Mutagenetix > Incidental Mutation

Incidental Mutation 'R7847:Ccdc17'

606673

Institutional Source

Beutler Lab

Gene Symbol

Ccdc17

Ensembl Gene

ENSMUSG00000034035

Gene Name

coiled-coil domain containing 17

Synonyms

1100001F07Rik

MMRRC Submission

Accession Numbers

Genbank: NM_001037916

Is this an essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R7847 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

116596654-116600266 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 116599906 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 529 (E529G)

Ref Sequence

ENSEMBL: ENSMUSP00000059848 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030456] [ENSMUST00000030457] [ENSMUST00000051869] [ENSMUST00000081182]

AlphaFold

Q8CE13

Predicted Effect

probably benign
Transcript: ENSMUST00000030456

SMART Domains

Protein: ENSMUSP00000030456
Gene: ENSMUSG00000028693

Domain	Start	End	E-Value	Type
low complexity region	2	18	N/A	INTRINSIC
TPR	43	76	8.51e0	SMART
low complexity region	111	126	N/A	INTRINSIC
low complexity region	152	162	N/A	INTRINSIC
low complexity region	336	352	N/A	INTRINSIC
low complexity region	455	478	N/A	INTRINSIC
low complexity region	492	503	N/A	INTRINSIC
TPR	528	561	3.05e0	SMART
TPR	570	603	2.38e-2	SMART
low complexity region	620	640	N/A	INTRINSIC
low complexity region	703	715	N/A	INTRINSIC
low complexity region	742	759	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000030457

SMART Domains

Protein: ENSMUSP00000030457
Gene: ENSMUSG00000028693

Domain	Start	End	E-Value	Type
low complexity region	2	18	N/A	INTRINSIC
TPR	43	76	8.51e0	SMART
low complexity region	111	126	N/A	INTRINSIC
low complexity region	133	153	N/A	INTRINSIC
low complexity region	167	178	N/A	INTRINSIC
TPR	203	236	3.05e0	SMART
TPR	245	278	2.38e-2	SMART
low complexity region	295	315	N/A	INTRINSIC
low complexity region	378	390	N/A	INTRINSIC
low complexity region	417	434	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000051869
AA Change: E529G

PolyPhen 2 Score 0.344 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000059848
Gene: ENSMUSG00000034035
AA Change: E529G

Domain	Start	End	E-Value	Type
coiled coil region	97	161	N/A	INTRINSIC
coiled coil region	219	270	N/A	INTRINSIC
low complexity region	415	427	N/A	INTRINSIC
low complexity region	523	537	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000081182

SMART Domains

Protein: ENSMUSP00000079946
Gene: ENSMUSG00000028693

Domain	Start	End	E-Value	Type
low complexity region	2	18	N/A	INTRINSIC
TPR	43	76	6.2e-2	SMART
low complexity region	84	99	N/A	INTRINSIC
low complexity region	106	126	N/A	INTRINSIC
low complexity region	140	151	N/A	INTRINSIC
TPR	176	209	1.4e-2	SMART
TPR	218	251	1.1e-4	SMART
low complexity region	268	288	N/A	INTRINSIC
low complexity region	351	363	N/A	INTRINSIC
low complexity region	390	407	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (45/45)

Allele List at MGI

All alleles(2) : Targeted, knock-out(1) Gene trapped(1)

