Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01532:Ccdc70'

89804

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ccdc70

Ensembl Gene

ENSMUSG00000017049

Gene Name

coiled-coil domain containing 70

Synonyms

Accession Numbers

Is this an essential gene?

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

Stock #

IGL01532

Quality Score

Status

Chromosome

Chromosomal Location

21969775-21974041 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 21973283 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Valine at position 30 (L30V)

Ref Sequence

ENSEMBL: ENSMUSP00000069249 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017193] [ENSMUST00000070649]

Predicted Effect

probably damaging
Transcript: ENSMUST00000017193
AA Change: L30V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000017193
Gene: ENSMUSG00000017049
AA Change: L30V

Domain	Start	End	E-Value	Type
low complexity region	75	98	N/A	INTRINSIC
low complexity region	155	171	N/A	INTRINSIC
low complexity region	173	188	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000070649
AA Change: L30V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000069249
Gene: ENSMUSG00000017049
AA Change: L30V

Domain	Start	End	E-Value	Type
low complexity region	75	98	N/A	INTRINSIC
low complexity region	155	171	N/A	INTRINSIC
low complexity region	173	188	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts17	C	A	7: 66,908,601	N264K	probably damaging	Het
Adgrl3	C	T	5: 81,694,569	T260I	probably damaging	Het
Ambra1	G	T	2: 91,885,632	K769N	probably damaging	Het
Arel1	A	G	12: 84,934,162	V357A	possibly damaging	Het
Atp11b	T	A	3: 35,849,502	C76*	probably null	Het
AW112010	C	A	19: 11,048,069		noncoding transcript	Het
Bfar	A	T	16: 13,687,387		probably benign	Het
Chrm5	C	T	2: 112,479,232	R513Q	probably benign	Het
Crem	G	A	18: 3,276,732	T7I	probably benign	Het
Cyp4f39	C	T	17: 32,470,954		probably benign	Het
Dlg5	T	C	14: 24,158,592	T849A	probably benign	Het
Dock8	G	T	19: 25,169,441	G1428V	probably damaging	Het
Eomes	T	C	9: 118,482,249	I380T	probably damaging	Het
Fam13a	T	C	6: 58,940,295	D532G	probably damaging	Het
Fopnl	A	G	16: 14,304,511	S130P	probably benign	Het
Gm10061	G	T	16: 89,151,302	*55L	probably null	Het
Gm27438	T	G	2: 87,252,925		probably benign	Het
Gpalpp1	T	C	14: 76,102,502	K124E	probably benign	Het
Hgs	T	A	11: 120,477,509		probably null	Het
Hpn	T	A	7: 31,103,513	M121L	possibly damaging	Het
Il1r1	T	C	1: 40,294,928		probably null	Het
Jag2	A	T	12: 112,914,363	C583S	probably damaging	Het
Katnal2	T	C	18: 77,012,000	H146R	probably benign	Het
Ldah	T	C	12: 8,220,596		probably benign	Het
Lvrn	T	A	18: 46,900,484	Y921N	probably damaging	Het
Muc5b	A	G	7: 141,870,006	Y4572C	possibly damaging	Het
Myo16	A	G	8: 10,400,551	S518G	probably benign	Het
Ncf1	T	C	5: 134,226,593	N148S	probably benign	Het
Nes	T	G	3: 87,978,347	D1260E	possibly damaging	Het
Nup210	C	A	6: 91,085,999		probably benign	Het
Olfr548-ps1	T	C	7: 102,542,656	L240P	probably damaging	Het
Rnf31	C	A	14: 55,602,623	Q968K	probably damaging	Het
Ros1	A	G	10: 52,090,938		probably benign	Het
Ryk	T	C	9: 102,897,266	Y400H	probably benign	Het
Slc4a5	T	A	6: 83,273,040		probably null	Het
Sptssb	A	G	3: 69,820,869		probably benign	Het
Sstr5	T	C	17: 25,491,331	D308G	probably damaging	Het
Taf2	A	G	15: 55,049,486	W493R	possibly damaging	Het
Vmn2r28	T	A	7: 5,486,464	I459L	probably benign	Het
Vti1b	A	C	12: 79,165,138	L1W	probably null	Het
Wdr1	T	C	5: 38,535,187	Y125C	probably damaging	Het

Other mutations in Ccdc70

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01350:Ccdc70	APN	8	21973674	missense	probably damaging	1.00
IGL01551:Ccdc70	APN	8	21973595	missense	possibly damaging	0.90
R0718:Ccdc70	UTSW	8	21973308	missense	probably damaging	1.00
R2360:Ccdc70	UTSW	8	21973431	missense	probably damaging	0.99
R4301:Ccdc70	UTSW	8	21973212	missense	possibly damaging	0.67
R4999:Ccdc70	UTSW	8	21973250	missense	possibly damaging	0.89
R6773:Ccdc70	UTSW	8	21973305	missense	probably damaging	0.99

Posted On

2013-12-03