Mutagenetix > Incidental Mutations

Incidental Mutation 'R2180:Ccdc150'

237093

Institutional Source

Beutler Lab

Gene Symbol

Ccdc150

Ensembl Gene

ENSMUSG00000025983

Gene Name

coiled-coil domain containing 150

Synonyms

4930511H11Rik

MMRRC Submission

040182-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R2180 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

54250683-54368727 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 54272547 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000027128 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000027128

SMART Domains

Protein: ENSMUSP00000027128
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	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

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: ENSMUST00000161988

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110017D15Rik	T	A	4: 41,507,170	M209L	probably benign	Het
Adamts5	T	C	16: 85,887,924	D377G	probably damaging	Het
Adgrl4	A	T	3: 151,500,142	I164F	probably damaging	Het
Anxa9	T	C	3: 95,306,424		probably null	Het
Aox4	A	T	1: 58,213,067	T34S	probably benign	Het
Asic1	G	T	15: 99,671,965	V56F	probably benign	Het
Atpaf1	T	C	4: 115,788,360	M1T	probably null	Het
Axin1	A	G	17: 26,143,335	T218A	probably benign	Het
BC049762	C	A	11: 51,254,610	W50L	probably damaging	Het
Bdp1	ATTCTTCTTCTTCTTCTTC	ATTCTTCTTCTTCTTCTTCTTC	13: 100,061,405		probably benign	Het
Birc6	T	C	17: 74,612,151	I1988T	probably benign	Het
Btbd7	A	T	12: 102,785,897	D869E	probably damaging	Het
Caln1	T	C	5: 130,839,408	*220Q	probably null	Het
Ccnt1	A	T	15: 98,543,600	S596T	possibly damaging	Het
Cd44	C	T	2: 102,828,610	G640E	possibly damaging	Het
Cep192	A	G	18: 67,824,742	E582G	possibly damaging	Het
Clcnkb	G	T	4: 141,409,508		probably null	Het
Dhx29	T	C	13: 112,962,872		probably null	Het
Dnah8	T	C	17: 30,840,647	F4407S	probably benign	Het
Enah	A	T	1: 181,918,459	M419K	probably damaging	Het
Fam129a	A	T	1: 151,718,078	H838L	probably benign	Het
Fancd2	A	T	6: 113,574,637	T1055S	probably benign	Het
Gigyf2	G	A	1: 87,416,920	G525D	probably damaging	Het
Gm5800	T	A	14: 51,715,994	K55*	probably null	Het
Gpr149	A	G	3: 62,604,068	L170P	probably damaging	Het
Grik4	A	T	9: 42,542,005	Y695N	probably benign	Het
Gsg1	A	T	6: 135,240,145	V228D	probably damaging	Het
Helb	G	A	10: 120,105,448	T445M	probably benign	Het
Helz2	A	T	2: 181,233,732	D1656E	probably damaging	Het
Hyou1	A	T	9: 44,388,019	K669M	probably benign	Het
Itga2	T	C	13: 114,849,381	N953D	possibly damaging	Het
Ldhd	T	C	8: 111,629,386	I122V	probably benign	Het
Lrrtm1	A	G	6: 77,244,346	D262G	probably damaging	Het
Mapkapk5	T	C	5: 121,535,864		probably null	Het
Numa1	T	C	7: 101,999,990	I976T	probably benign	Het
Olfr1307	A	G	2: 111,945,003	V151A	probably benign	Het
Olfr417	A	G	1: 174,369,401	I161M	probably damaging	Het
Olfr446	C	T	6: 42,927,525	T98I	probably benign	Het
Olfr677	T	C	7: 105,056,885	I213T	probably benign	Het
Patj	G	A	4: 98,523,502		probably null	Het
Pfas	T	C	11: 68,992,187	D757G	possibly damaging	Het
Pom121l2	A	G	13: 21,981,975	N139D	probably benign	Het
Ppp2r3a	A	T	9: 101,127,015	Y994*	probably null	Het
Ppp6c	T	C	2: 39,197,513	D227G	probably benign	Het
Ptpn13	T	G	5: 103,569,558	H1855Q	probably damaging	Het
Ptprh	T	A	7: 4,601,868	Q59L	probably benign	Het
Rap1gap2	T	C	11: 74,393,146	K669E	probably benign	Het
Rbl2	T	C	8: 91,090,055	S348P	possibly damaging	Het
Rptor	T	A	11: 119,725,144	N161K	probably damaging	Het
Satb1	C	T	17: 51,803,496	A192T	probably damaging	Het
Scn5a	A	G	9: 119,516,051	V1083A	probably benign	Het
Sec14l2	C	T	11: 4,108,964	A194T	probably damaging	Het
Sema4b	A	G	7: 80,212,835	N53S	probably benign	Het
Sin3b	T	A	8: 72,753,295	Y876*	probably null	Het
Smchd1	C	A	17: 71,463,799	M129I	probably benign	Het
Tmc1	T	C	19: 20,824,084	Y484C	probably damaging	Het
Utp20	A	G	10: 88,820,939	S135P	probably damaging	Het
Zfp266	A	T	9: 20,499,679	C401S	probably damaging	Het
Zfp738	G	A	13: 67,671,194	T226I	probably damaging	Het
Zfp871	G	A	17: 32,775,301	T300M	probably damaging	Het

