Mutagenetix > Incidental Mutation

Incidental Mutation 'R8768:Ccdc57'

664248

Institutional Source

Beutler Lab

Gene Symbol

Ccdc57

Ensembl Gene

ENSMUSG00000048445

Gene Name

coiled-coil domain containing 57

Synonyms

4933434G05Rik

MMRRC Submission

068623-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8768 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

120717355-120823698 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 120788788 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 353 (R353H)

Ref Sequence

ENSEMBL: ENSMUSP00000050996 (fasta)

Gene Model

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

AlphaFold

Q6PHN1

Predicted Effect

probably benign
Transcript: ENSMUST00000056781
AA Change: R353H

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000050996
Gene: ENSMUSG00000048445
AA Change: R353H

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

Meta Mutation Damage Score

0.1059

Coding Region Coverage

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

Validation Efficiency

99% (76/77)

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr1b	A	T	1: 36,740,588 (GRCm39)	C222S	probably benign	Het
Actrt3	T	G	3: 30,651,992 (GRCm39)	R367S	probably damaging	Het
Alg1	T	C	16: 5,060,416 (GRCm39)	V379A	probably damaging	Het
Ankrd36	A	G	11: 5,593,763 (GRCm39)	E456G	probably benign	Het
Arhgef33	G	T	17: 80,681,148 (GRCm39)	A763S	possibly damaging	Het
Armc5	T	G	7: 127,841,783 (GRCm39)	V597G	probably benign	Het
Asb10	G	T	5: 24,738,690 (GRCm39)	R456S	probably damaging	Het
Asph	A	G	4: 9,453,417 (GRCm39)	F702L	probably damaging	Het
Atf7	T	A	15: 102,449,324 (GRCm39)	T326S	probably benign	Het
Atxn7l2	T	C	3: 108,114,250 (GRCm39)	N171D	probably benign	Het
BC049715	T	A	6: 136,816,979 (GRCm39)	M73K	possibly damaging	Het
C2cd6	A	G	1: 59,105,312 (GRCm39)	V322A	probably benign	Het
Cadps2	A	C	6: 23,382,938 (GRCm39)	C807W	probably damaging	Het
Ccdc89	T	C	7: 90,075,793 (GRCm39)	M1T	probably null	Het
Cntn1	G	A	15: 92,132,347 (GRCm39)	V148M	probably damaging	Het
Csmd3	T	A	15: 47,561,572 (GRCm39)	I1335F		Het
Dap3	A	G	3: 88,834,334 (GRCm39)	M294T	probably damaging	Het
Dbh	A	G	2: 27,060,328 (GRCm39)	D168G	probably benign	Het
Dchs2	C	A	3: 83,253,592 (GRCm39)	A2334E	probably benign	Het
Dcun1d4	T	A	5: 73,678,310 (GRCm39)	Y102N	probably benign	Het
Dhtkd1	T	C	2: 5,903,533 (GRCm39)	T918A	probably benign	Het
Dmgdh	C	T	13: 93,825,118 (GRCm39)	T147I	possibly damaging	Het
Dmxl2	T	G	9: 54,301,105 (GRCm39)	K2335N	possibly damaging	Het
Efna5	T	C	17: 63,188,125 (GRCm39)	M1V	probably null	Het
Fpr-rs3	T	C	17: 20,844,944 (GRCm39)	N66D	probably damaging	Het
Gas2l2	C	A	11: 83,313,999 (GRCm39)	A438S	probably benign	Het
Hivep3	T	C	4: 119,989,521 (GRCm39)	S1991P	probably damaging	Het
Hsp90b1	A	T	10: 86,541,169 (GRCm39)		probably null	Het
Iars1	T	A	13: 49,878,102 (GRCm39)	N875K	probably damaging	Het
Jag1	A	C	2: 136,943,521 (GRCm39)	M225R	possibly damaging	Het
Jag1	T	C	2: 136,932,708 (GRCm39)		probably benign	Het
Kcnn2	C	T	18: 45,692,502 (GRCm39)	S26L	possibly damaging	Het
