Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4544001:Ccdc54'

556428

Institutional Source

Beutler Lab

Gene Symbol

Ccdc54

Ensembl Gene

ENSMUSG00000050685

Gene Name

coiled-coil domain containing 54

Synonyms

1700007N18Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

PIT4544001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

50410222-50411517 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 50410343 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 308 (C308S)

Ref Sequence

ENSEMBL: ENSMUSP00000049864 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062439]

AlphaFold

Q9DAL3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000062439
AA Change: C308S

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000049864
Gene: ENSMUSG00000050685
AA Change: C308S

Domain	Start	End	E-Value	Type
low complexity region	36	45	N/A	INTRINSIC
coiled coil region	79	148	N/A	INTRINSIC

Coding Region Coverage

1x: 92.9%
3x: 90.6%
10x: 84.5%
20x: 71.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	A	G	16: 14,222,943 (GRCm39)	D248G	probably damaging	Het
Abcc12	A	T	8: 87,231,875 (GRCm39)	M1358K	possibly damaging	Het
Adgrl2	C	T	3: 148,596,157 (GRCm39)	E60K	probably damaging	Het
Aff3	C	T	1: 38,249,443 (GRCm39)	A555T	probably benign	Het
Aspn	A	T	13: 49,707,458 (GRCm39)	K106*	probably null	Het
Atp8b3	A	T	10: 80,366,420 (GRCm39)	L281Q	probably benign	Het
Cpa1	T	C	6: 30,641,857 (GRCm39)	V227A	probably benign	Het
Dld	G	A	12: 31,385,556 (GRCm39)	Q262*	probably null	Het
Eif4e3	A	T	6: 99,609,314 (GRCm39)	W161R	probably damaging	Het
Epha5	T	A	5: 84,479,471 (GRCm39)	T178S	possibly damaging	Het
Erbb2	A	T	11: 98,311,865 (GRCm39)	T134S	probably benign	Het
Golga3	A	T	5: 110,336,556 (GRCm39)	E358D	possibly damaging	Het
Gon7	A	T	12: 102,720,409 (GRCm39)	D74E	probably benign	Het
Hmcn2	A	G	2: 31,318,262 (GRCm39)	E3869G	probably damaging	Het
Ifit1bl1	C	T	19: 34,571,415 (GRCm39)	M347I	possibly damaging	Het
Ipo5	T	A	14: 121,165,949 (GRCm39)	D331E	probably damaging	Het
Mep1a	C	T	17: 43,793,178 (GRCm39)	C355Y	probably damaging	Het
Nkain1	A	G	4: 130,532,098 (GRCm38)	S196P	probably damaging	Het
Nudt21	A	T	8: 94,746,225 (GRCm39)	F158I	unknown	Het
Padi3	T	C	4: 140,518,794 (GRCm39)	T443A	probably benign	Het
Parpbp	A	G	10: 87,950,411 (GRCm39)	V323A	possibly damaging	Het
Phkb	A	G	8: 86,738,266 (GRCm39)	I520V	probably benign	Het
Plxna1	A	G	6: 89,334,411 (GRCm39)	S73P	probably benign	Het
Rfk	T	C	19: 17,372,708 (GRCm39)	S77P	probably damaging	Het
Sdk1	A	G	5: 141,941,987 (GRCm39)	N545S	probably benign	Het
Setd2	A	G	9: 110,380,232 (GRCm39)	N1349S	probably damaging	Het
Slc22a27	T	A	19: 7,887,103 (GRCm39)	Q262L	probably damaging	Het
Slc34a3	T	C	2: 25,120,607 (GRCm39)	D440G	probably benign	Het
Slc4a4	T	C	5: 89,186,402 (GRCm39)	L161P	probably damaging	Het
Stxbp5	A	C	10: 9,693,048 (GRCm39)		probably null	Het
Tekt1	C	T	11: 72,245,660 (GRCm39)	R165H	probably damaging	Het
Tmpo	T	C	10: 90,997,976 (GRCm39)	N604D	probably benign	Het
Trpm1	A	T	7: 63,848,998 (GRCm39)		probably benign	Het
Ubqln3	A	C	7: 103,790,550 (GRCm39)	H513Q	probably damaging	Het
Ubr4	A	G	4: 139,129,871 (GRCm39)	N664D	possibly damaging	Het
Usp37	G	A	1: 74,509,738 (GRCm39)	T477I	possibly damaging	Het
Zbtb11	T	G	16: 55,818,556 (GRCm39)	L660*	probably null	Het

Other mutations in Ccdc54

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01517:Ccdc54	APN	16	50,410,280 (GRCm39)	missense	possibly damaging	0.92
IGL01636:Ccdc54	APN	16	50,410,277 (GRCm39)	makesense	probably null
IGL01918:Ccdc54	APN	16	50,411,215 (GRCm39)	nonsense	probably null
IGL03205:Ccdc54	APN	16	50,411,254 (GRCm39)	missense	possibly damaging	0.94
PIT4382001:Ccdc54	UTSW	16	50,411,219 (GRCm39)	missense	probably damaging	0.97
R0053:Ccdc54	UTSW	16	50,410,597 (GRCm39)	missense	probably benign	0.23
R0053:Ccdc54	UTSW	16	50,410,597 (GRCm39)	missense	probably benign	0.23
R0312:Ccdc54	UTSW	16	50,411,165 (GRCm39)	missense	possibly damaging	0.66
R1742:Ccdc54	UTSW	16	50,410,601 (GRCm39)	missense	possibly damaging	0.66
R2054:Ccdc54	UTSW	16	50,410,987 (GRCm39)	missense	probably damaging	0.97
R4594:Ccdc54	UTSW	16	50,410,380 (GRCm39)	nonsense	probably null
R6549:Ccdc54	UTSW	16	50,410,388 (GRCm39)	missense	possibly damaging	0.66
R7034:Ccdc54	UTSW	16	50,410,951 (GRCm39)	missense	probably benign	0.04
R7658:Ccdc54	UTSW	16	50,410,844 (GRCm39)	missense	probably benign	0.09
R7873:Ccdc54	UTSW	16	50,410,672 (GRCm39)	missense	probably benign
R8064:Ccdc54	UTSW	16	50,410,327 (GRCm39)	missense	probably benign	0.00
R9707:Ccdc54	UTSW	16	50,411,163 (GRCm39)	missense	possibly damaging	0.82

Predicted Primers

PCR Primer
(F):5'- ACAGCCAGCAAGCTAGAGTC -3'
(R):5'- CAAAATGCATCAGTGGGTTGC -3'

Sequencing Primer
(F):5'- GCAAGCTAGAGTCCACAGGC -3'
(R):5'- CTGACTTCAGTACATGGATCAAGCTC -3'

Posted On

2019-06-07