Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00763:Ccdc81'

9452

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ccdc81

Ensembl Gene

ENSMUSG00000039391

Gene Name

coiled-coil domain containing 81

Synonyms

4921513D09Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.142) question?

Stock #

IGL00763

Quality Score

Status

Chromosome

Chromosomal Location

89515356-89552837 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 89518823 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000117788 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041195] [ENSMUST00000131966]

AlphaFold

Q9D5W4

Predicted Effect

probably benign
Transcript: ENSMUST00000041195

SMART Domains

Protein: ENSMUSP00000044087
Gene: ENSMUSG00000039391

Domain	Start	End	E-Value	Type
Pfam:DUF4496	29	165	2.7e-47	PFAM
low complexity region	224	233	N/A	INTRINSIC
low complexity region	344	355	N/A	INTRINSIC
coiled coil region	434	468	N/A	INTRINSIC
low complexity region	623	631	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000131966

SMART Domains

Protein: ENSMUSP00000117788
Gene: ENSMUSG00000039391

Domain	Start	End	E-Value	Type
Pfam:DUF4496	28	165	2e-41	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bmp3	A	C	5: 99,020,238 (GRCm39)	R220S	possibly damaging	Het
Bms1	A	G	6: 118,395,363 (GRCm39)		probably benign	Het
Ccdc138	T	A	10: 58,411,537 (GRCm39)	F635Y	probably damaging	Het
Cntnap5a	T	C	1: 116,045,407 (GRCm39)	I341T	possibly damaging	Het
Cog5	C	T	12: 31,715,531 (GRCm39)		probably benign	Het
Dcaf4	G	A	12: 83,586,107 (GRCm39)	R358H	probably damaging	Het
Ddx10	A	C	9: 53,071,326 (GRCm39)		probably benign	Het
Fgf15	T	A	7: 144,453,629 (GRCm39)	F201I	probably damaging	Het
Galp	A	G	7: 6,211,499 (GRCm39)	Y40C	probably damaging	Het
Ints6	A	G	14: 62,938,314 (GRCm39)		probably benign	Het
Iqcb1	A	T	16: 36,676,649 (GRCm39)		probably benign	Het
Kif19a	G	A	11: 114,657,994 (GRCm39)	V18I	probably benign	Het
Lypd8l	T	G	11: 58,503,707 (GRCm39)		probably benign	Het
Morc1	A	C	16: 48,432,689 (GRCm39)	Q719P	probably damaging	Het
Pla2g4a	T	C	1: 149,727,076 (GRCm39)	D568G	probably damaging	Het
Plscr4	A	G	9: 92,366,998 (GRCm39)	E204G	probably null	Het
Rasgrf1	A	G	9: 89,853,073 (GRCm39)	T403A	probably benign	Het
Sec16b	A	G	1: 157,356,827 (GRCm39)	T12A	probably benign	Het
Slc12a7	A	T	13: 73,942,201 (GRCm39)	N359I	possibly damaging	Het
Slc14a2	G	T	18: 78,235,453 (GRCm39)	D241E	probably damaging	Het
Slc23a2	G	T	2: 131,943,420 (GRCm39)	A27E	probably benign	Het
Slc38a8	T	C	8: 120,220,958 (GRCm39)	I200M	probably benign	Het
Thrap3	C	T	4: 126,059,371 (GRCm39)	G892S	probably benign	Het
Tmc6	A	G	11: 117,669,872 (GRCm39)	L20P	probably damaging	Het
Tnfsfm13	T	C	11: 69,575,536 (GRCm39)	D256G	probably benign	Het
Tonsl	C	T	15: 76,518,068 (GRCm39)	A605T	probably damaging	Het
Usp28	A	G	9: 48,939,463 (GRCm39)	T240A	probably benign	Het
Zap70	A	T	1: 36,818,333 (GRCm39)	D340V	possibly damaging	Het
Zfp512b	A	T	2: 181,231,944 (GRCm39)	F100I	probably damaging	Het

