Mutagenetix > Incidental Mutation

Incidental Mutation 'R5099:Ccdc178'

388195

Institutional Source

Beutler Lab

Gene Symbol

Ccdc178

Ensembl Gene

ENSMUSG00000024306

Gene Name

coiled coil domain containing 178

Synonyms

4921528I01Rik

MMRRC Submission

042688-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5099 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21943954-22304453 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 22238648 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 323 (V323E)

Ref Sequence

ENSEMBL: ENSMUSP00000111503 (fasta)

Gene Model

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

AlphaFold

Q8CDV0

Predicted Effect

probably benign
Transcript: ENSMUST00000025160
AA Change: V323E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000025160
Gene: ENSMUSG00000024306
AA Change: V323E

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
AA Change: V323E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000111503
Gene: ENSMUSG00000024306
AA Change: V323E

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

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

98% (41/42)

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arsa	A	G	15: 89,359,542 (GRCm39)	L80P	probably damaging	Het
Bdkrb1	A	G	12: 105,570,533 (GRCm39)	D33G	probably benign	Het
Ceacam5	T	C	7: 17,479,513 (GRCm39)	V210A	probably damaging	Het
Dcdc2a	A	G	13: 25,291,681 (GRCm39)	E222G	probably benign	Het
Gbp9	A	T	5: 105,242,379 (GRCm39)	L120Q	probably damaging	Het
Gm4787	G	C	12: 81,424,604 (GRCm39)	T518S	probably benign	Het
Gsr	T	A	8: 34,161,556 (GRCm39)	I121N	probably damaging	Het
Ift140	T	A	17: 25,309,674 (GRCm39)	M1068K	probably damaging	Het
Jakmip2	A	G	18: 43,701,173 (GRCm39)	I414T	probably benign	Het
Lpin2	G	A	17: 71,550,965 (GRCm39)	W708*	probably null	Het
Mecom	A	G	3: 30,039,465 (GRCm39)		probably benign	Het
Mff	C	T	1: 82,728,192 (GRCm39)		probably benign	Het
Ms4a20	T	C	19: 11,089,825 (GRCm39)		probably null	Het
Neb	C	T	2: 52,085,460 (GRCm39)	C1545Y	probably damaging	Het
Or5ac24	C	T	16: 59,165,266 (GRCm39)	G266D	probably benign	Het
Or5p5	A	G	7: 107,413,809 (GRCm39)	H6R	probably benign	Het
Or8k36-ps1	A	T	2: 86,437,560 (GRCm39)	N118K	unknown	Het
Ppm1n	A	T	7: 19,011,903 (GRCm39)	L392Q	possibly damaging	Het
Prr22	T	C	17: 57,078,467 (GRCm39)	F207L	probably benign	Het
Ptprv	T	C	1: 135,046,592 (GRCm39)		noncoding transcript	Het
Rin2	G	A	2: 145,720,821 (GRCm39)	C718Y	probably damaging	Het
Rpgrip1l	G	A	8: 91,975,350 (GRCm39)	T1089I	probably benign	Het
Scn1a	A	G	2: 66,108,145 (GRCm39)	V1510A	probably damaging	Het
Slfn3	A	T	11: 83,105,764 (GRCm39)	Y587F	probably damaging	Het
Sp2	T	C	11: 96,852,175 (GRCm39)	K250E	probably damaging	Het
Ssu2	A	G	6: 112,336,585 (GRCm39)	S333P	probably benign	Het
Strbp	T	C	2: 37,493,030 (GRCm39)	T419A	probably damaging	Het
Tada2b	A	T	5: 36,633,744 (GRCm39)	M203K	probably benign	Het
Tmem176b	T	C	6: 48,811,463 (GRCm39)	Y62C	probably benign	Het
Tox	G	T	4: 6,688,958 (GRCm39)	Q469K	probably benign	Het
Trgv5	G	T	13: 19,376,886 (GRCm39)	C111F	probably damaging	Het
Tyw5	T	C	1: 57,427,864 (GRCm39)	N243D	probably damaging	Het
Ube2q2	T	A	9: 55,113,307 (GRCm39)		probably benign	Het
Ufl1	C	T	4: 25,275,914 (GRCm39)	R83Q	probably damaging	Het
Unk	A	G	11: 115,949,936 (GRCm39)	Q701R	probably benign	Het
Vmn1r60	A	T	7: 5,547,816 (GRCm39)	C95S	probably damaging	Het
Vmn1r81	A	G	7: 11,994,248 (GRCm39)	I120T	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
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
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'- AGGGAGATACATTGCTTTTATGCC -3'
(R):5'- ACCTAAAGTATGAGTGACACTGG -3'

Sequencing Primer
(F):5'- TGATGATAATATTGGCTCAAGCAAC -3'
(R):5'- GAGCAATTCATGAAGAGCTTAA -3'

Posted On

2016-06-06