Mutagenetix > Incidental Mutation

Incidental Mutation 'R5195:Ccdc78'

400174

Institutional Source

Beutler Lab

Gene Symbol

Ccdc78

Ensembl Gene

ENSMUSG00000071202

Gene Name

coiled-coil domain containing 78

Synonyms

LOC381077, LOC381146

MMRRC Submission

042771-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5195 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

26005554-26009487 bp(+) (GRCm39)

Type of Mutation

splice site (4583 bp from exon)

DNA Base Change (assembly)

T to A at 26008962 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000127275 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002344] [ENSMUST00000072735] [ENSMUST00000077938] [ENSMUST00000095500] [ENSMUST00000133071] [ENSMUST00000138759] [ENSMUST00000140738] [ENSMUST00000150324] [ENSMUST00000145053] [ENSMUST00000165838]

AlphaFold

D3Z5T1

Predicted Effect

probably null
Transcript: ENSMUST00000002344

SMART Domains

Protein: ENSMUSP00000002344
Gene: ENSMUSG00000002274

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC

Predicted Effect

probably null
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

possibly damaging
Transcript: ENSMUST00000095500
AA Change: S392T

PolyPhen 2 Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000093155
Gene: ENSMUSG00000071202
AA Change: S392T

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: ENSMUST00000180868

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138100

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143248

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148986

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

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 null
Transcript: ENSMUST00000165838

