Mutagenetix > Incidental Mutation

Incidental Mutation 'R3056:Ccdc150'

265159

Institutional Source

Beutler Lab

Gene Symbol

Ccdc150

Ensembl Gene

ENSMUSG00000025983

Gene Name

coiled-coil domain containing 150

Synonyms

4930511H11Rik

MMRRC Submission

040565-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

R3056 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

54289842-54407886 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 54328001 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 361 (N361S)

Ref Sequence

ENSEMBL: ENSMUSP00000027128 (fasta)

Gene Model

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

AlphaFold

Q8CDI7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027128
AA Change: N361S

PolyPhen 2 Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000027128
Gene: ENSMUSG00000025983
AA Change: N361S

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

probably benign
Transcript: ENSMUST00000160472
AA Change: N361S

PolyPhen 2 Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000125195
Gene: ENSMUSG00000025983
AA Change: N361S

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

Meta Mutation Damage Score

0.0696

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm4	A	G	4: 144,401,268 (GRCm39)	I72T	probably benign	Het
Abca1	A	T	4: 53,127,626 (GRCm39)	M131K	probably benign	Het
Agbl1	C	T	7: 76,416,232 (GRCm39)	T751M	possibly damaging	Het
Asb14	A	G	14: 26,636,146 (GRCm39)	I510V	possibly damaging	Het
Bard1	A	G	1: 71,127,390 (GRCm39)	V73A	possibly damaging	Het
C6	T	C	15: 4,769,355 (GRCm39)	I187T	probably damaging	Het
Catsper3	T	C	13: 55,956,709 (GRCm39)	S376P	unknown	Het
Cntn5	A	G	9: 10,419,076 (GRCm39)	L7P	probably benign	Het
Cplane1	T	C	15: 8,280,491 (GRCm39)	S2805P	unknown	Het
Cxcr6	A	T	9: 123,639,529 (GRCm39)	I177F	probably damaging	Het
Dnah7b	A	G	1: 46,307,869 (GRCm39)	D3061G	possibly damaging	Het
Epas1	T	C	17: 87,138,409 (GRCm39)	F835S	probably damaging	Het
Fat3	C	T	9: 15,871,792 (GRCm39)	R3533H	probably benign	Het
Fxr1	A	G	3: 34,103,333 (GRCm39)	E221G	probably damaging	Het
Gpatch11	A	G	17: 79,151,272 (GRCm39)	T228A	probably damaging	Het
Greb1	G	T	12: 16,738,592 (GRCm39)	T1457K	probably damaging	Het
Ighm	T	A	12: 113,382,596 (GRCm39)		probably benign	Het
Ints12	G	A	3: 132,815,126 (GRCm39)	M444I	possibly damaging	Het
Lmx1b	G	A	2: 33,457,297 (GRCm39)	Q168*	probably null	Het
Ltbp3	C	A	19: 5,801,434 (GRCm39)	N659K	probably benign	Het
Micos13	A	G	17: 56,915,889 (GRCm39)	F55S	probably damaging	Het
Mrpl20	G	T	4: 155,888,329 (GRCm39)	V43F	possibly damaging	Het
Nlgn1	T	C	3: 25,487,860 (GRCm39)	N825S	possibly damaging	Het
Or5d36	T	A	2: 87,901,583 (GRCm39)	T48S	probably benign	Het
Or5p67	A	T	7: 107,922,757 (GRCm39)	V42E	possibly damaging	Het
Or8k3b	C	A	2: 86,520,896 (GRCm39)	C141F	possibly damaging	Het
Pccb	C	T	9: 100,912,250 (GRCm39)	R79Q	probably damaging	Het
Peg10	G	A	6: 4,755,029 (GRCm39)	R270H	possibly damaging	Het
Pttg1ip2	A	T	5: 5,507,283 (GRCm39)		probably null	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Slc4a4	T	C	5: 89,373,807 (GRCm39)	V971A	probably damaging	Het
Timm29	T	C	9: 21,504,887 (GRCm39)	M185T	probably damaging	Het
Tmem92	C	T	11: 94,669,873 (GRCm39)	C86Y	probably benign	Het
Tnfrsf8	C	T	4: 145,011,895 (GRCm39)		probably null	Het
Tnks1bp1	T	A	2: 84,900,344 (GRCm39)	C1433*	probably null	Het
Utp14b	T	A	1: 78,642,442 (GRCm39)	D113E	possibly damaging	Het
Vmn2r110	T	A	17: 20,803,360 (GRCm39)	Y405F	probably damaging	Het
Wiz	A	G	17: 32,576,671 (GRCm39)	S628P	probably benign	Het
Xrcc4	T	C	13: 90,210,196 (GRCm39)	T83A	probably benign	Het

