Mutagenetix > Incidental Mutation

Incidental Mutation 'R9791:Ccdc170'

734622

Institutional Source

Beutler Lab

Gene Symbol

Ccdc170

Ensembl Gene

ENSMUSG00000019767

Gene Name

coiled-coil domain containing 170

Synonyms

Gm221, LOC237250

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9791 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

4432502-4512231 bp(+) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

A to T at 4483957 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000115997 (fasta)

Gene Model

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

Predicted Effect

probably null
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: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.5%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	T	C	5: 8,748,604 (GRCm39)	Y312H	probably damaging	Het
Abcc10	A	T	17: 46,633,185 (GRCm39)	I549N	probably damaging	Het
Agpat2	A	G	2: 26,486,395 (GRCm39)	Y134H	probably damaging	Het
Alms1	A	G	6: 85,596,425 (GRCm39)	D417G	probably benign	Het
Apol11b	T	A	15: 77,519,475 (GRCm39)	I202F	probably benign	Het
Arap1	C	A	7: 101,037,376 (GRCm39)	Q468K	probably benign	Het
Arhgef4	T	C	1: 34,832,445 (GRCm39)		probably null	Het
Asap3	A	T	4: 135,961,914 (GRCm39)	N285I	probably damaging	Het
Aspm	A	T	1: 139,408,375 (GRCm39)	I2421F	probably damaging	Het
Banp	C	A	8: 122,701,285 (GRCm39)	D17E	probably benign	Het
Bsx	T	G	9: 40,788,905 (GRCm39)	V154G	probably damaging	Het
Cacnb1	T	C	11: 97,900,186 (GRCm39)	D324G	probably damaging	Het
Ccdc187	T	C	2: 26,171,227 (GRCm39)	H417R	probably benign	Het
Cct4	T	A	11: 22,949,070 (GRCm39)	M272K	probably damaging	Het
Chd9	A	G	8: 91,760,417 (GRCm39)	E2054G	possibly damaging	Het
Ctnnal1	A	T	4: 56,844,584 (GRCm39)	S127T	possibly damaging	Het
Cttnbp2	T	A	6: 18,376,027 (GRCm39)	H1504L	probably benign	Het
Cyp4a29	T	A	4: 115,108,380 (GRCm39)	M368K	probably damaging	Het
Dhx32	A	G	7: 133,326,267 (GRCm39)	F527L	probably benign	Het
Foxk1	T	C	5: 142,387,739 (GRCm39)	V154A	probably damaging	Het
Frem3	G	A	8: 81,339,890 (GRCm39)	E728K	probably benign	Het
Gemin5	G	A	11: 58,020,846 (GRCm39)	Q1114*	probably null	Het
Gm11567	C	T	11: 99,770,274 (GRCm39)	R71C	unknown	Het
Gm13272	T	C	4: 88,698,442 (GRCm39)	V119A	probably benign	Het
Gpc6	T	A	14: 117,163,435 (GRCm39)	C30S	probably damaging	Het
Gprc6a	A	C	10: 51,491,395 (GRCm39)	F785V	probably damaging	Het
Hormad1	T	C	3: 95,494,693 (GRCm39)	V368A	probably benign	Het
Hsd17b4	G	A	18: 50,324,907 (GRCm39)		probably null	Het
Il17ra	C	T	6: 120,459,240 (GRCm39)	S797F	probably damaging	Het
Jmjd6	A	G	11: 116,733,438 (GRCm39)	S80P	probably benign	Het
