Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01455:Ccdc117'

84742

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ccdc117

Ensembl Gene

ENSMUSG00000020482

Gene Name

coiled-coil domain containing 117

Synonyms

1110004K02Rik, 1700026O03Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.301) question?

Stock #

IGL01455

Quality Score

Status

Chromosome

Chromosomal Location

5478887-5492187 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 5484297 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 181 (T181K)

Ref Sequence

ENSEMBL: ENSMUSP00000020776 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020776]

AlphaFold

Q6PB51

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020776
AA Change: T181K

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000020776
Gene: ENSMUSG00000020482
AA Change: T181K

Domain	Start	End	E-Value	Type
low complexity region	22	37	N/A	INTRINSIC
Pfam:CCDC117	139	277	1.9e-56	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl6	A	G	11: 54,214,131 (GRCm39)	D87G	possibly damaging	Het
Adgra3	G	A	5: 50,144,899 (GRCm39)	R565*	probably null	Het
Akap12	C	T	10: 4,306,886 (GRCm39)	T1232I	probably damaging	Het
Arb2a	A	T	13: 78,050,766 (GRCm39)		probably benign	Het
B3gnt2	A	T	11: 22,787,042 (GRCm39)	W49R	probably damaging	Het
Ccdc112	T	A	18: 46,426,511 (GRCm39)	K137N	possibly damaging	Het
Cfh	T	C	1: 140,033,277 (GRCm39)	K756E	possibly damaging	Het
Clca3a1	C	T	3: 144,713,539 (GRCm39)	M697I	probably benign	Het
Cyp2c29	T	A	19: 39,317,561 (GRCm39)	I349K	possibly damaging	Het
Dcaf15	T	C	8: 84,825,219 (GRCm39)	T434A	probably benign	Het
Entpd5	T	C	12: 84,441,451 (GRCm39)	I106V	probably benign	Het
Eps8l1	T	A	7: 4,481,922 (GRCm39)		probably benign	Het
Erbin	G	T	13: 103,995,895 (GRCm39)	P269Q	probably damaging	Het
Fbxw22	C	T	9: 109,214,062 (GRCm39)	M251I	probably benign	Het
Fgd4	T	A	16: 16,308,354 (GRCm39)	T9S	probably benign	Het
Haus8	T	C	8: 71,705,875 (GRCm39)	I270V	probably benign	Het
Herc4	T	A	10: 63,121,922 (GRCm39)		probably null	Het
Hspg2	G	A	4: 137,281,128 (GRCm39)	V3367M	probably damaging	Het
Htr1f	A	T	16: 64,746,385 (GRCm39)	F302L	probably damaging	Het
Inpp5f	T	C	7: 128,279,773 (GRCm39)	C458R	probably damaging	Het
Klhl18	T	C	9: 110,261,511 (GRCm39)	E411G	probably damaging	Het
Krt20	A	T	11: 99,322,769 (GRCm39)	F289I	probably benign	Het
Mical1	T	C	10: 41,355,065 (GRCm39)		probably null	Het
Nav1	T	C	1: 135,397,373 (GRCm39)	D932G	probably benign	Het
Nme4	A	T	17: 26,311,036 (GRCm39)	D176E	probably benign	Het
Nox4	C	T	7: 87,025,424 (GRCm39)	S517L	possibly damaging	Het
Or1j13	A	T	2: 36,369,368 (GRCm39)	L258H	probably damaging	Het
Pate8	T	A	9: 36,492,659 (GRCm39)	H82L	probably benign	Het
Pip5k1a	T	C	3: 94,975,471 (GRCm39)	D333G	probably benign	Het
Polb	T	C	8: 23,143,088 (GRCm39)	Y36C	probably damaging	Het
Spta1	T	C	1: 174,030,877 (GRCm39)	I953T	possibly damaging	Het
Sptb	A	T	12: 76,659,686 (GRCm39)	D1071E	probably damaging	Het
Stxbp3-ps	T	C	19: 9,535,371 (GRCm39)		noncoding transcript	Het
Tmcc3	A	T	10: 94,422,617 (GRCm39)	I356F	probably damaging	Het
Tmem262	G	T	19: 6,130,189 (GRCm39)	R6L	probably damaging	Het
Tnks	C	A	8: 35,408,054 (GRCm39)	V225L	probably damaging	Het

Other mutations in Ccdc117

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01160:Ccdc117	APN	11	5,481,532 (GRCm39)	missense	probably benign	0.32
IGL02167:Ccdc117	APN	11	5,481,333 (GRCm39)	missense	possibly damaging	0.85
R5029_Ccdc117_570	UTSW	11	5,484,897 (GRCm39)	missense	possibly damaging	0.53
D6062:Ccdc117	UTSW	11	5,475,039 (GRCm39)	unclassified	probably benign
R0645:Ccdc117	UTSW	11	5,484,385 (GRCm39)	splice site	probably benign
R2697:Ccdc117	UTSW	11	5,484,888 (GRCm39)	missense	possibly damaging	0.53
R5029:Ccdc117	UTSW	11	5,484,897 (GRCm39)	missense	possibly damaging	0.53
R6191:Ccdc117	UTSW	11	5,484,242 (GRCm39)	critical splice donor site	probably null
R6395:Ccdc117	UTSW	11	5,484,762 (GRCm39)	splice site	probably null
R6924:Ccdc117	UTSW	11	5,484,255 (GRCm39)	missense	probably benign	0.05
R7982:Ccdc117	UTSW	11	5,481,460 (GRCm39)	missense	possibly damaging	0.86
R8428:Ccdc117	UTSW	11	5,484,350 (GRCm39)	missense	possibly damaging	0.86
R8959:Ccdc117	UTSW	11	5,491,421 (GRCm39)	missense	possibly damaging	0.86
R9772:Ccdc117	UTSW	11	5,492,042 (GRCm39)	missense	possibly damaging	0.53

Posted On

2013-11-11