Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01143:Ccdc113'

51831

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ccdc113

Ensembl Gene

ENSMUSG00000036598

Gene Name

coiled-coil domain containing 113

Synonyms

Accession Numbers

Essential gene?

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

Stock #

IGL01143

Quality Score

Status

Chromosome

Chromosomal Location

96260713-96285518 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 96260888 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 30 (V30A)

Ref Sequence

ENSEMBL: ENSMUSP00000049497 (fasta)

Gene Model

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

AlphaFold

Q8C5T8

Predicted Effect

probably damaging
Transcript: ENSMUST00000041569
AA Change: V30A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000049497
Gene: ENSMUSG00000036598
AA Change: V30A

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb3	A	T	10: 85,490,335 (GRCm39)		probably benign	Het
Adgrl4	A	G	3: 151,205,866 (GRCm39)		probably null	Het
Adgrv1	A	C	13: 81,567,470 (GRCm39)	D5234E	probably benign	Het
Bmp7	G	T	2: 172,721,275 (GRCm39)	H267N	probably benign	Het
Ccdc185	A	T	1: 182,575,417 (GRCm39)	L424Q	probably damaging	Het
Cep192	T	A	18: 67,937,445 (GRCm39)	D58E	probably damaging	Het
Ces1f	C	T	8: 93,998,458 (GRCm39)		probably null	Het
Chaf1a	T	A	17: 56,370,336 (GRCm39)	D600E	possibly damaging	Het
Cndp2	A	G	18: 84,695,442 (GRCm39)		probably null	Het
Dnah11	T	A	12: 117,976,475 (GRCm39)	D2727V	probably damaging	Het
Dync1li2	T	C	8: 105,156,085 (GRCm39)	D252G	probably damaging	Het
Ephx2	C	T	14: 66,326,971 (GRCm39)	R408Q	probably damaging	Het
Fat1	C	A	8: 45,488,569 (GRCm39)	T3427K	possibly damaging	Het
Gal3st4	A	G	5: 138,269,664 (GRCm39)	M1T	probably null	Het
Gm5828	T	C	1: 16,840,172 (GRCm39)		noncoding transcript	Het
Gm7694	C	T	1: 170,130,394 (GRCm39)	M1I	probably null	Het
Gpatch1	A	G	7: 35,000,997 (GRCm39)		probably benign	Het
Grik1	G	T	16: 87,754,488 (GRCm39)		probably null	Het
Gtf2ird2	A	G	5: 134,225,394 (GRCm39)	T161A	possibly damaging	Het
Hk2	T	C	6: 82,706,533 (GRCm39)	I790V	possibly damaging	Het
Ints9	G	A	14: 65,274,870 (GRCm39)	V609I	probably benign	Het
Kcnq4	T	G	4: 120,555,820 (GRCm39)	D585A	probably damaging	Het
Large2	T	C	2: 92,196,684 (GRCm39)	Y464C	probably damaging	Het
Lpar6	G	A	14: 73,476,077 (GRCm39)	D13N	probably damaging	Het
Morn1	T	C	4: 155,176,761 (GRCm39)	Y132H	probably damaging	Het
Nphp1	C	T	2: 127,622,056 (GRCm39)	V24I	probably benign	Het
Or5b104	A	T	19: 13,072,476 (GRCm39)	F179I	probably damaging	Het
Or5w17	T	C	2: 87,584,278 (GRCm39)	N20D	probably benign	Het
Or8b1c	G	T	9: 38,384,338 (GRCm39)	M98I	possibly damaging	Het
Pcdhb13	T	C	18: 37,575,690 (GRCm39)	W23R	probably benign	Het
Plekhg3	T	C	12: 76,611,756 (GRCm39)		probably null	Het
Slx4	T	C	16: 3,808,752 (GRCm39)	K396R	probably benign	Het
Snx13	A	G	12: 35,182,159 (GRCm39)	D736G	probably damaging	Het
Spag17	A	G	3: 99,846,614 (GRCm39)	D46G	probably benign	Het
Spata31	T	G	13: 65,068,630 (GRCm39)	Y259*	probably null	Het
Synj1	T	C	16: 90,748,864 (GRCm39)	E1064G	probably damaging	Het
Tom1	A	G	8: 75,785,085 (GRCm39)	T81A	probably benign	Het
Ttc23l	A	G	15: 10,530,775 (GRCm39)	I279T	probably damaging	Het
Ttc39a	T	C	4: 109,300,010 (GRCm39)		probably null	Het
Vmn2r108	C	A	17: 20,682,727 (GRCm39)	A826S	possibly damaging	Het
Zyg11b	A	T	4: 108,102,191 (GRCm39)	V510E	possibly damaging	Het

Other mutations in Ccdc113

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R6615:Ccdc113	UTSW	8	96,272,620 (GRCm39)	missense	probably benign	0.03
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

Posted On

2013-06-21