SMART Domains

Protein: ENSMUSP00000127275
Gene: ENSMUSG00000002274

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC

Meta Mutation Damage Score

0.0766

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

97% (72/74)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apoo-ps	T	C	13: 107,551,053 (GRCm39)		noncoding transcript	Het
Arhgef40	T	A	14: 52,227,269 (GRCm39)	S438T	possibly damaging	Het
Barhl2	A	G	5: 106,601,305 (GRCm39)	L358P	possibly damaging	Het
Bicra	G	A	7: 15,713,878 (GRCm39)	P775S	possibly damaging	Het
Ccnb1-ps	T	A	7: 41,755,522 (GRCm39)		noncoding transcript	Het
Cct6a	A	T	5: 129,871,718 (GRCm39)		noncoding transcript	Het
Cep120	T	A	18: 53,854,770 (GRCm39)	H455L	probably damaging	Het
Cobl	C	T	11: 12,203,565 (GRCm39)	V964I	probably benign	Het
Cpt1a	A	T	19: 3,433,800 (GRCm39)	I761F	possibly damaging	Het
Crk	T	A	11: 75,570,289 (GRCm39)	Y14N	probably damaging	Het
Deup1	A	T	9: 15,486,487 (GRCm39)	Y398N	possibly damaging	Het
Efcab15	T	C	11: 103,089,794 (GRCm39)	Y381C	probably damaging	Het
Epha3	C	T	16: 63,366,510 (GRCm39)	G980D	possibly damaging	Het
Fanca	A	G	8: 124,030,684 (GRCm39)		probably benign	Het
Gbp4	T	A	5: 105,267,398 (GRCm39)	D507V	probably benign	Het
Gtf2i	A	T	5: 134,273,686 (GRCm39)	L740*	probably null	Het
Hmgn2	C	A	4: 133,694,597 (GRCm39)	A8S	probably benign	Het
Hook2	A	T	8: 85,721,405 (GRCm39)	N252I	probably damaging	Het
Igkv19-93	T	A	6: 68,713,510 (GRCm39)	T39S	probably damaging	Het
Inpp5j	A	C	11: 3,449,889 (GRCm39)		probably null	Het
Insyn2a	A	T	7: 134,486,145 (GRCm39)	F469I	probably damaging	Het
Kbtbd3	G	C	9: 4,316,905 (GRCm39)	E19Q	possibly damaging	Het
Kcns2	G	A	15: 34,839,677 (GRCm39)	A347T	possibly damaging	Het
Klhl31	A	G	9: 77,557,572 (GRCm39)	E96G	possibly damaging	Het
Kptn	A	G	7: 15,857,028 (GRCm39)	Y172C	probably damaging	Het
Krt86	T	A	15: 101,374,814 (GRCm39)	M328K	probably benign	Het
Lama1	A	G	17: 68,071,795 (GRCm39)	D894G	probably benign	Het
Lars2	T	C	9: 123,282,375 (GRCm39)	V653A	probably damaging	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Lhcgr	A	T	17: 89,050,374 (GRCm39)	V384D	probably damaging	Het
Malrd1	C	T	2: 16,155,621 (GRCm39)	T2010M	unknown	Het
Maml2	T	A	9: 13,532,410 (GRCm39)	N541K	probably damaging	Het
Med24	T	C	11: 98,601,107 (GRCm39)	K585R	possibly damaging	Het
Muc20	G	A	16: 32,614,846 (GRCm39)	S177L	unknown	Het
Mylk	T	A	16: 34,799,585 (GRCm39)	F1658L	probably damaging	Het
Obscn	C	T	11: 58,951,676 (GRCm39)	V4392I	possibly damaging	Het
Or10d5	A	G	9: 39,861,975 (GRCm39)	S31P	probably benign	Het
Or11g2	T	C	14: 50,856,243 (GRCm39)	L188P	probably damaging	Het
Pcnx2	A	T	8: 126,528,288 (GRCm39)	F1311I	possibly damaging	Het
Pcsk1	T	C	13: 75,274,974 (GRCm39)	L521P	probably damaging	Het
Pde4a	A	G	9: 21,115,629 (GRCm39)	T445A	possibly damaging	Het
Pgam5	A	T	5: 110,413,854 (GRCm39)	L103*	probably null	Het
Pkd2	G	A	5: 104,634,547 (GRCm39)	R526Q	probably benign	Het
Polr2a	T	C	11: 69,634,905 (GRCm39)	Y618C	probably damaging	Het
Pramel16	T	A	4: 143,677,450 (GRCm39)	E43V	probably damaging	Het
Pramel5	T	A	4: 143,998,311 (GRCm39)	M311L	probably benign	Het
Rbbp8	T	C	18: 11,855,208 (GRCm39)	F478L	probably benign	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Ryk	T	C	9: 102,744,812 (GRCm39)	V122A	probably benign	Het
Sik3	G	T	9: 46,120,142 (GRCm39)		probably null	Het
Slc22a30	G	A	19: 8,321,757 (GRCm39)	Q436*	probably null	Het
Slc35e4	T	A	11: 3,862,872 (GRCm39)	I106F	possibly damaging	Het
Slc41a3	T	C	6: 90,610,653 (GRCm39)	S172P	probably damaging	Het
Snrnp70	T	A	7: 45,044,134 (GRCm39)	K32N	probably damaging	Het
Spag17	T	C	3: 100,008,704 (GRCm39)	Y1945H	probably benign	Het
St7	A	G	6: 17,743,636 (GRCm39)		probably benign	Het
Stab1	C	A	14: 30,862,478 (GRCm39)		probably benign	Het
Taf13	G	A	3: 108,488,390 (GRCm39)	R91Q	probably damaging	Het
Tmem200a	T	C	10: 25,954,854 (GRCm39)		probably benign	Het
Tnc	A	T	4: 63,885,489 (GRCm39)	L1871Q	probably damaging	Het
Toe1	T	C	4: 116,661,852 (GRCm39)	H439R	probably damaging	Het
Trpm1	T	C	7: 63,887,441 (GRCm39)	V893A	possibly damaging	Het
Ubr3	G	A	2: 69,786,378 (GRCm39)	A831T	probably benign	Het
Wdr89	C	T	12: 75,680,062 (GRCm39)	R64Q	probably benign	Het
Zbed5	G	T	5: 129,931,019 (GRCm39)	V323F	probably benign	Het
Zeb2	T	C	2: 44,891,647 (GRCm39)	R287G	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
IGL01060:Ccdc78	APN	17	26,007,806 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- ATTATGCCTGGCTCGGAGAC -3'
(R):5'- GGATCTCCAATATTCACCAACTTC -3'

Sequencing Primer
(F):5'- TGCATCCTGGGCCCAAATC -3'
(R):5'- CACCAACTTCCTCAGTTTCAAG -3'

Posted On

2016-07-06