Mutagenetix > Incidental Mutation

Incidental Mutation 'R0053:Ccdc54'

18466

Institutional Source

Beutler Lab

Gene Symbol

Ccdc54

Ensembl Gene

ENSMUSG00000050685

Gene Name

coiled-coil domain containing 54

Synonyms

1700007N18Rik

MMRRC Submission

038347-MU

Accession Numbers

Essential gene?

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

Stock #

R0053 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

50410222-50411517 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 50410597 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 223 (N223I)

Ref Sequence

ENSEMBL: ENSMUSP00000049864 (fasta)

Gene Model

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

AlphaFold

Q9DAL3

Predicted Effect

probably benign
Transcript: ENSMUST00000062439
AA Change: N223I

PolyPhen 2 Score 0.233 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000049864
Gene: ENSMUSG00000050685
AA Change: N223I

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231324

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 89.7%
3x: 87.2%
10x: 81.1%
20x: 72.5%

Validation Efficiency

94% (72/77)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp10b	A	G	11: 43,107,391 (GRCm39)		probably benign	Het
AY761185	A	T	8: 21,434,546 (GRCm39)		probably benign	Het
BC048671	G	A	6: 90,282,076 (GRCm39)	V78I	probably benign	Het
Cadm1	C	T	9: 47,710,712 (GRCm39)	T205I	probably damaging	Het
Capn3	A	G	2: 120,322,318 (GRCm39)	I413V	possibly damaging	Het
Cblb	C	T	16: 51,963,164 (GRCm39)	T369I	probably damaging	Het
Cdc25c	A	G	18: 34,868,488 (GRCm39)	V294A	probably benign	Het
Cep170	A	T	1: 176,609,946 (GRCm39)	S122T	possibly damaging	Het
Chd1	A	G	17: 15,967,451 (GRCm39)	N849D	probably damaging	Het
Cspg4b	T	C	13: 113,505,023 (GRCm39)	W2051R	probably benign	Het
Dst	A	G	1: 34,333,631 (GRCm39)		probably null	Het
Fbxw9	T	A	8: 85,791,083 (GRCm39)	L250Q	probably damaging	Het
Fry	C	A	5: 150,384,842 (GRCm39)		probably benign	Het
Gm19993	A	G	1: 19,905,272 (GRCm39)			Het
Gpr75	A	T	11: 30,842,571 (GRCm39)	Q492L	possibly damaging	Het
Hc	C	T	2: 34,947,287 (GRCm39)	E76K	probably benign	Het
Hivep2	T	C	10: 14,007,865 (GRCm39)	C1488R	probably damaging	Het
Inava	C	T	1: 136,155,288 (GRCm39)	V106I	probably benign	Het
Insr	A	G	8: 3,205,683 (GRCm39)	S1369P	probably damaging	Het
Insrr	A	C	3: 87,707,759 (GRCm39)	D67A	probably damaging	Het
Irf2	T	A	8: 47,271,886 (GRCm39)	Y158N	probably benign	Het
Izumo3	A	T	4: 92,033,267 (GRCm39)	Y110N	probably damaging	Het
Katnbl1	A	G	2: 112,234,586 (GRCm39)	R23G	probably benign	Het
Kif7	A	G	7: 79,351,927 (GRCm39)	V945A	probably benign	Het
Lamb2	T	A	9: 108,363,936 (GRCm39)	C987*	probably null	Het
Mmp14	T	A	14: 54,676,109 (GRCm39)		probably benign	Het
Mycbpap	A	G	11: 94,402,562 (GRCm39)	Y258H	probably damaging	Het
Nav3	A	G	10: 109,602,778 (GRCm39)		probably benign	Het
Nr5a1	C	T	2: 38,584,178 (GRCm39)	G414R	probably damaging	Het
Parp10	T	A	15: 76,126,446 (GRCm39)	L247F	probably damaging	Het
Pcsk6	C	T	7: 65,633,451 (GRCm39)		probably benign	Het
Pgap3	A	T	11: 98,281,924 (GRCm39)	V129D	probably benign	Het
Plcb1	A	G	2: 135,136,835 (GRCm39)	E310G	probably benign	Het
Plin3	T	C	17: 56,586,892 (GRCm39)	D385G	probably damaging	Het
Pole	A	T	5: 110,441,206 (GRCm39)	D220V	probably damaging	Het
Resf1	T	A	6: 149,229,088 (GRCm39)	D711E	probably benign	Het
Rufy1	A	T	11: 50,292,292 (GRCm39)	M499K	probably benign	Het
Scn1a	T	G	2: 66,130,119 (GRCm39)	D1232A	probably benign	Het
Sf3b1	G	A	1: 55,039,532 (GRCm39)	Q698*	probably null	Het
Shprh	A	T	10: 11,070,116 (GRCm39)		probably null	Het
Snd1	C	A	6: 28,745,334 (GRCm39)		probably benign	Het
Stab1	C	T	14: 30,862,644 (GRCm39)	A2260T	possibly damaging	Het
Strn	T	C	17: 78,964,363 (GRCm39)	H687R	possibly damaging	Het
Tgfb3	A	T	12: 86,124,603 (GRCm39)	I35N	probably damaging	Het
Tnks2	T	C	19: 36,852,765 (GRCm39)	S166P	probably damaging	Het
Ttll9	A	T	2: 152,804,426 (GRCm39)		probably benign	Het
Tyw5	G	A	1: 57,440,597 (GRCm39)	T55M	probably damaging	Het
Usp19	A	G	9: 108,374,369 (GRCm39)		probably null	Het
Wdfy3	A	T	5: 101,992,480 (GRCm39)	M3384K	probably damaging	Het
Zfp13	A	T	17: 23,795,122 (GRCm39)	I483N	probably damaging	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
PIT4544001:Ccdc54	UTSW	16	50,410,343 (GRCm39)	missense	possibly damaging	0.66
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

Posted On

2013-03-25