Mutagenetix > Incidental Mutation

Incidental Mutation 'R1481:Ccdc178'

164410

Institutional Source

Beutler Lab

Gene Symbol

Ccdc178

Ensembl Gene

ENSMUSG00000024306

Gene Name

coiled coil domain containing 178

Synonyms

4921528I01Rik

MMRRC Submission

039534-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1481 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21810897-22171396 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 22105621 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 313 (G313D)

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: G313D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000025160
Gene: ENSMUSG00000024306
AA Change: G313D

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: G313D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000111503
Gene: ENSMUSG00000024306
AA Change: G313D

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: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.6%

Validation Efficiency

100% (71/71)

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	T	C	3: 37,008,434	V3365A	probably damaging	Het
Arhgef5	A	G	6: 43,274,634	H773R	probably damaging	Het
Bmp3	G	A	5: 98,872,470	V251M	probably damaging	Het
Ccdc175	C	A	12: 72,101,948		probably benign	Het
Cd300ld2	T	A	11: 115,012,633	I129F	probably benign	Het
Cep170	T	C	1: 176,782,385	Q120R	possibly damaging	Het
Ckb	T	C	12: 111,671,262	H145R	probably benign	Het
Cntnap5a	T	A	1: 116,117,663	N336K	probably damaging	Het
Coil	T	A	11: 88,974,060	C38S	possibly damaging	Het
Cps1	T	C	1: 67,143,882	V133A	probably damaging	Het
Cspg4	A	G	9: 56,887,810	E943G	probably damaging	Het
Cyp2c54	C	T	19: 40,047,588	D293N	probably benign	Het
Cyp2f2	T	C	7: 27,121,877	S72P	probably benign	Het
Dip2c	G	A	13: 9,551,866		probably null	Het
Dock6	T	C	9: 21,820,622	T1158A	probably benign	Het
Dscaml1	G	A	9: 45,672,643	V469I	probably benign	Het
Efcab14	A	G	4: 115,756,517	T221A	probably benign	Het
Ehbp1	T	C	11: 22,006,782	*1207W	probably null	Het
Eln	T	C	5: 134,706,572	K786E	probably damaging	Het
Fyb	C	T	15: 6,619,647	P385S	probably benign	Het
Galr1	A	G	18: 82,405,741	I137T	possibly damaging	Het
Gcm1	A	T	9: 78,059,717	K73*	probably null	Het
Gemin5	T	C	11: 58,141,654	N775D	probably damaging	Het
Gli3	C	T	13: 15,613,850	H147Y	probably damaging	Het
