc150	UTSW	1	54,288,842 (GRCm38)	missense	possibly damaging	0.51
R3056:Ccdc150	UTSW	1	54,288,842 (GRCm38)	missense	possibly damaging	0.51
R3409:Ccdc150	UTSW	1	54,356,773 (GRCm38)	missense	probably benign	0.02
R3411:Ccdc150	UTSW	1	54,356,773 (GRCm38)	missense	probably benign	0.02
R3812:Ccdc150	UTSW	1	54,368,310 (GRCm38)	missense	probably benign	0.00
R4031:Ccdc150	UTSW	1	54,278,811 (GRCm38)	missense	probably benign	0.31
R4356:Ccdc150	UTSW	1	54,353,054 (GRCm38)	missense	probably damaging	0.98
R4617:Ccdc150	UTSW	1	54,355,754 (GRCm38)	missense	probably benign	0.00
R4757:Ccdc150	UTSW	1	54,278,715 (GRCm38)	missense	possibly damaging	0.81
R4957:Ccdc150	UTSW	1	54,364,868 (GRCm38)	intron	probably benign
R5028:Ccdc150	UTSW	1	54,263,477 (GRCm38)	missense	probably benign	0.01
R5512:Ccdc150	UTSW	1	54,354,647 (GRCm38)	missense	probably damaging	0.96
R5757:Ccdc150	UTSW	1	54,263,620 (GRCm38)	missense	probably damaging	1.00
R5943:Ccdc150	UTSW	1	54,300,367 (GRCm38)	missense	probably benign	0.01
R5948:Ccdc150	UTSW	1	54,277,714 (GRCm38)	missense	possibly damaging	0.79
R6033:Ccdc150	UTSW	1	54,285,628 (GRCm38)	critical splice donor site	probably null
R6033:Ccdc150	UTSW	1	54,285,628 (GRCm38)	critical splice donor site	probably null
R6065:Ccdc150	UTSW	1	54,263,599 (GRCm38)	missense	possibly damaging	0.90
R6390:Ccdc150	UTSW	1	54,368,017 (GRCm38)	missense	probably benign	0.01
R6399:Ccdc150	UTSW	1	54,263,957 (GRCm38)	splice site	probably null
R6988:Ccdc150	UTSW	1	54,355,709 (GRCm38)	nonsense	probably null
R7248:Ccdc150	UTSW	1	54,304,898 (GRCm38)	missense	probably benign	0.00
R7319:Ccdc150	UTSW	1	54,263,337 (GRCm38)	splice site	probably null
R7322:Ccdc150	UTSW	1	54,259,966 (GRCm38)	missense	probably benign	0.01
R7366:Ccdc150	UTSW	1	54,300,382 (GRCm38)	nonsense	probably null
R7647:Ccdc150	UTSW	1	54,356,704 (GRCm38)	missense	probably damaging	1.00
R7981:Ccdc150	UTSW	1	54,368,392 (GRCm38)	missense	probably damaging	1.00
R8002:Ccdc150	UTSW	1	54,272,497 (GRCm38)	missense	probably damaging	0.99
R8201:Ccdc150	UTSW	1	54,329,487 (GRCm38)	missense	probably benign	0.10
R8688:Ccdc150	UTSW	1	54,367,973 (GRCm38)	missense	probably damaging	1.00
R8719:Ccdc150	UTSW	1	54,263,509 (GRCm38)	missense	probably benign	0.00
R8963:Ccdc150	UTSW	1	54,272,482 (GRCm38)	missense	probably benign	0.14
R9178:Ccdc150	UTSW	1	54,272,485 (GRCm38)	missense	probably damaging	0.99
R9200:Ccdc150	UTSW	1	54,260,038 (GRCm38)	missense	probably damaging	1.00
R9332:Ccdc150	UTSW	1	54,277,751 (GRCm38)	missense	probably damaging	0.99
R9367:Ccdc150	UTSW	1	54,285,601 (GRCm38)	missense	probably damaging	1.00
R9416:Ccdc150	UTSW	1	54,278,831 (GRCm38)	missense	probably damaging	0.97
R9430:Ccdc150	UTSW	1	54,281,771 (GRCm38)	missense	probably damaging	1.00
R9576:Ccdc150	UTSW	1	54,368,385 (GRCm38)	nonsense	probably null
R9747:Ccdc150	UTSW	1	54,259,948 (GRCm38)	nonsense	probably null

Posted On

2013-01-20