Mutagenetix > Incidental Mutations

Incidental Mutation 'R5170:Ccdc170'

397511

Institutional Source

Beutler Lab

Gene Symbol

Ccdc170

Ensembl Gene

ENSMUSG00000019767

Gene Name

coiled-coil domain containing 170

Synonyms

Gm221, LOC237250

MMRRC Submission

042750-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.279) question?

Stock #

R5170 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4482502-4562231 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 4514200 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 60 (E60K)

Ref Sequence

ENSEMBL: ENSMUSP00000122673 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019901] [ENSMUST00000138112] [ENSMUST00000145465]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000019901
AA Change: E108K

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000019901
Gene: ENSMUSG00000019767
AA Change: E108K

Domain	Start	End	E-Value	Type
coiled coil region	40	160	N/A	INTRINSIC
coiled coil region	264	302	N/A	INTRINSIC
low complexity region	345	357	N/A	INTRINSIC
coiled coil region	379	415	N/A	INTRINSIC
coiled coil region	475	649	N/A	INTRINSIC
low complexity region	678	690	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000138112
AA Change: E114K

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000115997
Gene: ENSMUSG00000019767
AA Change: E114K

Domain	Start	End	E-Value	Type
low complexity region	2	23	N/A	INTRINSIC
internal_repeat_1	80	93	6.25e-5	PROSPERO
internal_repeat_1	305	318	6.25e-5	PROSPERO
low complexity region	351	363	N/A	INTRINSIC
coiled coil region	385	421	N/A	INTRINSIC
coiled coil region	481	655	N/A	INTRINSIC
low complexity region	684	696	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000145465
AA Change: E60K

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000122673
Gene: ENSMUSG00000019767
AA Change: E60K

Domain	Start	End	E-Value	Type
coiled coil region	6	96	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The function of this gene and its encoded protein is not known. Several genome-wide association studies have implicated the region around this gene to be involved in breast cancer and bone mineral density, but no link to this specific gene has been found. [provided by RefSeq, May 2010]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox3	A	G	5: 35,588,625	I51V	probably benign	Het
Agbl2	A	G	2: 90,803,197	K559R	probably benign	Het
Arhgap30	A	G	1: 171,408,050	D664G	probably benign	Het
BC034090	A	G	1: 155,213,650	V798A	probably damaging	Het
Bdp1	A	T	13: 100,030,794	C2237*	probably null	Het
C3	C	T	17: 57,223,938	V388M	probably damaging	Het
Cdh8	G	A	8: 99,279,550	T135M	probably damaging	Het
Cep131	G	T	11: 120,070,609	A572E	probably damaging	Het
Clec16a	A	G	16: 10,741,791	Y976C	probably benign	Het
Dmpk	C	G	7: 19,088,019	L301V	probably benign	Het
Eno3	A	G	11: 70,662,214	I393V	probably benign	Het
Fbxo47	A	G	11: 97,857,694	V305A	probably benign	Het
Fry	G	A	5: 150,429,854	V1779M	probably benign	Het
Gm15293	A	T	8: 21,201,680	D26V	probably damaging	Het
Gtse1	T	C	15: 85,864,264		probably null	Het
Gucy2e	A	T	11: 69,235,570	L328Q	probably damaging	Het
Ifi207	T	C	1: 173,730,498	T225A	unknown	Het
Igkv4-80	A	C	6: 69,016,665	S81A	probably benign	Het
Lamc3	A	T	2: 31,887,344	M1L	probably benign	Het
Lman1l	G	A	9: 57,615,619	R153*	probably null	Het
Myo16	A	G	8: 10,569,745	D1432G	probably benign	Het
Nwd2	A	T	5: 63,806,037	N988I	probably damaging	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Parp14	T	C	16: 35,857,279	E773G	probably benign	Het
Psen1	T	A	12: 83,714,862	M146K	probably damaging	Het
Ptx4	G	A	17: 25,123,178	R209Q	probably benign	Het
Slc13a2	T	C	11: 78,400,808	T340A	probably damaging	Het
St8sia1	T	C	6: 142,963,708	K21E	probably damaging	Het
Stxbp1	T	C	2: 32,794,674	D581G	probably benign	Het
Sumo2	G	A	11: 115,534,660		probably benign	Het
Supt5	G	A	7: 28,316,083	P910S	probably benign	Het
Tbc1d30	T	C	10: 121,306,838	Q158R	possibly damaging	Het
Tenm2	T	A	11: 36,024,806	H1968L	probably damaging	Het
Trmt1	T	C	8: 84,695,232	Y220H	probably damaging	Het
Trp73	C	T	4: 154,104,838	E60K	possibly damaging	Het
Ttn	A	G	2: 76,787,069	Y8026H	probably damaging	Het
Zar1l	A	G	5: 150,517,585		probably null	Het
Zfp740	T	C	15: 102,209,205	Y117H	probably damaging	Het
Zfp941	G	A	7: 140,812,957		probably benign	Het
Zp1	C	A	19: 10,920,554	V8F	possibly damaging	Het

