Mutagenetix > Incidental Mutations

Incidental Mutation 'R7393:Ccdc170'

573607

Institutional Source

Beutler Lab

Gene Symbol

Ccdc170

Ensembl Gene

ENSMUSG00000019767

Gene Name

coiled-coil domain containing 170

Synonyms

Gm221, LOC237250

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.313) question?

Stock #

R7393 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

4482502-4562231 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 4514314 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000115997 (fasta)

Gene Model

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

Predicted Effect

probably null
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 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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010107E04Rik	A	G	12: 111,963,277	V26A	probably benign	Het
Abcb11	C	T	2: 69,299,867	D282N	probably damaging	Het
Abi2	T	C	1: 60,434,382	M86T	possibly damaging	Het
Adam26a	T	C	8: 43,569,688	N255S	probably benign	Het
Adam4	G	A	12: 81,419,660	S729L	probably benign	Het
Adcy1	G	T	11: 7,137,381	W418C	probably damaging	Het
Add2	T	A	6: 86,098,647	Y259*	probably null	Het
Agl	A	T	3: 116,791,156	C172S	probably benign	Het
Ankfy1	A	G	11: 72,738,308	T319A	possibly damaging	Het
Armc8	A	T	9: 99,483,999	C621S	possibly damaging	Het
Bbc3	A	G	7: 16,313,789	D146G	probably benign	Het
Btnl10	T	C	11: 58,923,706	L404P	probably damaging	Het
Cbl	A	G	9: 44,154,188		probably null	Het
Ccdc91	T	A	6: 147,534,029	V37E	possibly damaging	Het
Ces1e	G	T	8: 93,210,417	T343K	probably benign	Het
Chfr	T	A	5: 110,152,358	F323I	probably damaging	Het
Clcnkb	T	A	4: 141,409,445	M370L	probably benign	Het
Col11a1	A	G	3: 114,097,106	D364G	unknown	Het
Ctbp2	A	G	7: 132,988,292	I381T	probably benign	Het
Cyp4a29	A	C	4: 115,242,196	Y38S	probably damaging	Het
Ddx1	T	C	12: 13,230,353	D382G	probably benign	Het
Dhx57	T	A	17: 80,255,571	N876Y	probably damaging	Het
Dsel	C	T	1: 111,861,573	G411S	probably damaging	Het
Enpp5	G	A	17: 44,085,264	G356S	probably damaging	Het
Fam234a	T	C	17: 26,216,624	D262G	probably benign	Het
Fnbp4	C	A	2: 90,779,316	Q1035K	probably damaging	Het
Gbp11	T	A	5: 105,327,577	N302Y	possibly damaging	Het
Gm11554	T	A	11: 99,803,872	T172S	unknown	Het
Hamp2	A	T	7: 30,922,605	M53K	possibly damaging	Het
Kcnj1	A	G	9: 32,397,018	D246G	probably damaging	Het
Kctd20	T	C	17: 28,963,338	F209L	probably damaging	Het
Klra2	T	C	6: 131,230,202	Y148C	probably damaging	Het
Krtap15	T	C	16: 88,829,097		probably null	Het
Mrps23	T	C	11: 88,204,458	L6P	probably damaging	Het
Ms4a6d	G	A	19: 11,590,073	Q155*	probably null	Het
Myo7a	G	A	7: 98,063,699	R1690C	possibly damaging	Het
Nbas	T	C	12: 13,393,492	S1183P	probably damaging	Het
Ndufaf4	T	A	4: 24,903,177	M122K	probably benign	Het
Nop2	C	A	6: 125,133,546	S45*	probably null	Het
Nop56	T	A	2: 130,274,638	L3Q	probably benign	Het
Nrp2	T	C	1: 62,745,424	I244T	probably damaging	Het
Olfr1426	T	A	19: 12,088,628	T55S	probably benign	Het
Olfr620	A	G	7: 103,611,991	S121P	possibly damaging	Het
Otof	T	C	5: 30,370,270	D1941G	probably benign	Het
Pcyox1l	T	C	18: 61,697,641	K387E	probably benign	Het
Plcg2	A	G	8: 117,579,825	Y306C	possibly damaging	Het
Ppp1r13b	G	A	12: 111,838,754	P333S	probably damaging	Het
Rcc2	A	G	4: 140,717,030	D344G	probably damaging	Het
Reln	A	T	5: 21,976,351	N1810K	probably damaging	Het
Rfesd	G	T	13: 76,003,030	A90E	probably benign	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,579,917		probably benign	Het
Scg2	T	C	1: 79,435,231	K552E	probably damaging	Het
Sdccag8	A	G	1: 176,840,306	I190V	probably benign	Het
Sele	C	A	1: 164,053,923	T533K	probably benign	Het
Sh3bp4	T	A	1: 89,144,448	H339Q	possibly damaging	Het
Slc6a19	A	G	13: 73,692,974	S106P	probably benign	Het
Spidr	C	T	16: 16,146,831		probably benign	Het
Stk36	A	T	1: 74,611,193	K295*	probably null	Het
Synj1	A	T	16: 90,951,999	D1056E	probably damaging	Het
Tnks1bp1	T	C	2: 85,062,866	S1046P	probably benign	Het
Ttc27	T	G	17: 74,770,264	F385V	possibly damaging	Het
Ttn	C	A	2: 76,944,345	G2164W	unknown	Het
Ubap1	T	A	4: 41,379,764	L326*	probably null	Het
Ubr4	A	G	4: 139,426,785	N812S	probably damaging	Het
Vmn1r160	A	G	7: 22,871,353	T44A	possibly damaging	Het
Vmn1r28	G	A	6: 58,265,589	S139N	possibly damaging	Het
Vmn2r116	A	G	17: 23,386,125	I137M	probably benign	Het
Vmn2r67	A	T	7: 85,155,878	W9R	probably null	Het
Zfp101	T	C	17: 33,386,700	N45D	possibly damaging	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
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
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'- CCAGAAAGTCAGCTCTCCTC -3'
(R):5'- AAGGTTCTACGCTTGCAAAAGAC -3'

Sequencing Primer
(F):5'- GAAAGTCAGCTCTCCTCACGTC -3'
(R):5'- GCTTGCAAAAGACAACACTGTGTTTG -3'

Posted On

2019-09-13