Mutagenetix > Incidental Mutation

Incidental Mutation 'RF050:Ccdc170'

605125

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 #

RF050 (G1)

Quality Score

192.468

Status

Not validated

Chromosome

Chromosomal Location

4432502-4512231 bp(+) (GRCm39)

Type of Mutation

small insertion (1 aa in frame mutation)

DNA Base Change (assembly)

ACCGCC to ACCGCCGCC at 4511008 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000115997 (fasta)

Gene Model

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

AlphaFold

D3YXL0

Predicted Effect

probably benign
Transcript: ENSMUST00000019901

SMART Domains

Protein: ENSMUSP00000019901
Gene: ENSMUSG00000019767

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

SMART Domains

Protein: ENSMUSP00000115997
Gene: ENSMUSG00000019767

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

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.3%
20x: 98.6%

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: 13 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amot	GCAACAGCAAC	GC	X: 144,233,999 (GRCm39)		probably benign	Het
Ankhd1	GGCGGC	GGCGGCTGCGGC	18: 36,693,980 (GRCm39)		probably benign	Het
Calhm1	GCTGTGGC	GCTGTGGCTGTGTCTGTGGC	19: 47,129,709 (GRCm39)		probably benign	Het
Cntnap1	CAGCC	CAGCCCAAGCC	11: 101,080,418 (GRCm39)		probably benign	Het
Gabre	CAGGCT	CAGGCTAAGGCT	X: 71,314,347 (GRCm39)		probably null	Het
Garin5a	CTGGGTCTGAGGGAGGA	CTGGGTCTGAGGGAGGAAGGCTGGATCCTGGATACATGGGTCTGAGGGAGGA	7: 44,149,945 (GRCm39)		probably null	Het
Gm38119	C	T	3: 92,645,196 (GRCm39)	G133S	not run	Het
Gm6665	T	TC	18: 31,953,430 (GRCm39)		probably null	Het
Lca5l	TGGCCCTGGCCCCGGCCC	TGGCCC	16: 95,960,501 (GRCm39)		probably benign	Het
Med12l	AGC	AGCCGC	3: 59,183,394 (GRCm39)		probably benign	Het
Pou3f1	CGGCGG	CGGCGGAGGCGG	4: 124,551,597 (GRCm39)		probably benign	Het
Rtbdn	CGGCAG	CGGCAGAGGCAG	8: 85,682,799 (GRCm39)		probably benign	Het
Tcof1	CTTGGC	CTTGGCTGCTGAGATGGGCACTTTCCCAGAGATCCCGTTGGC	18: 60,966,651 (GRCm39)		probably benign	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
R2383:Ccdc170	UTSW	10	4,484,208 (GRCm39)	missense	probably benign	0.00
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
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'- TGCCTACCTCATGCAAATCTAAGG -3'
(R):5'- TGTATGAACTGCACAACTGGAG -3'

Sequencing Primer
(F):5'- GTTGCACTTGACCCAGCAATG -3'
(R):5'- TGCACAACTGGAGAATCGTAC -3'

Posted On

2019-12-04