Mutagenetix > Incidental Mutation

Incidental Mutation 'R4735:Ccdc168'

356408

Institutional Source

Beutler Lab

Gene Symbol

Ccdc168

Ensembl Gene

ENSMUSG00000091844

Gene Name

coiled-coil domain containing 168

Synonyms

Gm8251

MMRRC Submission

041962-MU

Accession Numbers

Essential gene?

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

Stock #

R4735 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

44095032-44118906 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 44100861 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 79 (I79T)

Ref Sequence

ENSEMBL: ENSMUSP00000127017 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000168641
AA Change: I79T

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

SMART Domains

Protein: ENSMUSP00000127017
Gene: ENSMUSG00000091844
AA Change: I79T

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: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 133 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	A	12: 71,262,897 (GRCm39)	I1410N	possibly damaging	Het
9230106D20Rik	T	C	10: 19,536,001 (GRCm39)		noncoding transcript	Het
Acsf3	T	A	8: 123,508,218 (GRCm39)	I238N	probably damaging	Het
Ahctf1	T	C	1: 179,580,964 (GRCm39)	N1746S	probably benign	Het
Akap3	T	C	6: 126,842,601 (GRCm39)	S407P	probably damaging	Het
Ankfy1	T	A	11: 72,621,437 (GRCm39)	M241K	probably benign	Het
Ano7	C	A	1: 93,328,216 (GRCm39)	T622K	probably benign	Het
App	T	C	16: 84,900,202 (GRCm39)	T83A	probably damaging	Het
Arhgef28	T	A	13: 98,036,237 (GRCm39)	E1674V	probably damaging	Het
Asb2	C	A	12: 103,291,317 (GRCm39)	V489L	probably benign	Het
Atrn	T	C	2: 130,862,910 (GRCm39)	V1330A	probably benign	Het
Bltp1	T	A	3: 37,059,116 (GRCm39)	N3267K	possibly damaging	Het
Brca1	A	G	11: 101,383,001 (GRCm39)		probably null	Het
Bspry	G	A	4: 62,404,762 (GRCm39)	R186Q	probably damaging	Het
Cdkn2d	C	G	9: 21,202,185 (GRCm39)	V21L	probably benign	Het
Celsr1	T	A	15: 85,790,230 (GRCm39)		probably null	Het
Ckap4	A	G	10: 84,369,384 (GRCm39)	V116A	possibly damaging	Het
Crb3	A	G	17: 57,372,207 (GRCm39)	T85A	probably damaging	Het
Cyld	T	C	8: 89,456,278 (GRCm39)	S443P	probably damaging	Het
Cyp27a1	T	G	1: 74,776,366 (GRCm39)	V434G	possibly damaging	Het
Cyp2b13	A	G	7: 25,787,720 (GRCm39)	T339A	probably benign	Het
Dars1	A	T	1: 128,303,971 (GRCm39)	L252*	probably null	Het
Dcaf10	G	A	4: 45,372,769 (GRCm39)	R394Q	possibly damaging	Het
Ddx55	T	C	5: 124,704,539 (GRCm39)	F382S	probably damaging	Het
Dmtf1l	T	A	X: 125,722,217 (GRCm39)	K296M	probably damaging	Het
Dnah7b	G	A	1: 46,106,115 (GRCm39)	R33Q	unknown	Het
Dnm2	G	T	9: 21,385,883 (GRCm39)	S302I	probably damaging	Het
Dock4	T	A	12: 40,681,525 (GRCm39)	F75I	probably benign	Het
Dpp10	T	C	1: 123,326,356 (GRCm39)	N365S	probably benign	Het
Dpy19l3	G	T	7: 35,422,146 (GRCm39)	Q236K	probably benign	Het
Dsp	T	C	13: 38,380,016 (GRCm39)	S1655P	probably damaging	Het
Ebpl	A	T	14: 61,579,567 (GRCm39)	I117N	probably damaging	Het
Edc4	T	A	8: 106,613,818 (GRCm39)	V386E	probably damaging	Het
Eif2s2	T	A	2: 154,720,467 (GRCm39)		probably null	Het
Elob	A	T	17: 24,046,562 (GRCm39)		probably null	Het
