Mutagenetix > Incidental Mutation

Incidental Mutation 'R2383:Ccdc170'

247608

Institutional Source

Beutler Lab

Gene Symbol

Ccdc170

Ensembl Gene

ENSMUSG00000019767

Gene Name

coiled-coil domain containing 170

Synonyms

Gm221, LOC237250

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.310) question?

Stock #

R2383 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4432502-4512231 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 4484208 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 345 (E345K)

Ref Sequence

ENSEMBL: ENSMUSP00000115997 (fasta)

Gene Model

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

AlphaFold

D3YXL0

Predicted Effect

probably benign
Transcript: ENSMUST00000019901
AA Change: E339K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000019901
Gene: ENSMUSG00000019767
AA Change: E339K

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

probably benign
Transcript: ENSMUST00000138112
AA Change: E345K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000115997
Gene: ENSMUSG00000019767
AA Change: E345K

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

noncoding transcript
Transcript: ENSMUST00000157064

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 93.6%

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: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam33	T	C	2: 130,893,282 (GRCm39)	T748A	probably benign	Het
Afg3l2	A	G	18: 67,556,026 (GRCm39)	V435A	possibly damaging	Het
Chd2	T	C	7: 73,153,168 (GRCm39)	I227V	possibly damaging	Het
Cndp2	C	A	18: 84,693,215 (GRCm39)	D182Y	possibly damaging	Het
Col14a1	A	T	15: 55,310,913 (GRCm39)		probably benign	Het
Cyp2e1	C	T	7: 140,349,981 (GRCm39)	S222L	probably benign	Het
Evx2	T	C	2: 74,488,393 (GRCm39)		probably null	Het
Kics2	A	G	10: 121,586,554 (GRCm39)	T290A	possibly damaging	Het
L1td1	A	G	4: 98,625,959 (GRCm39)	E718G	possibly damaging	Het
Lgr4	T	C	2: 109,830,960 (GRCm39)	S296P	probably damaging	Het
Lrrc7	T	C	3: 157,869,593 (GRCm39)	M709V	probably benign	Het
Mtbp	G	A	15: 55,429,590 (GRCm39)	G162D	probably damaging	Het
Nap1l1	T	G	10: 111,329,272 (GRCm39)	D295E	probably damaging	Het
Or2f1b	A	T	6: 42,739,393 (GRCm39)	M136L	probably benign	Het
Plrg1	C	T	3: 82,973,255 (GRCm39)	P178S	probably damaging	Het
Serpina1b	T	A	12: 103,694,539 (GRCm39)	I402F	probably benign	Het
Sla	T	A	15: 66,654,525 (GRCm39)	I254F	probably damaging	Het
Slc25a29	A	G	12: 108,792,934 (GRCm39)	S215P	probably damaging	Het
Thoc2l	T	C	5: 104,666,854 (GRCm39)	S459P	probably benign	Het
Tiam1	A	G	16: 89,595,572 (GRCm39)	V1303A	probably benign	Het
Trim45	A	T	3: 100,832,543 (GRCm39)	I259F	probably damaging	Het
Ttn	T	C	2: 76,536,856 (GRCm39)	S34990G	probably benign	Het
Zbtb48	A	G	4: 152,111,407 (GRCm39)	V36A	probably damaging	Het

