Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03106:Ccdc17'

418987

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ccdc17

Ensembl Gene

ENSMUSG00000034035

Gene Name

coiled-coil domain containing 17

Synonyms

1100001F07Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

IGL03106

Quality Score

Status

Chromosome

Chromosomal Location

116453927-116457463 bp(+) (GRCm39)

Type of Mutation

splice site (3800 bp from exon)

DNA Base Change (assembly)

A to G at 116454033 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000102083 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030456] [ENSMUST00000030457] [ENSMUST00000030460] [ENSMUST00000051869] [ENSMUST00000081182] [ENSMUST00000106475]

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 null
Transcript: ENSMUST00000030460

SMART Domains

Protein: ENSMUSP00000030460
Gene: ENSMUSG00000034042

Domain	Start	End	E-Value	Type
low complexity region	204	219	N/A	INTRINSIC
low complexity region	237	251	N/A	INTRINSIC
low complexity region	289	320	N/A	INTRINSIC
Pfam:Vasculin	376	470	5.1e-48	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000051869
AA Change: D17G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000059848
Gene: ENSMUSG00000034035
AA Change: D17G

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

Predicted Effect

probably null
Transcript: ENSMUST00000106475

SMART Domains

Protein: ENSMUSP00000102083
Gene: ENSMUSG00000034042

Domain	Start	End	E-Value	Type
low complexity region	204	219	N/A	INTRINSIC
low complexity region	237	251	N/A	INTRINSIC
low complexity region	289	320	N/A	INTRINSIC
Pfam:Vasculin	377	470	1.3e-44	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000121907

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148260

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151441

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142815

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146777

Coding Region Coverage

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam3	G	T	8: 25,205,135 (GRCm39)		probably benign	Het
Adgrv1	T	C	13: 81,621,018 (GRCm39)	N3911S	probably benign	Het
Alox12b	C	T	11: 69,059,702 (GRCm39)	Q585*	probably null	Het
Amtn	A	G	5: 88,525,944 (GRCm39)	Q36R	probably benign	Het
Arg2	G	A	12: 79,196,665 (GRCm39)	G129S	probably damaging	Het
Arhgef28	A	C	13: 98,094,301 (GRCm39)	Y948D	probably damaging	Het
Atp10b	T	C	11: 43,138,304 (GRCm39)	V1195A	probably benign	Het
Bet1l	G	T	7: 140,434,523 (GRCm39)	T42K	probably benign	Het
Cabin1	G	A	10: 75,569,462 (GRCm39)	T875I	probably benign	Het
Crebrf	A	G	17: 26,990,293 (GRCm39)	E612G	probably damaging	Het
Cyp2c67	A	T	19: 39,632,119 (GRCm39)	M83K	probably benign	Het
Dgkz	A	G	2: 91,771,204 (GRCm39)	S414P	probably damaging	Het
Dock10	G	T	1: 80,546,551 (GRCm39)	H411N	probably damaging	Het
Dpyd	A	T	3: 118,988,783 (GRCm39)	T749S	probably benign	Het
Dsc1	C	T	18: 20,219,701 (GRCm39)		probably null	Het
Echdc1	A	T	10: 29,198,276 (GRCm39)	M74L	probably damaging	Het
Edn1	C	A	13: 42,458,499 (GRCm39)	T104K	possibly damaging	Het
Fat2	T	A	11: 55,202,727 (GRCm39)	T116S	probably benign	Het
Fcrl5	A	T	3: 87,343,190 (GRCm39)		probably null	Het
Fpgt	C	T	3: 154,792,759 (GRCm39)	G423R	probably damaging	Het
Gprc5b	A	T	7: 118,583,416 (GRCm39)	V151E	probably damaging	Het
Grm5	A	G	7: 87,685,278 (GRCm39)	Y465C	probably damaging	Het
Idh3b	T	A	2: 130,126,321 (GRCm39)	N6I	probably benign	Het
Ighmbp2	T	C	19: 3,323,022 (GRCm39)	K308R	possibly damaging	Het
Lrch1	A	T	14: 75,073,202 (GRCm39)	S146T	possibly damaging	Het
Lyl1	C	T	8: 85,429,300 (GRCm39)	P3L	possibly damaging	Het
Mterf3	T	C	13: 67,078,221 (GRCm39)	K16R	probably damaging	Het
Ncapg	T	A	5: 45,853,010 (GRCm39)	H825Q	probably damaging	Het
Or2t1	G	A	14: 14,328,851 (GRCm38)	V247I	probably damaging	Het
Or2y1f	T	A	11: 49,184,988 (GRCm39)	I280N	probably damaging	Het
Or4d5	A	G	9: 40,012,030 (GRCm39)	V252A	probably damaging	Het
Or5b95	G	A	19: 12,658,287 (GRCm39)	V272M	possibly damaging	Het
Or5t15	A	C	2: 86,681,958 (GRCm39)	L28R	possibly damaging	Het
Or5w15	A	T	2: 87,568,462 (GRCm39)	S69T	probably benign	Het
Pald1	A	T	10: 61,182,884 (GRCm39)	M355K	probably benign	Het
Phc1	A	G	6: 122,300,428 (GRCm39)		probably benign	Het
Phkb	T	A	8: 86,745,095 (GRCm39)		probably benign	Het
Pkn3	G	T	2: 29,975,257 (GRCm39)	R506L	probably damaging	Het
Plod2	T	C	9: 92,455,620 (GRCm39)	Y100H	probably damaging	Het
Prl7b1	G	T	13: 27,790,918 (GRCm39)	Q56K	probably benign	Het
Rhot1	T	A	11: 80,133,407 (GRCm39)	C229*	probably null	Het
Sema3a	G	A	5: 13,649,456 (GRCm39)	R735Q	probably damaging	Het
Slc18b1	A	G	10: 23,702,557 (GRCm39)	*460W	probably null	Het
Slco6c1	T	A	1: 96,993,748 (GRCm39)		probably benign	Het
Slu7	T	A	11: 43,333,457 (GRCm39)	V359D	possibly damaging	Het
Suco	T	C	1: 161,662,049 (GRCm39)	Y794C	possibly damaging	Het
Sult3a2	T	C	10: 33,655,769 (GRCm39)	N70S	probably benign	Het
Taar2	A	T	10: 23,817,195 (GRCm39)	D245V	probably damaging	Het
Taf1d	A	G	9: 15,221,237 (GRCm39)	H181R	possibly damaging	Het
Tmem33	T	C	5: 67,421,139 (GRCm39)	S38P	probably damaging	Het
Traf3ip1	T	C	1: 91,450,609 (GRCm39)	S519P	probably benign	Het
Ttc12	T	C	9: 49,369,362 (GRCm39)	K253E	possibly damaging	Het