Kctd2	T	C	11: 115,311,279 (GRCm39)	S96P	probably damaging	Het
Klhl25	A	G	7: 75,516,359 (GRCm39)	N422D	probably damaging	Het
Lhx8	A	T	3: 154,027,886 (GRCm39)	V222E	possibly damaging	Het
Lrig1	A	T	6: 94,631,840 (GRCm39)	V120D	possibly damaging	Het
Manba	T	A	3: 135,256,995 (GRCm39)	S553T	probably damaging	Het
Mllt10	T	A	2: 18,167,583 (GRCm39)	S503T	probably damaging	Het
Nxpe4	A	G	9: 48,304,050 (GRCm39)	N46D	probably benign	Het
Or1l4b	C	T	2: 37,037,016 (GRCm39)	S264L	probably benign	Het
Or8b50	A	C	9: 38,518,441 (GRCm39)	K227Q	probably benign	Het
Pdzd2	C	T	15: 12,437,252 (GRCm39)	E450K	probably damaging	Het
Phrf1	T	A	7: 140,838,651 (GRCm39)	F615L	unknown	Het
Plch2	C	A	4: 155,083,324 (GRCm39)	G538V	probably damaging	Het
Ppp2r2d	T	A	7: 138,475,897 (GRCm39)	I235N	probably damaging	Het
Prdm15	A	T	16: 97,638,888 (GRCm39)	D57E	probably benign	Het
Psd3	T	C	8: 68,417,003 (GRCm39)	D45G	probably damaging	Het
Ptger4	T	A	15: 5,272,138 (GRCm39)	R185S	probably benign	Het
Ptp4a2	T	A	4: 129,740,299 (GRCm39)	M121K	probably damaging	Het
Ptpre	T	G	7: 135,283,306 (GRCm39)	F659V	possibly damaging	Het
Rad54l2	T	G	9: 106,596,809 (GRCm39)	D199A	probably benign	Het
Rap1gds1	T	C	3: 138,647,521 (GRCm39)	M556V	probably benign	Het
Scaf8	T	C	17: 3,243,349 (GRCm39)	V711A	probably benign	Het
Sesn3	G	A	9: 14,225,964 (GRCm39)	C233Y	probably damaging	Het
Slc45a1	T	A	4: 150,714,206 (GRCm39)	I680F	probably damaging	Het
Slco1a6	C	T	6: 142,078,897 (GRCm39)	V133M	probably benign	Het
Syt6	T	C	3: 103,492,850 (GRCm39)	L119P	probably benign	Het
Szt2	A	C	4: 118,226,613 (GRCm39)	S2974R	unknown	Het
Taok1	A	T	11: 77,444,712 (GRCm39)	H454Q	probably damaging	Het
Tbx10	G	A	19: 4,047,303 (GRCm39)	V136M	probably damaging	Het
Tespa1	A	G	10: 130,198,027 (GRCm39)	T350A	probably benign	Het
Tnks1bp1	T	A	2: 84,900,980 (GRCm39)	Y1562*	probably null	Het
Trank1	T	A	9: 111,218,344 (GRCm39)	F1908Y	probably benign	Het
Trav6d-4	A	T	14: 52,991,243 (GRCm39)	H96L	possibly damaging	Het
Tspoap1	T	C	11: 87,669,197 (GRCm39)	I1490T	probably benign	Het
Ttc21a	T	C	9: 119,770,286 (GRCm39)	F119S	probably damaging	Het
Ttll3	T	G	6: 113,385,949 (GRCm39)	M594R	probably damaging	Het
Ttn	T	A	2: 76,798,790 (GRCm39)	R495*	probably null	Het
Twf1	A	C	15: 94,479,110 (GRCm39)	L250V	probably damaging	Het
Ubr4	A	T	4: 139,149,076 (GRCm39)	E458D		Het
Unc50	T	C	1: 37,476,244 (GRCm39)	F135L	probably benign	Het
Vwa3a	T	A	7: 120,375,299 (GRCm39)	I371N	probably damaging	Het
Zfp180	T	C	7: 23,805,161 (GRCm39)	S527P	probably damaging	Het
Zfp512	T	A	5: 31,630,882 (GRCm39)	I408N	probably damaging	Het
Zfp57	A	G	17: 37,317,077 (GRCm39)	T52A	probably benign	Het
Zranb2	A	G	3: 157,247,327 (GRCm39)		probably benign	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
R8273:Ccdc57	UTSW	11	120,812,599 (GRCm39)	missense	probably damaging	1.00
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
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'- TCTTGTCTGCAGGAAACACTCAG -3'
(R):5'- AACAGTAGCTTGGCTGGCTG -3'

Sequencing Primer
(F):5'- ACTCAGCATGGGTGACTGC -3'
(R):5'- GCTGGATGTTTCTTCCTGAGTAGAAC -3'

Posted On

2021-03-08