Mutagenetix > Incidental Mutations

Incidental Mutation 'R4986:Ccdc34'

385866

Institutional Source

Beutler Lab

Gene Symbol

Ccdc34

Ensembl Gene

ENSMUSG00000027160

Gene Name

coiled-coil domain containing 34

Synonyms

MMRRC Submission

042580-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R4986 (G1)

Quality Score

180

Status

Validated

Chromosome

Chromosomal Location

110017817-110173360 bp(+) (GRCm38)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

T to C at 110017869 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 1 (M1T)

Ref Sequence

ENSEMBL: ENSMUSP00000028580 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028580] [ENSMUST00000046548] [ENSMUST00000111037]

Predicted Effect

probably null
Transcript: ENSMUST00000028580
AA Change: M1T

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000028580
Gene: ENSMUSG00000027160
AA Change: M1T

Domain	Start	End	E-Value	Type
low complexity region	29	40	N/A	INTRINSIC
Pfam:DUF4207	62	315	5.6e-56	PFAM
low complexity region	338	349	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000046548

SMART Domains

Protein: ENSMUSP00000047325
Gene: ENSMUSG00000050199

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
LRRNT	28	61	6.68e-6	SMART
LRR	55	79	1.49e1	SMART
LRR	80	103	1.99e0	SMART
LRR_TYP	104	127	2.75e-3	SMART
LRR_TYP	128	151	2.79e-4	SMART
LRR	152	175	2.54e1	SMART
LRR	176	199	4.65e-1	SMART
LRR_TYP	200	223	1.04e-3	SMART
LRR	224	246	6.4e0	SMART
LRR_TYP	247	270	5.99e-4	SMART
LRR	272	294	9.77e1	SMART
LRR	318	341	3e1	SMART
LRR	343	363	4.71e1	SMART
LRR	364	387	1.49e1	SMART
LRR_TYP	388	411	1.15e-5	SMART
LRR	412	435	3.98e1	SMART
low complexity region	500	516	N/A	INTRINSIC
Pfam:7tm_1	555	801	2.7e-10	PFAM
low complexity region	824	837	N/A	INTRINSIC
low complexity region	910	924	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111037

SMART Domains

Protein: ENSMUSP00000106666
Gene: ENSMUSG00000050199

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
LRRNT	28	61	6.68e-6	SMART
LRR	55	79	9.77e1	SMART
LRR_TYP	80	103	2.75e-3	SMART
LRR_TYP	104	127	2.79e-4	SMART
LRR	128	151	2.54e1	SMART
LRR	152	175	4.65e-1	SMART
LRR_TYP	176	199	1.04e-3	SMART
LRR	200	222	6.4e0	SMART
LRR_TYP	223	246	5.99e-4	SMART
LRR	248	270	9.77e1	SMART
LRR	294	317	3e1	SMART
LRR	319	339	4.71e1	SMART
LRR	340	363	1.49e1	SMART
LRR_TYP	364	387	1.15e-5	SMART
LRR	388	411	3.98e1	SMART
low complexity region	476	492	N/A	INTRINSIC
Pfam:7tm_1	531	777	9.3e-17	PFAM
low complexity region	800	813	N/A	INTRINSIC
low complexity region	886	900	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126990

Predicted Effect

probably benign
Transcript: ENSMUST00000127630

SMART Domains

Protein: ENSMUSP00000130554
Gene: ENSMUSG00000027160

Domain	Start	End	E-Value	Type
Pfam:DUF4207	25	174	6.3e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000150183

