Mutagenetix > Incidental Mutation

Incidental Mutation 'R2035:Ccdc163'

224448

Institutional Source

Beutler Lab

Gene Symbol

Ccdc163

Ensembl Gene

ENSMUSG00000028689

Gene Name

coiled-coil domain containing 163

Synonyms

4933430J04Rik, 0610037D15Rik

MMRRC Submission

040042-MU

Accession Numbers

Essential gene?

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

Stock #

R2035 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

116565537-116572881 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 116568530 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 195 (S195P)

Ref Sequence

ENSEMBL: ENSMUSP00000102072 (fasta)

Gene Model

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

AlphaFold

A2AGD7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030452
AA Change: S169P

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000030452
Gene: ENSMUSG00000028689
AA Change: S169P

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

possibly damaging
Transcript: ENSMUST00000106462
AA Change: S78P

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000102070
Gene: ENSMUSG00000028689
AA Change: S78P

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 damaging
Transcript: ENSMUST00000106463
AA Change: S195P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000102071
Gene: ENSMUSG00000028689
AA Change: S195P

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 damaging
Transcript: ENSMUST00000106464
AA Change: S195P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000102072
Gene: ENSMUSG00000028689
AA Change: S195P

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: 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

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: ENSMUST00000138305

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 93.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	C	13: 77,760,761 (GRCm39)	*1273Q	probably null	Het
Aars2	A	G	17: 45,825,727 (GRCm39)	I348V	possibly damaging	Het
Abca8b	G	A	11: 109,847,932 (GRCm39)	R788C	possibly damaging	Het
Abhd15	T	C	11: 77,406,536 (GRCm39)	L171P	probably damaging	Het
Abi3bp	A	T	16: 56,480,581 (GRCm39)	H686L	probably benign	Het
Acsl1	A	G	8: 46,981,621 (GRCm39)	Y456C	probably damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Ash1l	T	A	3: 88,973,624 (GRCm39)	V2561D	probably benign	Het
B3galnt2	T	A	13: 14,140,909 (GRCm39)	F44I	probably benign	Het
Bicra	A	T	7: 15,730,338 (GRCm39)	H24Q	possibly damaging	Het
Cd163	A	T	6: 124,297,588 (GRCm39)	K911N	probably damaging	Het
Clcn3	A	T	8: 61,387,632 (GRCm39)	S179T	probably damaging	Het
Dctn4	T	A	18: 60,671,489 (GRCm39)	D120E	possibly damaging	Het
Dnali1	C	T	4: 124,952,903 (GRCm39)	V207M	probably damaging	Het
Dnhd1	A	G	7: 105,354,128 (GRCm39)	Q3036R	probably damaging	Het
Dst	G	A	1: 34,310,494 (GRCm39)	R4098H	probably damaging	Het
Eml5	A	T	12: 98,760,525 (GRCm39)	N1741K	probably benign	Het
Enah	G	A	1: 181,749,537 (GRCm39)	P415L	probably damaging	Het
Entr1	T	A	2: 26,273,639 (GRCm39)	S374C	probably damaging	Het
Ess2	A	G	16: 17,727,950 (GRCm39)		probably null	Het
F8	ATCTCTCTC	ATCTCTC	X: 74,366,604 (GRCm39)		probably null	Het
