Mutagenetix > Incidental Mutation

Incidental Mutation 'R7206:Ccdc170'

560631

Institutional Source

Beutler Lab

Gene Symbol

Ccdc170

Ensembl Gene

ENSMUSG00000019767

Gene Name

coiled-coil domain containing 170

Synonyms

Gm221, LOC237250

MMRRC Submission

045284-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.388) question?

Stock #

R7206 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4482502-4562231 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 4514120 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 87 (M87K)

Ref Sequence

ENSEMBL: ENSMUSP00000115997 (fasta)

Gene Model

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

AlphaFold

D3YXL0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000019901
AA Change: M81K

PolyPhen 2 Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000019901
Gene: ENSMUSG00000019767
AA Change: M81K

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: M87K

PolyPhen 2 Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000115997
Gene: ENSMUSG00000019767
AA Change: M87K

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

possibly damaging
Transcript: ENSMUST00000145465
AA Change: M33K

PolyPhen 2 Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000122673
Gene: ENSMUSG00000019767
AA Change: M33K

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

Meta Mutation Damage Score

0.1107

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

99% (87/88)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2	G	A	3: 60,025,241	M392I	probably benign	Het
Acr	T	C	15: 89,574,171	S352P	probably benign	Het
Adam6a	T	C	12: 113,546,034	C676R	probably damaging	Het
Adgra3	T	C	5: 50,006,896	D247G	probably damaging	Het
Agxt2	A	T	15: 10,377,456	E147D	probably damaging	Het
Atp2a1	T	C	7: 126,447,972	T805A	probably benign	Het
Atp8b4	T	C	2: 126,458,292	S106G	probably damaging	Het
Ccnl2	T	G	4: 155,820,974	V287G	possibly damaging	Het
Ccr6	A	T	17: 8,256,949	M329L	probably benign	Het
Cflar	G	T	1: 58,740,991	M248I		Het
Cib4	A	T	5: 30,545,766	L5*	probably null	Het
Col27a1	A	T	4: 63,235,346	Y645F	probably benign	Het
Cxcr2	A	G	1: 74,159,054	T236A	possibly damaging	Het
Dnah12	G	A	14: 26,778,912		probably null	Het
Dnah7a	A	T	1: 53,698,633	L47*	probably null	Het
Dnajb6	A	C	5: 29,781,337	K301T	possibly damaging	Het
Dpf2	T	A	19: 5,904,543	I157F	possibly damaging	Het
Drd4	G	A	7: 141,292,119	G28R	probably damaging	Het
Dupd1	A	G	14: 21,677,034	V182A	probably damaging	Het
Dus3l	A	T	17: 56,767,807	I310F	probably damaging	Het
Eef1akmt3	A	G	10: 127,040,993	L95P	probably damaging	Het
Fabp7	C	T	10: 57,784,991		probably benign	Het
Fam135a	T	C	1: 24,030,273	N505S	probably benign	Het
Fam213a	T	A	14: 41,004,185	M12L	probably benign	Het
Fam216b	C	A	14: 78,085,127	D46Y	probably damaging	Het
Gata6	C	T	18: 11,054,850	R260C	probably damaging	Het
Gm10800	A	AC	2: 98,667,033		probably null	Het
Gm13124	T	A	4: 144,558,641	D142V	probably damaging	Het
Golgb1	A	G	16: 36,913,749	I1160M	probably benign	Het
Hfe2	A	T	3: 96,528,128	D234V	probably damaging	Het
Kiss1	A	G	1: 133,327,325	K26E	probably benign	Het
Knl1	T	A	2: 119,069,299	F494I	probably benign	Het
Ktn1	T	C	14: 47,695,528	L713S	probably damaging	Het
Loxhd1	A	G	18: 77,441,817	D2052G	probably damaging	Het
Lpo	A	C	11: 87,807,423	L582R	probably damaging	Het
Map2k3	A	G	11: 60,943,580	T125A		Het
Matn3	T	A	12: 8,961,170	N360K	probably benign	Het
