Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01948:Ccdc81'

180991

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 #

IGL01948

Quality Score

Status

Chromosome

Chromosomal Location

89515356-89552837 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 89525063 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 506 (D506G)

Ref Sequence

ENSEMBL: ENSMUSP00000044087 (fasta)

Gene Model

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

AlphaFold

Q9D5W4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000041195
AA Change: D506G

PolyPhen 2 Score 0.799 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000044087
Gene: ENSMUSG00000039391
AA Change: D506G

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: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700109H08Rik	T	C	5: 3,627,326 (GRCm39)	F101L	probably damaging	Het
Cacna1d	T	C	14: 29,846,751 (GRCm39)	T552A	probably damaging	Het
Fam186b	T	C	15: 99,178,327 (GRCm39)	H333R	probably benign	Het
Fam222b	T	C	11: 78,045,165 (GRCm39)	V242A	probably damaging	Het
Gabra2	A	G	5: 71,119,228 (GRCm39)	F425L	probably damaging	Het
Gm10717	A	T	9: 3,025,819 (GRCm39)	T135S	probably damaging	Het
Gm8104	A	T	14: 42,966,607 (GRCm39)	M120L	probably benign	Het
Gsdmc	T	C	15: 63,650,430 (GRCm39)	D308G	probably damaging	Het
Hook3	T	A	8: 26,549,340 (GRCm39)	E168V	possibly damaging	Het
Ighv5-17	T	A	12: 113,823,046 (GRCm39)	E25V	probably damaging	Het
Imp4	T	G	1: 34,483,356 (GRCm39)		probably benign	Het
Ms4a5	A	C	19: 11,256,717 (GRCm39)	M60R	probably damaging	Het
Pisd	C	A	5: 32,896,476 (GRCm39)		probably null	Het
Prokr2	G	T	2: 132,215,603 (GRCm39)	A286E	probably damaging	Het
Ranbp9	T	A	13: 43,576,029 (GRCm39)	Q226L	probably damaging	Het
Scara3	A	G	14: 66,168,261 (GRCm39)	V452A	probably damaging	Het
Tmem38b	C	T	4: 53,850,530 (GRCm39)	P171S	probably damaging	Het
Zdhhc17	G	T	10: 110,782,137 (GRCm39)	T519K	possibly damaging	Het

Other mutations in Ccdc81

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00763:Ccdc81	APN	7	89,518,823 (GRCm39)	splice site	probably benign
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

2014-05-07