Other mutations in Ccdc170

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00502:Ccdc170	APN	10	4546836	missense	probably damaging	1.00
IGL01018:Ccdc170	APN	10	4512788	missense	probably benign
IGL01018:Ccdc170	APN	10	4514155	missense	probably benign	0.00
IGL01018:Ccdc170	APN	10	4514114	missense	probably benign
IGL01114:Ccdc170	APN	10	4558550	missense	probably benign	0.01
IGL01377:Ccdc170	APN	10	4560966	missense	probably damaging	1.00
IGL01726:Ccdc170	APN	10	4549713	missense	probably benign	0.04
IGL02110:Ccdc170	APN	10	4541885	splice site	probably null
FR4304:Ccdc170	UTSW	10	4561021	small insertion	probably benign
FR4548:Ccdc170	UTSW	10	4561026	small insertion	probably benign
FR4737:Ccdc170	UTSW	10	4561023	small insertion	probably benign
FR4737:Ccdc170	UTSW	10	4561029	small insertion	probably benign
FR4976:Ccdc170	UTSW	10	4561008	small insertion	probably benign
FR4976:Ccdc170	UTSW	10	4561023	small insertion	probably benign
FR4976:Ccdc170	UTSW	10	4561029	small insertion	probably benign
R0137:Ccdc170	UTSW	10	4546950	splice site	probably benign
R0280:Ccdc170	UTSW	10	4558663	missense	possibly damaging	0.62
R0480:Ccdc170	UTSW	10	4518939	missense	probably benign	0.00
R1786:Ccdc170	UTSW	10	4519043	missense	probably benign	0.02
R2383:Ccdc170	UTSW	10	4534208	missense	probably benign	0.00
R3031:Ccdc170	UTSW	10	4518931	missense	probably damaging	0.99
R3797:Ccdc170	UTSW	10	4560920	missense	possibly damaging	0.60
R4494:Ccdc170	UTSW	10	4514128	missense	probably damaging	1.00
R4916:Ccdc170	UTSW	10	4518971	missense	probably damaging	0.96
R5152:Ccdc170	UTSW	10	4561107	missense	probably damaging	1.00
R5354:Ccdc170	UTSW	10	4534188	missense	probably benign	0.16
R5911:Ccdc170	UTSW	10	4558551	nonsense	probably null
R5983:Ccdc170	UTSW	10	4520851	nonsense	probably null
R6374:Ccdc170	UTSW	10	4549746	nonsense	probably null
R6645:Ccdc170	UTSW	10	4560974	missense	possibly damaging	0.95
R6818:Ccdc170	UTSW	10	4541782	missense	probably damaging	1.00
R6888:Ccdc170	UTSW	10	4546854	missense	possibly damaging	0.91
R7032:Ccdc170	UTSW	10	4482597	missense	unknown
R7206:Ccdc170	UTSW	10	4514120	missense	possibly damaging	0.66
R7393:Ccdc170	UTSW	10	4514314	critical splice donor site	probably null
R7438:Ccdc170	UTSW	10	4558512	nonsense	probably null
R7471:Ccdc170	UTSW	10	4520803	missense	probably benign	0.00
R7514:Ccdc170	UTSW	10	4546839	missense	probably benign	0.37
R7818:Ccdc170	UTSW	10	4549603	missense	probably benign	0.05
RF006:Ccdc170	UTSW	10	4561030	small insertion	probably benign
RF009:Ccdc170	UTSW	10	4561030	small insertion	probably benign
RF011:Ccdc170	UTSW	10	4561018	small insertion	probably benign
RF017:Ccdc170	UTSW	10	4561024	small insertion	probably benign
RF023:Ccdc170	UTSW	10	4561018	small insertion	probably benign
RF024:Ccdc170	UTSW	10	4561024	small insertion	probably benign
RF025:Ccdc170	UTSW	10	4561026	small insertion	probably benign
RF027:Ccdc170	UTSW	10	4561026	small insertion	probably benign
RF029:Ccdc170	UTSW	10	4561026	small insertion	probably benign
RF050:Ccdc170	UTSW	10	4561008	small insertion	probably benign
RF064:Ccdc170	UTSW	10	4561025	small insertion	probably benign
Z1177:Ccdc170	UTSW	10	4509884	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GTAGGCCCTTCCAACAGCATAC -3'
(R):5'- ATCACTCAAGATGTAGGCTGAG -3'

Sequencing Primer
(F):5'- GCATACACATTGTTAAATCCCTTTG -3'
(R):5'- CACTCAAGATGTAGGCTGAGCTCTG -3'

Posted On

2016-07-06