Mutagenetix > Incidental Mutation

Incidental Mutation 'R8201:Ccdc150'

635655

Institutional Source

Beutler Lab

Gene Symbol

Ccdc150

Ensembl Gene

ENSMUSG00000025983

Gene Name

coiled-coil domain containing 150

Synonyms

4930511H11Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R8201 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

54250683-54368727 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 54329487 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 618 (N618S)

Ref Sequence

ENSEMBL: ENSMUSP00000027128 (fasta)

Gene Model

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

AlphaFold

Q8CDI7

Predicted Effect

probably benign
Transcript: ENSMUST00000027128
AA Change: N618S

PolyPhen 2 Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000027128
Gene: ENSMUSG00000025983
AA Change: N618S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	T	C	3: 124,401,397	E543G	probably benign	Het
2210408I21Rik	T	A	13: 77,193,159	N302K	possibly damaging	Het
Apbb2	T	C	5: 66,309,115	N609S	probably benign	Het
Atp10a	G	T	7: 58,819,676	G1092*	probably null	Het
Cct4	T	A	11: 22,999,115	V287E	probably damaging	Het
Cyp2j7	A	T	4: 96,195,327	I462N	probably damaging	Het
Dnajc6	C	T	4: 101,618,763	A611V	probably benign	Het
Dusp10	C	A	1: 184,037,005	A56E	possibly damaging	Het
Fam189b	T	C	3: 89,185,808	V291A	probably damaging	Het
Fat3	A	C	9: 15,997,477	C2410G	possibly damaging	Het
Fcgrt	T	A	7: 45,095,210	Q274L	possibly damaging	Het
Fdxacb1	G	T	9: 50,770,155		probably benign	Het
Fubp1	T	A	3: 152,222,186	I424N	probably damaging	Het
Gm5114	T	A	7: 39,410,949	T159S	probably damaging	Het
Gm7168	T	C	17: 13,949,780	C470R	probably benign	Het
Hebp1	A	G	6: 135,137,908	V185A	possibly damaging	Het
Il18rap	G	T	1: 40,539,269	R280I	possibly damaging	Het
Mamdc4	T	C	2: 25,566,081	N771S	probably damaging	Het
Ndufaf4	A	G	4: 24,898,197	N11D	possibly damaging	Het
Nkiras1	T	C	14: 18,276,908		probably benign	Het
Noct	T	C	3: 51,248,023	S135P	probably benign	Het
Olfr18	T	C	9: 20,314,612	M103V	probably benign	Het
Olfr317	A	C	11: 58,733,114	F17C	probably damaging	Het
Olfr330	A	T	11: 58,529,039	*316R	noncoding transcript	Het
Olfr382	T	A	11: 73,517,073	N42I	probably damaging	Het
Olfr873	G	T	9: 20,301,021	G271C	probably damaging	Het
Pcdhac1	A	T	18: 37,090,839	H235L	probably benign	Het
Pcdhb22	G	T	18: 37,518,465		probably benign	Het
Pdlim1	A	T	19: 40,230,514	D224E	probably benign	Het
Plpp3	G	T	4: 105,219,358	G223W	probably damaging	Het
Rcan3	A	G	4: 135,420,373	F81S	probably damaging	Het
Sel1l2	A	C	2: 140,266,392	Y191D	probably damaging	Het
Supt16	A	G	14: 52,170,990	F833L	probably damaging	Het
Tchh	T	C	3: 93,443,474	F74L	probably damaging	Het
Tgfbr3	T	C	5: 107,130,565	D725G	probably benign	Het
Tmem14c	C	T	13: 41,017,710	P10S	probably benign	Het
Ubb	G	A	11: 62,552,227	A28T	probably benign	Het
Vars2	A	T	17: 35,658,310	V833E	probably benign	Het
Zfyve9	T	C	4: 108,650,277	D528G	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
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
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
R8688:Ccdc150	UTSW	1	54367973	missense	probably damaging	1.00
R8719:Ccdc150	UTSW	1	54263509	missense	probably benign	0.00
R8963:Ccdc150	UTSW	1	54272482	missense	probably benign	0.14
R9178:Ccdc150	UTSW	1	54272485	missense	probably damaging	0.99
R9200:Ccdc150	UTSW	1	54260038	missense	probably damaging	1.00
R9332:Ccdc150	UTSW	1	54277751	missense	probably damaging	0.99
R9367:Ccdc150	UTSW	1	54285601	missense	probably damaging	1.00
R9416:Ccdc150	UTSW	1	54278831	missense	probably damaging	0.97
R9430:Ccdc150	UTSW	1	54281771	missense	probably damaging	1.00
R9576:Ccdc150	UTSW	1	54368385	nonsense	probably null
R9747:Ccdc150	UTSW	1	54259948	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GCCTTCACCAGAATTAGAATGGTC -3'
(R):5'- TGGGTTTCATTCCTTACTAAGCAC -3'

Sequencing Primer
(F):5'- AGAGCTTGTTGACCAGGACACTC -3'
(R):5'- ACTAAGCACTTTCTATACTTTGCTTG -3'

Posted On

2020-07-13