Mutagenetix > Incidental Mutation

Incidental Mutation 'R5029:Ccdc117'

391570

Institutional Source

Beutler Lab

Gene Symbol

Ccdc117

Ensembl Gene

ENSMUSG00000020482

Gene Name

coiled-coil domain containing 117

Synonyms

1110004K02Rik, 1700026O03Rik

MMRRC Submission

042620-MU

Accession Numbers

Essential gene?

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

Stock #

R5029 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

5478887-5492187 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 5484897 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 109 (H109R)

Ref Sequence

ENSEMBL: ENSMUSP00000020776 (fasta)

Gene Model

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

AlphaFold

Q6PB51

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020776
AA Change: H109R

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000020776
Gene: ENSMUSG00000020482
AA Change: H109R

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

Meta Mutation Damage Score

0.0667

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.1%

Validation Efficiency

97% (61/63)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actbl2	T	A	13: 111,392,127 (GRCm39)	M154K	probably benign	Het
Ank	T	C	15: 27,590,439 (GRCm39)	V341A	probably benign	Het
Bnip3	T	A	7: 138,499,848 (GRCm39)		probably benign	Het
C1galt1	A	G	6: 7,863,931 (GRCm39)	K4E	possibly damaging	Het
Cbs	T	A	17: 31,834,456 (GRCm39)	Q511L	possibly damaging	Het
Cdh4	T	A	2: 179,523,742 (GRCm39)	V440D	possibly damaging	Het
Cnot4	T	C	6: 35,054,962 (GRCm39)	N109S	probably damaging	Het
Dact2	A	T	17: 14,416,114 (GRCm39)	S695R	probably benign	Het
Defa21	A	T	8: 21,516,381 (GRCm39)	E75V	probably damaging	Het
Dimt1	A	G	13: 107,093,630 (GRCm39)	D274G	probably null	Het
Dstyk	G	T	1: 132,377,062 (GRCm39)	V223L	probably benign	Het
Dync1h1	T	A	12: 110,584,444 (GRCm39)	S616T	possibly damaging	Het
Fer1l6	A	T	15: 58,515,769 (GRCm39)	I1619F	probably benign	Het
Gm4744	T	A	6: 40,926,341 (GRCm39)	Y83F	probably null	Het
Gm4787	G	C	12: 81,424,604 (GRCm39)	T518S	probably benign	Het
Hpx	T	G	7: 105,240,971 (GRCm39)	Y434S	probably damaging	Het
Ints4	A	G	7: 97,158,981 (GRCm39)	D451G	probably benign	Het
Itgb4	A	T	11: 115,879,417 (GRCm39)		probably benign	Het
Jph1	T	A	1: 17,161,615 (GRCm39)	N349I	possibly damaging	Het
Klrg1	A	G	6: 122,259,694 (GRCm39)	L26P	probably benign	Het
M1ap	A	C	6: 82,980,813 (GRCm39)	D233A	probably damaging	Het
Mfng	C	T	15: 78,648,588 (GRCm39)	R163H	probably benign	Het
Mycbp2	A	G	14: 103,393,946 (GRCm39)	S2762P	probably benign	Het
Myh11	T	A	16: 14,023,489 (GRCm39)	Q1556L	probably damaging	Het
N4bp2	A	G	5: 65,972,123 (GRCm39)	D1428G	probably damaging	Het
Ndc80	A	C	17: 71,815,760 (GRCm39)	C342G	probably benign	Het
Nxn	A	C	11: 76,165,356 (GRCm39)	Y199*	probably null	Het
Or6c206	T	A	10: 129,097,707 (GRCm39)	N292K	probably benign	Het
Or7c19	C	T	8: 85,957,835 (GRCm39)	A237V	probably benign	Het
Or8j3b	A	G	2: 86,205,234 (GRCm39)	I174T	probably damaging	Het
Pacs1	A	G	19: 5,192,299 (GRCm39)	F691L	probably benign	Het
Pcdhga12	T	C	18: 37,899,864 (GRCm39)	V232A	probably benign	Het
Pik3cb	A	T	9: 98,936,113 (GRCm39)	M773K	probably damaging	Het
Plxnb1	T	C	9: 108,943,723 (GRCm39)	Y1937H	probably damaging	Het
Ppfia2	C	A	10: 106,693,304 (GRCm39)	T603N	probably benign	Het
Psg22	A	G	7: 18,453,662 (GRCm39)	Y119C	probably damaging	Het
Saraf	G	T	8: 34,628,412 (GRCm39)	R86L	probably damaging	Het
Sh3bgrl2	T	C	9: 83,430,542 (GRCm39)	S11P	possibly damaging	Het
Slc39a4	C	T	15: 76,498,283 (GRCm39)	D385N	probably damaging	Het
St13	G	C	15: 81,283,786 (GRCm39)	R4G	probably benign	Het
Stpg3	T	C	2: 25,104,576 (GRCm39)	N13S	probably damaging	Het
Taf1a	T	A	1: 183,177,273 (GRCm39)	D50E	possibly damaging	Het
Tlr1	T	A	5: 65,083,024 (GRCm39)	N518Y	probably damaging	Het
Tnik	G	A	3: 28,719,993 (GRCm39)		probably null	Het
Tomm70a	T	A	16: 56,942,514 (GRCm39)	L97Q	probably benign	Het
Vmn2r97	T	A	17: 19,168,173 (GRCm39)	V809E	probably damaging	Het
Vps13d	T	C	4: 144,882,852 (GRCm39)	I914V	probably benign	Het
Zfyve26	A	T	12: 79,333,097 (GRCm39)	H291Q	probably damaging	Het
Zmynd15	G	T	11: 70,353,387 (GRCm39)	C334F	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
IGL01455:Ccdc117	APN	11	5,484,297 (GRCm39)	missense	possibly damaging	0.93
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
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

Predicted Primers

PCR Primer
(F):5'- ACCACTAAGTGTCTGTTGTTCATTC -3'
(R):5'- GCAGAACTCTGAATGAGGCCAG -3'

Sequencing Primer
(F):5'- ATCTCCAGCACCAGGACGTG -3'
(R):5'- GATACAGAGTGAGACTTTGTCCC -3'

Posted On

2016-06-06