Mutagenetix > Incidental Mutation

Incidental Mutation 'R2146:Ccdc57'

233853

Institutional Source

Beutler Lab

Gene Symbol

Ccdc57

Ensembl Gene

ENSMUSG00000048445

Gene Name

coiled-coil domain containing 57

Synonyms

4933434G05Rik

MMRRC Submission

040149-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2146 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

120826529-120932872 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 120885225 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000050996 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056781]

AlphaFold

Q6PHN1

Predicted Effect

probably benign
Transcript: ENSMUST00000056781

SMART Domains

Protein: ENSMUSP00000050996
Gene: ENSMUSG00000048445

Domain	Start	End	E-Value	Type
coiled coil region	14	174	N/A	INTRINSIC
coiled coil region	198	350	N/A	INTRINSIC
low complexity region	356	365	N/A	INTRINSIC
coiled coil region	380	489	N/A	INTRINSIC
coiled coil region	519	548	N/A	INTRINSIC
coiled coil region	575	607	N/A	INTRINSIC
low complexity region	620	639	N/A	INTRINSIC
internal_repeat_1	657	677	1.17e-5	PROSPERO
low complexity region	763	774	N/A	INTRINSIC
low complexity region	787	798	N/A	INTRINSIC
internal_repeat_1	863	883	1.17e-5	PROSPERO
low complexity region	915	923	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143895

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

99% (84/85)

