Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01121:Ccdc185'

50303

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ccdc185

Ensembl Gene

ENSMUSG00000043429

Gene Name

coiled-coil domain containing 185

Synonyms

4922505E12Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

IGL01121

Quality Score

Status

Chromosome

Chromosomal Location

182574691-182576745 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 182576222 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 156 (V156I)

Ref Sequence

ENSEMBL: ENSMUSP00000095053 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060041]

AlphaFold

Q3V118

Predicted Effect

probably benign
Transcript: ENSMUST00000060041
AA Change: V156I

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000095053
Gene: ENSMUSG00000043429
AA Change: V156I

Domain	Start	End	E-Value	Type
low complexity region	117	131	N/A	INTRINSIC
Pfam:DUF4659	239	618	3.2e-119	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700046A07Rik	G	A	18: 62,888,219 (GRCm39)		noncoding transcript	Het
4930432E11Rik	A	T	7: 29,273,426 (GRCm39)		noncoding transcript	Het
Alg3	T	C	16: 20,429,397 (GRCm39)	E31G	probably damaging	Het
Arhgap29	A	G	3: 121,803,512 (GRCm39)	E764G	probably damaging	Het
Atp5mf	C	A	5: 145,121,378 (GRCm39)	V68L	probably benign	Het
Birc6	T	A	17: 74,938,033 (GRCm39)	I2645K	probably benign	Het
Capn11	A	G	17: 45,950,058 (GRCm39)	S369P	probably benign	Het
Car4	A	T	11: 84,855,172 (GRCm39)		probably null	Het
Cpsf2	G	T	12: 101,954,965 (GRCm39)	E245D	probably damaging	Het
Dnah11	T	C	12: 118,014,430 (GRCm39)	D2019G	probably benign	Het
Dscc1	A	G	15: 54,945,721 (GRCm39)		probably benign	Het
Dzip3	T	C	16: 48,765,244 (GRCm39)	D490G	probably benign	Het
E2f8	G	A	7: 48,517,569 (GRCm39)	Q745*	probably null	Het
Fat3	T	A	9: 15,909,697 (GRCm39)	T2102S	probably benign	Het
Fgf7	C	T	2: 125,930,152 (GRCm39)		probably benign	Het
Fstl4	T	C	11: 52,705,464 (GRCm39)	F47L	probably benign	Het
Gm15097	A	T	X: 148,587,324 (GRCm39)	R129S	possibly damaging	Het
Gm4297	C	T	X: 24,418,854 (GRCm39)	D200N	probably benign	Het
Itgb5	G	T	16: 33,740,359 (GRCm39)	D490Y	probably benign	Het
Kansl1	A	G	11: 104,226,422 (GRCm39)	S912P	probably benign	Het
Kcnq3	A	T	15: 65,877,826 (GRCm39)		probably benign	Het
Kctd6	A	G	14: 8,222,656 (GRCm38)	H166R	possibly damaging	Het
Kel	T	C	6: 41,679,343 (GRCm39)	D140G	probably benign	Het
Lrif1	C	A	3: 106,642,980 (GRCm39)	S177*	probably null	Het
Lrp1	A	T	10: 127,419,722 (GRCm39)	C962*	probably null	Het
Lypd5	A	T	7: 24,050,976 (GRCm39)	Y29F	probably benign	Het
Mmrn1	A	G	6: 60,952,928 (GRCm39)	D403G	possibly damaging	Het
Nhsl1	T	G	10: 18,387,458 (GRCm39)	V244G	probably damaging	Het
Or6c35	T	C	10: 129,168,804 (GRCm39)	I18T	probably benign	Het
Ptprd	A	T	4: 75,872,438 (GRCm39)		probably benign	Het
Rcan2	A	T	17: 44,328,775 (GRCm39)	I69L	probably damaging	Het
Rprd2	A	G	3: 95,683,862 (GRCm39)	L373P	probably damaging	Het
Slc10a4	T	C	5: 73,164,929 (GRCm39)	C174R	probably damaging	Het
Tas2r134	C	T	2: 51,518,001 (GRCm39)	T160I	probably damaging	Het
Tbc1d19	T	A	5: 54,054,404 (GRCm39)	L464*	probably null	Het
Tmem45a2	C	T	16: 56,861,153 (GRCm39)	D225N	possibly damaging	Het
Unc79	G	A	12: 103,131,890 (GRCm39)	C2139Y	probably damaging	Het
Vmn2r101	G	T	17: 19,809,936 (GRCm39)	G241C	probably damaging	Het
Vmn2r91	T	C	17: 18,356,766 (GRCm39)	V811A	possibly damaging	Het
Wdr11	T	C	7: 129,229,746 (GRCm39)	Y844H	probably benign	Het
Wdr70	T	C	15: 7,902,655 (GRCm39)	K656E	possibly damaging	Het
Zfp579	C	A	7: 4,996,246 (GRCm39)	C555F	possibly damaging	Het

