Mutagenetix > Incidental Mutation

Incidental Mutation 'R2401:Ccdc178'

248712

Institutional Source

Beutler Lab

Gene Symbol

Ccdc178

Ensembl Gene

ENSMUSG00000024306

Gene Name

coiled coil domain containing 178

Synonyms

4921528I01Rik

MMRRC Submission

040367-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2401 (G1)

Quality Score

149

Status

Validated

Chromosome

Chromosomal Location

21810897-22171396 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 22131414 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000111503 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025160] [ENSMUST00000115837]

AlphaFold

Q8CDV0

Predicted Effect

probably null
Transcript: ENSMUST00000025160

SMART Domains

Protein: ENSMUSP00000025160
Gene: ENSMUSG00000024306

Domain	Start	End	E-Value	Type
coiled coil region	157	204	N/A	INTRINSIC
coiled coil region	226	266	N/A	INTRINSIC
coiled coil region	292	404	N/A	INTRINSIC
coiled coil region	514	541	N/A	INTRINSIC
coiled coil region	570	631	N/A	INTRINSIC
coiled coil region	665	705	N/A	INTRINSIC
low complexity region	720	732	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000115837

SMART Domains

Protein: ENSMUSP00000111503
Gene: ENSMUSG00000024306

Domain	Start	End	E-Value	Type
coiled coil region	157	204	N/A	INTRINSIC
coiled coil region	226	266	N/A	INTRINSIC
coiled coil region	292	404	N/A	INTRINSIC
coiled coil region	514	541	N/A	INTRINSIC
coiled coil region	570	631	N/A	INTRINSIC
coiled coil region	665	705	N/A	INTRINSIC
low complexity region	720	732	N/A	INTRINSIC

Meta Mutation Damage Score

0.9491

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.0%

Validation Efficiency

100% (40/40)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	T	C	7: 120,283,089	L1158P	probably damaging	Het
Acnat1	A	T	4: 49,451,077	N11K	possibly damaging	Het
Ammecr1l	T	A	18: 31,776,003	I217N	possibly damaging	Het
Ankrd11	G	A	8: 122,908,734	R54*	probably null	Het
Ccdc36	G	T	9: 108,413,006	T133N	possibly damaging	Het
Clcn7	T	C	17: 25,153,140	S425P	probably benign	Het
Cnmd	A	G	14: 79,656,605	V114A	probably damaging	Het
Col13a1	T	C	10: 61,851,162	T651A	unknown	Het
Col1a2	G	A	6: 4,518,822		probably benign	Het
Cyp3a25	T	C	5: 145,986,968		probably null	Het
Dmrta1	A	T	4: 89,691,616	D271V	probably benign	Het
Efcab3	T	A	11: 105,072,318		probably null	Het
Exo5	T	C	4: 120,921,997	I224V	probably damaging	Het
Fam162b	C	A	10: 51,587,218	A118S	probably damaging	Het
Glb1	A	G	9: 114,454,257	T406A	possibly damaging	Het
Grk3	T	C	5: 112,914,983	N666S	probably benign	Het
Hars2	T	C	18: 36,789,523	F370L	possibly damaging	Het
Ighv8-11	T	G	12: 115,567,603		probably benign	Het
Inpp4b	A	T	8: 81,997,339	D500V	probably benign	Het
Itgb4	A	G	11: 116,006,563	D1534G	possibly damaging	Het
Kcnk2	G	C	1: 189,340,017	T38S	possibly damaging	Het
Kif16b	C	T	2: 142,756,122	V527I	probably benign	Het
Kmt2b	A	G	7: 30,576,708	Y1789H	probably damaging	Het
Lpl	A	C	8: 68,901,243	D412A	possibly damaging	Het
Lrrc27	T	G	7: 139,223,613	L151R	probably damaging	Het
Muc3	T	C	5: 137,154,041		probably benign	Het
Nup205	T	A	6: 35,208,134	Y829*	probably null	Het
Obscn	T	C	11: 59,131,646	R758G	possibly damaging	Het
Olfm4	A	G	14: 80,021,752	Y447C	probably damaging	Het
Olfr1308	T	C	2: 111,960,149	Y308C	probably benign	Het
Pcdhb6	T	C	18: 37,335,169	V381A	probably benign	Het
Prmt2	C	T	10: 76,225,415	W79*	probably null	Het
Skiv2l	T	C	17: 34,840,385	M1029V	probably benign	Het
Stil	A	G	4: 115,016,286	R369G	probably null	Het
Ttc41	T	C	10: 86,724,374	I387T	probably benign	Het
Tubgcp6	A	G	15: 89,102,984	L1262P	probably benign	Het
Vmn2r112	T	A	17: 22,603,115	V258E	probably damaging	Het
Zfp804b	T	C	5: 6,769,445	H1206R	probably damaging	Het

