Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01551:Ccdc70'

93268

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 #

IGL01551

Quality Score

Status

Chromosome

Chromosomal Location

22459791-22464057 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 22463611 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 134 (R134G)

Ref Sequence

ENSEMBL: ENSMUSP00000069249 (fasta)

Gene Model

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

AlphaFold

Q9D9B0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000017193
AA Change: R134G

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000017193
Gene: ENSMUSG00000017049
AA Change: R134G

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

possibly damaging
Transcript: ENSMUST00000070649
AA Change: R134G

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000069249
Gene: ENSMUSG00000017049
AA Change: R134G

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	G	A	10: 78,924,147 (GRCm39)	S103L	possibly damaging	Het
Acvr2a	G	A	2: 48,787,071 (GRCm39)	A389T	probably damaging	Het
Adamts9	A	G	6: 92,784,001 (GRCm39)	S1037P	probably damaging	Het
Adcyap1	A	G	17: 93,511,446 (GRCm39)	Y140C	probably damaging	Het
Ampd3	A	G	7: 110,404,183 (GRCm39)	N569S	probably damaging	Het
Bin1	G	T	18: 32,510,511 (GRCm39)	V18L	probably benign	Het
Ccdc158	A	G	5: 92,814,620 (GRCm39)	Y69H	probably damaging	Het
Cmtm2a	A	G	8: 105,019,286 (GRCm39)	V101A	probably damaging	Het
Edar	T	C	10: 58,441,860 (GRCm39)		probably benign	Het
Gcc2	T	C	10: 58,134,691 (GRCm39)		probably benign	Het
Gm10961	A	G	3: 107,540,281 (GRCm39)		probably benign	Het
Hsd3b3	T	C	3: 98,649,216 (GRCm39)	D369G	probably benign	Het
Ifi202b	T	A	1: 173,798,928 (GRCm39)	K373N	probably benign	Het
Khk	C	A	5: 31,082,189 (GRCm39)	H67N	probably benign	Het
Kif7	T	A	7: 79,360,314 (GRCm39)		probably null	Het
Mbd1	C	T	18: 74,402,614 (GRCm39)		probably benign	Het
Mtor	A	G	4: 148,556,494 (GRCm39)	H968R	probably damaging	Het
Nadk	A	G	4: 155,673,157 (GRCm39)		probably benign	Het
Or11g27	A	G	14: 50,771,618 (GRCm39)	T250A	probably benign	Het
Or2f1b	A	G	6: 42,739,046 (GRCm39)	D20G	probably damaging	Het
Or5d40	A	T	2: 88,015,629 (GRCm39)	H136L	probably benign	Het
Otol1	T	C	3: 69,935,057 (GRCm39)	F350L	probably damaging	Het
Pramel22	T	C	4: 143,383,042 (GRCm39)	N59S	probably damaging	Het
Prkcg	G	A	7: 3,352,342 (GRCm39)		probably benign	Het
Rps6kc1	A	T	1: 190,505,837 (GRCm39)	S1042T	possibly damaging	Het
Rtn1	C	T	12: 72,263,709 (GRCm39)	V741I	possibly damaging	Het
Tor2a	T	A	2: 32,650,595 (GRCm39)		probably benign	Het
Vmn1r177	T	C	7: 23,565,688 (GRCm39)	I63V	probably benign	Het
Vmn2r58	T	A	7: 41,514,703 (GRCm39)	I89F	probably damaging	Het
Xirp2	A	G	2: 67,343,849 (GRCm39)	D2030G	probably benign	Het
Zfp326	T	C	5: 106,036,451 (GRCm39)	S121P	probably damaging	Het

Other mutations in Ccdc70

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01350:Ccdc70	APN	8	22,463,690 (GRCm39)	missense	probably damaging	1.00
IGL01532:Ccdc70	APN	8	22,463,299 (GRCm39)	missense	probably damaging	1.00
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

2013-12-09