Mutagenetix > Incidental Mutation

Incidental Mutation 'R5559:Ccdc168'

436440

Institutional Source

Beutler Lab

Gene Symbol

Ccdc168

Ensembl Gene

ENSMUSG00000091844

Gene Name

coiled-coil domain containing 168

Synonyms

Gm8251

MMRRC Submission

043116-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R5559 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

44095032-44118906 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 44097675 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Threonine at position 1141 (R1141T)

Ref Sequence

ENSEMBL: ENSMUSP00000127017 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000168641]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000168641
AA Change: R1141T

PolyPhen 2 Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000127017
Gene: ENSMUSG00000091844
AA Change: R1141T

Domain	Start	End	E-Value	Type
Pfam:CCDC168_N	2	202	2.5e-83	PFAM
Pfam:CCDC168_N	200	302	1.7e-26	PFAM
Pfam:CCDC168_N	347	397	2.1e-4	PFAM
Pfam:CCDC168_N	437	581	8.5e-8	PFAM
Pfam:CCDC168_N	663	802	6.3e-5	PFAM
Pfam:CCDC168_N	788	955	1e-9	PFAM
low complexity region	1803	1819	N/A	INTRINSIC
low complexity region	1830	1847	N/A	INTRINSIC
low complexity region	1968	1984	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.3%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310034C09Rik	G	T	16: 88,555,981 (GRCm39)	R65L	unknown	Het
Abcc5	A	T	16: 20,157,636 (GRCm39)	M1307K	probably damaging	Het
Anapc1	A	T	2: 128,522,354 (GRCm39)	C129*	probably null	Het
Brd10	A	C	19: 29,694,363 (GRCm39)	F1710C	possibly damaging	Het
Brox	A	T	1: 183,073,552 (GRCm39)	S39R	possibly damaging	Het
Cd109	T	C	9: 78,568,250 (GRCm39)	V310A	probably benign	Het
Chd9	G	A	8: 91,742,553 (GRCm39)		probably null	Het
Chmp2b	A	T	16: 65,337,316 (GRCm39)	I170N	probably damaging	Het
Cnp	G	T	11: 100,467,243 (GRCm39)	G62V	probably damaging	Het
Dcp2	C	A	18: 44,538,554 (GRCm39)	P206T	probably damaging	Het
Dhx57	A	T	17: 80,561,808 (GRCm39)	V902E	possibly damaging	Het
Dmwd	G	A	7: 18,814,363 (GRCm39)	V338M	probably damaging	Het
Eva1c	A	G	16: 90,701,139 (GRCm39)	D258G	probably benign	Het
Flvcr2	T	A	12: 85,851,181 (GRCm39)	F448L	probably benign	Het
Garin5b	A	G	7: 4,761,449 (GRCm39)	V421A	probably damaging	Het
Gchfr	C	T	2: 119,000,187 (GRCm39)	H23Y	probably benign	Het
Helz2	T	A	2: 180,871,919 (GRCm39)	M2617L	probably damaging	Het
Ighv5-9-1	A	T	12: 113,699,745 (GRCm39)	Y122*	probably null	Het
Lrrtm3	A	G	10: 63,766,045 (GRCm39)	I514T	probably benign	Het
Nolc1	GAGCAGCAGCAGCAGCAGCAGCAGCAGC	GAGCAGCAGCAGCAGCAGCAGCAGC	19: 46,071,594 (GRCm39)		probably benign	Het
Obox5	A	T	7: 15,491,522 (GRCm39)	I21F	probably benign	Het
Or51f1	C	T	7: 102,506,414 (GRCm39)	G25D	possibly damaging	Het
P2rx2	T	C	5: 110,488,427 (GRCm39)	I376V	possibly damaging	Het
Poli	A	G	18: 70,642,356 (GRCm39)	S529P	probably benign	Het
Ruvbl1	T	C	6: 88,450,078 (GRCm39)	I83T	possibly damaging	Het
Rwdd2a	T	C	9: 86,456,483 (GRCm39)	S220P	probably damaging	Het
Serpinb9h	T	A	13: 33,588,301 (GRCm39)	D295E	probably benign	Het
Sf3b3	A	T	8: 111,564,847 (GRCm39)	D320E	probably benign	Het
Slc6a21	C	A	7: 44,937,853 (GRCm39)	L390I	possibly damaging	Het
Smarcd1	T	G	15: 99,601,176 (GRCm39)		probably null	Het
Sp1	T	A	15: 102,317,365 (GRCm39)	S295T	probably benign	Het
Tas2r104	T	A	6: 131,662,094 (GRCm39)	H205L	probably damaging	Het
Tmem69	C	G	4: 116,410,388 (GRCm39)	G194A	probably damaging	Het
Unc5c	G	T	3: 141,509,548 (GRCm39)	C676F	probably damaging	Het
Unkl	A	G	17: 25,424,687 (GRCm39)	N52S	probably benign	Het
Vmn1r233	T	C	17: 21,214,839 (GRCm39)	Y37C	possibly damaging	Het
Vmn1r57	A	G	7: 5,223,898 (GRCm39)	N141S	probably damaging	Het
Vmn2r50	T	C	7: 9,771,253 (GRCm39)	Y816C	probably damaging	Het
Vmn2r51	T	A	7: 9,826,128 (GRCm39)	S540C	probably damaging	Het

