Mutagenetix > Incidental Mutation

Incidental Mutation 'R5948:Ccdc150'

472267

Institutional Source

Beutler Lab

Gene Symbol

Ccdc150

Ensembl Gene

ENSMUSG00000025983

Gene Name

coiled-coil domain containing 150

Synonyms

4930511H11Rik

MMRRC Submission

043244-MU

Accession Numbers

Essential gene?

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

Stock #

R5948 (G1)

Quality Score

182

Status

Not validated

Chromosome

Chromosomal Location

54289842-54407886 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 54316873 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 251 (S251P)

Ref Sequence

ENSEMBL: ENSMUSP00000125195 (fasta)

Gene Model

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

AlphaFold

Q8CDI7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027128
AA Change: S251P

PolyPhen 2 Score 0.542 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000027128
Gene: ENSMUSG00000025983
AA Change: S251P

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

possibly damaging
Transcript: ENSMUST00000160472
AA Change: S251P

PolyPhen 2 Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000125195
Gene: ENSMUSG00000025983
AA Change: S251P

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: ENSMUST00000161988

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adad1	T	C	3: 37,137,504 (GRCm39)		probably null	Het
Adam8	G	T	7: 139,567,797 (GRCm39)	D341E	probably benign	Het
Ankrd6	T	C	4: 32,817,075 (GRCm39)	T351A	possibly damaging	Het
Cfh	T	C	1: 140,036,546 (GRCm39)	N629S	probably damaging	Het
Col4a2	T	C	8: 11,470,600 (GRCm39)	S453P	probably benign	Het
Csf2	T	C	11: 54,138,514 (GRCm39)	D109G	probably benign	Het
Dapk1	C	A	13: 60,877,209 (GRCm39)	H483N	probably damaging	Het
Dnah7c	T	G	1: 46,711,657 (GRCm39)	I2628R	probably benign	Het
Dsp	T	C	13: 38,379,377 (GRCm39)	Y2041H	possibly damaging	Het
Dusp10	A	G	1: 183,801,073 (GRCm39)	N280S	probably benign	Het
Efhc1	T	A	1: 21,043,052 (GRCm39)	Y324N	probably damaging	Het
Epsti1	T	C	14: 78,177,330 (GRCm39)	L170P	probably damaging	Het
Fbn2	C	T	18: 58,170,121 (GRCm39)	G2217R	probably damaging	Het
Fryl	A	G	5: 73,254,715 (GRCm39)		probably null	Het
Mrpl39	T	C	16: 84,522,041 (GRCm39)	N244D	probably benign	Het
Nptxr	C	T	15: 79,674,042 (GRCm39)	A445T	probably benign	Het
Or1j15	A	G	2: 36,459,363 (GRCm39)	Y251C	probably damaging	Het
Otud3	A	G	4: 138,624,925 (GRCm39)	Y259H	probably benign	Het
Parvb	G	A	15: 84,187,662 (GRCm39)	V257M	probably damaging	Het
Piezo1	T	C	8: 123,210,086 (GRCm39)	E2258G	probably benign	Het
Prpf8	A	G	11: 75,400,015 (GRCm39)	E2303G	possibly damaging	Het
Psmc6	A	G	14: 45,572,114 (GRCm39)	D88G	probably benign	Het
Rbbp6	C	T	7: 122,596,851 (GRCm39)	T701I	probably damaging	Het
Rtl1	T	A	12: 109,557,033 (GRCm39)	D1602V	possibly damaging	Het
Rubcnl	T	C	14: 75,285,056 (GRCm39)	L525P	probably damaging	Het
Sbf2	T	C	7: 110,088,492 (GRCm39)	D73G	probably damaging	Het
Sh3tc2	T	A	18: 62,146,176 (GRCm39)	M1185K	probably damaging	Het
Shank2	A	G	7: 143,960,960 (GRCm39)	K469E	probably damaging	Het
Ttc41	T	C	10: 86,549,088 (GRCm39)	L94P	probably damaging	Het
Ttf1	G	A	2: 28,963,932 (GRCm39)	A603T	possibly damaging	Het
Usp9y	A	T	Y: 1,324,996 (GRCm39)	H1686Q	possibly damaging	Het
Vps37a	A	G	8: 40,993,752 (GRCm39)	E249G	possibly damaging	Het
Zfp273	A	G	13: 67,973,918 (GRCm39)	I316V	probably benign	Het
Zfp600	T	A	4: 146,131,645 (GRCm39)	N104K	probably damaging	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
R3056: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
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'- TTCACTTTGAGGGAGAAACAAGC -3'
(R):5'- TGAGAATGCTGACAGGCTAC -3'

Sequencing Primer
(F):5'- ACAAGCATGTTTGAGAGTGATTCG -3'
(R):5'- AATGCTGACAGGCTACTAAGG -3'

Posted On

2017-03-31