Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03185:Ccdc150'

412439

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ccdc150

Ensembl Gene

ENSMUSG00000025983

Gene Name

coiled-coil domain containing 150

Synonyms

4930511H11Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

IGL03185

Quality Score

Status

Chromosome

Chromosomal Location

54250683-54368727 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 54300323 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 442 (E442G)

Ref Sequence

ENSEMBL: ENSMUSP00000125195 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000027128
AA Change: E442G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000027128
Gene: ENSMUSG00000025983
AA Change: E442G

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 damaging
Transcript: ENSMUST00000160472
AA Change: E442G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000125195
Gene: ENSMUSG00000025983
AA Change: E442G

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam15	T	C	3: 89,347,905	D77G	probably benign	Het
Ank2	C	A	3: 126,955,870	E503D	probably damaging	Het
Babam2	T	C	5: 31,702,032	I27T	possibly damaging	Het
BC027072	A	T	17: 71,749,337	I1115K	probably damaging	Het
Ccdc92	A	G	5: 124,835,950	Y172H	probably damaging	Het
Chl1	T	A	6: 103,665,863	D187E	probably damaging	Het
Col6a4	A	T	9: 106,019,454	F1721I	probably damaging	Het
Corin	C	T	5: 72,332,781	G542D	probably damaging	Het
Dennd1c	C	T	17: 57,066,803	D587N	probably benign	Het
Dnah10	A	G	5: 124,817,643	Y3424C	probably damaging	Het
Echdc1	T	A	10: 29,331,840	F127I	possibly damaging	Het
F13b	T	A	1: 139,516,386	V486E	probably benign	Het
Fkbp15	C	T	4: 62,332,186		probably null	Het
Glt8d2	T	A	10: 82,662,276	I100F	probably damaging	Het
Gm15448	A	G	7: 3,823,230	Y255H	probably damaging	Het
Gmip	C	T	8: 69,809,783	P10L	probably benign	Het
Grm7	T	C	6: 110,646,222	S119P	possibly damaging	Het
Kdelc1	G	A	1: 44,117,199	S76L	probably benign	Het
Klf4	T	C	4: 55,530,911	T58A	possibly damaging	Het
Mink1	T	C	11: 70,603,860	I289T	probably damaging	Het
Mptx2	A	T	1: 173,274,789	V111D	possibly damaging	Het
Muc5b	A	T	7: 141,862,822	E3168D	possibly damaging	Het
Mylk3	C	A	8: 85,327,204	V695F	probably damaging	Het
Olfr736	C	A	14: 50,393,398	T214K	probably damaging	Het
Olfr836	T	A	9: 19,121,738	V258E	probably damaging	Het
Pprc1	C	A	19: 46,069,747		probably benign	Het
Prkaa2	C	T	4: 105,039,721		probably null	Het
Prss50	A	G	9: 110,858,211	Y74C	probably benign	Het
Rnf145	T	C	11: 44,531,330	L80P	probably damaging	Het
Serpinb3b	T	C	1: 107,156,932	I120V	probably benign	Het
Sgca	T	C	11: 94,970,784	M212V	probably benign	Het
Slc1a6	T	A	10: 78,801,907	D422E	probably damaging	Het
Slc30a9	A	G	5: 67,333,063	R226G	probably benign	Het
Slc5a11	A	G	7: 123,265,189	D336G	possibly damaging	Het
Slfn8	T	C	11: 83,017,507	H70R	probably benign	Het
Stoml2	T	C	4: 43,029,065	N269S	probably benign	Het
Synrg	A	G	11: 83,981,479	E142G	probably damaging	Het
Thbs2	G	A	17: 14,681,410	Q436*	probably null	Het
Tyk2	T	C	9: 21,109,384	N917S	probably damaging	Het
Zfhx4	C	A	3: 5,403,914	T3069K	probably benign	Het
Zfp446	G	T	7: 12,978,998	V88F	probably null	Het
Zp3	A	G	5: 135,982,721	N131S	possibly 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
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
R2180:Ccdc150	UTSW	1	54272547	critical splice donor site	probably null
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	splice site	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
R7981:Ccdc150	UTSW	1	54368392	missense	probably damaging	1.00
R8002:Ccdc150	UTSW	1	54272497	missense	probably damaging	0.99
R8201:Ccdc150	UTSW	1	54329487	missense	probably benign	0.10

Posted On

2016-08-02