Mutagenetix > Incidental Mutation

Incidental Mutation 'R7739:Ccdc168'

596403

Institutional Source

Beutler Lab

Gene Symbol

Ccdc168

Ensembl Gene

ENSMUSG00000091844

Gene Name

coiled-coil domain containing 168

Synonyms

Gm8251

MMRRC Submission

045795-MU

Accession Numbers

Essential gene?

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

Stock #

R7739 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

44095032-44118906 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 44095578 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 1840 (T1840I)

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: T1840I

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000127017
Gene: ENSMUSG00000091844
AA Change: T1840I

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: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130401M01Rik	C	A	15: 57,885,875 (GRCm39)	A336S	probably benign	Het
Abca8b	A	G	11: 109,865,417 (GRCm39)	S347P	probably benign	Het
Acvr1	T	C	2: 58,352,983 (GRCm39)	T326A	possibly damaging	Het
Atp13a4	A	G	16: 29,275,419 (GRCm39)	I355T		Het
Atp2a2	G	A	5: 122,607,768 (GRCm39)	T247I	probably damaging	Het
Atp2b1	T	A	10: 98,837,227 (GRCm39)	D555E	probably benign	Het
Aurkb	G	T	11: 68,939,058 (GRCm39)	G94*	probably null	Het
B130006D01Rik	A	T	11: 95,616,986 (GRCm39)	H37L	unknown	Het
Cabin1	A	G	10: 75,494,492 (GRCm39)	L1629P	probably damaging	Het
Ccdc80	A	C	16: 44,916,186 (GRCm39)	D314A	probably benign	Het
Cdc42bpg	T	A	19: 6,360,845 (GRCm39)	I201N	probably damaging	Het
Chd9	T	C	8: 91,761,653 (GRCm39)	L2246P	probably damaging	Het
Cpsf1	T	A	15: 76,484,511 (GRCm39)	M657L	probably benign	Het
Dmtf1	A	G	5: 9,190,453 (GRCm39)	V87A	probably damaging	Het
Drd5	G	T	5: 38,477,421 (GRCm39)	W138L	probably damaging	Het
Dspp	G	A	5: 104,326,012 (GRCm39)	D792N	unknown	Het
Fat2	C	A	11: 55,171,957 (GRCm39)	E2919*	probably null	Het
Fgf20	A	G	8: 40,732,937 (GRCm39)	V167A	probably damaging	Het
Grm5	T	C	7: 87,779,266 (GRCm39)	V934A	possibly damaging	Het
Gtf3c3	G	T	1: 54,444,198 (GRCm39)	A730D	possibly damaging	Het
H2-T24	A	G	17: 36,325,483 (GRCm39)	V335A	probably benign	Het
Havcr2	T	G	11: 46,347,384 (GRCm39)	N120K	probably damaging	Het
Hmcn2	T	C	2: 31,348,038 (GRCm39)	F4895L	possibly damaging	Het
Igsf3	T	C	3: 101,342,847 (GRCm39)	Y475H	probably damaging	Het
Lonp1	T	C	17: 56,933,620 (GRCm39)	D85G	probably benign	Het
Lrrc49	T	C	9: 60,500,975 (GRCm39)	S657G	probably benign	Het
Lrrk2	T	A	15: 91,584,816 (GRCm39)	Y382N	probably damaging	Het
Macf1	T	C	4: 123,279,391 (GRCm39)	D3870G	probably damaging	Het
Mtf1	T	A	4: 124,718,081 (GRCm39)	C260S	probably damaging	Het
Naa35	A	G	13: 59,747,598 (GRCm39)	D110G	probably damaging	Het
Npas3	A	T	12: 54,115,501 (GRCm39)	T808S	probably damaging	Het
Or5a1	A	G	19: 12,097,909 (GRCm39)	W56R	probably damaging	Het
Pax9	A	T	12: 56,746,884 (GRCm39)	H240L	probably benign	Het
Pik3c2a	T	C	7: 115,993,529 (GRCm39)	T413A	probably benign	Het
Pik3r1	A	G	13: 101,846,205 (GRCm39)	V127A	probably benign	Het
Pik3r5	A	G	11: 68,381,324 (GRCm39)	E170G	probably damaging	Het
Polr1a	T	C	6: 71,931,819 (GRCm39)	I966T	possibly damaging	Het
Prelid2	A	G	18: 42,045,433 (GRCm39)		probably null	Het
Rab29	T	A	1: 131,799,923 (GRCm39)	M166K	probably damaging	Het
Rab2b	T	C	14: 52,503,717 (GRCm39)	E135G	probably damaging	Het
Rnf103	T	A	6: 71,486,463 (GRCm39)	S365T	possibly damaging	Het
Rnf213	G	A	11: 119,301,687 (GRCm39)	E387K		Het
Sh3d19	T	C	3: 86,031,038 (GRCm39)	V734A	probably benign	Het
Spata31e5	T	A	1: 28,816,689 (GRCm39)	T448S	possibly damaging	Het
Spmip3	T	A	1: 177,570,828 (GRCm39)	I54K	probably damaging	Het
Ssbp1	T	G	6: 40,454,914 (GRCm39)	N124K	probably damaging	Het
Tbc1d31	C	T	15: 57,799,494 (GRCm39)	R227*	probably null	Het
Tcerg1	A	G	18: 42,657,039 (GRCm39)	T174A	unknown	Het
Tenm2	T	C	11: 35,960,388 (GRCm39)	S980G	possibly damaging	Het
Trim30a	T	C	7: 104,079,386 (GRCm39)	I156M	possibly damaging	Het
Trim39	T	C	17: 36,571,396 (GRCm39)	D454G	possibly damaging	Het
Trpc7	A	T	13: 56,921,579 (GRCm39)	*863K	probably null	Het
Tubgcp3	A	G	8: 12,707,561 (GRCm39)	Y143H	probably benign	Het
Vmn1r33	C	T	6: 66,589,357 (GRCm39)	D66N	probably benign	Het
Vmn2r8	A	T	5: 108,950,043 (GRCm39)	I268N	probably damaging	Het
Vmn2r91	A	C	17: 18,356,080 (GRCm39)	E582D	probably benign	Het
Vtcn1	T	C	3: 100,791,211 (GRCm39)	F83S	probably damaging	Het
Wdr81	G	T	11: 75,332,811 (GRCm39)	D684E		Het
Wipi1	A	G	11: 109,470,535 (GRCm39)	S295P	probably damaging	Het
Zfp27	A	T	7: 29,593,699 (GRCm39)	H755Q	possibly damaging	Het
Zfp963	A	G	8: 70,195,533 (GRCm39)	F307L	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
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'- TCTGCCAATGAGCATTTGGC -3'
(R):5'- TGTGGCACAACCTTTCTATCAGTC -3'

Sequencing Primer
(F):5'- GCATTTGGCTCTGGCATCTG -3'
(R):5'- TCTCAAAATAGCAGGAAATGTAGGTC -3'

Posted On

2019-11-26