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013D24Rik	A	T	6: 124,347,844		probably null	Het
4933406M09Rik	T	A	1: 134,390,513	M341K	probably damaging	Het
9530002B09Rik	T	A	4: 122,689,405	C13*	probably null	Het
Abca12	C	A	1: 71,263,488	V2191L	probably benign	Het
Adamts18	G	C	8: 113,845,003	A116G	possibly damaging	Het
Anxa2	TCCC	TCC	9: 69,489,754		probably null	Het
Arfgef1	C	T	1: 10,199,878	A349T	probably benign	Het
Arhgap6	A	G	X: 168,796,500	T94A	probably benign	Het
Arhgef5	T	C	6: 43,283,318	S1413P	probably damaging	Het
Atg4c	C	A	4: 99,221,226	N143K	possibly damaging	Het
BC005561	T	C	5: 104,518,991	F460L	probably benign	Het
C1qtnf12	A	G	4: 155,966,465	N297S	probably benign	Het
Cadps2	G	T	6: 23,838,999		probably benign	Het
Ccdc185	G	T	1: 182,747,520	H535N	possibly damaging	Het
Cd163	A	G	6: 124,309,208	H239R	probably damaging	Het
Ceacam2	G	T	7: 25,527,943	C166*	probably null	Het
Ces5a	T	A	8: 93,534,699	E33D	probably benign	Het
Chl1	T	C	6: 103,715,401		probably null	Het
Chsy3	G	A	18: 59,176,472	V266I	probably benign	Het
Cpa5	G	T	6: 30,626,822	R251L	probably damaging	Het
Cps1	A	C	1: 67,152,379		probably benign	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,741,236		probably null	Het
Cstf1	T	C	2: 172,375,763	Y99H	probably damaging	Het
Cyp2j11	G	A	4: 96,316,358	T317I	probably damaging	Het
Dennd3	C	T	15: 73,523,496	T146M	probably damaging	Het
Dennd3	A	T	15: 73,555,060	H762L	probably benign	Het
Dnah2	T	C	11: 69,515,761	M552V	probably benign	Het
Dnajc22	T	C	15: 99,104,383	V303A	probably benign	Het
Dtx2	T	G	5: 136,030,610	L458R	probably benign	Het
Elmsan1	G	T	12: 84,173,035	P382T	probably damaging	Het
Fat3	A	T	9: 15,990,512	F3072L	probably benign	Het
Fgf5	T	C	5: 98,275,550	*265R	probably null	Het
Fndc11	A	G	2: 181,222,125	E241G	probably damaging	Het
Glb1	T	C	9: 114,450,648	Y375H	probably damaging	Het
Gm4922	T	G	10: 18,783,516	Q486P	probably benign	Het
Gm5786	A	T	12: 59,081,298		noncoding transcript	Het
Hepacam2	A	T	6: 3,463,378		probably benign	Het
Ints9	G	A	14: 64,986,343	G89R	possibly damaging	Het
Iqcm	T	A	8: 75,888,613	W441R	probably damaging	Het
Itga10	T	C	3: 96,651,492	L382P	possibly damaging	Het
Itga10	G	T	3: 96,653,723	G635W	probably damaging	Het
Kbtbd2	A	G	6: 56,779,090	Y554H	probably damaging	Het
Kif1b	T	C	4: 149,184,309	K1649R	probably damaging	Het
L1cam	A	T	X: 73,861,141	F536Y	probably damaging	Het
Magee1	A	T	X: 105,122,958	D783V	probably damaging	Het
Marveld3	A	T	8: 109,959,802	V144E	probably benign	Het
Mcam	T	C	9: 44,136,635	V59A	probably damaging	Het
Mdga2	C	T	12: 66,868,741	E47K	probably damaging	Het
Metrn	T	A	17: 25,796,627	E38V	probably damaging	Het
Mfrp	T	C	9: 44,103,718	L314P	probably benign	Het
Mospd2	A	G	X: 164,956,477		probably null	Het
Mycbp2	G	A	14: 103,155,922	H3068Y	probably damaging	Het
Myh6	C	T	14: 54,953,771	R871H	probably damaging	Het
Nup214	C	T	2: 32,034,466	S1669F	probably damaging	Het
Olfr1104	T	A	2: 87,021,665	N293I	probably damaging	Het
Olfr1465	T	C	19: 13,314,121	T55A	probably benign	Het
Olfr156	A	G	4: 43,821,178	F61S	probably damaging	Het
Parvb	A	G	15: 84,232,168	K33E	possibly damaging	Het
Pdcd11	A	G	19: 47,104,752	M490V	probably benign	Het
Pet2	T	C	X: 89,406,277	D82G	possibly damaging	Het
Pkd2	A	C	5: 104,455,590		probably benign	Het
Reps1	T	A	10: 18,093,313	D206E	probably benign	Het
Rimkla	T	A	4: 119,474,582	M140L	possibly damaging	Het
Rnf13	T	G	3: 57,802,486	I150S	probably null	Het
Rxfp4	C	T	3: 88,652,893	A84T	probably damaging	Het
Serpinb8	T	A	1: 107,605,927	D237E	probably benign	Het
Sgo2b	T	G	8: 63,928,023	T592P	probably benign	Het
Slc35d1	A	T	4: 103,205,152	I228N	probably damaging	Het
Slc39a1	T	G	3: 90,249,450	H104Q	probably benign	Het
Slc6a6	T	C	6: 91,735,180	V230A	probably benign	Het
Slc9a3	A	G	13: 74,121,603	E30G	probably benign	Het
Slc9c1	A	G	16: 45,593,464	Y985C	probably benign	Het
Supt6	A	G	11: 78,230,932	F298S	probably damaging	Het
Tada2a	T	C	11: 84,079,629	D432G	probably damaging	Het
Tmem131	C	A	1: 36,812,609	V938L	probably benign	Het
Tnpo3	A	G	6: 29,589,036	V105A	probably benign	Het
Ttc7	T	C	17: 87,346,707		probably benign	Het
Ttn	T	C	2: 76,897,188		probably benign	Het
Usp16	T	C	16: 87,473,187		probably null	Het
Usp36	A	G	11: 118,268,665	L486S	probably benign	Het
Uty	T	C	Y: 1,239,816	I72V	probably benign	Het
Vps51	A	G	19: 6,068,134	V777A	probably benign	Het
Zfp160	A	G	17: 21,026,982	K598R	probably benign	Het
Zfp39	T	C	11: 58,890,332	N535D	probably benign	Het
Zfp804a	A	G	2: 82,258,664	T946A	probably benign	Het

