Mutagenetix > Incidental Mutation

Incidental Mutation 'R8273:Ccdc57'

637864

Institutional Source

Beutler Lab

Gene Symbol

Ccdc57

Ensembl Gene

ENSMUSG00000048445

Gene Name

coiled-coil domain containing 57

Synonyms

4933434G05Rik

MMRRC Submission

067696-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8273 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

120717355-120823698 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 120812599 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 52 (R52C)

Ref Sequence

ENSEMBL: ENSMUSP00000050996 (fasta)

Gene Model

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

AlphaFold

Q6PHN1

Predicted Effect

probably damaging
Transcript: ENSMUST00000056781
AA Change: R52C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000050996
Gene: ENSMUSG00000048445
AA Change: R52C

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

98% (62/63)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	G	A	3: 137,772,211 (GRCm39)	V467I	probably benign	Het
Ank1	G	A	8: 23,575,668 (GRCm39)	G167E	probably damaging	Het
Ano2	G	A	6: 125,959,683 (GRCm39)	V648M	probably damaging	Het
Ap3b2	A	G	7: 81,112,990 (GRCm39)	C954R	unknown	Het
Atp13a4	T	G	16: 29,290,720 (GRCm39)	Y243S		Het
Bend3	T	G	10: 43,386,899 (GRCm39)	C431G	probably damaging	Het
Ccl22	T	C	8: 95,473,619 (GRCm39)	W55R	probably damaging	Het
Ccnk	A	G	12: 108,152,758 (GRCm39)	Y25C	probably damaging	Het
Cntnap5a	C	T	1: 116,499,271 (GRCm39)	P1174S	probably damaging	Het
Copa	T	C	1: 171,946,546 (GRCm39)		probably null	Het
Copg2	C	T	6: 30,793,061 (GRCm39)	V425M	probably benign	Het
Dnah6	T	A	6: 73,172,664 (GRCm39)	T265S	probably benign	Het
Dnah6	T	C	6: 73,053,582 (GRCm39)	E2936G	probably benign	Het
Dync2i2	A	T	2: 29,921,903 (GRCm39)	V486D	probably damaging	Het
Erc2	A	G	14: 27,499,096 (GRCm39)	D324G	probably benign	Het
F11	T	A	8: 45,701,644 (GRCm39)	H363L	possibly damaging	Het
F7	T	C	8: 13,083,981 (GRCm39)	V222A	probably benign	Het
Fars2	A	G	13: 36,594,093 (GRCm39)	D366G	probably damaging	Het
Fbxl12	C	A	9: 20,550,160 (GRCm39)	R165L	possibly damaging	Het
Flot2	A	G	11: 77,950,021 (GRCm39)	I417V	probably benign	Het
Fmnl1	T	C	11: 103,077,525 (GRCm39)	F295S	probably damaging	Het
Gpr89	G	A	3: 96,812,505 (GRCm39)	T12I	probably benign	Het
Gprc6a	T	C	10: 51,507,370 (GRCm39)	D53G	probably benign	Het
Gtf2e1	T	A	16: 37,343,213 (GRCm39)	I184F	probably damaging	Het
