Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03213:Ccdc178'

413366

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ccdc178

Ensembl Gene

ENSMUSG00000024306

Gene Name

coiled coil domain containing 178

Synonyms

4921528I01Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03213

Quality Score

Status

Chromosome

Chromosomal Location

21943954-22304453 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 22253748 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 164 (T164A)

Ref Sequence

ENSEMBL: ENSMUSP00000111503 (fasta)

Gene Model

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

AlphaFold

Q8CDV0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025160
AA Change: T164A

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000025160
Gene: ENSMUSG00000024306
AA Change: T164A

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

possibly damaging
Transcript: ENSMUST00000115837
AA Change: T164A

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000111503
Gene: ENSMUSG00000024306
AA Change: T164A

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

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
Abi1	A	T	2: 22,831,971 (GRCm39)	D447E	probably damaging	Het
Aldh8a1	T	C	10: 21,260,616 (GRCm39)	V175A	probably damaging	Het
Aoc1l3	A	G	6: 48,965,279 (GRCm39)	D429G	possibly damaging	Het
Arap2	T	A	5: 62,906,438 (GRCm39)	T194S	probably benign	Het
Arih2	T	C	9: 108,484,546 (GRCm39)	T422A	probably damaging	Het
Arl5b	T	A	2: 15,074,676 (GRCm39)	N52K	probably damaging	Het
Atg13	G	A	2: 91,515,512 (GRCm39)	H227Y	probably damaging	Het
Cep192	T	C	18: 67,998,708 (GRCm39)	V2074A	probably damaging	Het
Ces2c	T	C	8: 105,574,672 (GRCm39)	I43T	probably benign	Het
Chrm3	G	A	13: 9,928,220 (GRCm39)	T272I	probably benign	Het
Cln8	A	G	8: 14,944,845 (GRCm39)	Y53C	probably damaging	Het
Cwc27	T	A	13: 104,932,911 (GRCm39)		probably benign	Het
Cyp3a13	A	T	5: 137,892,529 (GRCm39)		probably benign	Het
Dchs1	G	T	7: 105,404,279 (GRCm39)	N2754K	probably damaging	Het
Dclk1	A	T	3: 55,387,805 (GRCm39)	K84*	probably null	Het
Ednra	T	C	8: 78,446,848 (GRCm39)	T77A	probably benign	Het
Epn2	T	C	11: 61,410,510 (GRCm39)	N553D	probably damaging	Het
Fut2	C	T	7: 45,300,193 (GRCm39)	G193E	possibly damaging	Het
Gm10784	T	A	13: 50,099,310 (GRCm39)		noncoding transcript	Het
Gtf2e2	T	C	8: 34,242,525 (GRCm39)	F76L	probably damaging	Het
Hnrnpll	A	T	17: 80,341,527 (GRCm39)	V504E	probably damaging	Het
Ifitm2	A	G	7: 140,535,677 (GRCm39)	V51A	possibly damaging	Het
Il16	C	T	7: 83,295,708 (GRCm39)	E456K	probably damaging	Het
Lmod2	A	T	6: 24,603,615 (GRCm39)	I197F	possibly damaging	Het
Lrrc14	T	C	15: 76,597,983 (GRCm39)	S238P	possibly damaging	Het
Map3k1	A	G	13: 111,885,426 (GRCm39)		probably benign	Het
Phf11d	C	A	14: 59,586,797 (GRCm39)	R210S	probably benign	Het
Pigu	T	C	2: 155,177,291 (GRCm39)	N103S	probably damaging	Het
Rgsl1	A	G	1: 153,701,587 (GRCm39)	V289A	probably benign	Het
Rp1l1	T	A	14: 64,265,864 (GRCm39)	S483R	probably damaging	Het
Ryr2	A	T	13: 11,739,273 (GRCm39)		probably benign	Het
Sema3c	T	G	5: 17,899,637 (GRCm39)		probably benign	Het
Septin4	G	T	11: 87,458,184 (GRCm39)		probably null	Het
Sfmbt2	A	G	2: 10,409,385 (GRCm39)	Y110C	probably damaging	Het
Slc12a3	T	C	8: 95,061,933 (GRCm39)	V328A	possibly damaging	Het
Smarca2	G	A	19: 26,601,375 (GRCm39)	G31D	probably damaging	Het
Spmip1	G	A	6: 29,471,792 (GRCm39)	M89I	probably damaging	Het
Tenm2	T	G	11: 35,914,157 (GRCm39)	E2460A	probably benign	Het
Trim58	T	A	11: 58,541,993 (GRCm39)	W318R	probably benign	Het
Ube3a	C	T	7: 58,935,870 (GRCm39)	Q585*	probably null	Het
Vmn2r17	T	C	5: 109,582,256 (GRCm39)		probably null	Het
Zfp647	A	G	15: 76,796,177 (GRCm39)	V161A	possibly damaging	Het

