Mutagenetix > Incidental Mutation

Incidental Mutation 'R9772:Ccdc117'

733490

Institutional Source

Beutler Lab

Gene Symbol

Ccdc117

Ensembl Gene

ENSMUSG00000020482

Gene Name

coiled-coil domain containing 117

Synonyms

1110004K02Rik, 1700026O03Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9772 (G1)

Quality Score

157.009

Status

Not validated

Chromosome

Chromosomal Location

5478887-5492187 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 5492042 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 6 (R6Q)

Ref Sequence

ENSEMBL: ENSMUSP00000020776 (fasta)

Gene Model

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

AlphaFold

Q6PB51

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020776
AA Change: R6Q

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

SMART Domains

Protein: ENSMUSP00000020776
Gene: ENSMUSG00000020482
AA Change: R6Q

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: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl2	A	T	2: 26,985,666 (GRCm39)	I517F	probably benign	Het
Ankdd1a	A	G	9: 65,408,749 (GRCm39)	C506R	probably damaging	Het
Arid3c	T	C	4: 41,724,723 (GRCm39)	N371D	probably damaging	Het
Ccdc78	C	T	17: 26,005,665 (GRCm39)	R26*	probably null	Het
Clca4a	C	A	3: 144,676,422 (GRCm39)	W86L	probably damaging	Het
Clrn2	C	T	5: 45,611,369 (GRCm39)	Q73*	probably null	Het
Cpne6	A	G	14: 55,754,117 (GRCm39)	D478G	probably benign	Het
Cyp2c40	T	A	19: 39,792,348 (GRCm39)	I199L	probably benign	Het
Dna2	T	C	10: 62,786,522 (GRCm39)	V90A	probably benign	Het
Dydc1	A	G	14: 40,804,248 (GRCm39)	E90G	probably damaging	Het
Egf	A	T	3: 129,499,756 (GRCm39)	S795T	probably benign	Het
Gm13090	G	T	4: 151,175,565 (GRCm39)	A102S	unknown	Het
Hectd4	A	T	5: 121,448,744 (GRCm39)	Y364F	probably benign	Het
Iqgap3	C	A	3: 88,016,176 (GRCm39)	F986L	probably damaging	Het
Krt79	T	G	15: 101,839,196 (GRCm39)	E424D	probably benign	Het
Ltf	T	C	9: 110,869,425 (GRCm39)	S87P	unknown	Het
Mesp2	A	G	7: 79,461,348 (GRCm39)	I224M	possibly damaging	Het
Mettl25	T	C	10: 105,633,127 (GRCm39)	R439G	probably benign	Het
Mettl27	C	T	5: 134,962,390 (GRCm39)	R63W	possibly damaging	Het
Nap1l1	C	T	10: 111,325,911 (GRCm39)	R77*	probably null	Het
Niban2	T	C	2: 32,795,868 (GRCm39)	I48T	probably damaging	Het
Notch4	G	T	17: 34,792,883 (GRCm39)		probably null	Het
Npepps	A	G	11: 97,113,983 (GRCm39)	I631T	probably benign	Het
Or4c105	G	A	2: 88,647,958 (GRCm39)	V148I	probably benign	Het
Or8b51	A	T	9: 38,568,964 (GRCm39)	C241*	probably null	Het
Pacsin3	T	A	2: 91,093,138 (GRCm39)	L210Q	probably damaging	Het
Ppp2r1a	A	T	17: 21,181,855 (GRCm39)	I458F	probably damaging	Het
Ryr2	T	C	13: 11,609,785 (GRCm39)	E4347G	probably benign	Het
Ryr3	A	G	2: 112,657,048 (GRCm39)	I1911T	probably damaging	Het
Sec16a	A	G	2: 26,329,417 (GRCm39)	I866T	possibly damaging	Het
Sfr1	G	T	19: 47,722,019 (GRCm39)	C145F	probably benign	Het
Slc35f4	A	T	14: 49,551,175 (GRCm39)	Y230N	probably damaging	Het
Slx4	A	G	16: 3,818,849 (GRCm39)	V89A		Het
Son	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,457,222 (GRCm39)		probably benign	Het
Tbc1d23	A	G	16: 56,990,765 (GRCm39)	I671T	probably damaging	Het
Trub1	G	A	19: 57,472,075 (GRCm39)	V184I	probably benign	Het
Usp10	CAA	CAAA	8: 120,658,620 (GRCm39)		probably null	Het
Vit	A	C	17: 78,932,398 (GRCm39)	T502P	probably damaging	Het
Vmn2r15	C	T	5: 109,434,923 (GRCm39)	G594R	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
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

Predicted Primers

PCR Primer
(F):5'- ATTCAAAGTTGTCCCGGCCG -3'
(R):5'- AACAAATCCCGACGTGTCTC -3'

Sequencing Primer
(F):5'- CCGGGACTCACGGTTAAC -3'
(R):5'- ACGTGTCTCTGGGCGGTC -3'

Posted On

2022-11-14