Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01721:Ccdc185'

105115

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: 0.060) question?

Stock #

IGL01721

Quality Score

Status

Chromosome

Chromosomal Location

182574691-182576745 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 182576543 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 49 (E49K)

Ref Sequence

ENSEMBL: ENSMUSP00000095053 (fasta)

Gene Model

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

AlphaFold

Q3V118

Predicted Effect

possibly damaging
Transcript: ENSMUST00000060041
AA Change: E49K

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000095053
Gene: ENSMUSG00000043429
AA Change: E49K

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700088E04Rik	T	C	15: 79,023,453 (GRCm39)	M51V	possibly damaging	Het
Acad8	A	G	9: 26,903,563 (GRCm39)		probably benign	Het
Atp2a2	A	G	5: 122,638,855 (GRCm39)	V53A	possibly damaging	Het
Bicra	T	C	7: 15,722,624 (GRCm39)	T298A	probably benign	Het
Cfhr2	A	G	1: 139,741,352 (GRCm39)	S208P	probably benign	Het
Chd1	T	C	17: 15,990,430 (GRCm39)	Y1661H	probably damaging	Het
Cntnap5a	A	G	1: 116,085,367 (GRCm39)	H435R	probably benign	Het
Cog8	A	G	8: 107,780,697 (GRCm39)	V187A	probably benign	Het
Col24a1	A	G	3: 145,244,322 (GRCm39)	H1532R	probably benign	Het
Dpp6	A	G	5: 27,836,518 (GRCm39)	Y336C	probably damaging	Het
Drosha	T	A	15: 12,846,198 (GRCm39)	Y444*	probably null	Het
Egf	A	T	3: 129,491,371 (GRCm39)	C374*	probably null	Het
Eif2b3	C	T	4: 116,916,001 (GRCm39)	H203Y	probably damaging	Het
Erbb4	A	G	1: 68,293,722 (GRCm39)	V723A	possibly damaging	Het
Fbxo21	T	C	5: 118,126,855 (GRCm39)	I202T	probably benign	Het
Gbp6	T	C	5: 105,422,073 (GRCm39)	M544V	probably benign	Het
Gm10750	T	C	2: 148,857,964 (GRCm39)	T96A	unknown	Het
Gm8232	A	T	14: 44,674,640 (GRCm39)		probably null	Het
Gpi-ps	A	T	8: 5,689,896 (GRCm39)		noncoding transcript	Het
Gsdma3	T	C	11: 98,528,782 (GRCm39)	V412A	possibly damaging	Het
Hs6st1	A	T	1: 36,108,016 (GRCm39)	H93L	probably damaging	Het
Hsf2	G	A	10: 57,372,277 (GRCm39)	E77K	probably benign	Het
Ing3	T	A	6: 21,968,879 (GRCm39)		probably benign	Het
Ints6	T	C	14: 62,951,188 (GRCm39)	I280M	probably damaging	Het
Kazn	C	A	4: 141,886,354 (GRCm39)		probably null	Het
Klhl20	T	C	1: 160,923,157 (GRCm39)	Y13C	probably damaging	Het
Krtap26-1	G	A	16: 88,444,060 (GRCm39)	P187L	probably damaging	Het
Mga	T	A	2: 119,765,720 (GRCm39)	I1329K	probably damaging	Het
Mindy4	A	G	6: 55,200,984 (GRCm39)	D223G	probably damaging	Het
Ncor2	T	C	5: 125,128,001 (GRCm39)	E124G	probably damaging	Het
Nfat5	G	A	8: 108,071,611 (GRCm39)		probably null	Het
Nkain1	A	G	4: 130,532,134 (GRCm38)	F184L	probably benign	Het
Or8k25	T	C	2: 86,243,677 (GRCm39)	T240A	probably damaging	Het
Rars1	A	T	11: 35,719,491 (GRCm39)	F110L	probably damaging	Het
Rfx6	A	C	10: 51,599,173 (GRCm39)	K509N	probably damaging	Het
Serpinb2	T	C	1: 107,443,333 (GRCm39)	L44P	probably damaging	Het
Sin3a	G	A	9: 57,002,609 (GRCm39)	R167Q	probably damaging	Het
Sos2	T	A	12: 69,650,641 (GRCm39)	T809S	probably damaging	Het
Stard9	A	G	2: 120,533,811 (GRCm39)	E3356G	probably damaging	Het
Vmn1r52	A	G	6: 90,155,905 (GRCm39)	T70A	probably benign	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
IGL01121:Ccdc185	APN	1	182,576,222 (GRCm39)	missense	probably benign	0.33
IGL01143:Ccdc185	APN	1	182,575,417 (GRCm39)	missense	probably damaging	0.98
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

2014-01-21