Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01323:Ccdc77'

74118

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 #

IGL01323

Quality Score

Status

Chromosome

Chromosomal Location

120301283-120341330 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 120311757 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 247 (Q247R)

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: Q265R

PolyPhen 2 Score 0.247 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000032283
Gene: ENSMUSG00000030177
AA Change: Q265R

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: Q247R

PolyPhen 2 Score 0.247 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000108323
Gene: ENSMUSG00000030177
AA Change: Q247R

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

noncoding transcript
Transcript: ENSMUST00000123114

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
AA Change: Q195R

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000131970
Gene: ENSMUSG00000030177
AA Change: Q195R

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arfgef2	A	G	2: 166,713,415 (GRCm39)	D1272G	probably damaging	Het
Ascl2	A	G	7: 142,522,125 (GRCm39)	S108P	probably benign	Het
B3gat1	T	C	9: 26,667,206 (GRCm39)	V146A	possibly damaging	Het
Barhl1	C	T	2: 28,805,558 (GRCm39)	S45N	probably benign	Het
Birc6	C	T	17: 74,929,920 (GRCm39)	A2370V	probably damaging	Het
C1qtnf7	A	G	5: 43,766,602 (GRCm39)	D67G	possibly damaging	Het
Cand2	A	G	6: 115,762,086 (GRCm39)	T171A	probably benign	Het
Cenpp	A	T	13: 49,801,118 (GRCm39)	V100D	probably damaging	Het
Cep135	A	G	5: 76,739,612 (GRCm39)	T3A	probably benign	Het
Eef2k	T	C	7: 120,484,038 (GRCm39)		probably benign	Het
Fga	T	C	3: 82,937,518 (GRCm39)	S132P	probably damaging	Het
Gpr6	T	A	10: 40,947,555 (GRCm39)	N9I	possibly damaging	Het
Gvin2	A	G	7: 105,546,009 (GRCm39)	S2348P	possibly damaging	Het
Hacd3	A	G	9: 64,905,587 (GRCm39)	F184L	probably damaging	Het
Heatr1	T	C	13: 12,413,819 (GRCm39)	I132T	possibly damaging	Het
Igfbp7	A	G	5: 77,499,884 (GRCm39)		probably benign	Het
Ighv8-6	T	C	12: 115,129,477 (GRCm39)	D93G	possibly damaging	Het
Izumo3	A	G	4: 92,034,627 (GRCm39)		probably benign	Het
Jade2	T	C	11: 51,716,165 (GRCm39)	T347A	possibly damaging	Het
Kif18a	A	G	2: 109,128,787 (GRCm39)	T419A	probably benign	Het
Krt34	A	G	11: 99,929,606 (GRCm39)	S267P	possibly damaging	Het
Krt4	T	G	15: 101,828,716 (GRCm39)	K383Q	probably damaging	Het
Lgals7	G	T	7: 28,564,989 (GRCm39)	E42D	probably benign	Het
Morc2b	A	G	17: 33,356,293 (GRCm39)	V493A	possibly damaging	Het
Mtif2	T	A	11: 29,491,447 (GRCm39)	S557R	probably damaging	Het
Nup43	T	A	10: 7,545,320 (GRCm39)	F83I	probably benign	Het
Oosp2	A	G	19: 11,624,825 (GRCm39)	L155S	probably damaging	Het
Or1o1	G	T	17: 37,717,031 (GRCm39)	M197I	probably benign	Het
Plxnd1	T	A	6: 115,943,760 (GRCm39)	T1180S	possibly damaging	Het
Prpf39	T	A	12: 65,089,498 (GRCm39)	F79I	possibly damaging	Het
Prph	G	A	15: 98,956,517 (GRCm39)	S465N	possibly damaging	Het
Purg	A	T	8: 33,876,631 (GRCm39)	I90L	probably damaging	Het
Pxdn	C	A	12: 30,037,136 (GRCm39)	Q305K	probably benign	Het
R3hdm1	G	A	1: 128,144,280 (GRCm39)	S816N	probably benign	Het
Src	G	A	2: 157,311,423 (GRCm39)	G461R	probably damaging	Het
Tmem201	G	A	4: 149,804,045 (GRCm39)		probably benign	Het
Tnfrsf22	G	A	7: 143,197,111 (GRCm39)	P76L	probably damaging	Het
Triml1	T	C	8: 43,591,600 (GRCm39)		probably null	Het
Upp1	A	G	11: 9,086,100 (GRCm39)	*312W	probably null	Het
Wdfy3	G	T	5: 102,042,930 (GRCm39)	S1940R	probably damaging	Het
Xpc	T	C	6: 91,469,335 (GRCm39)	Y804C	probably damaging	Het
Xrn2	C	T	2: 146,876,767 (GRCm39)		probably benign	Het
Zfp106	A	T	2: 120,354,945 (GRCm39)	D1275E	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
IGL02086:Ccdc77	APN	6	120,316,119 (GRCm39)	missense	possibly damaging	0.89
IGL02388:Ccdc77	APN	6	120,308,858 (GRCm39)	missense	probably benign
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

2013-10-07