Other mutations in Ccdc170

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00502:Ccdc170	APN	10	4,496,836 (GRCm39)	missense	probably damaging	1.00
IGL01018:Ccdc170	APN	10	4,464,114 (GRCm39)	missense	probably benign
IGL01018:Ccdc170	APN	10	4,462,788 (GRCm39)	missense	probably benign
IGL01018:Ccdc170	APN	10	4,464,155 (GRCm39)	missense	probably benign	0.00
IGL01114:Ccdc170	APN	10	4,508,550 (GRCm39)	missense	probably benign	0.01
IGL01377:Ccdc170	APN	10	4,510,966 (GRCm39)	missense	probably damaging	1.00
IGL01726:Ccdc170	APN	10	4,499,713 (GRCm39)	missense	probably benign	0.04
IGL02110:Ccdc170	APN	10	4,491,885 (GRCm39)	splice site	probably null
FR4304:Ccdc170	UTSW	10	4,511,021 (GRCm39)	small insertion	probably benign
FR4548:Ccdc170	UTSW	10	4,511,026 (GRCm39)	small insertion	probably benign
FR4737:Ccdc170	UTSW	10	4,511,029 (GRCm39)	small insertion	probably benign
FR4737:Ccdc170	UTSW	10	4,511,023 (GRCm39)	small insertion	probably benign
FR4976:Ccdc170	UTSW	10	4,511,029 (GRCm39)	small insertion	probably benign
FR4976:Ccdc170	UTSW	10	4,511,008 (GRCm39)	small insertion	probably benign
FR4976:Ccdc170	UTSW	10	4,511,023 (GRCm39)	small insertion	probably benign
R0137:Ccdc170	UTSW	10	4,496,950 (GRCm39)	splice site	probably benign
R0280:Ccdc170	UTSW	10	4,508,663 (GRCm39)	missense	possibly damaging	0.62
R0480:Ccdc170	UTSW	10	4,468,939 (GRCm39)	missense	probably benign	0.00
R1786:Ccdc170	UTSW	10	4,469,043 (GRCm39)	missense	probably benign	0.02
R3031:Ccdc170	UTSW	10	4,468,931 (GRCm39)	missense	probably damaging	0.99
R3797:Ccdc170	UTSW	10	4,510,920 (GRCm39)	missense	possibly damaging	0.60
R4494:Ccdc170	UTSW	10	4,464,128 (GRCm39)	missense	probably damaging	1.00
R4916:Ccdc170	UTSW	10	4,468,971 (GRCm39)	missense	probably damaging	0.96
R5152:Ccdc170	UTSW	10	4,511,107 (GRCm39)	missense	probably damaging	1.00
R5170:Ccdc170	UTSW	10	4,464,200 (GRCm39)	missense	probably damaging	0.99
R5354:Ccdc170	UTSW	10	4,484,188 (GRCm39)	missense	probably benign	0.16
R5911:Ccdc170	UTSW	10	4,508,551 (GRCm39)	nonsense	probably null
R5983:Ccdc170	UTSW	10	4,470,851 (GRCm39)	nonsense	probably null
R6374:Ccdc170	UTSW	10	4,499,746 (GRCm39)	nonsense	probably null
R6645:Ccdc170	UTSW	10	4,510,974 (GRCm39)	missense	possibly damaging	0.95
R6818:Ccdc170	UTSW	10	4,491,782 (GRCm39)	missense	probably damaging	1.00
R6888:Ccdc170	UTSW	10	4,496,854 (GRCm39)	missense	possibly damaging	0.91
R7032:Ccdc170	UTSW	10	4,432,597 (GRCm39)	missense	unknown
R7206:Ccdc170	UTSW	10	4,464,120 (GRCm39)	missense	possibly damaging	0.66
R7393:Ccdc170	UTSW	10	4,464,314 (GRCm39)	critical splice donor site	probably null
R7438:Ccdc170	UTSW	10	4,508,512 (GRCm39)	nonsense	probably null
R7471:Ccdc170	UTSW	10	4,470,803 (GRCm39)	missense	probably benign	0.00
R7514:Ccdc170	UTSW	10	4,496,839 (GRCm39)	missense	probably benign	0.37
R7818:Ccdc170	UTSW	10	4,499,603 (GRCm39)	missense	probably benign	0.05
R8942:Ccdc170	UTSW	10	4,484,044 (GRCm39)	missense	probably benign	0.07
R9069:Ccdc170	UTSW	10	4,511,016 (GRCm39)	missense	possibly damaging	0.46
R9355:Ccdc170	UTSW	10	4,508,695 (GRCm39)	missense	probably benign	0.17
R9790:Ccdc170	UTSW	10	4,483,957 (GRCm39)	critical splice acceptor site	probably null
R9791:Ccdc170	UTSW	10	4,483,957 (GRCm39)	critical splice acceptor site	probably null
RF006:Ccdc170	UTSW	10	4,511,030 (GRCm39)	small insertion	probably benign
RF009:Ccdc170	UTSW	10	4,511,030 (GRCm39)	small insertion	probably benign
RF011:Ccdc170	UTSW	10	4,511,018 (GRCm39)	small insertion	probably benign
RF017:Ccdc170	UTSW	10	4,511,024 (GRCm39)	small insertion	probably benign
RF023:Ccdc170	UTSW	10	4,511,018 (GRCm39)	small insertion	probably benign
RF024:Ccdc170	UTSW	10	4,511,024 (GRCm39)	small insertion	probably benign
RF025:Ccdc170	UTSW	10	4,511,026 (GRCm39)	small insertion	probably benign
RF027:Ccdc170	UTSW	10	4,511,026 (GRCm39)	small insertion	probably benign
RF029:Ccdc170	UTSW	10	4,511,026 (GRCm39)	small insertion	probably benign
RF050:Ccdc170	UTSW	10	4,511,008 (GRCm39)	small insertion	probably benign
RF064:Ccdc170	UTSW	10	4,511,025 (GRCm39)	small insertion	probably benign
Z1177:Ccdc170	UTSW	10	4,459,884 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AAGAACGGCTGCTTGCATC -3'
(R):5'- TGGCCAACTCCAAGAATGACTC -3'

Sequencing Primer
(F):5'- TGCTTGCATCTCAGCGAG -3'
(R):5'- ACCTTCCTATGTACAGCTGGAAGTG -3'

Posted On

2014-11-11