Other mutations in Ccdc17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01661:Ccdc17	APN	4	116,455,063 (GRCm39)	missense	probably benign
IGL03169:Ccdc17	APN	4	116,454,957 (GRCm39)	missense	probably damaging	1.00
IGL03288:Ccdc17	APN	4	116,456,626 (GRCm39)	missense	probably damaging	1.00
dandy	UTSW	4	116,456,789 (GRCm39)	missense	probably damaging	1.00
Dondi	UTSW	4	116,455,745 (GRCm39)	missense	probably damaging	1.00
G5030:Ccdc17	UTSW	4	116,455,699 (GRCm39)	missense	probably benign	0.42
R0628:Ccdc17	UTSW	4	116,455,745 (GRCm39)	missense	probably damaging	1.00
R1033:Ccdc17	UTSW	4	116,454,077 (GRCm39)	nonsense	probably null
R2041:Ccdc17	UTSW	4	116,456,789 (GRCm39)	missense	probably damaging	1.00
R3107:Ccdc17	UTSW	4	116,455,464 (GRCm39)	missense	probably benign	0.02
R3122:Ccdc17	UTSW	4	116,456,749 (GRCm39)	unclassified	probably benign
R4498:Ccdc17	UTSW	4	116,454,438 (GRCm39)	unclassified	probably benign
R5705:Ccdc17	UTSW	4	116,454,066 (GRCm39)	missense	probably benign	0.10
R6052:Ccdc17	UTSW	4	116,457,145 (GRCm39)	splice site	probably null
R6083:Ccdc17	UTSW	4	116,454,123 (GRCm39)	missense	possibly damaging	0.89
R6925:Ccdc17	UTSW	4	116,455,407 (GRCm39)	missense	probably damaging	1.00
R7677:Ccdc17	UTSW	4	116,454,962 (GRCm39)	critical splice donor site	probably null
R7847:Ccdc17	UTSW	4	116,457,103 (GRCm39)	missense	probably benign	0.34
R8195:Ccdc17	UTSW	4	116,456,213 (GRCm39)	missense	probably damaging	0.99
R8195:Ccdc17	UTSW	4	116,456,211 (GRCm39)	missense	possibly damaging	0.75
R8428:Ccdc17	UTSW	4	116,456,823 (GRCm39)	missense	probably damaging	1.00
R8750:Ccdc17	UTSW	4	116,457,129 (GRCm39)	missense	possibly damaging	0.93
R9296:Ccdc17	UTSW	4	116,456,586 (GRCm39)	missense	probably damaging	1.00
R9483:Ccdc17	UTSW	4	116,454,144 (GRCm39)	missense	probably benign	0.42
R9526:Ccdc17	UTSW	4	116,455,994 (GRCm39)	missense	possibly damaging	0.69
R9589:Ccdc17	UTSW	4	116,454,791 (GRCm39)	missense	probably benign	0.25
R9715:Ccdc17	UTSW	4	116,455,090 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02