Gtf2h1	G	A	7: 46,454,474 (GRCm39)	R152H	probably benign	Het
Haus3	A	G	5: 34,311,435 (GRCm39)	F532L	probably benign	Het
Inpp4a	A	G	1: 37,407,520 (GRCm39)		probably benign	Het
Klc4	A	T	17: 46,953,080 (GRCm39)	L150Q	possibly damaging	Het
Lzts3	C	T	2: 130,476,801 (GRCm39)	R549Q	possibly damaging	Het
Mbd5	T	A	2: 49,168,891 (GRCm39)	L1354Q	probably damaging	Het
Mtus2	A	G	5: 148,043,815 (GRCm39)	D801G	probably damaging	Het
Muc6	T	A	7: 141,226,795 (GRCm39)	T1411S	unknown	Het
Nalcn	C	A	14: 123,554,436 (GRCm39)	G954C	probably damaging	Het
Nlrp9b	G	A	7: 19,757,986 (GRCm39)	E408K	possibly damaging	Het
Oaz3	A	G	3: 94,342,434 (GRCm39)	L119P	probably damaging	Het
Or2w6	A	G	13: 21,843,377 (GRCm39)	F39L	probably damaging	Het
Pcdhgb5	T	C	18: 37,865,240 (GRCm39)	V345A	probably benign	Het
Pdzph1	A	T	17: 59,280,009 (GRCm39)	Y758N	probably benign	Het
Pea15a	T	A	1: 172,026,812 (GRCm39)	H65L	probably damaging	Het
Pigm	T	A	1: 172,205,524 (GRCm39)	I420N	probably benign	Het
Pign	A	G	1: 105,516,803 (GRCm39)	F580L	probably benign	Het
Pkhd1	T	C	1: 20,607,644 (GRCm39)		probably benign	Het
Plxnc1	T	C	10: 94,649,105 (GRCm39)	N1225D	probably benign	Het
Rbbp6	G	A	7: 122,589,547 (GRCm39)	D412N	probably benign	Het
Rftn1	G	T	17: 50,354,408 (GRCm39)	A318D	probably damaging	Het
Rtl1	A	G	12: 109,559,149 (GRCm39)	Y897H	possibly damaging	Het
Scube2	A	T	7: 109,408,383 (GRCm39)	F688Y	probably benign	Het
Sgo2b	C	A	8: 64,377,735 (GRCm39)	R1166L	unknown	Het
Slc12a2	G	T	18: 58,047,338 (GRCm39)		probably benign	Het
Smpdl3b	T	A	4: 132,465,712 (GRCm39)	H236L	probably damaging	Het
Spata9	C	A	13: 76,125,666 (GRCm39)		probably benign	Het
St6galnac4	A	G	2: 32,477,667 (GRCm39)		probably benign	Het
Stc2	T	A	11: 31,319,777 (GRCm39)	N29I	possibly damaging	Het
Sun5	A	T	2: 153,707,243 (GRCm39)	M145K	possibly damaging	Het
Tas2r106	T	C	6: 131,655,018 (GRCm39)	I278V	probably damaging	Het
Trrap	A	G	5: 144,727,975 (GRCm39)	I565M	probably damaging	Het
Ttl	A	G	2: 128,910,853 (GRCm39)	K79R	probably benign	Het
Ttn	A	T	2: 76,737,721 (GRCm39)	Y4319N	unknown	Het
Usp28	T	C	9: 48,938,182 (GRCm39)	L584P	probably damaging	Het
Wdr27	A	G	17: 15,049,838 (GRCm39)	S777P	probably benign	Het
Wee1	A	G	7: 109,723,691 (GRCm39)	D202G	probably benign	Het
Wnt5a	T	C	14: 28,244,562 (GRCm39)	Y270H	probably damaging	Het
Zfp318	G	A	17: 46,723,301 (GRCm39)	C1768Y	probably damaging	Het