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300002M23Rik	T	A	17: 35,568,652	Y296N	probably benign	Het
Abcc4	T	C	14: 118,627,480	E378G	probably damaging	Het
Acp2	C	T	2: 91,210,732	H422Y	possibly damaging	Het
Aldoart1	C	T	4: 72,851,956	C205Y	probably damaging	Het
Alg9	T	C	9: 50,789,605	L225S	possibly damaging	Het
Anapc1	A	C	2: 128,669,908	V455G	possibly damaging	Het
Arhgef5	C	A	6: 43,275,135	S940*	probably null	Het
Asb15	C	A	6: 24,564,267	A240E	probably damaging	Het
BB014433	GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTACACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG	GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG	8: 15,042,160		probably benign	Het
Cyp2b10	T	C	7: 25,897,760	S26P	possibly damaging	Het
Dcp1b	T	C	6: 119,215,295	S391P	probably benign	Het
Dock6	A	T	9: 21,801,207	L2086Q	unknown	Het
Ephx1	A	G	1: 181,001,861	S41P	probably benign	Het
Erbb3	G	A	10: 128,571,189	T1034M	probably damaging	Het
Gm17334	T	A	11: 53,772,738		probably benign	Het
Golgb1	A	G	16: 36,931,920	H3227R	probably damaging	Het
Grin2c	G	A	11: 115,260,978	P52L	possibly damaging	Het
Herc2	T	C	7: 56,157,560		probably null	Het
Il17rb	A	G	14: 29,996,806	Y440H	probably damaging	Het
Kcng4	A	G	8: 119,626,142	L343P	probably damaging	Het
Knl1	G	A	2: 119,070,976	E1053K	probably benign	Het
Lipo4	A	T	19: 33,514,199	V128E	possibly damaging	Het
Lmntd2	T	C	7: 141,210,150	N650D	probably benign	Het
Lrrfip2	T	C	9: 111,213,880	L460P	probably damaging	Het
Man2a2	G	C	7: 80,368,865	A82G	probably benign	Het
Mtcl1	T	C	17: 66,344,333	Q1379R	probably damaging	Het
Mtfr2	G	A	10: 20,357,452	A256T	probably benign	Het
Mup17	T	A	4: 61,593,219	H159L	probably benign	Het
Ndufaf1	A	T	2: 119,660,053	D175E	probably damaging	Het
Nup210l	A	G	3: 90,151,123	M610V	probably benign	Het
Olfr1338	G	T	4: 118,754,368	H59N	possibly damaging	Het
Olfr1354	T	A	10: 78,916,896	S19T	probably benign	Het
Olfr955	A	G	9: 39,470,505	S74P	probably benign	Het
Pard3b	A	G	1: 62,343,934	D729G	probably benign	Het
Phactr1	T	C	13: 43,057,188	L169P	possibly damaging	Het
Rad54b	T	A	4: 11,612,655	S762R	probably damaging	Het
Senp5	C	T	16: 31,990,173	V88I	probably benign	Het
Specc1l	T	C	10: 75,309,836	V1105A	probably damaging	Het
Trak2	A	C	1: 58,935,818	S72A	possibly damaging	Het
Ttyh2	T	C	11: 114,675,674		probably null	Het
Ush2a	G	A	1: 188,430,808	C1029Y	probably damaging	Het
Vmn2r17	A	G	5: 109,420,197	Y62C	probably damaging	Het
Vmn2r41	A	G	7: 8,161,548	F2L	probably benign	Het
Xirp1	G	T	9: 120,019,753	D21E	possibly damaging	Het
Zfp114	C	A	7: 24,181,035	Q270K	possibly damaging	Het
Zfp341	T	C	2: 154,634,194	S441P	probably damaging	Het
Zfp780b	A	C	7: 27,964,418	H237Q	probably benign	Het

Other mutations in Ccdc17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01661:Ccdc17	APN	4	116597866	missense	probably benign
IGL03106:Ccdc17	APN	4	116596836	splice site	probably null
IGL03169:Ccdc17	APN	4	116597760	missense	probably damaging	1.00
IGL03288:Ccdc17	APN	4	116599429	missense	probably damaging	1.00
dandy	UTSW	4	116599592	missense	probably damaging	1.00
Dondi	UTSW	4	116598548	missense	probably damaging	1.00
G5030:Ccdc17	UTSW	4	116598502	missense	probably benign	0.42
R0628:Ccdc17	UTSW	4	116598548	missense	probably damaging	1.00
R1033:Ccdc17	UTSW	4	116596880	nonsense	probably null
R2041:Ccdc17	UTSW	4	116599592	missense	probably damaging	1.00
R3107:Ccdc17	UTSW	4	116598267	missense	probably benign	0.02
R3122:Ccdc17	UTSW	4	116599552	unclassified	probably benign
R4498:Ccdc17	UTSW	4	116597241	unclassified	probably benign
R5705:Ccdc17	UTSW	4	116596869	missense	probably benign	0.10
R6052:Ccdc17	UTSW	4	116599948	splice site	probably null
R6083:Ccdc17	UTSW	4	116596926	missense	possibly damaging	0.89
R6925:Ccdc17	UTSW	4	116598210	missense	probably damaging	1.00
R7677:Ccdc17	UTSW	4	116597765	critical splice donor site	probably null
R8195:Ccdc17	UTSW	4	116599014	missense	possibly damaging	0.75
R8195:Ccdc17	UTSW	4	116599016	missense	probably damaging	0.99
R8428:Ccdc17	UTSW	4	116599626	missense	probably damaging	1.00
R8750:Ccdc17	UTSW	4	116599932	missense	possibly damaging	0.93
R9296:Ccdc17	UTSW	4	116599389	missense	probably damaging	1.00
R9483:Ccdc17	UTSW	4	116596947	missense	probably benign	0.42
R9526:Ccdc17	UTSW	4	116598797	missense	possibly damaging	0.69
R9589:Ccdc17	UTSW	4	116597594	missense	probably benign	0.25
R9715:Ccdc17	UTSW	4	116597893	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCACTTCTGGTCAGCCTGTAG -3'
(R):5'- TGGCCACTGTTACAAGACC -3'

Sequencing Primer
(F):5'- GCTAAGCAGCTTCTATTAGATAGTG -3'
(R):5'- CCCATTTAAAAAGCTGCAGGTCTAG -3'

Posted On

2019-12-20