Mutagenetix > Incidental Mutations

Incidental Mutation 'R4031:Ccdc150'

313467

Institutional Source

Beutler Lab

Gene Symbol

Ccdc150

Ensembl Gene

ENSMUSG00000025983

Gene Name

coiled-coil domain containing 150

Synonyms

4930511H11Rik

MMRRC Submission

040960-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R4031 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

54250683-54368727 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 54278811 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 303 (M303K)

Ref Sequence

ENSEMBL: ENSMUSP00000125195 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000027128
AA Change: M303K

PolyPhen 2 Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000027128
Gene: ENSMUSG00000025983
AA Change: M303K

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: M303K

PolyPhen 2 Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000125195
Gene: ENSMUSG00000025983
AA Change: M303K

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 93.7%

Validation Efficiency

95% (52/55)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	G	T	8: 86,517,448	F1025L	probably damaging	Het
Acss2	C	T	2: 155,557,210	T477I	probably damaging	Het
Aplp2	G	A	9: 31,157,730	P601L	probably benign	Het
Arl2bp	T	C	8: 94,667,653	I32T	probably damaging	Het
Avpi1	C	A	19: 42,124,741		probably benign	Het
C030005K15Rik	T	C	10: 97,725,542	Y109C	unknown	Het
Chrna5	T	C	9: 54,998,086	W61R	probably damaging	Het
Copa	T	C	1: 172,108,375	V428A	probably damaging	Het
Crybb3	A	G	5: 113,079,869	Y29H	probably damaging	Het
Dcun1d4	A	G	5: 73,534,637	D89G	probably damaging	Het
Disp2	T	C	2: 118,791,880	I1031T	probably benign	Het
Elf1	A	C	14: 79,569,283	K161Q	probably damaging	Het
Fndc1	A	T	17: 7,769,752	Y1159*	probably null	Het
Hspa12a	T	C	19: 58,800,857	N449S	probably benign	Het
Hyal4	A	G	6: 24,756,224	E147G	probably damaging	Het
Hydin	T	C	8: 110,610,047	I5152T	probably benign	Het
Ighv9-1	C	T	12: 114,094,224	A19T	probably benign	Het
Kcnt1	T	G	2: 25,916,048	S1216R	possibly damaging	Het
Kdm5d	T	A	Y: 916,910	V435E	probably damaging	Het
Klhl30	G	A	1: 91,361,157	R546H	probably benign	Het
Lrp1b	C	T	2: 40,702,848	G3753D	probably benign	Het
Ltbp3	G	A	19: 5,754,022	R854Q	probably benign	Het
Macf1	A	G	4: 123,381,312	L6303P	probably damaging	Het
Mblac2	T	C	13: 81,750,089	S195P	possibly damaging	Het
Mindy3	A	C	2: 12,401,083		probably null	Het
Neurod1	C	T	2: 79,454,026	D338N	probably benign	Het
Polr1e	A	T	4: 45,018,685	E5V	probably benign	Het
Polr2b	G	A	5: 77,348,405	R1141H	possibly damaging	Het
Ppp2r2a	T	C	14: 67,028,976	S79G	probably damaging	Het
Psmd2	G	A	16: 20,663,205	G896D	probably damaging	Het
Rap1gds1	T	C	3: 139,050,592		probably benign	Het
Rsph10b	A	G	5: 143,985,668		probably null	Het
Slc26a10	A	G	10: 127,178,002	V297A	possibly damaging	Het
Slc26a5	T	C	5: 21,847,191	K47E	probably damaging	Het
Slurp1	T	C	15: 74,727,487	E58G	probably damaging	Het
Spo11	T	A	2: 172,986,832		probably benign	Het
Tm9sf4	T	C	2: 153,198,344		probably benign	Het
Trak1	T	C	9: 121,451,670	I272T	probably damaging	Het
Tshz1	T	C	18: 84,014,829	K485E	possibly damaging	Het
Ttn	T	A	2: 76,754,824	I22042F	probably damaging	Het
Unc79	T	A	12: 103,072,759	S671T	possibly damaging	Het
Usp43	G	T	11: 67,913,833	A186D	probably damaging	Het
Vmn2r107	G	A	17: 20,375,221	V679I	probably benign	Het
Vsig10l	C	T	7: 43,465,374	A333V	probably damaging	Het
Vwa3a	G	A	7: 120,768,232		probably null	Het
Wdr49	C	A	3: 75,323,665	L563F	probably benign	Het
Wnk1	T	C	6: 119,951,068	T1141A	probably damaging	Het
Zfp236	T	A	18: 82,624,465	E1052V	probably damaging	Het
Zfp317	A	T	9: 19,646,712	H163L	possibly damaging	Het
Zfp975	G	A	7: 42,662,953	Q79*	probably null	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
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
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'- CCTTTCCTCTCTGTGACAATAAGG -3'
(R):5'- AGGTCTTACCCAACCTGTACC -3'

Sequencing Primer
(F):5'- GGTTGAAAATTTTACCTCCCATGTG -3'
(R):5'- GGTTGTAGGAAGTAGCACC -3'

Posted On

2015-04-30