Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00906:Ccdc178'

29401

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 #

IGL00906

Quality Score

Status

Chromosome

Chromosomal Location

21943954-22304453 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 22268225 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 87 (C87*)

Ref Sequence

ENSEMBL: ENSMUSP00000111503 (fasta)

Gene Model

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

AlphaFold

Q8CDV0

Predicted Effect

probably null
Transcript: ENSMUST00000025160
AA Change: C87*

SMART Domains

Protein: ENSMUSP00000025160
Gene: ENSMUSG00000024306
AA Change: C87*

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
AA Change: C87*

SMART Domains

Protein: ENSMUSP00000111503
Gene: ENSMUSG00000024306
AA Change: C87*

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aacs	A	G	5: 125,580,338 (GRCm39)	E221G	probably benign	Het
Alb	A	G	5: 90,619,932 (GRCm39)	N453S	probably benign	Het
Bckdha	C	T	7: 25,332,767 (GRCm39)	V183M	probably benign	Het
Brpf3	A	G	17: 29,055,674 (GRCm39)		probably benign	Het
Ccdc163	T	C	4: 116,567,487 (GRCm39)		probably null	Het
Cfhr4	A	T	1: 139,659,312 (GRCm39)	V739E	probably damaging	Het
Clca4a	A	G	3: 144,660,700 (GRCm39)	V708A	probably damaging	Het
Cyfip2	A	G	11: 46,091,512 (GRCm39)	V1136A	possibly damaging	Het
Dnah11	A	C	12: 117,874,937 (GRCm39)	L3976R	probably damaging	Het
Erich1	A	G	8: 14,083,770 (GRCm39)		probably benign	Het
Fam228a	A	T	12: 4,782,773 (GRCm39)	Y107N	possibly damaging	Het
Iars2	A	T	1: 185,028,600 (GRCm39)		probably benign	Het
Ifi204	A	G	1: 173,587,197 (GRCm39)		probably benign	Het
Ifih1	A	T	2: 62,476,168 (GRCm39)	I36N	probably benign	Het
Jak1	C	T	4: 101,011,826 (GRCm39)	G1092D	probably damaging	Het
Kir3dl2	G	A	X: 135,357,097 (GRCm39)	P122S	probably damaging	Het
Nacc2	T	C	2: 25,951,678 (GRCm39)	T386A	probably damaging	Het
Nrf1	C	T	6: 30,098,477 (GRCm39)	T135M	probably damaging	Het
Or4k15	A	G	14: 50,364,214 (GRCm39)	Y60C	probably damaging	Het
Or51i2	G	A	7: 103,689,051 (GRCm39)	G16D	probably damaging	Het
Pcca	A	C	14: 122,927,545 (GRCm39)	D436A	probably benign	Het
Pcdhb11	A	T	18: 37,555,174 (GRCm39)	Q168L	possibly damaging	Het
Pdgfra	A	G	5: 75,340,834 (GRCm39)	I598V	probably benign	Het
Pla2g6	C	T	15: 79,171,947 (GRCm39)	V637I	probably damaging	Het
Plac1	A	C	X: 52,159,593 (GRCm39)	V39G	probably damaging	Het
Pparg	A	G	6: 115,416,822 (GRCm39)	E5G	probably damaging	Het
Ppp1r9a	A	G	6: 5,157,023 (GRCm39)	D967G	possibly damaging	Het
Rel	T	C	11: 23,694,266 (GRCm39)	T322A	probably benign	Het
Sgk3	A	G	1: 9,947,470 (GRCm39)	T137A	probably benign	Het
Sgpp2	A	G	1: 78,367,184 (GRCm39)	R106G	probably benign	Het
Slc27a5	T	A	7: 12,724,984 (GRCm39)	M459L	probably benign	Het
Snx21	T	C	2: 164,628,140 (GRCm39)	L52P	probably damaging	Het
Srarp	G	A	4: 141,160,584 (GRCm39)	T83M	probably benign	Het
Sstr2	A	G	11: 113,515,821 (GRCm39)	R247G	probably benign	Het
Tnpo3	G	A	6: 29,589,047 (GRCm39)	S101L	probably damaging	Het
Zan	A	G	5: 137,387,622 (GRCm39)	I4863T	unknown	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
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
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

2013-04-17