Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02388:Ccdc77'

291626

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ccdc77

Ensembl Gene

ENSMUSG00000030177

Gene Name

coiled-coil domain containing 77

Synonyms

2700091N06Rik, 2400002C23Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02388

Quality Score

Status

Chromosome

Chromosomal Location

120301283-120341330 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 120308858 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 301 (A301V)

Ref Sequence

ENSEMBL: ENSMUSP00000108323 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032283] [ENSMUST00000112703] [ENSMUST00000127146] [ENSMUST00000136829] [ENSMUST00000144131] [ENSMUST00000163827]

AlphaFold

Q9CZH8

Predicted Effect

probably benign
Transcript: ENSMUST00000032283
AA Change: A319V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000032283
Gene: ENSMUSG00000030177
AA Change: A319V

Domain	Start	End	E-Value	Type
coiled coil region	57	120	N/A	INTRINSIC
low complexity region	221	235	N/A	INTRINSIC
coiled coil region	346	380	N/A	INTRINSIC
coiled coil region	414	445	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000112703
AA Change: A301V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000108323
Gene: ENSMUSG00000030177
AA Change: A301V

Domain	Start	End	E-Value	Type
coiled coil region	39	102	N/A	INTRINSIC
low complexity region	203	217	N/A	INTRINSIC
internal_repeat_1	258	283	9.62e-5	PROSPERO
internal_repeat_1	321	348	9.62e-5	PROSPERO
low complexity region	352	369	N/A	INTRINSIC
coiled coil region	396	427	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000127146

SMART Domains

Protein: ENSMUSP00000120896
Gene: ENSMUSG00000030177

Domain	Start	End	E-Value	Type
coiled coil region	39	102	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000136829

SMART Domains

Protein: ENSMUSP00000126554
Gene: ENSMUSG00000030177

Domain	Start	End	E-Value	Type
coiled coil region	57	120	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000144131

SMART Domains

Protein: ENSMUSP00000127096
Gene: ENSMUSG00000030177

Domain	Start	End	E-Value	Type
coiled coil region	39	102	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000163827

