Mutagenetix > Incidental Mutation

Incidental Mutation 'R3031:Ccdc170'

264730

Institutional Source

Beutler Lab

Gene Symbol

Ccdc170

Ensembl Gene

ENSMUSG00000019767

Gene Name

coiled-coil domain containing 170

Synonyms

Gm221, LOC237250

MMRRC Submission

040547-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.381) question?

Stock #

R3031 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4432502-4512231 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4468931 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 160 (S160P)

Ref Sequence

ENSEMBL: ENSMUSP00000115997 (fasta)

Gene Model

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

AlphaFold

D3YXL0

Predicted Effect

probably damaging
Transcript: ENSMUST00000019901
AA Change: S154P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000019901
Gene: ENSMUSG00000019767
AA Change: S154P

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 damaging
Transcript: ENSMUST00000138112
AA Change: S160P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000115997
Gene: ENSMUSG00000019767
AA Change: S160P

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 benign
Transcript: ENSMUST00000145465

SMART Domains

Protein: ENSMUSP00000122673
Gene: ENSMUSG00000019767

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: 95.2%

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	C	A	16: 20,193,863 (GRCm39)	V753L	probably damaging	Het
Ap3b1	T	C	13: 94,702,151 (GRCm39)	L1068P	unknown	Het
Cacna1h	C	A	17: 25,652,108 (GRCm39)	R12L	probably damaging	Het
Cbln4	A	G	2: 171,884,100 (GRCm39)	V40A	probably damaging	Het
Cdc37	T	C	9: 21,054,487 (GRCm39)	E46G	possibly damaging	Het
Cltc	T	C	11: 86,621,158 (GRCm39)	H287R	probably damaging	Het
Dsg1a	A	T	18: 20,473,549 (GRCm39)	D874V	probably damaging	Het
Gjd4	G	T	18: 9,280,811 (GRCm39)	S89*	probably null	Het
Gkn3	C	T	6: 87,360,507 (GRCm39)	A163T	probably damaging	Het
Hydin	A	G	8: 111,329,848 (GRCm39)	R4861G	possibly damaging	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 53,032,934 (GRCm39)	74	probably benign	Het
Lipe	T	C	7: 25,084,320 (GRCm39)	E588G	possibly damaging	Het
Mael	T	C	1: 166,032,375 (GRCm39)	D328G	probably damaging	Het
Mboat7	A	G	7: 3,681,687 (GRCm39)	V398A	probably benign	Het
Slc35e1	A	G	8: 73,238,735 (GRCm39)	W258R	probably benign	Het
Slc9a8	A	G	2: 167,293,201 (GRCm39)	D183G	probably damaging	Het
Sorcs1	G	A	19: 50,213,613 (GRCm39)	R705C	probably damaging	Het
Sult3a1	G	A	10: 33,753,345 (GRCm39)	D214N	possibly damaging	Het
Traf3ip1	T	C	1: 91,447,822 (GRCm39)	V433A	probably damaging	Het
Ubxn7	T	A	16: 32,194,125 (GRCm39)	D232E	probably benign	Het
Upf1	C	T	8: 70,791,110 (GRCm39)	R544H	probably damaging	Het
Vps13c	T	C	9: 67,831,052 (GRCm39)	S1561P	probably benign	Het
Wdr48	T	C	9: 119,753,176 (GRCm39)	V593A	probably benign	Het
Zfp58	A	G	13: 67,640,231 (GRCm39)	F87L	probably benign	Het
Zfp663	A	T	2: 165,195,616 (GRCm39)	L201*	probably null	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
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'- GCAGCCAATCATTTGCACTG -3'
(R):5'- ACACAACCTTTAGGCTACTCCTG -3'

Sequencing Primer
(F):5'- ATCATTTGCACTGGGACACG -3'
(R):5'- CTTTCGTATCACATGCCAGGATGAC -3'

Posted On

2015-02-05