Mutagenetix > Incidental Mutation

Incidental Mutation 'R3903:Ccdc178'

309283

Institutional Source

Beutler Lab

Gene Symbol

Ccdc178

Ensembl Gene

ENSMUSG00000024306

Gene Name

coiled coil domain containing 178

Synonyms

4921528I01Rik

MMRRC Submission

040907-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3903 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21943954-22304453 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 22156152 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 573 (V573I)

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: V573I

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000025160
Gene: ENSMUSG00000024306
AA Change: V573I

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: V573I

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000111503
Gene: ENSMUSG00000024306
AA Change: V573I

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

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

100% (32/32)

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amd1	C	T	10: 40,166,453 (GRCm39)	R210H	probably benign	Het
Amt	C	T	9: 108,174,420 (GRCm39)	R62C	possibly damaging	Het
Ap3m1	T	C	14: 21,086,732 (GRCm39)	Y185C	probably null	Het
Calcrl	T	A	2: 84,198,986 (GRCm39)		probably benign	Het
Cdh6	T	C	15: 13,042,661 (GRCm39)	K499R	probably benign	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Col6a1	C	T	10: 76,547,175 (GRCm39)	R730H	unknown	Het
Cyp4f40	C	A	17: 32,878,598 (GRCm39)	R47S	possibly damaging	Het
Eif4a2	AG	A	16: 22,929,390 (GRCm39)		probably null	Het
Fsip2l	T	C	X: 47,930,421 (GRCm39)	N649S	possibly damaging	Het
Gm8180	T	A	14: 44,021,092 (GRCm39)	R39W	probably null	Het
Golm1	T	C	13: 59,786,154 (GRCm39)	Q346R	probably damaging	Het
Grap	T	G	11: 61,551,151 (GRCm39)		probably null	Het
Hormad2	A	G	11: 4,377,237 (GRCm39)		probably benign	Het
Hyal1	T	C	9: 107,456,171 (GRCm39)		probably null	Het
Kif12	A	G	4: 63,086,213 (GRCm39)	V378A	possibly damaging	Het
Lrrk2	G	A	15: 91,631,904 (GRCm39)	S1276N	probably damaging	Het
Lrrk2	A	T	15: 91,631,903 (GRCm39)	S1276C	probably damaging	Het
Obscn	T	C	11: 59,022,472 (GRCm39)	R758G	possibly damaging	Het
Or4f53	A	T	2: 111,088,114 (GRCm39)	Y218F	probably damaging	Het
Or7c70	T	G	10: 78,683,132 (GRCm39)	I206L	probably benign	Het
Or8c20	C	T	9: 38,260,954 (GRCm39)	Q186*	probably null	Het
Pabpc6	T	C	17: 9,888,083 (GRCm39)	E156G	probably benign	Het
Rorb	A	G	19: 18,939,463 (GRCm39)	Y155H	probably damaging	Het
Samd9l	T	A	6: 3,376,830 (GRCm39)	K144*	probably null	Het
Scn1a	A	G	2: 66,148,476 (GRCm39)	I3T	probably benign	Het
Serpinb9	T	C	13: 33,194,793 (GRCm39)	M183T	possibly damaging	Het
Wnk1	A	G	6: 119,926,012 (GRCm39)	S1151P	probably damaging	Het
Xirp2	C	T	2: 67,338,380 (GRCm39)	T207I	probably benign	Het
Zfp39	T	C	11: 58,781,001 (GRCm39)	Y587C	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
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

Predicted Primers

PCR Primer
(F):5'- GTAACCAAGGTATCCCCAAAAGTAG -3'
(R):5'- GAGAATATTTGGCCCTTCTTGTCC -3'

Sequencing Primer
(F):5'- GGTATCCCCAAAAGTAGATGACTAG -3'
(R):5'- CTTCTCATGTCTTCACAGCTATG -3'

Posted On

2015-04-17