Mutagenetix > Incidental Mutation

Incidental Mutation 'R0780:Ccdc163'

76576

Institutional Source

Beutler Lab

Gene Symbol

Ccdc163

Ensembl Gene

ENSMUSG00000028689

Gene Name

coiled-coil domain containing 163

Synonyms

4933430J04Rik, 0610037D15Rik

MMRRC Submission

038960-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R0780 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

116565537-116572881 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 116569604 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 222 (K222E)

Ref Sequence

ENSEMBL: ENSMUSP00000102072 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030452] [ENSMUST00000030453] [ENSMUST00000106462] [ENSMUST00000106463] [ENSMUST00000106464] [ENSMUST00000125671] [ENSMUST00000138305] [ENSMUST00000155391] [ENSMUST00000130828] [ENSMUST00000135499]

AlphaFold

A2AGD7

Predicted Effect

probably benign
Transcript: ENSMUST00000030452
AA Change: K196E

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

SMART Domains

Protein: ENSMUSP00000030452
Gene: ENSMUSG00000028689
AA Change: K196E

Domain	Start	End	E-Value	Type
coiled coil region	112	144	N/A	INTRINSIC
coiled coil region	165	196	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000030453

SMART Domains

Protein: ENSMUSP00000030453
Gene: ENSMUSG00000028690

Domain	Start	End	E-Value	Type
Pfam:MMACHC	20	234	9.5e-102	PFAM
low complexity region	243	257	N/A	INTRINSIC
low complexity region	268	277	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106462
AA Change: K105E

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

SMART Domains

Protein: ENSMUSP00000102070
Gene: ENSMUSG00000028689
AA Change: K105E

Domain	Start	End	E-Value	Type
coiled coil region	21	53	N/A	INTRINSIC
coiled coil region	74	105	N/A	INTRINSIC
low complexity region	171	186	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106463
AA Change: K222E

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

SMART Domains

Protein: ENSMUSP00000102071
Gene: ENSMUSG00000028689
AA Change: K222E

Domain	Start	End	E-Value	Type
low complexity region	50	60	N/A	INTRINSIC
coiled coil region	138	170	N/A	INTRINSIC
coiled coil region	191	222	N/A	INTRINSIC
low complexity region	288	303	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106464
AA Change: K222E

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

SMART Domains

Protein: ENSMUSP00000102072
Gene: ENSMUSG00000028689
AA Change: K222E

Domain	Start	End	E-Value	Type
low complexity region	50	60	N/A	INTRINSIC
coiled coil region	138	170	N/A	INTRINSIC
coiled coil region	191	222	N/A	INTRINSIC
low complexity region	288	303	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124628

Predicted Effect

probably benign
Transcript: ENSMUST00000125671

SMART Domains

Protein: ENSMUSP00000120954
Gene: ENSMUSG00000028689

Domain	Start	End	E-Value	Type
low complexity region	50	60	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126197

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129624

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143330

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134192

Predicted Effect

probably benign
Transcript: ENSMUST00000138305

Predicted Effect

probably benign
Transcript: ENSMUST00000155391

SMART Domains

Protein: ENSMUSP00000120050
Gene: ENSMUSG00000028689

Domain	Start	End	E-Value	Type
low complexity region	49	59	N/A	INTRINSIC
coiled coil region	137	169	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000130828

SMART Domains

Protein: ENSMUSP00000120572
Gene: ENSMUSG00000028689

Domain	Start	End	E-Value	Type
low complexity region	49	59	N/A	INTRINSIC
coiled coil region	137	169	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000135499

SMART Domains

Protein: ENSMUSP00000114263
Gene: ENSMUSG00000028689

Domain	Start	End	E-Value	Type
low complexity region	63	73	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000156206

SMART Domains

Protein: ENSMUSP00000123645
Gene: ENSMUSG00000028689

Domain	Start	End	E-Value	Type
low complexity region	32	42	N/A	INTRINSIC
low complexity region	58	73	N/A	INTRINSIC