Other mutations in Ccdc168

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
D3080:Ccdc168	UTSW	1	44,106,495 (GRCm39)
R0045:Ccdc168	UTSW	1	44,096,365 (GRCm39)	missense	probably benign
R0110:Ccdc168	UTSW	1	44,098,384 (GRCm39)	missense	probably benign
R0450:Ccdc168	UTSW	1	44,100,257 (GRCm39)	missense	possibly damaging	0.85
R0469:Ccdc168	UTSW	1	44,100,257 (GRCm39)	missense	possibly damaging	0.85
R0510:Ccdc168	UTSW	1	44,100,257 (GRCm39)	missense	possibly damaging	0.85
R0602:Ccdc168	UTSW	1	44,099,127 (GRCm39)	missense	possibly damaging	0.96
R0648:Ccdc168	UTSW	1	44,095,723 (GRCm39)	missense	possibly damaging	0.73
R0928:Ccdc168	UTSW	1	44,096,388 (GRCm39)	missense	possibly damaging	0.73
R1056:Ccdc168	UTSW	1	44,100,087 (GRCm39)	missense	probably damaging	1.00
R1217:Ccdc168	UTSW	1	44,096,339 (GRCm39)	missense	possibly damaging	0.73
R1232:Ccdc168	UTSW	1	44,095,752 (GRCm39)	missense	possibly damaging	0.96
R1399:Ccdc168	UTSW	1	44,100,471 (GRCm39)	missense	possibly damaging	0.93
R1489:Ccdc168	UTSW	1	44,100,667 (GRCm39)	missense	probably benign	0.06
R1489:Ccdc168	UTSW	1	44,096,950 (GRCm39)	missense	probably benign	0.18
R1519:Ccdc168	UTSW	1	44,096,130 (GRCm39)	missense	probably benign	0.33
R1664:Ccdc168	UTSW	1	44,098,387 (GRCm39)	missense	possibly damaging	0.71
R1828:Ccdc168	UTSW	1	44,096,234 (GRCm39)	missense	possibly damaging	0.72
R1944:Ccdc168	UTSW	1	44,101,009 (GRCm39)	missense	probably damaging	0.97
R2032:Ccdc168	UTSW	1	44,100,900 (GRCm39)	missense	possibly damaging	0.86
R2094:Ccdc168	UTSW	1	44,098,890 (GRCm39)	missense	probably benign	0.06
R2170:Ccdc168	UTSW	1	44,095,168 (GRCm39)	missense	probably benign	0.18
R2185:Ccdc168	UTSW	1	44,100,541 (GRCm39)	missense	probably benign	0.01
R2280:Ccdc168	UTSW	1	44,095,620 (GRCm39)	missense	possibly damaging	0.53
R2281:Ccdc168	UTSW	1	44,095,620 (GRCm39)	missense	possibly damaging	0.53
R2339:Ccdc168	UTSW	1	44,100,023 (GRCm39)	missense	probably benign
R3617:Ccdc168	UTSW	1	44,100,114 (GRCm39)	missense	probably benign
R3738:Ccdc168	UTSW	1	44,098,026 (GRCm39)	missense	probably benign	0.33
R4012:Ccdc168	UTSW	1	44,100,129 (GRCm39)	missense	possibly damaging	0.85
R4034:Ccdc168	UTSW	1	44,098,026 (GRCm39)	missense	probably benign	0.33
R4344:Ccdc168	UTSW	1	44,100,151 (GRCm39)	missense	possibly damaging	0.86
R4436:Ccdc168	UTSW	1	44,095,276 (GRCm39)	missense	probably benign	0.03
R4485:Ccdc168	UTSW	1	44,099,283 (GRCm39)	missense	probably benign
R4735:Ccdc168	UTSW	1	44,100,861 (GRCm39)	missense	probably benign
R4782:Ccdc168	UTSW	1	44,098,203 (GRCm39)	missense	possibly damaging	0.85
R4837:Ccdc168	UTSW	1	44,100,594 (GRCm39)	missense	possibly damaging	0.93
R4862:Ccdc168	UTSW	1	44,097,178 (GRCm39)	missense	possibly damaging	0.93
R5247:Ccdc168	UTSW	1	44,096,166 (GRCm39)	nonsense	probably null
R5347:Ccdc168	UTSW	1	44,096,955 (GRCm39)	missense	probably benign	0.01
R5355:Ccdc168	UTSW	1	44,097,139 (GRCm39)	missense	possibly damaging	0.53
R5640:Ccdc168	UTSW	1	44,101,087 (GRCm39)	missense	probably benign	0.00
R5681:Ccdc168	UTSW	1	44,100,624 (GRCm39)	missense	possibly damaging	0.93
R5776:Ccdc168	UTSW	1	44,095,665 (GRCm39)	missense	possibly damaging	0.72
R5919:Ccdc168	UTSW	1	44,096,146 (GRCm39)	missense	probably benign