SMART Domains

Protein: ENSMUSP00000131970
Gene: ENSMUSG00000030177

Domain	Start	End	E-Value	Type
coiled coil region	39	102	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930597O21Rik	A	T	6: 66,873,097 (GRCm39)		probably benign	Het
Abca8a	A	G	11: 109,969,641 (GRCm39)		probably benign	Het
Asphd1	A	T	7: 126,545,884 (GRCm39)		probably benign	Het
Cep350	G	T	1: 155,829,499 (GRCm39)	T135K	probably benign	Het
Chrna7	A	T	7: 62,757,439 (GRCm39)	D153E	probably damaging	Het
Clec4b2	G	T	6: 123,179,187 (GRCm39)		probably null	Het
Cyp2c67	T	C	19: 39,631,799 (GRCm39)	N133D	probably benign	Het
Dglucy	T	C	12: 100,823,257 (GRCm39)	I484T	probably damaging	Het
Dtna	G	T	18: 23,730,571 (GRCm39)	M319I	probably benign	Het
E2f5	T	A	3: 14,653,340 (GRCm39)	M152K	probably benign	Het
Emsy	A	T	7: 98,290,873 (GRCm39)	M58K	probably damaging	Het
Epha1	A	G	6: 42,341,950 (GRCm39)	Y367H	probably damaging	Het
Etv1	A	G	12: 38,831,798 (GRCm39)	S32G	possibly damaging	Het
Fam114a1	A	T	5: 65,166,323 (GRCm39)		probably benign	Het
Fbxo30	T	A	10: 11,166,122 (GRCm39)	N281K	probably benign	Het
Galnt12	G	T	4: 47,117,941 (GRCm39)	R412L	probably damaging	Het
Gm5786	T	A	12: 59,128,382 (GRCm39)		noncoding transcript	Het
Gm9845	T	C	3: 39,412,616 (GRCm39)		noncoding transcript	Het
Hecw2	A	G	1: 53,964,858 (GRCm39)	V656A	probably benign	Het
Hpse2	A	T	19: 43,282,692 (GRCm39)	V187D	probably damaging	Het
Itsn2	T	A	12: 4,679,557 (GRCm39)	M122K	possibly damaging	Het
Kcnj11	A	G	7: 45,749,213 (GRCm39)	S37P	probably benign	Het
Kif13b	T	C	14: 65,037,807 (GRCm39)	I1491T	probably damaging	Het
Krt36	T	A	11: 99,995,990 (GRCm39)	K145*	probably null	Het
Loxhd1	A	G	18: 77,456,833 (GRCm39)	I499V	probably benign	Het
Map3k4	G	T	17: 12,490,497 (GRCm39)	N311K	probably damaging	Het
Mical2	C	A	7: 111,934,620 (GRCm39)	H880N	probably benign	Het
Myo1d	A	T	11: 80,528,823 (GRCm39)	C666*	probably null	Het
Nlrx1	C	T	9: 44,175,302 (GRCm39)	R158H	probably benign	Het
Or10ag53	T	A	2: 87,082,295 (GRCm39)	Y5N	probably benign	Het
Or10q1	C	A	19: 13,726,994 (GRCm39)	H175N	possibly damaging	Het
Or13a17	A	G	7: 140,271,024 (GRCm39)	T69A	probably benign	Het
Or1e21	A	T	11: 73,344,106 (GRCm39)	L311I	probably benign	Het
Or4a78	T	C	2: 89,497,316 (GRCm39)	S305G	probably benign	Het
Pdgfrl	A	G	8: 41,430,094 (GRCm39)	R154G	probably benign	Het
Pitpnb	T	C	5: 111,478,699 (GRCm39)	F7S	possibly damaging	Het
Ppm1n	G	A	7: 19,013,097 (GRCm39)	R285C	probably damaging	Het
Prdm11	A	T	2: 92,805,957 (GRCm39)	I331N	possibly damaging	Het
Ptprb	C	T	10: 116,203,426 (GRCm39)	P2066L	probably damaging	Het
Ric8b	T	C	10: 84,828,135 (GRCm39)		probably benign	Het
Setx	A	G	2: 29,063,665 (GRCm39)	I2320M	probably damaging	Het
Skil	C	A	3: 31,165,787 (GRCm39)	S368*	probably null	Het
Slc1a5	G	T	7: 16,519,644 (GRCm39)		probably null	Het
Trpm7	A	C	2: 126,661,811 (GRCm39)	V1079G	possibly damaging	Het
Tulp1	A	G	17: 28,577,633 (GRCm39)	F2L	probably damaging	Het
Ulbp3	A	T	10: 3,075,050 (GRCm39)		noncoding transcript	Het
Zbtb17	A	G	4: 141,189,224 (GRCm39)	Y48C	probably damaging	Het
Zfp605	T	A	5: 110,275,506 (GRCm39)	I208N	possibly damaging	Het

Other mutations in Ccdc77

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00163:Ccdc77	APN	6	120,306,045 (GRCm39)	unclassified	probably benign
IGL01323:Ccdc77	APN	6	120,311,757 (GRCm39)	missense	probably benign	0.25
IGL02086:Ccdc77	APN	6	120,316,119 (GRCm39)	missense	possibly damaging	0.89
R0576:Ccdc77	UTSW	6	120,308,809 (GRCm39)	missense	probably benign	0.00
R1485:Ccdc77	UTSW	6	120,315,101 (GRCm39)	nonsense	probably null
R2422:Ccdc77	UTSW	6	120,316,120 (GRCm39)	missense	probably benign	0.01
R2497:Ccdc77	UTSW	6	120,302,433 (GRCm39)	missense	possibly damaging	0.62
R4906:Ccdc77	UTSW	6	120,311,796 (GRCm39)	missense	probably damaging	0.98
R5104:Ccdc77	UTSW	6	120,325,346 (GRCm39)	splice site	probably null
R6467:Ccdc77	UTSW	6	120,327,242 (GRCm39)	missense	probably damaging	0.99
R7165:Ccdc77	UTSW	6	120,327,193 (GRCm39)	missense	probably damaging	1.00
R7783:Ccdc77	UTSW	6	120,327,334 (GRCm39)	missense	probably damaging	0.97
R8296:Ccdc77	UTSW	6	120,308,870 (GRCm39)	missense	possibly damaging	0.53
R8695:Ccdc77	UTSW	6	120,318,962 (GRCm39)	missense	probably damaging	0.99

Posted On

2015-04-16