Mutagenetix > Incidental Mutation

Incidental Mutation 'R7982:Ccdc117'

651281

Institutional Source

Beutler Lab

Gene Symbol

Ccdc117

Ensembl Gene

ENSMUSG00000020482

Gene Name

coiled-coil domain containing 117

Synonyms

1110004K02Rik, 1700026O03Rik

MMRRC Submission

046023-MU

Accession Numbers

Essential gene?

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

Stock #

R7982 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

5478887-5492187 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 5481460 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 224 (S224P)

Ref Sequence

ENSEMBL: ENSMUSP00000020776 (fasta)

Gene Model

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

AlphaFold

Q6PB51

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020776
AA Change: S224P

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000020776
Gene: ENSMUSG00000020482
AA Change: S224P

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

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb6	A	G	1: 75,150,284 (GRCm39)	S625P	probably damaging	Het
Actl6b	A	G	5: 137,561,424 (GRCm39)	N142S	probably benign	Het
Ank1	A	T	8: 23,609,397 (GRCm39)	D1363V	probably damaging	Het
Aox4	A	C	1: 58,296,400 (GRCm39)	L1032F	possibly damaging	Het
Atosb	T	C	4: 43,034,483 (GRCm39)	T371A	probably damaging	Het
Bcl2l15	T	C	3: 103,740,158 (GRCm39)	M4T	probably damaging	Het
Cand1	A	T	10: 119,052,378 (GRCm39)	S242R	probably damaging	Het
Cant1	A	T	11: 118,300,968 (GRCm39)	V229D	probably benign	Het
Cdc42ep4	T	C	11: 113,619,402 (GRCm39)	R330G	possibly damaging	Het
Cep164	T	C	9: 45,690,162 (GRCm39)	E527G	probably benign	Het
Cfap58	A	G	19: 47,963,006 (GRCm39)	D472G	probably benign	Het
Cln6	A	C	9: 62,756,450 (GRCm39)	K198T	possibly damaging	Het
Col4a4	G	A	1: 82,549,162 (GRCm39)		probably benign	Het
Cyp1b1	T	C	17: 80,017,919 (GRCm39)	Y412C	probably damaging	Het
Dhx30	A	T	9: 109,914,524 (GRCm39)	L991Q	probably damaging	Het
Dst	C	T	1: 34,221,621 (GRCm39)	T2475I	possibly damaging	Het
Exoc8	A	T	8: 125,623,149 (GRCm39)	V406E	probably damaging	Het
Grk6	T	A	13: 55,599,519 (GRCm39)	C201S	probably damaging	Het
Helz	T	C	11: 107,517,456 (GRCm39)	V664A	possibly damaging	Het
Hsd17b11	A	G	5: 104,151,090 (GRCm39)	C215R	possibly damaging	Het
Ift25	T	C	4: 107,132,480 (GRCm39)	V89A	probably benign	Het
Kbtbd12	T	C	6: 88,595,616 (GRCm39)	I71M	possibly damaging	Het
Khdc1a	A	T	1: 21,421,130 (GRCm39)	H105L	probably benign	Het
Klf6	T	A	13: 5,911,822 (GRCm39)	L62Q	probably damaging	Het
Mc1r	A	G	8: 124,134,879 (GRCm39)	R211G	probably damaging	Het
Nt5m	T	A	11: 59,739,157 (GRCm39)	W68R	possibly damaging	Het
Nufip1	T	C	14: 76,363,679 (GRCm39)	V301A	probably benign	Het
Or10ac1	T	A	6: 42,515,225 (GRCm39)	T244S	probably damaging	Het
Or12d14-ps1	T	G	17: 37,673,502 (GRCm39)	F165V	probably damaging	Het
Or2b7	T	C	13: 21,740,136 (GRCm39)	N19D	probably benign	Het
Or51f5	A	T	7: 102,424,310 (GRCm39)	D193V	probably damaging	Het
Or5ac25	A	G	16: 59,181,927 (GRCm39)	I218T	probably benign	Het
Ostn	T	C	16: 27,140,189 (GRCm39)		probably null	Het
Pcdhb6	C	T	18: 37,467,273 (GRCm39)	R65*	probably null	Het
Pds5b	T	C	5: 150,693,406 (GRCm39)	I706T	probably damaging	Het
Pgm2	T	G	5: 64,258,302 (GRCm39)	Y96D	probably damaging	Het
Pkd1l2	G	A	8: 117,777,926 (GRCm39)	T875I	possibly damaging	Het
Poc1b	A	G	10: 99,000,764 (GRCm39)	S355G	probably benign	Het
Ppp6r1	A	C	7: 4,646,157 (GRCm39)	D181E	probably benign	Het
Pstpip2	G	A	18: 77,967,073 (GRCm39)	V325M	probably benign	Het
Rras2	A	T	7: 113,658,186 (GRCm39)	V92D	probably damaging	Het
Rsf1	CGGC	CGGCGGCGGGGGC	7: 97,229,139 (GRCm39)		probably benign	Het
Ryr3	GTCTTCTTCTTCTTCTTC	GTCTTCTTCTTCTTC	2: 112,499,594 (GRCm39)		probably benign	Het
Stac2	T	A	11: 97,933,379 (GRCm39)	M188L	probably benign	Het
Synrg	G	A	11: 83,910,644 (GRCm39)	D859N	probably damaging	Het
Tarbp1	A	T	8: 127,171,040 (GRCm39)	S987T	probably damaging	Het
Tbx20	C	A	9: 24,685,220 (GRCm39)		probably benign	Het
Trim30d	G	T	7: 104,121,817 (GRCm39)	N309K	possibly damaging	Het
Ttc16	C	T	2: 32,665,047 (GRCm39)		probably benign	Het
Ttc34	T	A	4: 154,945,875 (GRCm39)	I303N	possibly damaging	Het
Ubr4	T	C	4: 139,155,519 (GRCm39)		probably null	Het
Uros	A	T	7: 133,294,278 (GRCm39)	S168T	unknown	Het
Vmn2r6	C	T	3: 64,467,241 (GRCm39)	G86D	probably damaging	Het
Ybx2	C	T	11: 69,831,448 (GRCm39)	T295I	possibly damaging	Het
Zbed5	T	A	5: 129,929,321 (GRCm39)	C146S	possibly damaging	Het
Zcchc2	G	A	1: 105,958,901 (GRCm39)	C1124Y	probably damaging	Het
Zfp626	G	A	7: 27,510,175 (GRCm39)		probably null	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
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
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'- GTTAGAGCAGAACGGGTGTC -3'
(R):5'- CCAGCTCTTAACTGACTGAGGC -3'

Sequencing Primer
(F):5'- AACGGGTGTCTAGAGCTCCATC -3'
(R):5'- CTCTTAACTGACTGAGGCGTTGG -3'

Posted On

2020-09-15