Mutagenetix > Incidental Mutation

Incidental Mutation 'R4319:Ccdc178'

377764

Institutional Source

Beutler Lab

Gene Symbol

Ccdc178

Ensembl Gene

ENSMUSG00000024306

Gene Name

coiled coil domain containing 178

Synonyms

4921528I01Rik

MMRRC Submission

041660-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4319 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21943954-22304453 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 22166600 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 530 (K530*)

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: K530*

SMART Domains

Protein: ENSMUSP00000025160
Gene: ENSMUSG00000024306
AA Change: K530*

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: K530*

SMART Domains

Protein: ENSMUSP00000111503
Gene: ENSMUSG00000024306
AA Change: K530*

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

0.9717

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

94% (31/33)

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atxn7l2	A	T	3: 108,113,148 (GRCm39)	D218E	probably damaging	Het
Bahd1	C	T	2: 118,746,887 (GRCm39)	P169S	probably damaging	Het
Cacna1c	A	C	6: 118,631,330 (GRCm39)	I1148S	probably damaging	Het
Ccdc191	A	G	16: 43,767,872 (GRCm39)	E624G	probably damaging	Het
Cep290	A	C	10: 100,374,909 (GRCm39)	H1385P	probably benign	Het
Chrd	A	G	16: 20,555,798 (GRCm39)	H545R	probably damaging	Het
Dgkb	A	G	12: 38,488,598 (GRCm39)	I655V	probably damaging	Het
Gm2663	G	T	6: 40,974,530 (GRCm39)	Q87K	probably damaging	Het
Itsn1	G	A	16: 91,615,440 (GRCm39)		probably benign	Het
Kif11	T	C	19: 37,373,033 (GRCm39)	V84A	probably damaging	Het
Klf2	A	G	8: 73,074,005 (GRCm39)	T270A	probably benign	Het
Lemd2	A	G	17: 27,420,651 (GRCm39)	M254T	possibly damaging	Het
Luc7l	A	T	17: 26,496,593 (GRCm39)		probably benign	Het
Mapk11	T	C	15: 89,030,946 (GRCm39)	E71G	probably damaging	Het
Mcoln2	G	A	3: 145,855,766 (GRCm39)		probably null	Het
Or2y1f	G	A	11: 49,184,503 (GRCm39)	M118I	probably damaging	Het
Pira13	A	G	7: 3,825,754 (GRCm39)	S372P	possibly damaging	Het
Pygb	G	T	2: 150,657,534 (GRCm39)		probably benign	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Sox6	A	G	7: 115,179,798 (GRCm39)		probably null	Het
Spty2d1	T	C	7: 46,647,883 (GRCm39)	S349G	probably damaging	Het
Srbd1	A	T	17: 86,358,578 (GRCm39)	V657D	probably damaging	Het
Tspo2	G	T	17: 48,756,871 (GRCm39)		probably benign	Het
Ufsp2	A	G	8: 46,448,664 (GRCm39)	T422A	possibly damaging	Het
Vmn2r63	A	G	7: 42,576,406 (GRCm39)	F469S	probably benign	Het
Wdr46	A	G	17: 34,159,718 (GRCm39)	T3A	probably benign	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
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
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

Predicted Primers

PCR Primer
(F):5'- ATCCATGTGGTGCACCTTCC -3'
(R):5'- CACTCTCTATGAATAGCTGGACTAATC -3'

Sequencing Primer
(F):5'- AAGCCAGTTCATCGACTTGG -3'
(R):5'- GAATAGCTGGACTAATCTTTGCTTC -3'

Posted On

2016-04-01