SMART Domains

Protein: ENSMUSP00000127363
Gene: ENSMUSG00000027160

Domain	Start	End	E-Value	Type
Pfam:DUF4207	31	139	3.7e-13	PFAM

Meta Mutation Damage Score

0.9659

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.5%
20x: 89.2%

Validation Efficiency

95% (41/43)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3632451O06Rik	A	T	14: 49,751,654	D619E	probably damaging	Het
Abcc9	A	T	6: 142,627,591	C1005S	probably benign	Het
Ceacam5	T	A	7: 17,757,833	N709K	possibly damaging	Het
Ces2f	G	A	8: 104,952,025	S298N	probably benign	Het
Defa30	T	A	8: 21,135,416	Y65*	probably null	Het
Dock3	A	C	9: 106,931,983	C1314G	probably damaging	Het
Emc2	A	G	15: 43,511,784	M226V	probably benign	Het
Fat3	T	C	9: 15,998,340	Y2122C	probably damaging	Het
Gad1	A	G	2: 70,600,693	D560G	probably benign	Het
Gm9944	T	C	4: 144,453,190		probably benign	Het
Gpr137c	A	T	14: 45,246,286		probably null	Het
Igf2bp2	C	T	16: 22,070,306		probably null	Het
Igsf10	T	C	3: 59,328,606	T1385A	probably benign	Het
Itpr2	T	A	6: 146,240,342	N1734I	probably damaging	Het
Kbtbd6	A	G	14: 79,452,609	H248R	probably damaging	Het
Macf1	C	T	4: 123,391,121	R5650Q	probably damaging	Het
Mdh1	A	G	11: 21,558,545	F266L	possibly damaging	Het
Mecom	G	T	3: 29,980,699	P466Q	probably damaging	Het
Muc20	A	G	16: 32,777,635		probably benign	Het
Olfr1151	T	A	2: 87,857,514	L113Q	probably damaging	Het
Olfr1265	A	T	2: 90,037,428	N170Y	probably damaging	Het
Osmr	A	G	15: 6,816,580		probably null	Het
Rrs1	G	A	1: 9,545,767	E82K	probably damaging	Het
Sacs	T	A	14: 61,213,043	Y4179*	probably null	Het
Sept11	T	C	5: 93,161,241	V203A	probably damaging	Het
Skint9	T	A	4: 112,391,713	T173S	probably benign	Het
Slain1	A	T	14: 103,688,105	R296S	probably damaging	Het
Slc36a3	T	A	11: 55,146,766	*93C	probably null	Het
Sp110	G	A	1: 85,591,760	P116S	probably benign	Het
Srl	T	C	16: 4,496,782	Y332C	probably benign	Het
Ubtf	G	A	11: 102,314,174	H95Y	probably benign	Het
Ugt1a1	CAGAGAGAGAGAGA	CAGAGAGAGAGA	1: 88,211,984		probably benign	Het
Wdfy3	C	T	5: 101,943,119	D532N	probably benign	Het
Ybx1	C	T	4: 119,282,430	V123I	probably damaging	Het
Zfp944	A	T	17: 22,339,230	H345Q	probably damaging	Het
Zfp993	T	A	4: 146,657,557	F113I	probably benign	Het

Other mutations in Ccdc34

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
marrowfuel	UTSW	2	110044227	nonsense	probably null
peek	UTSW	2	110018007	missense	probably benign	0.04
LCD18:Ccdc34	UTSW	2	110016318	unclassified	probably benign
R1808:Ccdc34	UTSW	2	110044256	missense	probably benign	0.15
R2011:Ccdc34	UTSW	2	110044304	missense	possibly damaging	0.93
R2025:Ccdc34	UTSW	2	110032386	missense	possibly damaging	0.95
R3852:Ccdc34	UTSW	2	110032428	missense	possibly damaging	0.95
R4968:Ccdc34	UTSW	2	110040733	critical splice donor site	probably null
R6075:Ccdc34	UTSW	2	110044235	missense	possibly damaging	0.77
R6103:Ccdc34	UTSW	2	110018007	missense	probably benign	0.04
R6294:Ccdc34	UTSW	2	110018151	missense	probably benign	0.08
R7856:Ccdc34	UTSW	2	110044227	nonsense	probably null
X0025:Ccdc34	UTSW	2	110044312	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TACCTGGACTGAGGAAGCCAAG -3'
(R):5'- CAAACGGAAAGCTCTGGTGG -3'

Sequencing Primer
(F):5'- TGAGGAAGCCAAGCTCTTC -3'
(R):5'- AGTTGCTGCAGCTCAGAGAC -3'

Posted On

2016-05-10