Gm10754	G	T	10: 97,682,227		probably benign	Het
Gpr37	T	C	6: 25,669,138	D569G	probably damaging	Het
Grina	T	A	15: 76,249,089	Y286N	probably damaging	Het
Gtf3c1	C	A	7: 125,693,138		probably null	Het
Kcnc4	C	T	3: 107,448,218	V305M	probably benign	Het
Kntc1	T	C	5: 123,778,275	F724L	probably benign	Het
Kpnb1	T	C	11: 97,178,310	Y249C	probably damaging	Het
Krt6b	T	C	15: 101,678,374	T269A	probably benign	Het
Lamc1	T	C	1: 153,221,634	K1555E	probably damaging	Het
Maneal	T	C	4: 124,861,857	Y104C	probably damaging	Het
Map1b	T	C	13: 99,431,171	T1681A	unknown	Het
Mettl17	T	C	14: 51,890,703	L272P	probably benign	Het
Mib2	T	A	4: 155,656,999	S357C	probably benign	Het
Mmp19	C	A	10: 128,798,178	T316K	possibly damaging	Het
Mroh9	C	T	1: 163,026,509	G774E	probably damaging	Het
Myh1	T	C	11: 67,205,499		probably benign	Het
Ncor2	C	A	5: 125,027,138	E963*	probably null	Het
Nol6	T	A	4: 41,123,596	T51S	probably benign	Het
Nsun3	A	T	16: 62,735,369	C265S	probably damaging	Het
Nup214	C	T	2: 32,034,466	S1669F	probably damaging	Het
Nutm2	T	A	13: 50,469,481	N71K	probably damaging	Het
Olfr498	C	T	7: 108,465,960	T212I	probably benign	Het
Olfr713	T	G	7: 107,036,149	L5R	probably benign	Het
Orc3	T	A	4: 34,607,228	E34V	possibly damaging	Het
Pcdhb13	T	A	18: 37,442,836	L89Q	probably damaging	Het
Polr3a	A	T	14: 24,452,548	V1241E	probably null	Het
Prpf39	C	T	12: 65,053,314	P135S	probably damaging	Het
Psrc1	T	C	3: 108,384,993	V34A	probably benign	Het
Rab27a	G	A	9: 73,082,402	V52M	probably benign	Het
Rassf9	A	G	10: 102,546,034	T424A	probably benign	Het
Ripor3	G	T	2: 168,000,377	R61S	possibly damaging	Het
Ryr3	C	T	2: 112,636,522		probably benign	Het
Samd4b	C	T	7: 28,414,010	G177R	probably damaging	Het
Setbp1	C	T	18: 78,783,301	V1366M	probably benign	Het
Smad1	G	A	8: 79,343,730	A393V	probably benign	Het
Tctn2	T	C	5: 124,607,763		noncoding transcript	Het
Tmem45a	A	T	16: 56,811,602	F218I	possibly damaging	Het
Tpte	A	T	8: 22,355,471	R512S	probably damaging	Het
Trim37	T	A	11: 87,129,759	L22*	probably null	Het
Ttc6	A	G	12: 57,737,130	N1792D	probably damaging	Het
Ttn	A	G	2: 76,945,616	M1694T	probably damaging	Het
Vmn1r181	T	A	7: 23,984,712	W201R	probably damaging	Het
Wdr74	C	T	19: 8,738,228	L198F	possibly damaging	Het
Zfp560	T	C	9: 20,348,790	T259A	probably benign	Het

