Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01350:Ccdc70'

75318

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ccdc70

Ensembl Gene

ENSMUSG00000017049

Gene Name

coiled-coil domain containing 70

Synonyms

1700112P19Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

IGL01350

Quality Score

Status

Chromosome

Chromosomal Location

22459791-22464057 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 22463690 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 160 (L160P)

Ref Sequence

ENSEMBL: ENSMUSP00000069249 (fasta)

Gene Model

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

AlphaFold

Q9D9B0

Predicted Effect

probably damaging
Transcript: ENSMUST00000017193
AA Change: L160P

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

SMART Domains

Protein: ENSMUSP00000017193
Gene: ENSMUSG00000017049
AA Change: L160P

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: L160P

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

SMART Domains

Protein: ENSMUSP00000069249
Gene: ENSMUSG00000017049
AA Change: L160P

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	A	G	16: 20,187,208 (GRCm39)	I926T	probably benign	Het
Adam39	T	A	8: 41,278,876 (GRCm39)	C422*	probably null	Het
Aldh1l1	A	G	6: 90,536,338 (GRCm39)	N81S	probably damaging	Het
Amd1	A	T	10: 40,166,186 (GRCm39)	Y264*	probably null	Het
Axl	T	C	7: 25,458,175 (GRCm39)	Y851C	probably damaging	Het
Cd2ap	A	T	17: 43,136,812 (GRCm39)	Y273*	probably null	Het
Cyb5rl	T	C	4: 106,941,409 (GRCm39)	V278A	possibly damaging	Het
Cyp2c29	T	C	19: 39,318,771 (GRCm39)	F417S	probably damaging	Het
Dnah7b	C	A	1: 46,120,592 (GRCm39)		probably benign	Het
Epha4	A	T	1: 77,483,492 (GRCm39)	D172E	probably damaging	Het
Eya4	T	A	10: 22,989,873 (GRCm39)	I495F	possibly damaging	Het
Gpr150	A	T	13: 76,204,542 (GRCm39)	H134Q	probably benign	Het
Gpr153	T	G	4: 152,366,423 (GRCm39)		probably benign	Het
Hipk2	A	G	6: 38,795,250 (GRCm39)	Y333H	probably damaging	Het
Jakmip1	T	C	5: 37,242,775 (GRCm39)	M21T	probably benign	Het
Kcnh3	A	T	15: 99,139,873 (GRCm39)	I920F	probably benign	Het
Lrp2	G	A	2: 69,341,328 (GRCm39)	R951C	probably damaging	Het
Msi1	A	G	5: 115,573,580 (GRCm39)	K126R	possibly damaging	Het
Nkx2-6	T	A	14: 69,412,222 (GRCm39)	F130Y	probably damaging	Het
Onecut2	T	A	18: 64,474,160 (GRCm39)	L218Q	probably damaging	Het
Or12j4	G	T	7: 140,046,292 (GRCm39)	M59I	probably damaging	Het
Or5p6	T	C	7: 107,630,887 (GRCm39)	Y221C	probably damaging	Het
Or8j3	A	G	2: 86,028,149 (GRCm39)	*316Q	probably null	Het
Pah	T	A	10: 87,414,221 (GRCm39)		probably benign	Het
Per2	C	T	1: 91,358,583 (GRCm39)	E602K	probably damaging	Het
Plb1	C	T	5: 32,474,408 (GRCm39)	T623M	probably damaging	Het
Prkaa2	T	C	4: 104,909,109 (GRCm39)		probably null	Het
Prl7b1	T	A	13: 27,786,804 (GRCm39)	T142S	probably damaging	Het
Psd3	T	C	8: 68,173,544 (GRCm39)	H1090R	probably damaging	Het
Siglecf	G	T	7: 43,005,319 (GRCm39)		probably benign	Het
Tas2r118	A	G	6: 23,969,746 (GRCm39)	V105A	probably damaging	Het
Thnsl1	T	C	2: 21,217,011 (GRCm39)	V255A	probably benign	Het
Tmprss5	T	A	9: 49,020,757 (GRCm39)	*84K	probably null	Het
Trrap	C	T	5: 144,767,779 (GRCm39)	L2579F	possibly damaging	Het
Vdac1	A	G	11: 52,276,489 (GRCm39)	T211A	probably benign	Het
Vmn1r16	A	T	6: 57,299,716 (GRCm39)	V302D	possibly damaging	Het
Wdr75	T	A	1: 45,857,420 (GRCm39)	C572*	probably null	Het
Xpc	A	G	6: 91,476,993 (GRCm39)	S369P	probably benign	Het
Zdhhc20	A	G	14: 58,111,444 (GRCm39)	V52A	probably benign	Het
Zfp977	T	C	7: 42,230,090 (GRCm39)	Y145C	probably damaging	Het

Other mutations in Ccdc70

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01532:Ccdc70	APN	8	22,463,299 (GRCm39)	missense	probably damaging	1.00
IGL01551:Ccdc70	APN	8	22,463,611 (GRCm39)	missense	possibly damaging	0.90
R0718:Ccdc70	UTSW	8	22,463,324 (GRCm39)	missense	probably damaging	1.00
R2360:Ccdc70	UTSW	8	22,463,447 (GRCm39)	missense	probably damaging	0.99
R4301:Ccdc70	UTSW	8	22,463,228 (GRCm39)	missense	possibly damaging	0.67
R4999:Ccdc70	UTSW	8	22,463,266 (GRCm39)	missense	possibly damaging	0.89
R6773:Ccdc70	UTSW	8	22,463,321 (GRCm39)	missense	probably damaging	0.99
R9666:Ccdc70	UTSW	8	22,463,357 (GRCm39)	missense	possibly damaging	0.87

Posted On

2013-10-07