Other mutations in Ccdc185

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01024:Ccdc185	APN	1	182,574,988 (GRCm39)	missense	possibly damaging	0.85
IGL01143:Ccdc185	APN	1	182,575,417 (GRCm39)	missense	probably damaging	0.98
IGL01721:Ccdc185	APN	1	182,576,543 (GRCm39)	missense	possibly damaging	0.53
IGL01941:Ccdc185	APN	1	182,575,769 (GRCm39)	missense	probably benign	0.32
IGL01945:Ccdc185	APN	1	182,576,441 (GRCm39)	missense	probably benign	0.33
IGL03333:Ccdc185	APN	1	182,576,398 (GRCm39)	missense	probably damaging	1.00
Ratas	UTSW	1	182,576,582 (GRCm39)	missense	possibly damaging	0.73
Ratones	UTSW	1	182,575,085 (GRCm39)	missense	possibly damaging	0.52
R0486:Ccdc185	UTSW	1	182,575,424 (GRCm39)	missense	possibly damaging	0.86
R0653:Ccdc185	UTSW	1	182,575,129 (GRCm39)	missense	possibly damaging	0.52
R1263:Ccdc185	UTSW	1	182,574,918 (GRCm39)	nonsense	probably null
R1450:Ccdc185	UTSW	1	182,575,129 (GRCm39)	missense	possibly damaging	0.71
R1464:Ccdc185	UTSW	1	182,576,263 (GRCm39)	missense	probably benign
R1464:Ccdc185	UTSW	1	182,576,263 (GRCm39)	missense	probably benign
R2146:Ccdc185	UTSW	1	182,575,085 (GRCm39)	missense	possibly damaging	0.52
R3409:Ccdc185	UTSW	1	182,576,313 (GRCm39)	missense	possibly damaging	0.73
R3410:Ccdc185	UTSW	1	182,576,313 (GRCm39)	missense	possibly damaging	0.73
R3765:Ccdc185	UTSW	1	182,575,117 (GRCm39)	missense	possibly damaging	0.71
R4012:Ccdc185	UTSW	1	182,576,453 (GRCm39)	missense	possibly damaging	0.91
R4953:Ccdc185	UTSW	1	182,576,582 (GRCm39)	missense	possibly damaging	0.73
R5096:Ccdc185	UTSW	1	182,576,354 (GRCm39)	missense	possibly damaging	0.73
R5166:Ccdc185	UTSW	1	182,576,564 (GRCm39)	nonsense	probably null
R5300:Ccdc185	UTSW	1	182,575,645 (GRCm39)	missense	probably benign	0.00
R5504:Ccdc185	UTSW	1	182,575,192 (GRCm39)	missense	probably damaging	0.97
R5863:Ccdc185	UTSW	1	182,576,122 (GRCm39)	missense	possibly damaging	0.53
R5928:Ccdc185	UTSW	1	182,575,047 (GRCm39)	missense	probably benign	0.00
R7127:Ccdc185	UTSW	1	182,576,421 (GRCm39)	missense	possibly damaging	0.70
R8125:Ccdc185	UTSW	1	182,574,835 (GRCm39)	missense	probably benign	0.10
R8197:Ccdc185	UTSW	1	182,576,324 (GRCm39)	missense	possibly damaging	0.93
R9248:Ccdc185	UTSW	1	182,576,221 (GRCm39)	missense	probably benign	0.33
Z1177:Ccdc185	UTSW	1	182,576,079 (GRCm39)	missense	possibly damaging	0.72

Posted On

2013-06-21