Other mutations in Ccdc57

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00340:Ccdc57	APN	11	120860469	missense	possibly damaging	0.94
IGL01069:Ccdc57	APN	11	120861259	missense	probably benign	0.06
IGL02065:Ccdc57	APN	11	120873760	missense	possibly damaging	0.85
IGL02143:Ccdc57	APN	11	120861243	nonsense	probably null
R0265:Ccdc57	UTSW	11	120921811	missense	probably benign	0.00
R1184:Ccdc57	UTSW	11	120873811	splice site	probably benign
R1792:Ccdc57	UTSW	11	120897881	missense	possibly damaging	0.82
R1834:Ccdc57	UTSW	11	120861219	missense	probably benign	0.07
R1852:Ccdc57	UTSW	11	120921673	missense	probably damaging	0.98
R1914:Ccdc57	UTSW	11	120903308	splice site	probably benign
R2341:Ccdc57	UTSW	11	120860523	missense	probably benign	0.00
R3013:Ccdc57	UTSW	11	120861199	missense	probably benign	0.01
R4798:Ccdc57	UTSW	11	120881857	missense	possibly damaging	0.73
R4821:Ccdc57	UTSW	11	120860399	critical splice donor site	probably null
R4869:Ccdc57	UTSW	11	120903518	splice site	probably null
R4964:Ccdc57	UTSW	11	120861152	missense	probably benign	0.17
R4966:Ccdc57	UTSW	11	120861152	missense	probably benign	0.17
R5204:Ccdc57	UTSW	11	120886062	missense	possibly damaging	0.73
R5993:Ccdc57	UTSW	11	120894724	missense	possibly damaging	0.85
R6072:Ccdc57	UTSW	11	120902075	missense	probably damaging	0.98
R6404:Ccdc57	UTSW	11	120894712	missense	probably benign	0.10
R6877:Ccdc57	UTSW	11	120873702	missense	probably benign	0.00
R7074:Ccdc57	UTSW	11	120903374	missense	possibly damaging	0.94
R7102:Ccdc57	UTSW	11	120921731	nonsense	probably null
R7311:Ccdc57	UTSW	11	120873741	missense	probably benign
R8087:Ccdc57	UTSW	11	120897879	missense	probably benign
R8111:Ccdc57	UTSW	11	120878887	missense	probably damaging	0.99
R8164:Ccdc57	UTSW	11	120897962	missense	probably benign	0.00
R8273:Ccdc57	UTSW	11	120921773	missense	probably damaging	1.00
R8316:Ccdc57	UTSW	11	120885916	missense	probably damaging	0.98
R8323:Ccdc57	UTSW	11	120897924	missense	possibly damaging	0.66
R8388:Ccdc57	UTSW	11	120826918	missense	probably benign
R8768:Ccdc57	UTSW	11	120897962	missense	probably benign	0.00
R8957:Ccdc57	UTSW	11	120886035	missense	probably benign
R9245:Ccdc57	UTSW	11	120921752	missense	probably damaging	0.99
R9281:Ccdc57	UTSW	11	120860587	missense	probably benign	0.19
R9422:Ccdc57	UTSW	11	120873618	missense	possibly damaging	0.94
R9704:Ccdc57	UTSW	11	120873705	missense	probably damaging	0.98
Z1176:Ccdc57	UTSW	11	120860488	missense	possibly damaging	0.89
Z1176:Ccdc57	UTSW	11	120861138	missense	probably null

Predicted Primers

PCR Primer
(F):5'- GCATTTGGAAGACTTGCCTGAG -3'
(R):5'- CCTCGTGTCTTGGCAGATTATG -3'

Sequencing Primer
(F):5'- AAACAGGGTTTCTCTGTGTAGCCC -3'
(R):5'- GTTCTGACCCTTGAAGCAGAAATGC -3'

Posted On

2014-10-01