Other mutations in Ccdc81

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01948:Ccdc81	APN	7	89,525,063 (GRCm39)	missense	possibly damaging	0.80
IGL02177:Ccdc81	APN	7	89,524,988 (GRCm39)	missense	possibly damaging	0.94
IGL02396:Ccdc81	APN	7	89,530,857 (GRCm39)	missense	probably benign
IGL02420:Ccdc81	APN	7	89,524,946 (GRCm39)	missense	probably benign	0.16
IGL02536:Ccdc81	APN	7	89,526,788 (GRCm39)	splice site	probably benign
IGL03195:Ccdc81	APN	7	89,545,916 (GRCm39)	missense	probably benign	0.05
IGL03397:Ccdc81	APN	7	89,546,036 (GRCm39)	missense	probably damaging	1.00
I0000:Ccdc81	UTSW	7	89,547,259 (GRCm39)	missense	probably damaging	1.00
R0089:Ccdc81	UTSW	7	89,542,324 (GRCm39)	missense	possibly damaging	0.87
R0409:Ccdc81	UTSW	7	89,535,423 (GRCm39)	missense	probably benign	0.01
R0449:Ccdc81	UTSW	7	89,539,679 (GRCm39)	missense	probably damaging	1.00
R0490:Ccdc81	UTSW	7	89,536,970 (GRCm39)	missense	probably benign	0.28
R0511:Ccdc81	UTSW	7	89,542,504 (GRCm39)	missense	probably damaging	1.00
R0562:Ccdc81	UTSW	7	89,552,437 (GRCm39)	missense	probably benign	0.02
R0801:Ccdc81	UTSW	7	89,536,866 (GRCm39)	splice site	probably null
R0944:Ccdc81	UTSW	7	89,515,777 (GRCm39)	missense	probably damaging	0.99
R1006:Ccdc81	UTSW	7	89,515,769 (GRCm39)	missense	probably benign	0.03
R1334:Ccdc81	UTSW	7	89,515,769 (GRCm39)	missense	probably benign	0.03
R1526:Ccdc81	UTSW	7	89,525,081 (GRCm39)	missense	probably damaging	0.99
R1623:Ccdc81	UTSW	7	89,535,390 (GRCm39)	missense	probably benign	0.00
R1753:Ccdc81	UTSW	7	89,515,769 (GRCm39)	missense	probably benign	0.03
R1885:Ccdc81	UTSW	7	89,515,819 (GRCm39)	missense	possibly damaging	0.80
R1886:Ccdc81	UTSW	7	89,515,819 (GRCm39)	missense	possibly damaging	0.80
R1887:Ccdc81	UTSW	7	89,515,819 (GRCm39)	missense	possibly damaging	0.80
R1889:Ccdc81	UTSW	7	89,531,502 (GRCm39)	nonsense	probably null
R1964:Ccdc81	UTSW	7	89,535,361 (GRCm39)	missense	probably benign
R1997:Ccdc81	UTSW	7	89,547,271 (GRCm39)	missense	probably damaging	1.00
R3725:Ccdc81	UTSW	7	89,515,838 (GRCm39)	missense	possibly damaging	0.95
R5494:Ccdc81	UTSW	7	89,526,781 (GRCm39)	missense	probably damaging	1.00
R5660:Ccdc81	UTSW	7	89,542,337 (GRCm39)	missense	probably benign
R6275:Ccdc81	UTSW	7	89,531,519 (GRCm39)	missense	possibly damaging	0.59
R6434:Ccdc81	UTSW	7	89,525,352 (GRCm39)	missense	probably damaging	1.00
R6711:Ccdc81	UTSW	7	89,537,006 (GRCm39)	missense	probably damaging	0.98
R7287:Ccdc81	UTSW	7	89,542,331 (GRCm39)	missense	probably damaging	0.98
R7582:Ccdc81	UTSW	7	89,525,353 (GRCm39)	missense	probably damaging	0.99
R7914:Ccdc81	UTSW	7	89,524,988 (GRCm39)	missense	possibly damaging	0.94
R7976:Ccdc81	UTSW	7	89,515,723 (GRCm39)	nonsense	probably null
R7977:Ccdc81	UTSW	7	89,525,319 (GRCm39)	missense	probably damaging	1.00
R7987:Ccdc81	UTSW	7	89,525,319 (GRCm39)	missense	probably damaging	1.00
R7991:Ccdc81	UTSW	7	89,539,609 (GRCm39)	missense	probably benign	0.01
R8002:Ccdc81	UTSW	7	89,525,343 (GRCm39)	missense	probably benign
R8309:Ccdc81	UTSW	7	89,526,786 (GRCm39)	critical splice acceptor site	probably null
R9031:Ccdc81	UTSW	7	89,542,358 (GRCm39)	missense	probably benign	0.03
RF018:Ccdc81	UTSW	7	89,515,906 (GRCm39)	splice site	probably null
X0061:Ccdc81	UTSW	7	89,526,697 (GRCm39)	missense	probably benign	0.00
Z1177:Ccdc81	UTSW	7	89,530,865 (GRCm39)	missense	probably damaging	0.99

Posted On

2012-12-06