Other mutations in Ccdc178

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00489:Ccdc178	APN	18	21,977,968 (GRCm39)	missense	probably benign	0.05
IGL00743:Ccdc178	APN	18	22,278,501 (GRCm39)	splice site	probably benign
IGL00906:Ccdc178	APN	18	22,268,225 (GRCm39)	nonsense	probably null
IGL01352:Ccdc178	APN	18	22,152,031 (GRCm39)	splice site	probably benign
IGL01553:Ccdc178	APN	18	22,048,063 (GRCm39)	missense	probably damaging	0.97
IGL01607:Ccdc178	APN	18	22,200,778 (GRCm39)	missense	probably benign	0.01
IGL01733:Ccdc178	APN	18	22,157,869 (GRCm39)	splice site	probably benign
IGL01795:Ccdc178	APN	18	22,152,175 (GRCm39)	missense	probably benign	0.04
IGL01996:Ccdc178	APN	18	22,230,813 (GRCm39)	missense	probably damaging	0.99
IGL02939:Ccdc178	APN	18	22,253,775 (GRCm39)	missense	probably benign	0.01
IGL03253:Ccdc178	APN	18	21,978,068 (GRCm39)	nonsense	probably null
IGL03331:Ccdc178	APN	18	21,944,640 (GRCm39)	splice site	probably null
PIT4520001:Ccdc178	UTSW	18	22,200,470 (GRCm39)	missense	probably damaging	0.97
R0121:Ccdc178	UTSW	18	21,978,081 (GRCm39)	critical splice acceptor site	probably null
R0153:Ccdc178	UTSW	18	22,283,492 (GRCm39)	missense	probably benign	0.00
R0364:Ccdc178	UTSW	18	22,048,119 (GRCm39)	missense	probably damaging	0.97
R0604:Ccdc178	UTSW	18	22,200,500 (GRCm39)	missense	probably benign	0.01
R0709:Ccdc178	UTSW	18	22,200,719 (GRCm39)	missense	probably damaging	0.97
R0961:Ccdc178	UTSW	18	22,152,098 (GRCm39)	missense	possibly damaging	0.79
R1029:Ccdc178	UTSW	18	22,230,782 (GRCm39)	missense	possibly damaging	0.89
R1456:Ccdc178	UTSW	18	22,283,481 (GRCm39)	missense	possibly damaging	0.81
R1481:Ccdc178	UTSW	18	22,238,678 (GRCm39)	missense	probably benign	0.00
R1596:Ccdc178	UTSW	18	22,153,930 (GRCm39)	missense	possibly damaging	0.79
R1739:Ccdc178	UTSW	18	22,230,780 (GRCm39)	missense	possibly damaging	0.92
R1838:Ccdc178	UTSW	18	22,200,695 (GRCm39)	missense	probably damaging	0.97
R2214:Ccdc178	UTSW	18	22,048,047 (GRCm39)	missense	possibly damaging	0.73
R2401:Ccdc178	UTSW	18	22,264,471 (GRCm39)	critical splice donor site	probably null
R2679:Ccdc178	UTSW	18	21,944,613 (GRCm39)	missense	possibly damaging	0.90
R3051:Ccdc178	UTSW	18	22,268,188 (GRCm39)	missense	probably benign	0.05
R3150:Ccdc178	UTSW	18	22,200,709 (GRCm39)	missense	possibly damaging	0.95
R3151:Ccdc178	UTSW	18	21,944,618 (GRCm39)	missense	probably benign	0.00
