Mutagenetix > Incidental Mutation

Incidental Mutation 'R6615:Ccdc113'

523959

Institutional Source

Beutler Lab

Gene Symbol

Ccdc113

Ensembl Gene

ENSMUSG00000036598

Gene Name

coiled-coil domain containing 113

Synonyms

MMRRC Submission

044738-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R6615 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

96260713-96285518 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 96272620 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 242 (E242D)

Ref Sequence

ENSEMBL: ENSMUSP00000049497 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041569]

AlphaFold

Q8C5T8

Predicted Effect

probably benign
Transcript: ENSMUST00000041569
AA Change: E242D

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000049497
Gene: ENSMUSG00000036598
AA Change: E242D

Domain	Start	End	E-Value	Type
coiled coil region	95	139	N/A	INTRINSIC
Pfam:DUF4201	178	354	6.2e-52	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.4%

Validation Efficiency

100% (51/51)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Avl9	T	C	6: 56,730,870 (GRCm39)	V598A	probably benign	Het
Bcar3	T	A	3: 122,220,282 (GRCm39)	S60T	probably benign	Het
Bean1	CT	C	8: 104,908,664 (GRCm39)		probably null	Homo
Calm3	A	G	7: 16,651,508 (GRCm39)		probably null	Het
Celsr1	C	T	15: 85,786,315 (GRCm39)		probably null	Het
Clhc1	T	A	11: 29,528,149 (GRCm39)	M559K	possibly damaging	Het
Dhx36	T	A	3: 62,396,338 (GRCm39)	I440L	probably benign	Het
Dnah7c	A	T	1: 46,554,599 (GRCm39)	T445S	probably benign	Het
Dnah7c	A	G	1: 46,688,511 (GRCm39)	S1894G	probably benign	Het
Dnah7c	C	A	1: 46,688,500 (GRCm39)	T1890K	probably benign	Het
Dsc2	T	A	18: 20,165,576 (GRCm39)	H843L	possibly damaging	Het
F11	T	C	8: 45,701,811 (GRCm39)	Y333C	probably benign	Het
Fbxo41	T	C	6: 85,455,505 (GRCm39)	T560A	possibly damaging	Het
Fbxo7	A	T	10: 85,880,398 (GRCm39)	H282L	possibly damaging	Het
Gmnc	T	G	16: 26,779,278 (GRCm39)	D243A	probably benign	Het
Hdac5	C	A	11: 102,087,882 (GRCm39)		probably null	Het
Krt87	A	G	15: 101,334,443 (GRCm39)	V188A	probably benign	Het
Lpxn	G	A	19: 12,802,163 (GRCm39)	V163M	probably benign	Het
Lrrk1	A	T	7: 65,931,396 (GRCm39)	L55Q	probably damaging	Het
Ltbp2	C	T	12: 84,860,091 (GRCm39)	C621Y	probably damaging	Het
Marchf8	A	G	6: 116,382,624 (GRCm39)	E147G	probably damaging	Het
Muc16	T	G	9: 18,558,484 (GRCm39)	H2603P	unknown	Het
Nipa1	T	A	7: 55,629,571 (GRCm39)	N181Y	probably damaging	Het
Nt5el	T	A	13: 105,248,993 (GRCm39)	N402K	probably damaging	Het
Or14c45	A	G	7: 86,176,120 (GRCm39)	T52A	probably benign	Het
Or2h2c	G	A	17: 37,422,494 (GRCm39)	P127S	probably damaging	Het
Or4k37	A	G	2: 111,159,457 (GRCm39)	D231G	probably benign	Het
Or51f23c-ps1	T	C	7: 102,430,994 (GRCm39)	F104L	probably damaging	Het
Or7g35	A	G	9: 19,496,285 (GRCm39)	I151V	probably benign	Het
Pcf11	T	A	7: 92,307,090 (GRCm39)	Q1026L	probably damaging	Het
Ptch1	T	G	13: 63,687,644 (GRCm39)	K378T	possibly damaging	Het
Ptprm	C	T	17: 67,660,951 (GRCm39)		probably null	Het
Pxmp2	C	A	5: 110,425,573 (GRCm39)	W154L	possibly damaging	Het
Rdh7	T	G	10: 127,720,491 (GRCm39)	S294R	probably damaging	Het
Rexo1	C	T	10: 80,379,848 (GRCm39)	R994Q	possibly damaging	Het
Sacs	A	G	14: 61,446,383 (GRCm39)	T2810A	probably benign	Het
Serpina3c	A	T	12: 104,117,980 (GRCm39)	H119Q	possibly damaging	Het
Slc12a2	T	G	18: 58,031,200 (GRCm39)	I335R	probably damaging	Het
Slc25a13	C	T	6: 6,073,454 (GRCm39)	R468Q	probably damaging	Het
Slc5a6	C	T	5: 31,194,174 (GRCm39)	V628I	probably benign	Het
Srsf2	T	C	11: 116,743,905 (GRCm39)		probably null	Het
Sugp2	A	G	8: 70,695,420 (GRCm39)	Q131R	possibly damaging	Het
Syne1	T	C	10: 5,251,340 (GRCm39)	R2525G	probably damaging	Het
Tars3	T	C	7: 65,327,890 (GRCm39)	F533S	probably damaging	Het
Tmem8b	G	T	4: 43,682,249 (GRCm39)	G82W	probably damaging	Het
Unc13c	A	G	9: 73,837,890 (GRCm39)	I987T	possibly damaging	Het
Usp44	T	C	10: 93,682,351 (GRCm39)	V267A	possibly damaging	Het
Wac	C	A	18: 7,868,884 (GRCm39)		probably null	Het
Xkr5	T	C	8: 18,983,569 (GRCm39)	I658V	probably benign	Het
Zbtb38	A	T	9: 96,568,707 (GRCm39)	Y792*	probably null	Het