Enox2	T	C	X: 48,158,554 (GRCm39)	I71V	probably damaging	Het
Fez1	A	T	9: 36,772,141 (GRCm39)	K149*	probably null	Het
Fhip2a	A	G	19: 57,359,661 (GRCm39)	E67G	probably damaging	Het
Fign	A	G	2: 63,810,782 (GRCm39)	Y163H	probably damaging	Het
Flnc	G	A	6: 29,455,812 (GRCm39)	G2048S	probably damaging	Het
Fras1	A	G	5: 96,736,022 (GRCm39)	D539G	probably benign	Het
Frmd4b	T	C	6: 97,436,220 (GRCm39)		probably benign	Het
Gan	C	T	8: 117,920,970 (GRCm39)	T402M	probably damaging	Het
Ganc	T	A	2: 120,267,104 (GRCm39)		silent	Het
Ggt6	C	A	11: 72,327,425 (GRCm39)	R103S	probably benign	Het
Gli2	T	C	1: 118,768,052 (GRCm39)	D725G	probably damaging	Het
Gm15446	T	A	5: 110,090,818 (GRCm39)	C357S	probably damaging	Het
Gm44501	A	G	17: 40,889,810 (GRCm39)	N108S	probably benign	Het
Gm6309	A	T	5: 146,105,054 (GRCm39)	D286E	probably damaging	Het
Gm6358	G	A	16: 88,937,848 (GRCm39)	G29E	unknown	Het
Grik5	A	G	7: 24,757,713 (GRCm39)	I422T	probably damaging	Het
Grin2c	A	G	11: 115,140,422 (GRCm39)	I1232T	possibly damaging	Het
Gsg1	C	T	6: 135,214,405 (GRCm39)	R365H	possibly damaging	Het
H2-M2	A	G	17: 37,794,135 (GRCm39)	S30P	possibly damaging	Het
Hcfc2	A	G	10: 82,547,914 (GRCm39)	D302G	probably damaging	Het
Hk2	T	C	6: 82,721,955 (GRCm39)	D128G	probably benign	Het
Hmcn2	C	A	2: 31,273,787 (GRCm39)	Q1380K	probably benign	Het
Hsp90b1	G	T	10: 86,529,819 (GRCm39)	P617T	probably damaging	Het
Htr1d	A	G	4: 136,170,197 (GRCm39)	E142G	probably benign	Het
Hydin	G	A	8: 111,282,264 (GRCm39)		probably null	Het
Il1r1	T	A	1: 40,332,455 (GRCm39)	N81K	probably benign	Het
Inpp5b	T	C	4: 124,677,760 (GRCm39)	S407P	probably damaging	Het
Itpkb	T	C	1: 180,245,780 (GRCm39)	Y766H	probably damaging	Het
Lyrm2	T	A	4: 32,801,150 (GRCm39)	I65N	probably damaging	Het
Mink1	T	A	11: 70,500,086 (GRCm39)		probably null	Het
Mkrn3	C	T	7: 62,069,452 (GRCm39)	R113H	probably damaging	Het
Msx3	G	A	7: 139,627,798 (GRCm39)	A157V	probably damaging	Het
Nrxn2	T	G	19: 6,548,484 (GRCm39)	V59G	possibly damaging	Het
Nt5c3b	T	C	11: 100,331,732 (GRCm39)	T12A	probably benign	Het
Nwd2	G	A	5: 63,965,594 (GRCm39)	R1726Q	probably benign	Het
Nynrin	A	G	14: 56,107,625 (GRCm39)	T911A	probably benign	Het
Or11i1	T	A	3: 106,728,996 (GRCm39)	Y293F	probably damaging	Het
Or4p18	T	C	2: 88,233,267 (GRCm39)	T4A	probably benign	Het
Or51aa5	A	G	7: 103,167,030 (GRCm39)	I187T	possibly damaging	Het
Or51af1	C	T	7: 103,141,267 (GRCm39)	V273M	possibly damaging	Het
Or52n20	C	T	7: 104,320,200 (GRCm39)	T97I	probably benign	Het
Or5p66	A	G	7: 107,885,520 (GRCm39)	M271T	probably benign	Het
Or6c212	A	G	10: 129,558,792 (GRCm39)	I207T	probably benign	Het
Patl1	G	T	19: 11,899,869 (GRCm39)	M220I	probably benign	Het
Pcnx2	A	T	8: 126,554,780 (GRCm39)		probably null	Het
Pigr	A	T	1: 130,774,291 (GRCm39)	T424S	probably damaging	Het
Pik3c2b	T	A	1: 132,994,787 (GRCm39)	D250E	probably benign	Het
Ppa2	G	A	3: 133,076,186 (GRCm39)	E272K	probably benign	Het
Pramel7	G	A	2: 87,321,187 (GRCm39)	Q283*	probably null	Het
Prelid3b	A	G	2: 174,307,683 (GRCm39)	I81T	probably benign	Het
Prpf38a	T	C	4: 108,436,242 (GRCm39)	I24V	possibly damaging	Het
Ptger2	A	G	14: 45,239,295 (GRCm39)	D311G	possibly damaging	Het