Other mutations in Ccdc178

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00489:Ccdc178	APN	18	21844911	missense	probably benign	0.05
IGL00743:Ccdc178	APN	18	22145444	splice site	probably benign
IGL00906:Ccdc178	APN	18	22135168	nonsense	probably null
IGL01352:Ccdc178	APN	18	22018974	splice site	probably benign
IGL01553:Ccdc178	APN	18	21915006	missense	probably damaging	0.97
IGL01607:Ccdc178	APN	18	22067721	missense	probably benign	0.01
IGL01733:Ccdc178	APN	18	22024812	splice site	probably benign
IGL01795:Ccdc178	APN	18	22019118	missense	probably benign	0.04
IGL01996:Ccdc178	APN	18	22097756	missense	probably damaging	0.99
IGL02939:Ccdc178	APN	18	22120718	missense	probably benign	0.01
IGL03213:Ccdc178	APN	18	22120691	missense	possibly damaging	0.89
IGL03253:Ccdc178	APN	18	21845011	nonsense	probably null
IGL03331:Ccdc178	APN	18	21811583	splice site	probably null
PIT4520001:Ccdc178	UTSW	18	22067413	missense	probably damaging	0.97
R0121:Ccdc178	UTSW	18	21845024	critical splice acceptor site	probably null
R0153:Ccdc178	UTSW	18	22150435	missense	probably benign	0.00
R0364:Ccdc178	UTSW	18	21915062	missense	probably damaging	0.97
R0604:Ccdc178	UTSW	18	22067443	missense	probably benign	0.01
R0709:Ccdc178	UTSW	18	22067662	missense	probably damaging	0.97
R0961:Ccdc178	UTSW	18	22019041	missense	possibly damaging	0.79
R1029:Ccdc178	UTSW	18	22097725	missense	possibly damaging	0.89
R1456:Ccdc178	UTSW	18	22150424	missense	possibly damaging	0.81
R1481:Ccdc178	UTSW	18	22105621	missense	probably benign	0.00
R1596:Ccdc178	UTSW	18	22020873	missense	possibly damaging	0.79
R1739:Ccdc178	UTSW	18	22097723	missense	possibly damaging	0.92
R1838:Ccdc178	UTSW	18	22067638	missense	probably damaging	0.97
R2214:Ccdc178	UTSW	18	21914990	missense	possibly damaging	0.73
R2679:Ccdc178	UTSW	18	21811556	missense	possibly damaging	0.90
R3051:Ccdc178	UTSW	18	22135131	missense	probably benign	0.05
R3150:Ccdc178	UTSW	18	22067652	missense	possibly damaging	0.95
R3151:Ccdc178	UTSW	18	21811561	missense	probably benign	0.00
R3177:Ccdc178	UTSW	18	22067652	missense	possibly damaging	0.95
R3277:Ccdc178	UTSW	18	22067652	missense	possibly damaging	0.95
R3903:Ccdc178	UTSW	18	22023095	missense	possibly damaging	0.79
R4184:Ccdc178	UTSW	18	22024784	missense	probably damaging	1.00
R4258:Ccdc178	UTSW	18	22017335	splice site	probably null
R4319:Ccdc178	UTSW	18	22033543	nonsense	probably null
R4321:Ccdc178	UTSW	18	22033543	nonsense	probably null
R4323:Ccdc178	UTSW	18	22033543	nonsense	probably null
R4509:Ccdc178	UTSW	18	22067392	missense	possibly damaging	0.94
R4672:Ccdc178	UTSW	18	22150444	nonsense	probably null
R5078:Ccdc178	UTSW	18	22067628	critical splice donor site	probably null
R5099:Ccdc178	UTSW	18	22105591	missense	probably benign
R5679:Ccdc178	UTSW	18	22067429	missense	probably benign
R5683:Ccdc178	UTSW	18	22130122	missense	probably benign	0.00
R6120:Ccdc178	UTSW	18	22097728	missense	probably benign	0.00
R6318:Ccdc178	UTSW	18	22120534	missense	possibly damaging	0.90
R6717:Ccdc178	UTSW	18	22020889	missense	probably damaging	0.98
R6853:Ccdc178	UTSW	18	22109876	missense	probably benign	0.00
R6980:Ccdc178	UTSW	18	22105563	missense	probably benign
R7019:Ccdc178	UTSW	18	22150438	missense	probably benign	0.00
R7246:Ccdc178	UTSW	18	22109754	missense	possibly damaging	0.92
R7322:Ccdc178	UTSW	18	22105549	missense	probably benign	0.15
R7340:Ccdc178	UTSW	18	22017461	missense	probably benign	0.17
R7371:Ccdc178	UTSW	18	22130138	missense	probably benign	0.01
R8003:Ccdc178	UTSW	18	21844887	critical splice donor site	probably null
R8371:Ccdc178	UTSW	18	21811504	missense	possibly damaging	0.90
R8670:Ccdc178	UTSW	18	22097662	missense	possibly damaging	0.89
R8695:Ccdc178	UTSW	18	22024752	missense	probably benign	0.02
R8885:Ccdc178	UTSW	18	22067664	missense	probably damaging	0.98
R9504:Ccdc178	UTSW	18	22105651	missense	possibly damaging	0.89
R9518:Ccdc178	UTSW	18	22145459	missense	possibly damaging	0.92
X0063:Ccdc178	UTSW	18	21844912	missense	probably benign	0.12
Z1177:Ccdc178	UTSW	18	22109731	missense	possibly damaging	0.79

Predicted Primers

PCR Primer
(F):5'- ACAACGTTCACTCTCACATGAG -3'
(R):5'- TCCTTTGGTAGCATCCATTGAG -3'

Sequencing Primer
(F):5'- TCACATGAGAACTCTATTCCCCC -3'
(R):5'- AGACTCAATGACTCTCTCTTGATAGC -3'

Posted On

2014-11-11