Mutagenetix > Incidental Mutation

Incidental Mutation 'RF017:Ccdc170'

603629

Institutional Source

Beutler Lab

Gene Symbol

Ccdc170

Ensembl Gene

ENSMUSG00000019767

Gene Name

coiled-coil domain containing 170

Synonyms

Gm221, LOC237250

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.298) question?

Stock #

RF017 (G1)

Quality Score

178.468

Status

Not validated

Chromosome

Chromosomal Location

4482502-4562231 bp(+) (GRCm38)

Type of Mutation

small insertion (1 aa in frame mutation)

DNA Base Change (assembly)

CCA to CCAGCA at 4561024 bp (GRCm38)

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: 98.5%

Validation Efficiency

100% (29/29)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932415D10Rik	AA	AACTGTCA	10: 82,290,992		probably benign	Het
Ahdc1	ACCACC	ACCACCACC	4: 133,062,751		probably benign	Het
Ankhd1	GGCGGC	GGCGGCCGCGGC	18: 36,560,909		probably benign	Het
Anks1b	G	A	10: 90,033,225	G49D	probably damaging	Het
AY358078	T	TAGGATAATGA	14: 51,805,593		probably null	Het
Cntrl	C	A	2: 35,175,189	D2168E	probably damaging	Het
Dab1	C	A	4: 104,713,652	R195S	probably benign	Het
Dnmt1	AGCACAGTTCCTACCTCGTT	AGCACAGTTCCTACCTCGTTTTGGGGGCGGCGCACAGTTCCTACCTCGTT	9: 20,910,126		probably null	Het
Elp6	A	T	9: 110,319,709	H222L	probably damaging	Het
Entpd2	CTT	CTTT	2: 25,400,895		probably null	Het
Fam71e1	GTCTGAGGGAGGA	GTCTGAGGGAGGAAGGCTGGATCCTGGATACCTGGATCTGAGGGAGGA	7: 44,500,525		probably null	Het
Fam71e1	GGGAGGA	GGGAGGAAGGCTGGATCCTGGATACCTGGGTCTGATGGAGGA	7: 44,500,531		probably null	Het
Fgf22	A	G	10: 79,756,846	H125R	probably benign	Het
Galnt18	G	A	7: 111,599,014	R180C	probably damaging	Het
Gm4969	T	C	7: 19,102,429	N291S	unknown	Het
Gm8369	GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	19: 11,511,742		probably null	Het
Gpsm1	C	A	2: 26,324,872	H288Q	probably damaging	Het
Ipo7	A	G	7: 110,048,794	I628V	probably benign	Het
Itpkb	C	T	1: 180,333,322	R338W	probably damaging	Het
Krtap28-10	CACAGC	CACAGCAACAGC	1: 83,042,138		probably benign	Het
Krtap28-10	CCACCACAGCCACAG	CCACCACAGCCACAGTCACCACAGCCACAG	1: 83,042,266		probably benign	Het
Krtap4-2	CAGCAGGGGCGGCA	C	11: 99,634,717		probably null	Het
Krtap4-9	TGCTGTGTGTCCAGCTGCTGCAG	TGCTGTGTGTCCAGCTGCTGCAGGCCCAGCGGCTGTGTGTCCAGCTGCTGCAG	11: 99,785,399		probably benign	Het
Larp4b	G	T	13: 9,123,910	G30V	probably benign	Het
Lrmp	GCACATTG	GCACATTGATCACATTG	6: 145,173,784		probably benign	Het
Map1a	CTCCAGCTCCA	CTCCAGCTCCAGCTCCAGCTCCAGCTCCAGGTCCAGCTCCA	2: 121,306,308		probably benign	Het
Mccc2	A	C	13: 100,000,288	V53G	probably damaging	Het
Mug1	T	A	6: 121,884,574	Y1332N	probably damaging	Het
Ndnf	A	G	6: 65,704,329	T531A	probably damaging	Het
Ntsr2	T	G	12: 16,659,765	V349G	probably damaging	Het
Olfr117	A	T	17: 37,659,781	I184N	probably damaging	Het
P2ry14	A	T	3: 59,115,046	I331N	probably benign	Het
Pcdha11	T	C	18: 37,005,524	S69P	possibly damaging	Het
Ptp4a2	A	G	4: 129,839,444		probably benign	Het
Ptpn13	A	G	5: 103,593,580	D2353G	probably benign	Het
Rasa2	GCC	GCCCCC	9: 96,631,468		probably benign	Het
Raver2	A	T	4: 101,102,998	D225V	probably damaging	Het
Rph3a	A	T	5: 120,962,499		probably null	Het
Sin3a	T	A	9: 57,127,326	V1261E	possibly damaging	Het
Slc12a9	T	A	5: 137,325,550	I368F	probably damaging	Het
Spaca1	CTCGC	CTCGCTGTCGC	4: 34,049,853		probably benign	Het
Strn	C	CCGTGCTCCCTTACCCCAGTCCGTGCTCCCTTACCCCAGTG	17: 78,677,288		probably null	Het
Tmem28	GCCGCC	GCCGCCACCGCC	X: 99,821,365		probably benign	Het
Ush2a	A	C	1: 188,263,469	T146P	probably damaging	Het
Usp37	A	G	1: 74,470,690	L440P	probably damaging	Het
Wdr66	AAGAGGAGGAAGAGGAGGGGGAGAAGGAG	AAGAGGAGGAAGAGGAGGGGGAGAAGGAGGAAAAGGAGAAAGAGGAGGAAGAGGAGGGGGAGAAGGAG	5: 123,253,890		probably benign	Het
Xpnpep1	T	A	19: 53,032,060	I24L	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
R7206:Ccdc170	UTSW	10	4514120	missense	possibly damaging	0.66
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
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'- CTATTGTTGTTGCACTTGACCCAG -3'
(R):5'- GTCACACACTATGGCTGAATTTC -3'

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

Posted On

2019-12-04