Gm4841	T	G	18: 60,402,929 (GRCm39)	Y388S	probably benign	Het
Grin3a	T	C	4: 49,771,336 (GRCm39)	T479A	probably damaging	Het
Gucy2e	C	A	11: 69,118,358 (GRCm39)	V743L	probably benign	Het
Il33	T	A	19: 29,932,037 (GRCm39)	N143K	probably damaging	Het
Ism1	T	A	2: 139,599,075 (GRCm39)	S349R	probably damaging	Het
Itgb2	T	A	10: 77,383,033 (GRCm39)	D134E	probably damaging	Het
Kcnk1	A	C	8: 126,752,108 (GRCm39)	N238T	possibly damaging	Het
Kcnu1	G	T	8: 26,386,721 (GRCm39)	V535L	probably benign	Het
Muc19	T	A	15: 91,776,599 (GRCm39)		noncoding transcript	Het
Mycbp2	A	T	14: 103,497,675 (GRCm39)	Y966N	probably damaging	Het
Myo19	A	T	11: 84,788,434 (GRCm39)	M349L	probably benign	Het
Narf	G	A	11: 121,129,326 (GRCm39)	A37T	probably benign	Het
Ncapd2	T	C	6: 125,161,491 (GRCm39)	N208D	probably benign	Het
Nr1i2	A	G	16: 38,071,488 (GRCm39)		probably null	Het
Opn5	A	G	17: 42,918,052 (GRCm39)	I70T	probably damaging	Het
Or52e19	T	A	7: 102,959,463 (GRCm39)	H178Q	probably damaging	Het
Or7a38	T	C	10: 78,753,421 (GRCm39)	V249A	possibly damaging	Het
Pkn2	G	T	3: 142,526,348 (GRCm39)	P410T	probably damaging	Het
Pla2r1	T	C	2: 60,253,080 (GRCm39)	N1337S	probably damaging	Het
Prkd3	A	T	17: 79,282,802 (GRCm39)		probably null	Het
Pum2	T	A	12: 8,778,638 (GRCm39)	Y429*	probably null	Het
Resf1	G	A	6: 149,230,724 (GRCm39)	V1257I	possibly damaging	Het
Rttn	T	A	18: 89,038,340 (GRCm39)	V812E	probably damaging	Het
Rufy2	T	A	10: 62,842,526 (GRCm39)	L483H	probably damaging	Het
Slc35a3	T	A	3: 116,480,972 (GRCm39)	Q97L	probably damaging	Het
St18	A	T	1: 6,872,552 (GRCm39)	M96L	probably benign	Het
Strc	G	A	2: 121,205,415 (GRCm39)	A905V	probably damaging	Het
Syne3	T	C	12: 104,924,386 (GRCm39)	M338V	probably benign	Het
Syngr2	A	G	11: 117,704,186 (GRCm39)	D187G	probably benign	Het
Tas2r109	A	C	6: 132,957,423 (GRCm39)	I169R	probably benign	Het
Tbc1d22a	T	A	15: 86,275,266 (GRCm39)		probably null	Het
Thbs1	T	A	2: 117,948,821 (GRCm39)		probably null	Het
Them6	C	A	15: 74,593,524 (GRCm39)	D127E	probably damaging	Het
Tmem132d	T	C	5: 127,869,522 (GRCm39)	D604G	probably damaging	Het
Tnni1	A	G	1: 135,733,330 (GRCm39)	T51A	probably benign	Het
Topors	T	C	4: 40,262,879 (GRCm39)	N135S	probably damaging	Het
Unc80	A	T	1: 66,645,752 (GRCm39)	D1476V	probably damaging	Het
Vmn1r17	A	G	6: 57,337,573 (GRCm39)	V264A	probably benign	Het
Vmn1r193	T	A	13: 22,403,732 (GRCm39)	T87S	probably benign	Het
Vmn1r202	C	A	13: 22,685,772 (GRCm39)	R215L	probably damaging	Het
Vmn2r24	A	T	6: 123,793,019 (GRCm39)	N782I	probably damaging	Het
Vmn2r53	A	G	7: 12,332,438 (GRCm39)	F404L	possibly damaging	Het
Xpo4	A	T	14: 57,823,383 (GRCm39)	C1036S	possibly damaging	Het
Yae1d1	T	C	13: 18,164,306 (GRCm39)	N104D	probably benign	Het
Zan	C	A	5: 137,442,209 (GRCm39)	R1901L	unknown	Het
Zbtb9	G	A	17: 27,193,897 (GRCm39)	R434H	probably damaging	Het
Zdhhc23	A	C	16: 43,793,871 (GRCm39)	C268G	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
R0780:Ccdc163	UTSW	4	116,569,604 (GRCm39)	missense	probably benign
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'- AATGTTTGGCCTACTCACTTTG -3'
(R):5'- CAGTTCCAAGGGATCTGACAC -3'

Sequencing Primer
(F):5'- ACTCACTTTGTTTCTCTGTGATGTTG -3'
(R):5'- GGGATCTGACACCCTCACACAG -3'

Posted On

2014-08-25