Other mutations in Ccdc178

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00489:Ccdc178	APN	18	21844911	missense	probably benign	0.05
IGL00743:Ccdc178	APN	18	22145444	splice site	probably benign
IGL00906:Ccdc178	APN	18	22135168	nonsense	probably null
IGL01352:Ccdc178	APN	18	22018974	splice site	probably benign
IGL01553:Ccdc178	APN	18	21915006	missense	probably damaging	0.97
IGL01607:Ccdc178	APN	18	22067721	missense	probably benign	0.01
IGL01733:Ccdc178	APN	18	22024812	splice site	probably benign
IGL01795:Ccdc178	APN	18	22019118	missense	probably benign	0.04
IGL01996:Ccdc178	APN	18	22097756	missense	probably damaging	0.99
IGL02939:Ccdc178	APN	18	22120718	missense	probably benign	0.01
IGL03213:Ccdc178	APN	18	22120691	missense	possibly damaging	0.89
IGL03253:Ccdc178	APN	18	21845011	nonsense	probably null
IGL03331:Ccdc178	APN	18	21811583	splice site	probably null
PIT4520001:Ccdc178	UTSW	18	22067413	missense	probably damaging	0.97
R0121:Ccdc178	UTSW	18	21845024	critical splice acceptor site	probably null
R0153:Ccdc178	UTSW	18	22150435	missense	probably benign	0.00
R0364:Ccdc178	UTSW	18	21915062	missense	probably damaging	0.97
R0604:Ccdc178	UTSW	18	22067443	missense	probably benign	0.01
R0709:Ccdc178	UTSW	18	22067662	missense	probably damaging	0.97
R0961:Ccdc178	UTSW	18	22019041	missense	possibly damaging	0.79
R1029:Ccdc178	UTSW	18	22097725	missense	possibly damaging	0.89
R1456:Ccdc178	UTSW	18	22150424	missense	possibly damaging	0.81
R1596:Ccdc178	UTSW	18	22020873	missense	possibly damaging	0.79
R1739:Ccdc178	UTSW	18	22097723	missense	possibly damaging	0.92
R1838:Ccdc178	UTSW	18	22067638	missense	probably damaging	0.97
R2214:Ccdc178	UTSW	18	21914990	missense	possibly damaging	0.73
R2401:Ccdc178	UTSW	18	22131414	critical splice donor site	probably null
R2679:Ccdc178	UTSW	18	21811556	missense	possibly damaging	0.90
R3051:Ccdc178	UTSW	18	22135131	missense	probably benign	0.05
R3150:Ccdc178	UTSW	18	22067652	missense	possibly damaging	0.95
R3151:Ccdc178	UTSW	18	21811561	missense	probably benign	0.00
R3177:Ccdc178	UTSW	18	22067652	missense	possibly damaging	0.95
R3277:Ccdc178	UTSW	18	22067652	missense	possibly damaging	0.95
R3903:Ccdc178	UTSW	18	22023095	missense	possibly damaging	0.79
R4184:Ccdc178	UTSW	18	22024784	missense	probably damaging	1.00
R4258:Ccdc178	UTSW	18	22017335	splice site	probably null
R4319:Ccdc178	UTSW	18	22033543	nonsense	probably null
R4321:Ccdc178	UTSW	18	22033543	nonsense	probably null
R4323:Ccdc178	UTSW	18	22033543	nonsense	probably null
R4509:Ccdc178	UTSW	18	22067392	missense	possibly damaging	0.94
R4672:Ccdc178	UTSW	18	22150444	nonsense	probably null
R5078:Ccdc178	UTSW	18	22067628	critical splice donor site	probably null
R5099:Ccdc178	UTSW	18	22105591	missense	probably benign
R5679:Ccdc178	UTSW	18	22067429	missense	probably benign
R5683:Ccdc178	UTSW	18	22130122	missense	probably benign	0.00
R6120:Ccdc178	UTSW	18	22097728	missense	probably benign	0.00
R6318:Ccdc178	UTSW	18	22120534	missense	possibly damaging	0.90
R6717:Ccdc178	UTSW	18	22020889	missense	probably damaging	0.98
R6853:Ccdc178	UTSW	18	22109876	missense	probably benign	0.00
R6980:Ccdc178	UTSW	18	22105563	missense	probably benign
R7019:Ccdc178	UTSW	18	22150438	missense	probably benign	0.00
R7246:Ccdc178	UTSW	18	22109754	missense	possibly damaging	0.92
R7322:Ccdc178	UTSW	18	22105549	missense	probably benign	0.15
R7340:Ccdc178	UTSW	18	22017461	missense	probably benign	0.17
R7371:Ccdc178	UTSW	18	22130138	missense	probably benign	0.01
R8003:Ccdc178	UTSW	18	21844887	critical splice donor site	probably null
R8371:Ccdc178	UTSW	18	21811504	missense	possibly damaging	0.90
R8670:Ccdc178	UTSW	18	22097662	missense	possibly damaging	0.89
R8695:Ccdc178	UTSW	18	22024752	missense	probably benign	0.02
R8885:Ccdc178	UTSW	18	22067664	missense	probably damaging	0.98
R9504:Ccdc178	UTSW	18	22105651	missense	possibly damaging	0.89
R9518:Ccdc178	UTSW	18	22145459	missense	possibly damaging	0.92
X0063:Ccdc178	UTSW	18	21844912	missense	probably benign	0.12
Z1177:Ccdc178	UTSW	18	22109731	missense	possibly damaging	0.79

Predicted Primers

PCR Primer
(F):5'- CTTCAGGCGACAGGGAGATACATTG -3'
(R):5'- AGGAAGACAGAACCCTATTCCCTTAGC -3'

Sequencing Primer
(F):5'- CAGGGAGATACATTGCTTTTATGCC -3'
(R):5'- TCCCTTAGCTGTACACATTTAGAG -3'

Posted On

2014-03-28