Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01733:Ccdc178'

105592

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 #

IGL01733

Quality Score

Status

Chromosome

Chromosomal Location

21943954-22304453 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to T at 22157869 bp (GRCm39)

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 benign
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 benign
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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	C	T	15: 91,075,817 (GRCm39)		probably benign	Het
Aco1	T	G	4: 40,175,738 (GRCm39)		probably benign	Het
Brinp3	T	C	1: 146,390,541 (GRCm39)	V29A	probably benign	Het
Brsk1	T	C	7: 4,709,071 (GRCm39)	Y361H	probably damaging	Het
Ces1f	A	G	8: 93,996,642 (GRCm39)	I217T	probably damaging	Het
Col6a6	T	A	9: 105,586,454 (GRCm39)	T1856S	possibly damaging	Het
Cuedc2	C	A	19: 46,321,112 (GRCm39)	V7F	probably damaging	Het
Cyp2d34	C	T	15: 82,502,861 (GRCm39)	V122M	possibly damaging	Het
Ddx60	T	C	8: 62,436,899 (GRCm39)	S949P	probably damaging	Het
Dlg5	G	A	14: 24,220,517 (GRCm39)	R554W	probably damaging	Het
Fig4	A	T	10: 41,153,389 (GRCm39)	N137K	possibly damaging	Het
Gpr155	C	T	2: 73,183,956 (GRCm39)		probably null	Het
Grk6	A	C	13: 55,599,204 (GRCm39)	N168T	possibly damaging	Het
Hfe	T	G	13: 23,890,848 (GRCm39)	K97T	possibly damaging	Het
Hsd3b2	C	T	3: 98,623,801 (GRCm39)	E26K	probably damaging	Het
Impg1	A	G	9: 80,249,206 (GRCm39)	S666P	probably damaging	Het
Itpkb	T	G	1: 180,160,734 (GRCm39)	S287A	possibly damaging	Het
Kcnh5	T	C	12: 75,011,966 (GRCm39)	D651G	probably benign	Het
Lemd3	C	T	10: 120,769,568 (GRCm39)	W588*	probably null	Het
Lepr	A	G	4: 101,622,279 (GRCm39)	T404A	probably benign	Het
Metap1d	A	G	2: 71,341,777 (GRCm39)	I124V	probably damaging	Het
Mrpl33	T	C	5: 31,779,733 (GRCm39)	V54A	probably benign	Het
Mybl1	A	T	1: 9,755,935 (GRCm39)	S205T	possibly damaging	Het
Mybpc2	T	A	7: 44,155,622 (GRCm39)	D877V	probably benign	Het
Nxph2	T	C	2: 23,290,137 (GRCm39)	V163A	probably benign	Het
Pakap	G	T	4: 57,856,488 (GRCm39)	V606L	probably benign	Het
Pex16	C	T	2: 92,209,173 (GRCm39)	P192S	probably damaging	Het
Ptprq	C	A	10: 107,498,460 (GRCm39)	M872I	probably benign	Het
Ripor1	C	T	8: 106,342,378 (GRCm39)	R150W	possibly damaging	Het
Spns2	A	T	11: 72,347,336 (GRCm39)	V423E	possibly damaging	Het
St6galnac2	C	T	11: 116,575,945 (GRCm39)	D169N	probably damaging	Het
Stoml3	A	G	3: 53,405,548 (GRCm39)	I50V	probably benign	Het
Taar8c	A	G	10: 23,977,155 (GRCm39)	I219T	possibly damaging	Het
Ubap2	A	C	4: 41,195,862 (GRCm39)		probably benign	Het
Zfat	T	C	15: 68,052,579 (GRCm39)	D398G	probably 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
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
IGL03213:Ccdc178	APN	18	22,253,748 (GRCm39)	missense	possibly damaging	0.89
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

2014-01-21