R5987:Ccdc168	UTSW	1	44,096,417 (GRCm39)	missense	probably benign
R6616:Ccdc168	UTSW	1	44,100,634 (GRCm39)	missense	possibly damaging	0.51
R6677:Ccdc168	UTSW	1	44,097,859 (GRCm39)	missense	probably benign	0.00
R6830:Ccdc168	UTSW	1	44,095,890 (GRCm39)	missense	probably benign	0.33
R6906:Ccdc168	UTSW	1	44,095,173 (GRCm39)	missense	probably benign	0.33
R6909:Ccdc168	UTSW	1	44,098,935 (GRCm39)	missense	possibly damaging	0.71
R6957:Ccdc168	UTSW	1	44,096,367 (GRCm39)	missense	probably benign	0.00
R7008:Ccdc168	UTSW	1	44,098,785 (GRCm39)	missense	probably benign
R7052:Ccdc168	UTSW	1	44,096,466 (GRCm39)	missense	possibly damaging	0.53
R7176:Ccdc168	UTSW	1	44,099,506 (GRCm39)	missense	probably benign	0.00
R7190:Ccdc168	UTSW	1	44,100,775 (GRCm39)	missense	probably benign	0.32
R7296:Ccdc168	UTSW	1	44,100,076 (GRCm39)	nonsense	probably null
R7347:Ccdc168	UTSW	1	44,098,656 (GRCm39)	missense	probably damaging	0.99
R7371:Ccdc168	UTSW	1	44,100,537 (GRCm39)	missense	probably benign
R7375:Ccdc168	UTSW	1	44,099,694 (GRCm39)	missense	possibly damaging	0.53
R7442:Ccdc168	UTSW	1	44,097,868 (GRCm39)	missense	possibly damaging	0.84
R7450:Ccdc168	UTSW	1	44,097,933 (GRCm39)	missense	probably benign	0.33
R7574:Ccdc168	UTSW	1	44,098,593 (GRCm39)	missense	possibly damaging	0.93
R7586:Ccdc168	UTSW	1	44,099,173 (GRCm39)	missense	probably benign	0.20
R7739:Ccdc168	UTSW	1	44,095,578 (GRCm39)	missense	possibly damaging	0.86
R7878:Ccdc168	UTSW	1	44,095,174 (GRCm39)	missense	probably benign	0.18
R7959:Ccdc168	UTSW	1	44,096,728 (GRCm39)	missense	probably benign
R7991:Ccdc168	UTSW	1	44,098,869 (GRCm39)	missense	probably benign	0.00
R8035:Ccdc168	UTSW	1	44,100,711 (GRCm39)	missense	possibly damaging	0.51
R8281:Ccdc168	UTSW	1	44,095,698 (GRCm39)	missense	possibly damaging	0.93
R8523:Ccdc168	UTSW	1	44,099,994 (GRCm39)	missense	possibly damaging	0.86
R8804:Ccdc168	UTSW	1	44,095,809 (GRCm39)	missense	probably benign
R8869:Ccdc168	UTSW	1	44,097,425 (GRCm39)	missense	possibly damaging	0.68
R8891:Ccdc168	UTSW	1	44,096,284 (GRCm39)	missense	probably benign	0.00
R9010:Ccdc168	UTSW	1	44,100,633 (GRCm39)	missense	possibly damaging	0.51
R9082:Ccdc168	UTSW	1	44,099,874 (GRCm39)	missense	unknown
R9097:Ccdc168	UTSW	1	44,098,049 (GRCm39)	missense	possibly damaging	0.73
R9157:Ccdc168	UTSW	1	44,096,520 (GRCm39)	missense	probably benign	0.33
R9262:Ccdc168	UTSW	1	44,096,269 (GRCm39)	missense	possibly damaging	0.73
R9313:Ccdc168	UTSW	1	44,096,520 (GRCm39)	missense	probably benign	0.33
R9419:Ccdc168	UTSW	1	44,096,935 (GRCm39)	missense	probably benign	0.03
R9433:Ccdc168	UTSW	1	44,095,668 (GRCm39)	missense	possibly damaging	0.86
R9485:Ccdc168	UTSW	1	44,095,399 (GRCm39)	missense	possibly damaging	0.72
R9511:Ccdc168	UTSW	1	44,098,854 (GRCm39)	missense	probably benign	0.00
R9573:Ccdc168	UTSW	1	44,095,307 (GRCm39)	nonsense	probably null
R9748:Ccdc168	UTSW	1	44,095,824 (GRCm39)	missense	possibly damaging	0.91
YA93:Ccdc168	UTSW	1	44,104,245 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- AGCATCTGGTAATTTCTCCTGG -3'
(R):5'- CAGTCAAGGGTACGCATGAG -3'

Sequencing Primer
(F):5'- GCATCTGGTAATTTCTCCTGGAATTC -3'
(R):5'- CATGAGTAATAAGGCGGTTTGTGAC -3'

Posted On

2016-10-24