Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01661:Ccdc17'

103164

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 #

IGL01661

Quality Score

Status

Chromosome

Chromosomal Location

116453927-116457463 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 116455063 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 206 (H206R)

Ref Sequence

ENSEMBL: ENSMUSP00000059848 (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 benign
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 benign
Transcript: ENSMUST00000051869
AA Change: H206R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000059848
Gene: ENSMUSG00000034035
AA Change: H206R

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 benign
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: ENSMUST00000142815

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130363

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146777

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148260

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151441

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155398

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: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	T	C	2: 25,333,007 (GRCm39)	F1569L	probably benign	Het
Acly	A	G	11: 100,405,168 (GRCm39)		probably benign	Het
Adgre5	T	A	8: 84,454,564 (GRCm39)	N313I	probably damaging	Het
Cenpo	C	T	12: 4,284,023 (GRCm39)		probably null	Het
Galnt5	G	T	2: 57,889,494 (GRCm39)	A365S	probably benign	Het
Josd1	G	A	15: 79,561,328 (GRCm39)	P160L	probably damaging	Het
Lamc1	C	A	1: 153,097,319 (GRCm39)	R1575L	possibly damaging	Het
Mrpl32	C	T	13: 14,785,178 (GRCm39)	V153I	probably benign	Het
Mtor	A	G	4: 148,599,308 (GRCm39)	K1452R	possibly damaging	Het
Nob1	T	C	8: 108,139,814 (GRCm39)	Y315C	probably damaging	Het
Or4c58	T	A	2: 89,674,439 (GRCm39)	M293L	probably benign	Het
Or8k28	T	C	2: 86,285,846 (GRCm39)	I256M	possibly damaging	Het
Prex2	A	G	1: 11,278,838 (GRCm39)	N1389S	probably benign	Het
Ptprd	G	A	4: 75,872,320 (GRCm39)	T1383M	probably damaging	Het
Ralbp1	A	G	17: 66,168,384 (GRCm39)	L307P	probably damaging	Het
Sema4f	A	G	6: 82,895,036 (GRCm39)		probably benign	Het
Slc2a3	A	G	6: 122,706,915 (GRCm39)	V486A	probably benign	Het
Spock2	T	A	10: 59,959,692 (GRCm39)	H140Q	probably damaging	Het
Tmc4	A	G	7: 3,669,926 (GRCm39)	I610T	probably damaging	Het
Tnc	T	C	4: 63,888,544 (GRCm39)		probably benign	Het
Ttll8	T	C	15: 88,820,202 (GRCm39)		probably benign	Het

Other mutations in Ccdc17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03106:Ccdc17	APN	4	116,454,033 (GRCm39)	splice site	probably null
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

2014-01-21