Mutagenetix > Incidental Mutation

Incidental Mutation 'R6033:Ccdc150'

486365

Institutional Source

Beutler Lab

Gene Symbol

Ccdc150

Ensembl Gene

ENSMUSG00000025983

Gene Name

coiled-coil domain containing 150

Synonyms

4930511H11Rik

MMRRC Submission

044205-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R6033 (G1)

Quality Score

225.009

Status

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 T at 54285628 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000027128 (fasta)

Gene Model

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

AlphaFold

Q8CDI7

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

Meta Mutation Damage Score

0.9486

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 96.0%

Validation Efficiency

100% (55/55)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700125H20Rik	A	G	11: 85,178,372	E72G	probably damaging	Het
Adgrl1	T	A	8: 83,918,922	V58E	probably damaging	Het
Afg3l2	G	T	18: 67,421,259	L458M	probably damaging	Het
Alas1	A	G	9: 106,241,204	S240P	probably damaging	Het
Alox12e	C	T	11: 70,316,013	G616D	probably benign	Het
Arhgap8	A	G	15: 84,741,925	E67G	probably damaging	Het
Ash1l	T	C	3: 88,985,019	Y1402H	probably damaging	Het
Cmtm8	T	C	9: 114,796,073	T97A	probably damaging	Het
Cnmd	T	C	14: 79,661,505	S36G	probably benign	Het
Dnah3	A	C	7: 120,071,647	N609K	probably benign	Het
Dph1	C	T	11: 75,191,197		probably benign	Het
Drosha	G	A	15: 12,925,999	A1225T	probably benign	Het
Eid3	T	A	10: 82,867,653	I316K	probably damaging	Het
Erich6	A	G	3: 58,623,201	L449S	probably benign	Het
Fhod1	T	C	8: 105,336,434		probably benign	Het
Glra1	A	G	11: 55,527,419	Y250H	probably damaging	Het
Gm21972	T	C	1: 86,137,095	Y950H	probably damaging	Het
Gm6712	T	A	17: 17,294,416		noncoding transcript	Het
Gm6768	A	G	12: 119,261,740		noncoding transcript	Het
Grb7	C	T	11: 98,455,197		probably null	Het
Hivep1	A	G	13: 42,157,107	E941G	probably benign	Het
Homer2	A	C	7: 81,618,679	S78A	possibly damaging	Het
Ica1	T	A	6: 8,630,799		probably null	Het
Ifna12	T	C	4: 88,602,917	E131G	possibly damaging	Het
Igbp1b	T	C	6: 138,658,209	Y79C	probably damaging	Het
Incenp	C	T	19: 9,872,697	V871I	probably damaging	Het
Jaml	G	A	9: 45,088,710	G60D	probably damaging	Het
Kcp	C	T	6: 29,493,194	C110Y	probably damaging	Het
Manba	T	C	3: 135,549,261	V460A	probably benign	Het
Myrfl	A	T	10: 116,849,101	C125S	probably benign	Het
Ncan	T	C	8: 70,112,590	D229G	probably damaging	Het
Nlrp10	A	T	7: 108,924,577	D565E	probably benign	Het
Npas2	T	C	1: 39,338,180	V541A	probably damaging	Het
Nsg2	G	A	11: 32,055,058	V87M	possibly damaging	Het
Olfr1040	A	T	2: 86,146,269	V155E	probably damaging	Het
Prkd2	C	T	7: 16,865,714	R701C	probably damaging	Het
Prr3	A	T	17: 35,978,624		probably null	Het
Prss36	T	C	7: 127,934,567	R22G	probably benign	Het
Slc45a4	G	A	15: 73,581,976	A716V	probably damaging	Het
Slc46a1	T	C	11: 78,466,007		probably null	Het
Slc6a5	T	C	7: 49,959,351	I768T	probably benign	Het
Slco6c1	C	T	1: 97,081,316		probably null	Het
Taar2	A	T	10: 23,940,976	H138L	probably benign	Het
Taf2	A	C	15: 55,058,901	L330R	probably damaging	Het
Tgm5	T	C	2: 121,070,729		probably null	Het
Tmed4	A	T	11: 6,274,491	Y56*	probably null	Het
Tmem156	A	T	5: 65,075,621	F135L	probably benign	Het
Ttll6	T	C	11: 96,134,887	S65P	probably damaging	Het
Ttn	C	T	2: 76,726,827	G28199R	probably damaging	Het
Ubn2	T	A	6: 38,470,224		probably null	Het
Unc80	A	T	1: 66,473,260	T110S	possibly damaging	Het
Vmn2r72	A	T	7: 85,737,929	V809E	probably damaging	Het
Zbtb2	A	G	10: 4,368,599	F476L	probably damaging	Het
Zbtb24	T	C	10: 41,464,401	F498L	probably damaging	Het
Zfp280d	T	A	9: 72,329,137	L494Q	probably damaging	Het
Zfp281	T	C	1: 136,626,726	S481P	probably benign	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
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
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'- ATGCACAAGTGGACACTGATAG -3'
(R):5'- CTTGTGTACCACAGAGTCAAAGG -3'

Sequencing Primer
(F):5'- CACTGATAGTGGTCAGAATACAGACC -3'
(R):5'- TGTACCACAGAGTCAAAGGAATTTG -3'

Posted On

2017-08-16