Mlip	A	T	9: 77,164,862	V237E	probably damaging	Het
Mms22l	T	C	4: 24,591,146	V999A	probably benign	Het
Mn1	A	G	5: 111,420,512	K783E	possibly damaging	Het
Myo1h	A	T	5: 114,319,775	K132*	probably null	Het
Nle1	A	G	11: 82,904,931	V230A	probably benign	Het
Olfr1240	T	C	2: 89,440,457		probably benign	Het
Olfr1318	T	G	2: 112,156,459	C169W	probably damaging	Het
Olfr22-ps1	A	T	11: 73,954,821	I44F	probably benign	Het
Olfr356	T	A	2: 36,937,772	Y218N	probably damaging	Het
Olfr564	T	C	7: 102,803,684	S69P	probably damaging	Het
Olfr860	C	T	9: 19,846,560	D20N	probably damaging	Het
Ormdl2	T	A	10: 128,820,415	H7L	possibly damaging	Het
Pam	A	G	1: 97,896,032	S225P	probably damaging	Het
Pan2	C	A	10: 128,314,545	Y719*	probably null	Het
Ppfia4	T	C	1: 134,327,389	S243G	probably benign	Het
Ppig	T	G	2: 69,741,566	S210A	unknown	Het
Ppwd1	A	T	13: 104,213,598	N426K	probably damaging	Het
Rnf10	T	G	5: 115,244,121	D675A	probably benign	Het
Rrp12	A	T	19: 41,878,039	L619H	probably damaging	Het
Rsph10b	C	T	5: 143,961,192	T497I	possibly damaging	Het
Scnm1	A	T	3: 95,133,894	M1K	probably null	Het
Scp2	G	T	4: 108,074,441	D332E	probably benign	Het
Senp3	T	C	11: 69,678,731	I314V	probably benign	Het
Sfmbt1	T	A	14: 30,811,373		probably null	Het
Slc44a2	T	C	9: 21,346,807	F451S	probably damaging	Het
Slfn1	A	T	11: 83,122,011	M318L	probably benign	Het
Syne2	C	T	12: 76,004,757	S4087L	probably benign	Het
Syt7	A	G	19: 10,417,973	Y49C	probably damaging	Het
Tas2r134	T	C	2: 51,628,108	Y200H	probably benign	Het
Tgfbr1	A	T	4: 47,402,941	H315L	probably damaging	Het
Tmem184c	A	G	8: 77,596,577	V552A	possibly damaging	Het
Tnxb	A	G	17: 34,704,101	R2553G	possibly damaging	Het
Tomm40	C	G	7: 19,710,936	R173S	probably benign	Het
Tonsl	T	C	15: 76,633,651	D650G	probably damaging	Het
Tpo	G	C	12: 30,103,134	S407W	possibly damaging	Het
Trank1	T	C	9: 111,345,515		probably null	Het
Trp53tg5	T	C	2: 164,471,458	E99G	probably damaging	Het
Tubb2a	C	A	13: 34,075,522	S95I	possibly damaging	Het
Vav2	C	A	2: 27,336,719	R114L	probably benign	Het
Vmn1r172	A	T	7: 23,660,157	I156L	possibly damaging	Het
Vmn1r238	A	G	18: 3,122,623	Y264H	possibly damaging	Het
Vmn2r26	T	A	6: 124,039,768	M397K	probably benign	Het
Vmn2r73	T	C	7: 85,872,867	N88S	probably benign	Het
Vps13a	T	C	19: 16,754,298	N150S	probably damaging	Het
Vps35	A	T	8: 85,287,721	Y100N	probably damaging	Het
Vps8	A	C	16: 21,457,421	I235L	probably damaging	Het
Yipf2	T	A	9: 21,590,361	H157L	probably damaging	Het
Zfp354a	A	T	11: 51,070,246	H426L	probably damaging	Het
Zfp503	G	T	14: 21,985,485	S454R	possibly damaging	Het
Zfp619	C	T	7: 39,535,400	R285C	probably benign	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
R5170:Ccdc170	UTSW	10	4514200	missense	probably damaging	0.99
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
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
R8942:Ccdc170	UTSW	10	4534044	missense	probably benign	0.07
R9069:Ccdc170	UTSW	10	4561016	missense	possibly damaging	0.46
R9355:Ccdc170	UTSW	10	4558695	missense	probably benign	0.17
R9790:Ccdc170	UTSW	10	4533957	critical splice acceptor site	probably null
R9791:Ccdc170	UTSW	10	4533957	critical splice acceptor site	probably null
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'- CCCGAGTGGCATGAAATCAAC -3'
(R):5'- TAGCCACTAACAAACTGGGG -3'

Sequencing Primer
(F):5'- GGCATGAAATCAACTTAAGATGCTGC -3'
(R):5'- CCACTAACAAACTGGGGGATGTTTC -3'

Posted On

2019-06-26