Mutagenetix > Incidental Mutation

Incidental Mutation 'R8869:Ccdc168'

676115

Institutional Source

Beutler Lab

Gene Symbol

Ccdc168

Ensembl Gene

ENSMUSG00000091844

Gene Name

coiled-coil domain containing 168

Synonyms

Gm8251

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R8869 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

44095032-44118906 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 44097425 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 1224 (D1224E)

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: D1224E

PolyPhen 2 Score 0.682 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000127017
Gene: ENSMUSG00000091844
AA Change: D1224E

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl5	G	A	19: 55,266,523 (GRCm39)	R114Q	possibly damaging	Het
Atp1a4	C	T	1: 172,054,690 (GRCm39)	V980I	probably benign	Het
Bltp1	T	A	3: 37,013,007 (GRCm39)	C1895S	probably damaging	Het
Brd1	A	T	15: 88,614,729 (GRCm39)	D55E	probably benign	Het
Cachd1	A	G	4: 100,809,280 (GRCm39)	D255G	probably benign	Het
Ces2f	C	A	8: 105,676,704 (GRCm39)	P133T	probably damaging	Het
Cfap251	A	T	5: 123,460,505 (GRCm39)	M1156L	possibly damaging	Het
Clock	GGCTGCTGCTGCTGCTGCTGCTGCTG	GGCTGCTGCTGCTGCTGCTGCTG	5: 76,374,889 (GRCm39)		probably benign	Het
Cyp4f37	A	T	17: 32,844,096 (GRCm39)	I67F	probably benign	Het
Dbf4	T	C	5: 8,448,656 (GRCm39)	I84V		Het
Dcc	T	C	18: 71,511,755 (GRCm39)	T887A	probably benign	Het
Dhdh	G	T	7: 45,137,536 (GRCm39)	N50K	probably benign	Het
Dnah7c	A	T	1: 46,671,504 (GRCm39)	E1631V	probably damaging	Het
Dusp23	A	G	1: 172,460,293 (GRCm39)	C53R	possibly damaging	Het
Efcab6	G	A	15: 83,928,432 (GRCm39)	S54L	probably damaging	Het
Fcamr	T	C	1: 130,739,335 (GRCm39)	F212L	probably damaging	Het
Gfap	G	C	11: 102,787,810 (GRCm39)	A45G	probably benign	Het
Grm8	C	T	6: 27,363,752 (GRCm39)	V588M	probably benign	Het
H1f8	A	G	6: 115,926,911 (GRCm39)	T263A	probably benign	Het
Hoatz	T	A	9: 50,992,832 (GRCm39)		probably null	Het
Inhca	T	C	9: 103,149,831 (GRCm39)	Y242C	probably damaging	Het
Malrd1	T	A	2: 15,570,368 (GRCm39)		probably null	Het
Mxi1	G	A	19: 53,360,126 (GRCm39)	G283S	probably damaging	Het
Myh15	T	C	16: 48,997,366 (GRCm39)	V1728A	probably benign	Het
Nxph2	T	A	2: 23,290,071 (GRCm39)	V141D	probably damaging	Het
Or11l3	T	C	11: 58,515,994 (GRCm39)	E106G	unknown	Het
Or2t26	A	T	11: 49,039,483 (GRCm39)	Y133F	probably damaging	Het
Or4f6	A	T	2: 111,838,596 (GRCm39)	S312T	possibly damaging	Het
Or5b121	A	T	19: 13,507,892 (GRCm39)	N329I	probably damaging	Het
Or5d36	T	A	2: 87,901,753 (GRCm39)		probably null	Het
Or5h25	A	G	16: 58,930,121 (GRCm39)	V284A		Het
Or5w10	A	T	2: 87,375,753 (GRCm39)	M45K	probably damaging	Het
Or8c10	A	G	9: 38,279,142 (GRCm39)	N90S	possibly damaging	Het
Otof	T	A	5: 30,578,325 (GRCm39)	I108F	probably benign	Het
Pcdha4	A	T	18: 37,086,011 (GRCm39)	R65*	probably null	Het
Pde11a	T	C	2: 76,041,434 (GRCm39)	H412R	probably benign	Het
Peli3	C	T	19: 4,982,541 (GRCm39)	G375S	probably damaging	Het
Ppp6r3	A	G	19: 3,561,927 (GRCm39)		probably null	Het
Prcp	T	C	7: 92,559,518 (GRCm39)	V194A	possibly damaging	Het
Prkce	T	C	17: 86,476,370 (GRCm39)		probably null	Het
Prss23	A	T	7: 89,159,887 (GRCm39)	S61T	probably benign	Het
Ptprq	C	T	10: 107,535,469 (GRCm39)	R432H	probably damaging	Het
Rnase2a	T	A	14: 51,493,101 (GRCm39)	N88I	possibly damaging	Het
Rspry1	G	T	8: 95,359,780 (GRCm39)	L230F	probably damaging	Het
Slco1a8	A	G	6: 141,927,810 (GRCm39)	V548A	probably damaging	Het
Smpd2	A	G	10: 41,365,301 (GRCm39)	L65P	probably benign	Het
Sorl1	A	G	9: 41,933,722 (GRCm39)	Y1083H	probably benign	Het
Tjp1	A	G	7: 64,986,386 (GRCm39)	S241P	probably damaging	Het
Tmed6	A	C	8: 107,792,164 (GRCm39)	L27R	probably damaging	Het
Tmem52	G	A	4: 155,553,788 (GRCm39)	C32Y	probably damaging	Het
Tmprss15	C	A	16: 78,750,834 (GRCm39)	G1022*	probably null	Het
Ttn	T	C	2: 76,730,345 (GRCm39)	S5085G	unknown	Het
Vmn2r37	C	T	7: 9,209,854 (GRCm39)	V553M	possibly damaging	Het
Wdr70	A	T	15: 8,123,210 (GRCm39)	M42K	probably benign	Het
Zfp735	T	A	11: 73,602,510 (GRCm39)	C485S	possibly 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
R5559:Ccdc168	UTSW	1	44,097,675 (GRCm39)	missense	possibly damaging	0.77
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
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'- GTATTTCAGAAAGAACTCGGGTTTGG -3'
(R):5'- ATACTTGGTAGTCCGAGCAGG -3'

Sequencing Primer
(F):5'- GGATCTTATTTTCAACAGGGACTTC -3'
(R):5'- GAAGAGGAAATTGGAATATGCCTTC -3'

Posted On

2021-07-15