Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01060:Ccdc78'

52990

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ccdc78

Ensembl Gene

ENSMUSG00000071202

Gene Name

coiled-coil domain containing 78

Synonyms

LOC381077, LOC381146

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01060

Quality Score

Status

Chromosome

Chromosomal Location

26005554-26009487 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 26007806 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 281 (D281G)

Ref Sequence

ENSEMBL: ENSMUSP00000093155 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072735] [ENSMUST00000077938] [ENSMUST00000095500] [ENSMUST00000133071] [ENSMUST00000150324] [ENSMUST00000145053] [ENSMUST00000138759] [ENSMUST00000140738]

AlphaFold

D3Z5T1

Predicted Effect

probably benign
Transcript: ENSMUST00000072735

SMART Domains

Protein: ENSMUSP00000072518
Gene: ENSMUSG00000057411

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
SCOP:d1f3la_	65	141	2e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000077938

SMART Domains

Protein: ENSMUSP00000077091
Gene: ENSMUSG00000061046

Domain	Start	End	E-Value	Type
Lactamase_B	11	173	7.63e-25	SMART
Pfam:HAGH_C	174	270	3.2e-24	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000095500
AA Change: D281G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000093155
Gene: ENSMUSG00000071202
AA Change: D281G

Domain	Start	End	E-Value	Type
Pfam:DUF4472	63	190	5.5e-23	PFAM
coiled coil region	364	408	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129917

Predicted Effect

probably benign
Transcript: ENSMUST00000133071

SMART Domains

Protein: ENSMUSP00000120885
Gene: ENSMUSG00000061046

Domain	Start	End	E-Value	Type
Lactamase_B	1	125	1.34e-11	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137587

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138100

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143248

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148986

Predicted Effect

probably benign
Transcript: ENSMUST00000150324

SMART Domains

Protein: ENSMUSP00000119647
Gene: ENSMUSG00000061046

Domain	Start	End	E-Value	Type
Lactamase_B	11	173	7.63e-25	SMART
Pfam:HAGH_C	174	270	3.2e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000145053

SMART Domains

Protein: ENSMUSP00000114961
Gene: ENSMUSG00000061046

Domain	Start	End	E-Value	Type
Pfam:Lactamase_B	7	113	3.3e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000138759

SMART Domains

Protein: ENSMUSP00000115538
Gene: ENSMUSG00000061046

Domain	Start	End	E-Value	Type
Lactamase_B	1	125	1.34e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000140738

SMART Domains

Protein: ENSMUSP00000116841
Gene: ENSMUSG00000061046

Domain	Start	End	E-Value	Type
Lactamase_B	11	173	7.63e-25	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene contains two coiled-coil domains. The function of this gene is currently unknown. [provided by RefSeq, Sep 2012]

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110038F14Rik	G	A	15: 76,834,475 (GRCm39)	V124I	probably damaging	Het
Anks4b	A	G	7: 119,773,148 (GRCm39)	T3A	possibly damaging	Het
Arhgef26	T	A	3: 62,247,542 (GRCm39)	S209T	probably benign	Het
Ccnb3	A	T	X: 6,846,513 (GRCm39)	N1362K	probably benign	Het
Dnah2	T	C	11: 69,368,918 (GRCm39)	N1662S	possibly damaging	Het
Elp1	C	T	4: 56,784,537 (GRCm39)		probably null	Het
Ern2	T	A	7: 121,769,315 (GRCm39)	R904W	probably damaging	Het
Fam120c	C	T	X: 150,252,583 (GRCm39)	P1045S	probably benign	Het
Gm12887	C	T	4: 121,473,610 (GRCm39)		probably benign	Het
Gpld1	G	A	13: 25,166,549 (GRCm39)	G627S	probably damaging	Het
Krt77	T	A	15: 101,769,315 (GRCm39)		probably benign	Het
Ltf	A	T	9: 110,851,950 (GRCm39)		probably null	Het
Map3k6	G	T	4: 132,974,613 (GRCm39)		probably null	Het
Nsd1	G	A	13: 55,411,242 (GRCm39)	G1431D	probably damaging	Het
Plekhm2	C	T	4: 141,369,956 (GRCm39)		probably null	Het
Popdc2	T	A	16: 38,194,327 (GRCm39)	N249K	probably damaging	Het
Ppm1h	A	G	10: 122,743,476 (GRCm39)	D400G	possibly damaging	Het
Rps6ka1	A	T	4: 133,588,181 (GRCm39)	S320T	probably damaging	Het
Rsph6a	C	T	7: 18,788,793 (GRCm39)	R42*	probably null	Het
Sap130	T	C	18: 31,848,496 (GRCm39)	L967P	probably damaging	Het
Smyd2	T	C	1: 189,629,667 (GRCm39)	E121G	possibly damaging	Het
Sspo	G	A	6: 48,426,413 (GRCm39)	W144*	probably null	Het
Taar6	A	G	10: 23,860,970 (GRCm39)	V192A	probably benign	Het
Tbc1d24	A	T	17: 24,404,802 (GRCm39)	V114E	probably damaging	Het
Trim16	T	C	11: 62,711,530 (GRCm39)	I67T	probably benign	Het
Ttll7	A	G	3: 146,615,337 (GRCm39)	D267G	possibly damaging	Het
Ttn	T	C	2: 76,720,073 (GRCm39)		probably benign	Het
Vmn2r56	T	A	7: 12,447,016 (GRCm39)	I379F	probably damaging	Het
Zfp14	T	C	7: 29,737,510 (GRCm39)	T492A	probably damaging	Het

Other mutations in Ccdc78

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01013:Ccdc78	APN	17	26,008,028 (GRCm39)	missense	possibly damaging	0.73
IGL01403:Ccdc78	APN	17	26,007,218 (GRCm39)	critical splice donor site	probably null
R0201:Ccdc78	UTSW	17	26,008,210 (GRCm39)	unclassified	probably benign
R1521:Ccdc78	UTSW	17	26,007,755 (GRCm39)	missense	probably damaging	1.00
R1933:Ccdc78	UTSW	17	26,006,044 (GRCm39)	missense	probably damaging	1.00
R4860:Ccdc78	UTSW	17	26,007,674 (GRCm39)	missense	probably benign
R4860:Ccdc78	UTSW	17	26,007,674 (GRCm39)	missense	probably benign
R5107:Ccdc78	UTSW	17	26,006,454 (GRCm39)	missense	possibly damaging	0.95
R5195:Ccdc78	UTSW	17	26,008,962 (GRCm39)	splice site	probably null
R5587:Ccdc78	UTSW	17	26,005,651 (GRCm39)	missense	probably benign	0.27
R6145:Ccdc78	UTSW	17	26,008,039 (GRCm39)	missense	probably benign	0.09
R6392:Ccdc78	UTSW	17	26,007,148 (GRCm39)	missense	probably damaging	0.97
R7624:Ccdc78	UTSW	17	26,006,126 (GRCm39)	missense	probably damaging	1.00
R7654:Ccdc78	UTSW	17	26,009,085 (GRCm39)	missense	probably damaging	1.00
R7956:Ccdc78	UTSW	17	26,006,091 (GRCm39)	missense	possibly damaging	0.92
R8787:Ccdc78	UTSW	17	26,006,807 (GRCm39)	missense	probably benign	0.19
R9772:Ccdc78	UTSW	17	26,005,665 (GRCm39)	nonsense	probably null
X0028:Ccdc78	UTSW	17	26,008,829 (GRCm39)	splice site	probably null

Posted On

2013-06-21