Mutagenetix > Incidental Mutation

Incidental Mutation 'R4326:Ccdc113'

324365

Institutional Source

Beutler Lab

Gene Symbol

Ccdc113

Ensembl Gene

ENSMUSG00000036598

Gene Name

coiled-coil domain containing 113

Synonyms

MMRRC Submission

041096-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R4326 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

96260713-96285518 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 96283896 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 323 (M323I)

Ref Sequence

ENSEMBL: ENSMUSP00000049497 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041569] [ENSMUST00000052690] [ENSMUST00000180075] [ENSMUST00000213096]

AlphaFold

Q8C5T8

Predicted Effect

probably benign
Transcript: ENSMUST00000041569
AA Change: M323I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000049497
Gene: ENSMUSG00000036598
AA Change: M323I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000052690

SMART Domains

Protein: ENSMUSP00000058859
Gene: ENSMUSG00000048400

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Tryp_SPc	28	253	1.88e-15	SMART
low complexity region	348	359	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000180075

SMART Domains

Protein: ENSMUSP00000137577
Gene: ENSMUSG00000048400

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Tryp_SPc	28	253	1.63e-15	SMART
low complexity region	348	359	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212067

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212513

Predicted Effect

probably benign
Transcript: ENSMUST00000213096

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.4%

Validation Efficiency

98% (57/58)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd3	A	G	3: 121,555,119 (GRCm39)	V616A	probably benign	Het
Abhd17a	A	G	10: 80,419,884 (GRCm39)	S241P	probably benign	Het
Adamts15	T	C	9: 30,815,814 (GRCm39)	S681G	probably benign	Het
Arap2	A	T	5: 62,779,206 (GRCm39)	H1461Q	possibly damaging	Het
Armc3	A	G	2: 19,305,284 (GRCm39)	K681E	probably damaging	Het
Arrdc5	T	C	17: 56,601,420 (GRCm39)	E235G	possibly damaging	Het
Atxn1	T	C	13: 46,119,443 (GRCm39)		probably benign	Het
C9orf72	T	A	4: 35,225,985 (GRCm39)		probably benign	Het
Capn13	C	A	17: 73,638,103 (GRCm39)	K433N	probably benign	Het
Cd55	A	T	1: 130,380,220 (GRCm39)	C253S	probably damaging	Het
Cyp2j8	T	A	4: 96,395,566 (GRCm39)	T20S	probably benign	Het
Dnah8	G	A	17: 30,971,066 (GRCm39)	V2707M	probably benign	Het
Erlec1	C	T	11: 30,899,972 (GRCm39)	E166K	probably benign	Het
Fastkd2	A	G	1: 63,791,516 (GRCm39)	K675E	probably benign	Het
Gid4	G	A	11: 60,308,662 (GRCm39)	V61M	possibly damaging	Het
Glt28d2	G	A	3: 85,779,393 (GRCm39)	Q27*	probably null	Het
Ipo8	A	T	6: 148,701,662 (GRCm39)		probably benign	Het
Isx	A	G	8: 75,600,284 (GRCm39)	I6V	probably benign	Het
Itsn1	A	G	16: 91,650,743 (GRCm39)		probably benign	Het
Klhl40	A	G	9: 121,607,956 (GRCm39)	D372G	probably benign	Het
Krt80	C	T	15: 101,250,189 (GRCm39)	V19M	possibly damaging	Het
Lingo2	T	A	4: 35,708,462 (GRCm39)	D506V	probably damaging	Het
Lmo7	A	T	14: 102,137,510 (GRCm39)	E504D	possibly damaging	Het
Lpcat4	G	A	2: 112,076,737 (GRCm39)	E454K	probably benign	Het
Macf1	C	T	4: 123,276,005 (GRCm39)	A4176T	probably damaging	Het
Noxo1	G	A	17: 24,917,937 (GRCm39)	R81H	probably benign	Het
Or10ab4	T	C	7: 107,654,362 (GRCm39)	Y58H	probably damaging	Het
Or7g34	T	A	9: 19,478,318 (GRCm39)	M121L	possibly damaging	Het
Pafah1b1	T	C	11: 74,573,066 (GRCm39)	T333A	probably benign	Het
Pak1ip1	A	G	13: 41,158,232 (GRCm39)	D35G	possibly damaging	Het
Pak3	T	C	X: 142,516,205 (GRCm39)		probably null	Het
Pcdhb9	A	T	18: 37,534,875 (GRCm39)	S290C	probably benign	Het
Pcdhb9	G	T	18: 37,534,876 (GRCm39)	S290I	probably benign	Het
Ppp2r2d	T	A	7: 138,470,214 (GRCm39)	V25D	probably damaging	Het
Prdm15	G	T	16: 97,607,715 (GRCm39)	N709K	probably damaging	Het
Ptprs	C	A	17: 56,754,468 (GRCm39)	A191S	possibly damaging	Het
Rrs1	G	T	1: 9,616,566 (GRCm39)	R273L	possibly damaging	Het
Sin3a	T	C	9: 57,002,642 (GRCm39)	L178P	probably damaging	Het
Slc13a1	A	G	6: 24,103,478 (GRCm39)	V355A	probably benign	Het
Spen	T	G	4: 141,204,683 (GRCm39)	N1315H	unknown	Het
Ssrp1	A	G	2: 84,870,561 (GRCm39)		probably benign	Het
St7	G	A	6: 17,819,287 (GRCm39)	V64M	probably damaging	Het
Syne2	C	A	12: 75,999,516 (GRCm39)	A2304E	probably damaging	Het
Tcf25	T	A	8: 124,127,882 (GRCm39)	L622*	probably null	Het
Tmem107	G	T	11: 68,962,301 (GRCm39)		probably null	Het
Tmem62	T	A	2: 120,810,991 (GRCm39)	N156K	probably damaging	Het
Wdr90	G	T	17: 26,072,705 (GRCm39)	R884S	probably benign	Het
Zfp184	T	C	13: 22,144,072 (GRCm39)	Y593H	probably damaging	Het
Zfp934	T	G	13: 62,665,373 (GRCm39)	N312H	probably benign	Het
Zfta	A	G	19: 7,398,591 (GRCm39)		probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- TGAGCCGGATGAAAACATCAC -3'
(R):5'- TCTGAAGAAAAGTGTTGGTGGC -3'

Sequencing Primer
(F):5'- ACCCCAGAGCCTTCAGAGG -3'
(R):5'- CCTGAGATACTTGGTGATCCCATG -3'

Posted On

2015-06-24