Other mutations in Ccdc150

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00712:Ccdc150	APN	1	54,311,709 (GRCm39)	splice site	probably benign
IGL00819:Ccdc150	APN	1	54,302,732 (GRCm39)	missense	probably damaging	1.00
IGL01973:Ccdc150	APN	1	54,339,647 (GRCm39)	splice site	probably null
IGL02352:Ccdc150	APN	1	54,311,680 (GRCm39)	missense	probably benign	0.25
IGL02359:Ccdc150	APN	1	54,311,680 (GRCm39)	missense	probably benign	0.25
IGL02620:Ccdc150	APN	1	54,302,704 (GRCm39)	nonsense	probably null
IGL02673:Ccdc150	APN	1	54,368,149 (GRCm39)	missense	probably benign	0.09
IGL03148:Ccdc150	APN	1	54,317,874 (GRCm39)	missense	possibly damaging	0.68
IGL03185:Ccdc150	APN	1	54,339,482 (GRCm39)	missense	probably damaging	1.00
IGL03014:Ccdc150	UTSW	1	54,329,861 (GRCm39)	missense	probably damaging	0.99
R0066:Ccdc150	UTSW	1	54,395,850 (GRCm39)	missense	probably benign
R0066:Ccdc150	UTSW	1	54,395,850 (GRCm39)	missense	probably benign
R0217:Ccdc150	UTSW	1	54,339,589 (GRCm39)	missense	possibly damaging	0.87
R0582:Ccdc150	UTSW	1	54,368,670 (GRCm39)	missense	probably benign
R0687:Ccdc150	UTSW	1	54,324,790 (GRCm39)	splice site	probably null
R0790:Ccdc150	UTSW	1	54,316,935 (GRCm39)	splice site	probably benign
R1146:Ccdc150	UTSW	1	54,404,130 (GRCm39)	splice site	probably benign
R1288:Ccdc150	UTSW	1	54,403,617 (GRCm39)	missense	probably damaging	1.00
R1763:Ccdc150	UTSW	1	54,393,795 (GRCm39)	missense	probably benign	0.42
R1855:Ccdc150	UTSW	1	54,407,069 (GRCm39)	intron	probably benign
R1957:Ccdc150	UTSW	1	54,303,068 (GRCm39)	missense	probably benign	0.00
R2180:Ccdc150	UTSW	1	54,311,706 (GRCm39)	critical splice donor site	probably null
R2226:Ccdc150	UTSW	1	54,404,084 (GRCm39)	missense	probably null	0.11
R3054:Ccdc150	UTSW	1	54,328,001 (GRCm39)	missense	possibly damaging	0.51
R3055:Ccdc150	UTSW	1	54,328,001 (GRCm39)	missense	possibly damaging	0.51
R3409:Ccdc150	UTSW	1	54,395,932 (GRCm39)	missense	probably benign	0.02
R3411:Ccdc150	UTSW	1	54,395,932 (GRCm39)	missense	probably benign	0.02
R3812:Ccdc150	UTSW	1	54,407,469 (GRCm39)	missense	probably benign	0.00
R4031:Ccdc150	UTSW	1	54,317,970 (GRCm39)	missense	probably benign	0.31
R4356:Ccdc150	UTSW	1	54,392,213 (GRCm39)	missense	probably damaging	0.98
R4617:Ccdc150	UTSW	1	54,394,913 (GRCm39)	missense	probably benign	0.00
R4757:Ccdc150	UTSW	1	54,317,874 (GRCm39)	missense	possibly damaging	0.81