Other mutations in Ccdc57

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00340:Ccdc57	APN	11	120,751,295 (GRCm39)	missense	possibly damaging	0.94
IGL01069:Ccdc57	APN	11	120,752,085 (GRCm39)	missense	probably benign	0.06
IGL02065:Ccdc57	APN	11	120,764,586 (GRCm39)	missense	possibly damaging	0.85
IGL02143:Ccdc57	APN	11	120,752,069 (GRCm39)	nonsense	probably null
R0265:Ccdc57	UTSW	11	120,812,637 (GRCm39)	missense	probably benign	0.00
R1184:Ccdc57	UTSW	11	120,764,637 (GRCm39)	splice site	probably benign
R1792:Ccdc57	UTSW	11	120,788,707 (GRCm39)	missense	possibly damaging	0.82
R1834:Ccdc57	UTSW	11	120,752,045 (GRCm39)	missense	probably benign	0.07
R1852:Ccdc57	UTSW	11	120,812,499 (GRCm39)	missense	probably damaging	0.98
R1914:Ccdc57	UTSW	11	120,794,134 (GRCm39)	splice site	probably benign
R2146:Ccdc57	UTSW	11	120,776,051 (GRCm39)	splice site	probably benign
R2341:Ccdc57	UTSW	11	120,751,349 (GRCm39)	missense	probably benign	0.00
R3013:Ccdc57	UTSW	11	120,752,025 (GRCm39)	missense	probably benign	0.01
R4798:Ccdc57	UTSW	11	120,772,683 (GRCm39)	missense	possibly damaging	0.73
R4821:Ccdc57	UTSW	11	120,751,225 (GRCm39)	critical splice donor site	probably null
R4869:Ccdc57	UTSW	11	120,794,344 (GRCm39)	splice site	probably null
R4964:Ccdc57	UTSW	11	120,751,978 (GRCm39)	missense	probably benign	0.17
R4966:Ccdc57	UTSW	11	120,751,978 (GRCm39)	missense	probably benign	0.17
R5204:Ccdc57	UTSW	11	120,776,888 (GRCm39)	missense	possibly damaging	0.73
R5993:Ccdc57	UTSW	11	120,785,550 (GRCm39)	missense	possibly damaging	0.85
R6072:Ccdc57	UTSW	11	120,792,901 (GRCm39)	missense	probably damaging	0.98
R6404:Ccdc57	UTSW	11	120,785,538 (GRCm39)	missense	probably benign	0.10
R6877:Ccdc57	UTSW	11	120,764,528 (GRCm39)	missense	probably benign	0.00
R7074:Ccdc57	UTSW	11	120,794,200 (GRCm39)	missense	possibly damaging	0.94
R7102:Ccdc57	UTSW	11	120,812,557 (GRCm39)	nonsense	probably null
R7311:Ccdc57	UTSW	11	120,764,567 (GRCm39)	missense	probably benign
R8087:Ccdc57	UTSW	11	120,788,705 (GRCm39)	missense	probably benign
R8111:Ccdc57	UTSW	11	120,769,713 (GRCm39)	missense	probably damaging	0.99
R8164:Ccdc57	UTSW	11	120,788,788 (GRCm39)	missense	probably benign	0.00
R8316:Ccdc57	UTSW	11	120,776,742 (GRCm39)	missense	probably damaging	0.98
R8323:Ccdc57	UTSW	11	120,788,750 (GRCm39)	missense	possibly damaging	0.66
R8388:Ccdc57	UTSW	11	120,717,744 (GRCm39)	missense	probably benign
R8768:Ccdc57	UTSW	11	120,788,788 (GRCm39)	missense	probably benign	0.00
R8957:Ccdc57	UTSW	11	120,776,861 (GRCm39)	missense	probably benign
R9245:Ccdc57	UTSW	11	120,812,578 (GRCm39)	missense	probably damaging	0.99
R9281:Ccdc57	UTSW	11	120,751,413 (GRCm39)	missense	probably benign	0.19
R9422:Ccdc57	UTSW	11	120,764,444 (GRCm39)	missense	possibly damaging	0.94
R9704:Ccdc57	UTSW	11	120,764,531 (GRCm39)	missense	probably damaging	0.98
Z1176:Ccdc57	UTSW	11	120,751,964 (GRCm39)	missense	probably null
Z1176:Ccdc57	UTSW	11	120,751,314 (GRCm39)	missense	possibly damaging	0.89

Predicted Primers

PCR Primer
(F):5'- AACTCCAAGCGATGCTCCTG -3'
(R):5'- TCTAATGGTATGCTACTTGTGTCC -3'

Sequencing Primer
(F):5'- GCTGATGCTGATGCTGCAG -3'
(R):5'- ACTTGTGTCCTTCTTTGCTGCAG -3'

Posted On

2020-07-28