Klhdc2	T	A	12: 69,346,995 (GRCm39)	N53K	probably benign	Het
Klhl30	C	T	1: 91,282,089 (GRCm39)	P230L	probably benign	Het
Marchf1	C	A	8: 66,729,339 (GRCm39)	A46E	probably benign	Het
Mast4	T	C	13: 102,890,705 (GRCm39)	T1050A	probably benign	Het
Mpp7	T	C	18: 7,355,049 (GRCm39)	N459S	probably benign	Het
Mtfr1l	A	G	4: 134,258,063 (GRCm39)	V53A	probably benign	Het
Myh11	T	A	16: 14,025,992 (GRCm39)	E1326V		Het
Myh3	A	G	11: 66,992,005 (GRCm39)	E1850G	probably damaging	Het
Myo16	A	G	8: 10,619,925 (GRCm39)	D1492G	unknown	Het
Myo3b	C	A	2: 70,180,287 (GRCm39)	H1219Q	probably benign	Het
Nphp4	A	T	4: 152,646,605 (GRCm39)	Q1379L	probably null	Het
Or8g30	C	T	9: 39,230,815 (GRCm39)	V32I	probably benign	Het
Or9q1	A	G	19: 13,804,914 (GRCm39)	I282T	probably benign	Het
Osbpl6	T	G	2: 76,385,361 (GRCm39)	L265R	probably damaging	Het
Pld4	A	G	12: 112,734,862 (GRCm39)	T440A	probably damaging	Het
Prr14	T	C	7: 127,071,128 (GRCm39)	M1T	probably null	Het
Ptger4	A	T	15: 5,273,178 (GRCm39)	M1K	probably null	Het
Ptpn22	A	T	3: 103,795,842 (GRCm39)	T608S	possibly damaging	Het
S1pr2	A	G	9: 20,879,319 (GRCm39)	W170R	probably damaging	Het
Specc1l	A	G	10: 75,066,603 (GRCm39)	I17M	probably benign	Het
Spmap1	T	A	11: 97,666,594 (GRCm39)	I31F	probably benign	Het
Sptbn4	C	G	7: 27,071,662 (GRCm39)	G1601R	probably damaging	Het
Sqor	C	T	2: 122,626,912 (GRCm39)	P11L	probably benign	Het
Stac2	T	C	11: 97,934,449 (GRCm39)	D85G	probably benign	Het
Svs5	G	A	2: 164,078,918 (GRCm39)	Q330*	probably null	Het
Taar7e	A	G	10: 23,913,554 (GRCm39)	I15V	probably benign	Het
Tcf4	A	T	18: 69,770,007 (GRCm39)	Y275F	probably damaging	Het
Tenm4	A	G	7: 96,538,046 (GRCm39)	N1873S	probably damaging	Het
Tert	T	A	13: 73,775,648 (GRCm39)	V133D	probably benign	Het
Tfap2a	T	A	13: 40,870,658 (GRCm39)	N410I	probably damaging	Het
Tjp3	A	T	10: 81,109,694 (GRCm39)	D836E	probably benign	Het
Tox3	A	T	8: 90,975,206 (GRCm39)	M475K	unknown	Het
Traf4	A	T	11: 78,050,979 (GRCm39)	D392E	probably damaging	Het
Vav2	A	G	2: 27,181,825 (GRCm39)	L338P	probably damaging	Het
Vmn1r81	T	C	7: 11,994,113 (GRCm39)	N165S	probably benign	Het
Vmn2r9	A	T	5: 108,995,409 (GRCm39)	V413E	probably damaging	Het
Wdr7	A	T	18: 63,911,059 (GRCm39)	D817V	probably damaging	Het
Zbtb38	G	A	9: 96,570,700 (GRCm39)	S128L	probably damaging	Het
Zfhx4	T	A	3: 5,464,922 (GRCm39)	H1718Q	probably damaging	Het
Zfp945	G	A	17: 23,071,228 (GRCm39)	H245Y	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
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'- AAAATAGCAACTCTATTCAAGTCACA -3'
(R):5'- CCCTGCTGGCCTTCAAGC -3'

Sequencing Primer
(F):5'- AGACGGGCAGCTAGTTCTCTTAAC -3'
(R):5'- TGGCCTTCAAGCTCACATCCAG -3'

Posted On

2022-11-14