Other mutations in Ccdc150

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00712:Ccdc150	APN	1	54272550	splice site	probably benign
IGL00819:Ccdc150	APN	1	54263573	missense	probably damaging	1.00
IGL01973:Ccdc150	APN	1	54300488	splice site	probably null
IGL02352:Ccdc150	APN	1	54272521	missense	probably benign	0.25
IGL02359:Ccdc150	APN	1	54272521	missense	probably benign	0.25
IGL02620:Ccdc150	APN	1	54263545	nonsense	probably null
IGL02673:Ccdc150	APN	1	54328990	missense	probably benign	0.09
IGL03148:Ccdc150	APN	1	54278715	missense	possibly damaging	0.68
IGL03185:Ccdc150	APN	1	54300323	missense	probably damaging	1.00
IGL03014:Ccdc150	UTSW	1	54290702	missense	probably damaging	0.99
R0066:Ccdc150	UTSW	1	54356691	missense	probably benign
R0066:Ccdc150	UTSW	1	54356691	missense	probably benign
R0217:Ccdc150	UTSW	1	54300430	missense	possibly damaging	0.87
R0582:Ccdc150	UTSW	1	54329511	missense	probably benign
R0687:Ccdc150	UTSW	1	54285631	splice site	probably null
R0790:Ccdc150	UTSW	1	54277776	splice site	probably benign
R1146:Ccdc150	UTSW	1	54364971	splice site	probably benign
R1288:Ccdc150	UTSW	1	54364458	missense	probably damaging	1.00
R1763:Ccdc150	UTSW	1	54354636	missense	probably benign	0.42
R1855:Ccdc150	UTSW	1	54367910	intron	probably benign
R1957:Ccdc150	UTSW	1	54263909	missense	probably benign	0.00
R2226:Ccdc150	UTSW	1	54364925	missense	probably null	0.11
R3054:Ccdc150	UTSW	1	54288842	missense	possibly damaging	0.51
R3055:Ccdc150	UTSW	1	54288842	missense	possibly damaging	0.51
R3056:Ccdc150	UTSW	1	54288842	missense	possibly damaging	0.51
R3409:Ccdc150	UTSW	1	54356773	missense	probably benign	0.02
R3411:Ccdc150	UTSW	1	54356773	missense	probably benign	0.02
R3812:Ccdc150	UTSW	1	54368310	missense	probably benign	0.00
R4031:Ccdc150	UTSW	1	54278811	missense	probably benign	0.31
R4356:Ccdc150	UTSW	1	54353054	missense	probably damaging	0.98
R4617:Ccdc150	UTSW	1	54355754	missense	probably benign	0.00
R4757:Ccdc150	UTSW	1	54278715	missense	possibly damaging	0.81
R4957:Ccdc150	UTSW	1	54364868	intron	probably benign
R5028:Ccdc150	UTSW	1	54263477	missense	probably benign	0.01
R5512:Ccdc150	UTSW	1	54354647	missense	probably damaging	0.96
R5757:Ccdc150	UTSW	1	54263620	missense	probably damaging	1.00
R5943:Ccdc150	UTSW	1	54300367	missense	probably benign	0.01
R5948:Ccdc150	UTSW	1	54277714	missense	possibly damaging	0.79
R6033:Ccdc150	UTSW	1	54285628	critical splice donor site	probably null
R6033:Ccdc150	UTSW	1	54285628	critical splice donor site	probably null
R6065:Ccdc150	UTSW	1	54263599	missense	possibly damaging	0.90
R6390:Ccdc150	UTSW	1	54368017	missense	probably benign	0.01
R6399:Ccdc150	UTSW	1	54263957	splice site	probably null
R6988:Ccdc150	UTSW	1	54355709	nonsense	probably null
R7248:Ccdc150	UTSW	1	54304898	missense	probably benign	0.00
R7319:Ccdc150	UTSW	1	54263337	intron	probably null
R7322:Ccdc150	UTSW	1	54259966	missense	probably benign	0.01
R7366:Ccdc150	UTSW	1	54300382	nonsense	probably null
R7647:Ccdc150	UTSW	1	54356704	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTGCATTTATACACTGCCAGG -3'
(R):5'- GCTCAGCAGGGCTTATTTTG -3'

Sequencing Primer
(F):5'- TTTATACACTGCCAGGGAACAAG -3'
(R):5'- TGGCAGTTTTGACACATAAGAACACC -3'

Posted On

2014-10-02