Mutagenetix > Incidental Mutation

Incidental Mutation 'R6694:Ccdc116'

528513

Institutional Source

Beutler Lab

Gene Symbol

Ccdc116

Ensembl Gene

ENSMUSG00000022768

Gene Name

coiled-coil domain containing 116

Synonyms

MMRRC Submission

044812-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6694 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

17139064-17147229 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 17142791 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 54 (E54G)

Ref Sequence

ENSEMBL: ENSMUSP00000156301 (fasta)

Gene Model

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

AlphaFold

Q80X53

Predicted Effect

probably benign
Transcript: ENSMUST00000023452
AA Change: E54G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000023452
Gene: ENSMUSG00000022768
AA Change: E54G

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: E54G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000111374
Gene: ENSMUSG00000022768
AA Change: E54G

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: E54G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000111376
Gene: ENSMUSG00000022768
AA Change: E54G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000231493

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231502

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231539

Predicted Effect

probably benign
Transcript: ENSMUST00000231597
AA Change: E54G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000231708

Predicted Effect

probably benign
Transcript: ENSMUST00000231726

Predicted Effect

probably benign
Transcript: ENSMUST00000232033
AA Change: E54G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000232540
AA Change: E54G

PolyPhen 2 Score 0.435 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231975

Predicted Effect

probably benign
Transcript: ENSMUST00000232344

Predicted Effect

probably benign
Transcript: ENSMUST00000232479

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.7%

Validation Efficiency

95% (41/43)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600015I10Rik	G	A	6: 48,930,546	S160N	probably benign	Het
4930444G20Rik	T	C	10: 22,067,721	E120G	probably damaging	Het
Arap3	A	C	18: 37,991,537		probably null	Het
Arhgap10	A	G	8: 77,411,063	F300L	probably benign	Het
Cd53	T	A	3: 106,767,386	I122F	probably benign	Het
Ctnnd1	T	C	2: 84,624,505		probably benign	Het
Ddx60	A	G	8: 62,037,070	D1691G	probably damaging	Het
Dnah11	T	C	12: 118,186,882		probably null	Het
Exoc1	T	A	5: 76,549,552	M392K	probably damaging	Het
Exoc3l	G	C	8: 105,290,490	R622G	probably benign	Het
Grid2	C	G	6: 63,931,047	R224G	possibly damaging	Het
Kif20a	A	G	18: 34,625,526	E16G	probably damaging	Het
Kit	T	C	5: 75,640,757	V568A	possibly damaging	Het
Lhx4	T	C	1: 155,704,710	S257G	probably benign	Het
Med18	C	T	4: 132,459,982	V114I	probably benign	Het
Mrps30	C	T	13: 118,386,961	V92M	possibly damaging	Het
Mtrr	C	T	13: 68,564,333	V645I	probably benign	Het
Nuak2	T	G	1: 132,332,310	S609A	probably damaging	Het
Olfr1393	A	T	11: 49,280,552	I135F	probably benign	Het
Plk4	T	C	3: 40,801,828	V58A	probably damaging	Het
Polq	T	A	16: 37,015,173	F145L	probably null	Het
Rab11fip2	T	C	19: 59,937,275	K170R	probably damaging	Het
Rapgef3	A	G	15: 97,759,984	V246A	probably benign	Het
Rc3h2	A	G	2: 37,400,543	S316P	probably damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,579,904		probably benign	Homo
Rsf1	GCGGCGGC	GCGGCGGCGACGGCGGC	7: 97,579,928		probably benign	Het
Sae1	G	T	7: 16,368,536	A171E	probably damaging	Het
Setd5	T	A	6: 113,143,708	N959K	probably benign	Het
Siae	T	A	9: 37,616,823	Y31N	probably damaging	Het
Sit1	C	T	4: 43,483,311	G51D	probably damaging	Het
Slc5a11	A	G	7: 123,267,789	I436V	possibly damaging	Het
Tcfl5	A	G	2: 180,622,654	S470P	probably damaging	Het
Timd2	A	T	11: 46,670,952	C288*	probably null	Het
Timeless	T	G	10: 128,239,999		probably null	Het
Ubxn8	G	T	8: 33,621,544	Q274K	possibly damaging	Het
Usp29	A	G	7: 6,962,277	E373G	probably benign	Het
Zap70	A	G	1: 36,782,517	Y597C	probably damaging	Het
Zfp523	T	G	17: 28,200,472	Y195D	probably damaging	Het
Zfp74	G	A	7: 29,935,134	A383V	probably damaging	Het
Zfp93	A	T	7: 24,275,913	Q441L	probably damaging	Het
Zfp976	A	T	7: 42,614,186	Y76N	probably damaging	Het

Other mutations in Ccdc116

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01082:Ccdc116	APN	16	17141992	missense	probably damaging	1.00
IGL01905:Ccdc116	APN	16	17142561	missense	probably damaging	0.99
IGL02751:Ccdc116	APN	16	17141972	missense	probably benign	0.00
IGL03183:Ccdc116	APN	16	17142854	missense	probably benign	0.07
R0009:Ccdc116	UTSW	16	17144039	missense	probably damaging	1.00
R0009:Ccdc116	UTSW	16	17144039	missense	probably damaging	1.00
R0122:Ccdc116	UTSW	16	17142734	missense	probably damaging	1.00
R0219:Ccdc116	UTSW	16	17141612	missense	possibly damaging	0.93
R1664:Ccdc116	UTSW	16	17142628	missense	probably benign	0.02
R1718:Ccdc116	UTSW	16	17141908	missense	probably benign
R2921:Ccdc116	UTSW	16	17142443	missense	probably benign	0.02
R2922:Ccdc116	UTSW	16	17142443	missense	probably benign	0.02
R2923:Ccdc116	UTSW	16	17142443	missense	probably benign	0.02
R4119:Ccdc116	UTSW	16	17142187	missense	probably damaging	1.00
R4223:Ccdc116	UTSW	16	17146945	unclassified	probably benign
R5000:Ccdc116	UTSW	16	17141793	missense	possibly damaging	0.95
R5293:Ccdc116	UTSW	16	17141787	missense	possibly damaging	0.92
R5435:Ccdc116	UTSW	16	17142762	missense	probably benign	0.38
R7215:Ccdc116	UTSW	16	17139928	missense	probably damaging	1.00
R7247:Ccdc116	UTSW	16	17139691	missense	possibly damaging	0.89
R7771:Ccdc116	UTSW	16	17139591	missense	probably benign	0.00
R9591:Ccdc116	UTSW	16	17142734	missense	probably damaging	1.00
Z1088:Ccdc116	UTSW	16	17147171	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- TCGAGATCGATGCCTACTACTTG -3'
(R):5'- CTTACCCATTGCAGGCCATC -3'

Sequencing Primer
(F):5'- ACCTCCACGGGGTCTTGAATATC -3'
(R):5'- ATCCTGCCTGTTATGACTGCAAAG -3'

Posted On

2018-07-24