Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01905:Ccdc116'

179653

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ccdc116

Ensembl Gene

ENSMUSG00000022768

Gene Name

coiled-coil domain containing 116

Synonyms

4930432J16Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01905

Quality Score

Status

Chromosome

Chromosomal Location

16956928-16965093 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 16960425 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 131 (V131L)

Ref Sequence

ENSEMBL: ENSMUSP00000156301 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023452] [ENSMUST00000069064] [ENSMUST00000115709] [ENSMUST00000115711] [ENSMUST00000232033] [ENSMUST00000232540] [ENSMUST00000231597] [ENSMUST00000231493] [ENSMUST00000231726] [ENSMUST00000231708] [ENSMUST00000232479] [ENSMUST00000232344]

AlphaFold

Q80X53

Predicted Effect

probably benign
Transcript: ENSMUST00000023452
AA Change: V131L

PolyPhen 2 Score 0.145 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000023452
Gene: ENSMUSG00000022768
AA Change: V131L

Domain	Start	End	E-Value	Type
low complexity region	116	127	N/A	INTRINSIC
low complexity region	150	161	N/A	INTRINSIC
low complexity region	190	206	N/A	INTRINSIC
low complexity region	488	503	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000069064

SMART Domains

Protein: ENSMUSP00000069864
Gene: ENSMUSG00000041774

Domain	Start	End	E-Value	Type
Pfam:YdjC	7	288	1.3e-68	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000115709
AA Change: V131L

PolyPhen 2 Score 0.145 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000111374
Gene: ENSMUSG00000022768
AA Change: V131L

Domain	Start	End	E-Value	Type
low complexity region	116	127	N/A	INTRINSIC
low complexity region	150	161	N/A	INTRINSIC
low complexity region	190	206	N/A	INTRINSIC
low complexity region	488	503	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000115711
AA Change: V131L

PolyPhen 2 Score 0.145 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000111376
Gene: ENSMUSG00000022768
AA Change: V131L

Domain	Start	End	E-Value	Type
Pfam:DUF4702	18	411	6.3e-223	PFAM
low complexity region	488	503	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137267

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142576

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143317

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145792

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145198

Predicted Effect

probably benign
Transcript: ENSMUST00000232033
AA Change: V131L

PolyPhen 2 Score 0.145 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

probably damaging
Transcript: ENSMUST00000232540
AA Change: V131L

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231970

Predicted Effect

probably benign
Transcript: ENSMUST00000231597

Predicted Effect

probably benign
Transcript: ENSMUST00000231493

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231539

Predicted Effect

probably benign
Transcript: ENSMUST00000231726

Predicted Effect

probably benign
Transcript: ENSMUST00000231708

Predicted Effect

probably benign
Transcript: ENSMUST00000232479

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231502

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231975

Predicted Effect

probably benign
Transcript: ENSMUST00000232344

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	A	T	10: 78,903,582 (GRCm39)	C245S	probably damaging	Het
Apol10b	A	G	15: 77,469,559 (GRCm39)	I206T	possibly damaging	Het
Bax	A	T	7: 45,115,542 (GRCm39)	I31N	probably damaging	Het
Ces2b	C	A	8: 105,560,594 (GRCm39)	N136K	probably damaging	Het
Csnk1d	A	T	11: 120,864,789 (GRCm39)	I65N	probably damaging	Het
Fam167b	A	G	4: 129,470,892 (GRCm39)	M152T	probably damaging	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
Gm5862	A	C	5: 26,227,769 (GRCm39)	W41G	probably benign	Het
Heatr6	C	T	11: 83,672,538 (GRCm39)	S1182L	probably benign	Het
Lpcat4	T	C	2: 112,073,388 (GRCm39)		probably null	Het
Myh8	T	C	11: 67,175,477 (GRCm39)	Y311H	possibly damaging	Het
Naaladl1	G	A	19: 6,165,577 (GRCm39)	D744N	possibly damaging	Het
Pik3r4	C	A	9: 105,522,077 (GRCm39)	Y214*	probably null	Het
Proca1	A	G	11: 78,095,716 (GRCm39)	H29R	probably damaging	Het
Prrc2c	T	C	1: 162,532,898 (GRCm39)		probably benign	Het
Rcor3	G	A	1: 191,785,302 (GRCm39)	P489S	probably damaging	Het
Rela	A	T	19: 5,695,592 (GRCm39)	N337I	probably benign	Het
Rnf123	C	T	9: 107,948,569 (GRCm39)		probably benign	Het
Septin9	T	A	11: 117,109,715 (GRCm39)	S12T	probably benign	Het
Serpina1c	A	T	12: 103,863,318 (GRCm39)	L294Q	possibly damaging	Het
Slc12a5	A	G	2: 164,832,301 (GRCm39)	D740G	probably benign	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Zfp473	T	C	7: 44,383,151 (GRCm39)	K394R	probably benign	Het
Zkscan7	C	T	9: 122,719,826 (GRCm39)	P171S	possibly damaging	Het
Zmynd19	T	A	2: 24,841,541 (GRCm39)	F36L	probably benign	Het

Other mutations in Ccdc116

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01082:Ccdc116	APN	16	16,959,856 (GRCm39)	missense	probably damaging	1.00
IGL02751:Ccdc116	APN	16	16,959,836 (GRCm39)	missense	probably benign	0.00
IGL03183:Ccdc116	APN	16	16,960,718 (GRCm39)	missense	probably benign	0.07
R0009:Ccdc116	UTSW	16	16,961,903 (GRCm39)	missense	probably damaging	1.00
R0009:Ccdc116	UTSW	16	16,961,903 (GRCm39)	missense	probably damaging	1.00
R0122:Ccdc116	UTSW	16	16,960,598 (GRCm39)	missense	probably damaging	1.00
R0219:Ccdc116	UTSW	16	16,959,476 (GRCm39)	missense	possibly damaging	0.93
R1664:Ccdc116	UTSW	16	16,960,492 (GRCm39)	missense	probably benign	0.02
R1718:Ccdc116	UTSW	16	16,959,772 (GRCm39)	missense	probably benign
R2921:Ccdc116	UTSW	16	16,960,307 (GRCm39)	missense	probably benign	0.02
R2922:Ccdc116	UTSW	16	16,960,307 (GRCm39)	missense	probably benign	0.02
R2923:Ccdc116	UTSW	16	16,960,307 (GRCm39)	missense	probably benign	0.02
R4119:Ccdc116	UTSW	16	16,960,051 (GRCm39)	missense	probably damaging	1.00
R4223:Ccdc116	UTSW	16	16,964,809 (GRCm39)	unclassified	probably benign
R5000:Ccdc116	UTSW	16	16,959,657 (GRCm39)	missense	possibly damaging	0.95
R5293:Ccdc116	UTSW	16	16,959,651 (GRCm39)	missense	possibly damaging	0.92
R5435:Ccdc116	UTSW	16	16,960,626 (GRCm39)	missense	probably benign	0.38
R6694:Ccdc116	UTSW	16	16,960,655 (GRCm39)	missense	probably benign	0.44
R7215:Ccdc116	UTSW	16	16,957,792 (GRCm39)	missense	probably damaging	1.00
R7247:Ccdc116	UTSW	16	16,957,555 (GRCm39)	missense	possibly damaging	0.89
R7771:Ccdc116	UTSW	16	16,957,455 (GRCm39)	missense	probably benign	0.00
R9591:Ccdc116	UTSW	16	16,960,598 (GRCm39)	missense	probably damaging	1.00
Z1088:Ccdc116	UTSW	16	16,965,035 (GRCm39)	unclassified	probably benign

Posted On

2014-05-07