R3177:Ccdc178	UTSW	18	22,200,709 (GRCm39)	missense	possibly damaging	0.95
R3277:Ccdc178	UTSW	18	22,200,709 (GRCm39)	missense	possibly damaging	0.95
R3903:Ccdc178	UTSW	18	22,156,152 (GRCm39)	missense	possibly damaging	0.79
R4184:Ccdc178	UTSW	18	22,157,841 (GRCm39)	missense	probably damaging	1.00
R4258:Ccdc178	UTSW	18	22,150,392 (GRCm39)	splice site	probably null
R4319:Ccdc178	UTSW	18	22,166,600 (GRCm39)	nonsense	probably null
R4321:Ccdc178	UTSW	18	22,166,600 (GRCm39)	nonsense	probably null
R4323:Ccdc178	UTSW	18	22,166,600 (GRCm39)	nonsense	probably null
R4509:Ccdc178	UTSW	18	22,200,449 (GRCm39)	missense	possibly damaging	0.94
R4672:Ccdc178	UTSW	18	22,283,501 (GRCm39)	nonsense	probably null
R5078:Ccdc178	UTSW	18	22,200,685 (GRCm39)	critical splice donor site	probably null
R5099:Ccdc178	UTSW	18	22,238,648 (GRCm39)	missense	probably benign
R5679:Ccdc178	UTSW	18	22,200,486 (GRCm39)	missense	probably benign
R5683:Ccdc178	UTSW	18	22,263,179 (GRCm39)	missense	probably benign	0.00
R6120:Ccdc178	UTSW	18	22,230,785 (GRCm39)	missense	probably benign	0.00
R6318:Ccdc178	UTSW	18	22,253,591 (GRCm39)	missense	possibly damaging	0.90
R6717:Ccdc178	UTSW	18	22,153,946 (GRCm39)	missense	probably damaging	0.98
R6853:Ccdc178	UTSW	18	22,242,933 (GRCm39)	missense	probably benign	0.00
R6980:Ccdc178	UTSW	18	22,238,620 (GRCm39)	missense	probably benign
R7019:Ccdc178	UTSW	18	22,283,495 (GRCm39)	missense	probably benign	0.00
R7246:Ccdc178	UTSW	18	22,242,811 (GRCm39)	missense	possibly damaging	0.92
R7322:Ccdc178	UTSW	18	22,238,606 (GRCm39)	missense	probably benign	0.15
R7340:Ccdc178	UTSW	18	22,150,518 (GRCm39)	missense	probably benign	0.17
R7371:Ccdc178	UTSW	18	22,263,195 (GRCm39)	missense	probably benign	0.01
R8003:Ccdc178	UTSW	18	21,977,944 (GRCm39)	critical splice donor site	probably null
R8371:Ccdc178	UTSW	18	21,944,561 (GRCm39)	missense	possibly damaging	0.90
R8670:Ccdc178	UTSW	18	22,230,719 (GRCm39)	missense	possibly damaging	0.89
R8695:Ccdc178	UTSW	18	22,157,809 (GRCm39)	missense	probably benign	0.02
R8885:Ccdc178	UTSW	18	22,200,721 (GRCm39)	missense	probably damaging	0.98
R9504:Ccdc178	UTSW	18	22,238,708 (GRCm39)	missense	possibly damaging	0.89
R9518:Ccdc178	UTSW	18	22,278,516 (GRCm39)	missense	possibly damaging	0.92
X0063:Ccdc178	UTSW	18	21,977,969 (GRCm39)	missense	probably benign	0.12
Z1177:Ccdc178	UTSW	18	22,242,788 (GRCm39)	missense	possibly damaging	0.79

Posted On

2016-08-02