Other mutations in Ccdc113

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01143:Ccdc113	APN	8	96,260,888 (GRCm39)	missense	probably damaging	0.99
IGL01432:Ccdc113	APN	8	96,264,885 (GRCm39)	splice site	probably benign
IGL01538:Ccdc113	APN	8	96,277,866 (GRCm39)	missense	probably benign	0.00
IGL01895:Ccdc113	APN	8	96,263,086 (GRCm39)	splice site	probably benign
R1219:Ccdc113	UTSW	8	96,264,895 (GRCm39)	splice site	probably benign
R1891:Ccdc113	UTSW	8	96,267,544 (GRCm39)	missense	probably damaging	0.99
R1960:Ccdc113	UTSW	8	96,267,459 (GRCm39)	missense	probably benign	0.00
R1961:Ccdc113	UTSW	8	96,267,459 (GRCm39)	missense	probably benign	0.00
R1972:Ccdc113	UTSW	8	96,264,874 (GRCm39)	missense	probably benign	0.06
R2069:Ccdc113	UTSW	8	96,283,924 (GRCm39)	missense	probably benign	0.05
R3807:Ccdc113	UTSW	8	96,269,281 (GRCm39)	missense	probably damaging	1.00
R4326:Ccdc113	UTSW	8	96,283,896 (GRCm39)	missense	probably benign
R5214:Ccdc113	UTSW	8	96,272,601 (GRCm39)	missense	possibly damaging	0.91
R5290:Ccdc113	UTSW	8	96,267,424 (GRCm39)	splice site	probably null
R6394:Ccdc113	UTSW	8	96,283,820 (GRCm39)	missense	probably benign	0.26
R7088:Ccdc113	UTSW	8	96,264,733 (GRCm39)	missense	probably benign	0.03
R7751:Ccdc113	UTSW	8	96,264,829 (GRCm39)	missense	possibly damaging	0.53
R8139:Ccdc113	UTSW	8	96,285,366 (GRCm39)	missense	possibly damaging	0.89
R8928:Ccdc113	UTSW	8	96,267,584 (GRCm39)	critical splice donor site	probably null
R9190:Ccdc113	UTSW	8	96,263,101 (GRCm39)	missense	probably damaging	1.00
R9210:Ccdc113	UTSW	8	96,283,874 (GRCm39)	missense	probably damaging	0.99
R9433:Ccdc113	UTSW	8	96,272,613 (GRCm39)	missense	possibly damaging	0.76
R9762:Ccdc113	UTSW	8	96,272,605 (GRCm39)	missense	probably benign	0.00
RF016:Ccdc113	UTSW	8	96,264,733 (GRCm39)	missense	probably benign	0.03
Z1176:Ccdc113	UTSW	8	96,264,847 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- ATCTCTGAGATCTCGCCAGG -3'
(R):5'- CAGACACATGTGTTCAAATGGGG -3'

Sequencing Primer
(F):5'- TTAAGCTTACGGTGGCC -3'
(R):5'- TGTTCAAATGGGGGAAGCTCC -3'

Posted On

2018-06-22