R4957:Ccdc150	UTSW	1	54,404,027 (GRCm39)	intron	probably benign
R5028:Ccdc150	UTSW	1	54,302,636 (GRCm39)	missense	probably benign	0.01
R5512:Ccdc150	UTSW	1	54,393,806 (GRCm39)	missense	probably damaging	0.96
R5757:Ccdc150	UTSW	1	54,302,779 (GRCm39)	missense	probably damaging	1.00
R5943:Ccdc150	UTSW	1	54,339,526 (GRCm39)	missense	probably benign	0.01
R5948:Ccdc150	UTSW	1	54,316,873 (GRCm39)	missense	possibly damaging	0.79
R6033:Ccdc150	UTSW	1	54,324,787 (GRCm39)	critical splice donor site	probably null
R6033:Ccdc150	UTSW	1	54,324,787 (GRCm39)	critical splice donor site	probably null
R6065:Ccdc150	UTSW	1	54,302,758 (GRCm39)	missense	possibly damaging	0.90
R6390:Ccdc150	UTSW	1	54,407,176 (GRCm39)	missense	probably benign	0.01
R6399:Ccdc150	UTSW	1	54,303,116 (GRCm39)	splice site	probably null
R6988:Ccdc150	UTSW	1	54,394,868 (GRCm39)	nonsense	probably null
R7248:Ccdc150	UTSW	1	54,344,057 (GRCm39)	missense	probably benign	0.00
R7319:Ccdc150	UTSW	1	54,302,496 (GRCm39)	splice site	probably null
R7322:Ccdc150	UTSW	1	54,299,125 (GRCm39)	missense	probably benign	0.01
R7366:Ccdc150	UTSW	1	54,339,541 (GRCm39)	nonsense	probably null
R7647:Ccdc150	UTSW	1	54,395,863 (GRCm39)	missense	probably damaging	1.00
R7981:Ccdc150	UTSW	1	54,407,551 (GRCm39)	missense	probably damaging	1.00
R8002:Ccdc150	UTSW	1	54,311,656 (GRCm39)	missense	probably damaging	0.99
R8201:Ccdc150	UTSW	1	54,368,646 (GRCm39)	missense	probably benign	0.10
R8688:Ccdc150	UTSW	1	54,407,132 (GRCm39)	missense	probably damaging	1.00
R8719:Ccdc150	UTSW	1	54,302,668 (GRCm39)	missense	probably benign	0.00
R8963:Ccdc150	UTSW	1	54,311,641 (GRCm39)	missense	probably benign	0.14
R9178:Ccdc150	UTSW	1	54,311,644 (GRCm39)	missense	probably damaging	0.99
R9200:Ccdc150	UTSW	1	54,299,197 (GRCm39)	missense	probably damaging	1.00
R9332:Ccdc150	UTSW	1	54,316,910 (GRCm39)	missense	probably damaging	0.99
R9367:Ccdc150	UTSW	1	54,324,760 (GRCm39)	missense	probably damaging	1.00
R9416:Ccdc150	UTSW	1	54,317,990 (GRCm39)	missense	probably damaging	0.97
R9430:Ccdc150	UTSW	1	54,320,930 (GRCm39)	missense	probably damaging	1.00
R9576:Ccdc150	UTSW	1	54,407,544 (GRCm39)	nonsense	probably null
R9747:Ccdc150	UTSW	1	54,299,107 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GGCTTCCATGATCAATAACTCATAG -3'
(R):5'- GTTCAGCATGCGATAAATGAAACTG -3'

Sequencing Primer
(F):5'- CCATGATCAATAACTCATAGGAAGG -3'
(R):5'- GCATGCGATAAATGAAACTGTTTTG -3'

Posted On

2015-02-05