Rab4b	A	T	7: 26,872,191 (GRCm39)		probably benign	Het
Rad17	A	C	13: 100,755,637 (GRCm39)	D581E	probably damaging	Het
Samd11	T	C	4: 156,333,230 (GRCm39)	T333A	probably benign	Het
Scaf4	C	T	16: 90,049,320 (GRCm39)	D256N	unknown	Het
Serinc2	A	G	4: 130,157,438 (GRCm39)	F82L	probably benign	Het
Serpina3g	T	A	12: 104,205,372 (GRCm39)	V37E	probably damaging	Het
Serpinb9c	T	A	13: 33,334,254 (GRCm39)	M263L	probably benign	Het
Shbg	A	G	11: 69,508,326 (GRCm39)	I67T	possibly damaging	Het
Slc25a48	G	A	13: 56,596,887 (GRCm39)		probably null	Het
Slc25a54	T	C	3: 109,005,923 (GRCm39)	W144R	probably damaging	Het
Slc34a1	A	T	13: 55,561,397 (GRCm39)	T621S	probably benign	Het
Slc6a18	A	T	13: 73,814,554 (GRCm39)	C419S	probably benign	Het
Smc5	A	T	19: 23,220,069 (GRCm39)	D389E	probably benign	Het
Smco3	T	A	6: 136,808,636 (GRCm39)	E79D	probably damaging	Het
Sox5	A	G	6: 143,906,561 (GRCm39)	F298S	probably damaging	Het
Sphkap	A	G	1: 83,256,838 (GRCm39)	S304P	probably benign	Het
Tcea2	C	T	2: 181,328,514 (GRCm39)	T211I	probably damaging	Het
Tcf4	G	T	18: 69,697,226 (GRCm39)	S34I	possibly damaging	Het
Tlr4	C	T	4: 66,759,435 (GRCm39)	R743C	probably damaging	Het
Tmem183a	T	C	1: 134,288,620 (GRCm39)	E67G	probably damaging	Het
Tpr	C	T	1: 150,317,947 (GRCm39)	R2152C	possibly damaging	Het
Trbv15	T	C	6: 41,118,358 (GRCm39)	I38T	probably benign	Het
Treh	G	A	9: 44,592,849 (GRCm39)	A125T	probably damaging	Het
Trio	A	T	15: 27,752,875 (GRCm39)		probably null	Het
Ttn	A	G	2: 76,782,293 (GRCm39)	V981A	probably damaging	Het
Uap1l1	A	G	2: 25,252,732 (GRCm39)	L436P	probably damaging	Het
Uba7	A	T	9: 107,854,115 (GRCm39)	I182F	possibly damaging	Het
Unc13c	A	T	9: 73,600,620 (GRCm39)	S1375T	probably benign	Het
Usp48	C	CT	4: 137,360,680 (GRCm39)		probably null	Het
Utp20	A	C	10: 88,652,780 (GRCm39)	V378G	possibly damaging	Het
Vmn1r69	A	T	7: 10,314,926 (GRCm39)		probably benign	Het
Vmn1r86	A	T	7: 12,836,221 (GRCm39)	H218Q	probably damaging	Het
Vmn2r121	T	A	X: 123,038,335 (GRCm39)	I562L	probably benign	Het
Vmn2r45	A	T	7: 8,486,472 (GRCm39)	I272N	probably damaging	Het
Wdr90	A	G	17: 26,078,424 (GRCm39)	V320A	probably benign	Het
Wfikkn1	A	G	17: 26,097,367 (GRCm39)	V319A	possibly damaging	Het
Whamm	A	G	7: 81,221,122 (GRCm39)	D18G	probably benign	Het
Wrn	T	A	8: 33,775,250 (GRCm39)	I605F	probably damaging	Het
Zdhhc18	A	G	4: 133,341,178 (GRCm39)	F232L	probably damaging	Het
Zfp41	T	C	15: 75,490,609 (GRCm39)	I187T	probably benign	Het
Zfp418	A	G	7: 7,185,561 (GRCm39)	Y508C	probably damaging	Het
Zfp560	T	G	9: 20,260,347 (GRCm39)	I172L	probably benign	Het
Zfp943	A	T	17: 22,211,391 (GRCm39)	D159V	probably benign	Het
Zfp955a	T	C	17: 33,460,696 (GRCm39)	I479V	probably benign	Het
Zfpm1	T	A	8: 123,062,219 (GRCm39)	V426D	probably benign	Het
Zic1	C	T	9: 91,246,558 (GRCm39)	M171I	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
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
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'- AAGGAGGTGCAGATATCTTCG -3'
(R):5'- CGGCCAAACATGTGAACAGG -3'

Sequencing Primer
(F):5'- CGTCATGAAAATTGGGCCTC -3'
(R):5'- GGAAGAAATCACCCCTTTCATGTG -3'

Posted On

2015-11-11