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.4%
20x: 94.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ache	C	T	5: 137,288,794 (GRCm39)	R167C	probably damaging	Het
Ahsa1	T	C	12: 87,315,102 (GRCm39)	I85T	probably benign	Het
Btaf1	T	C	19: 36,966,322 (GRCm39)	L1030S	probably damaging	Het
Cpsf1	A	G	15: 76,484,577 (GRCm39)	F635L	probably benign	Het
Cubn	G	A	2: 13,461,424 (GRCm39)	T701M	probably damaging	Het
Cxcr2	T	A	1: 74,198,334 (GRCm39)	M276K	probably damaging	Het
Daam1	T	A	12: 71,993,824 (GRCm39)	I409K	unknown	Het
Dnah10	G	T	5: 124,827,876 (GRCm39)	G741W	possibly damaging	Het
Ica1l	A	G	1: 60,036,608 (GRCm39)		probably null	Het
Ifi208	A	G	1: 173,510,262 (GRCm39)	D139G	probably benign	Het
Kat2b	T	A	17: 53,874,476 (GRCm39)	V40E	unknown	Het
Kmt2d	G	T	15: 98,760,738 (GRCm39)	P871T	unknown	Het
Lats2	A	T	14: 57,928,753 (GRCm39)	Y1041N	probably damaging	Het
Lifr	C	T	15: 7,206,947 (GRCm39)	T486I	probably benign	Het
Mtmr4	T	A	11: 87,502,266 (GRCm39)	D773E	probably benign	Het
Ptgds	A	G	2: 25,358,104 (GRCm39)	F143S	possibly damaging	Het
Rp1l1	A	G	14: 64,267,800 (GRCm39)	S1129G	possibly damaging	Het
Sdk2	A	G	11: 113,784,334 (GRCm39)	V135A	probably benign	Het
Slc12a8	G	A	16: 33,467,035 (GRCm39)		probably null	Het
Thsd7a	A	G	6: 12,337,273 (GRCm39)	V1248A	probably damaging	Het
Tpr	T	A	1: 150,307,092 (GRCm39)	H1562Q	probably benign	Het
Uba3	G	A	6: 97,163,666 (GRCm39)	R294*	probably null	Het
Vmn2r22	A	T	6: 123,614,933 (GRCm39)	V219E	probably damaging	Het
Zfand6	T	A	7: 84,265,042 (GRCm39)	I220F	probably damaging	Het

Other mutations in Ccdc163

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00906:Ccdc163	APN	4	116,567,487 (GRCm39)	splice site	probably null
IGL01389:Ccdc163	APN	4	116,568,503 (GRCm39)	unclassified	probably benign
IGL02862:Ccdc163	APN	4	116,569,910 (GRCm39)	splice site	probably null
R2035:Ccdc163	UTSW	4	116,568,530 (GRCm39)	missense	probably damaging	1.00
R2870:Ccdc163	UTSW	4	116,599,058 (GRCm39)	synonymous	silent
R3105:Ccdc163	UTSW	4	116,566,697 (GRCm39)	missense	probably benign	0.27
R4728:Ccdc163	UTSW	4	116,566,209 (GRCm39)	unclassified	probably benign
R4925:Ccdc163	UTSW	4	116,568,528 (GRCm39)	missense	possibly damaging	0.82
R5749:Ccdc163	UTSW	4	116,571,309 (GRCm39)	nonsense	probably null
R6529:Ccdc163	UTSW	4	116,566,121 (GRCm39)	splice site	probably null
R6651:Ccdc163	UTSW	4	116,566,261 (GRCm39)	missense	possibly damaging	0.87
R8306:Ccdc163	UTSW	4	116,567,472 (GRCm39)	missense	probably damaging	1.00
R8700:Ccdc163	UTSW	4	116,571,348 (GRCm39)	critical splice donor site	probably null
R8840:Ccdc163	UTSW	4	116,567,483 (GRCm39)	critical splice donor site	probably null
R9723:Ccdc163	UTSW	4	116,569,595 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CATCACCTTGGTATCTTCCCAGCAG -3'
(R):5'- ACTGACCACCCTAACCAATTTTGGC -3'

Sequencing Primer
(F):5'- TGAAGTTGGAGAATGGTCCC -3'
(R):5'- AAGGTATGAACCCTGTCCATCTG -3'

Posted On

2013-10-16