Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02305:Ccdc36'

287555

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ccdc36

Ensembl Gene

ENSMUSG00000047220

Gene Name

coiled-coil domain containing 36

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

IGL02305

Quality Score

Status

Chromosome

Chromosomal Location

108403611-108428484 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 108405832 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 219 (M219K)

Ref Sequence

ENSEMBL: ENSMUSP00000075898 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076592] [ENSMUST00000192995]

AlphaFold

Q6PDM4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000076592
AA Change: M219K

PolyPhen 2 Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000075898
Gene: ENSMUSG00000047220
AA Change: M219K

Domain	Start	End	E-Value	Type
Pfam:DUF4700	19	572	4.7e-274	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000192995

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts16	G	A	13: 70,772,929	T599I	probably damaging	Het
Ahi1	A	G	10: 20,970,897	T409A	probably benign	Het
Apol10b	T	A	15: 77,585,430	R182S	possibly damaging	Het
Arhgap35	A	G	7: 16,563,665	F492L	probably benign	Het
Ccdc136	A	G	6: 29,406,174	D173G	probably damaging	Het
Ccndbp1	T	C	2: 121,011,452	L67P	probably damaging	Het
Dync2h1	C	T	9: 7,122,678	V2093I	probably benign	Het
Eps15l1	T	C	8: 72,387,009	K213R	probably null	Het
Fat4	A	T	3: 39,009,988	N4698Y	probably damaging	Het
Frmpd1	G	T	4: 45,249,209	R133L	probably damaging	Het
Gdi2	T	A	13: 3,556,428	M158K	probably damaging	Het
Hoxc8	A	G	15: 102,992,593	Y156C	probably damaging	Het
Kcnh2	T	C	5: 24,322,660	D898G	possibly damaging	Het
Kng2	T	C	16: 23,000,624		probably benign	Het
Men1	T	C	19: 6,340,138	L566P	probably damaging	Het
Mtmr2	T	C	9: 13,795,255	W153R	probably damaging	Het
Mug2	T	G	6: 122,036,056	L309R	probably benign	Het
Myo7a	A	G	7: 98,051,629	*2165R	probably null	Het
Ogfod2	T	C	5: 124,112,847		probably null	Het
Olfr44	A	T	9: 39,485,037	I72N	probably damaging	Het
Olfr912	C	T	9: 38,581,513	P79S	probably damaging	Het
Pard6g	T	C	18: 80,117,770	L366P	probably damaging	Het
Pdlim4	A	T	11: 54,055,933	L117H	probably damaging	Het
Pkd1l1	G	A	11: 8,902,467	A672V	probably benign	Het
Pomt2	A	G	12: 87,117,929		probably benign	Het
Prpf4	T	A	4: 62,415,396		probably benign	Het
Rad17	C	T	13: 100,633,862		probably null	Het
Ryr3	T	A	2: 112,645,277	I4499F	probably damaging	Het
Sav1	A	G	12: 69,986,776		probably benign	Het
Scube1	A	T	15: 83,607,390	F887I	probably damaging	Het
Slc5a6	T	C	5: 31,037,835	S473G	probably benign	Het
Taf1b	T	C	12: 24,544,271	S268P	possibly damaging	Het
Tmem135	A	T	7: 89,165,123		probably null	Het
Vmn2r104	A	T	17: 20,042,856	N114K	probably benign	Het
Ypel5	A	T	17: 72,848,596	Y53F	probably benign	Het
Zfp438	A	G	18: 5,213,674	V428A	possibly damaging	Het
Zzef1	T	C	11: 72,866,597		probably benign	Het

Other mutations in Ccdc36

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01956:Ccdc36	APN	9	108417319	splice site	probably benign
IGL02138:Ccdc36	APN	9	108406621	missense	probably benign	0.00
IGL02456:Ccdc36	APN	9	108406621	missense	probably benign	0.00
IGL02936:Ccdc36	APN	9	108412503	missense	possibly damaging	0.69
IGL03150:Ccdc36	APN	9	108404956	missense	probably damaging	0.98
IGL03163:Ccdc36	APN	9	108404933	missense	probably benign	0.00
IGL03280:Ccdc36	APN	9	108404900	missense	possibly damaging	0.92
R0139:Ccdc36	UTSW	9	108412496	missense	probably damaging	1.00
R0276:Ccdc36	UTSW	9	108428440	missense	possibly damaging	0.84
R0744:Ccdc36	UTSW	9	108404801	missense	probably benign
R0836:Ccdc36	UTSW	9	108404801	missense	probably benign
R1792:Ccdc36	UTSW	9	108404912	missense	possibly damaging	0.84
R1918:Ccdc36	UTSW	9	108412985	missense	probably benign	0.16
R2284:Ccdc36	UTSW	9	108421473	missense	probably damaging	1.00
R2401:Ccdc36	UTSW	9	108413006	missense	possibly damaging	0.53
R4731:Ccdc36	UTSW	9	108405385	missense	probably benign	0.00
R4819:Ccdc36	UTSW	9	108406678	missense	probably benign	0.10
R4950:Ccdc36	UTSW	9	108421510	missense	probably damaging	1.00
R4968:Ccdc36	UTSW	9	108412514	missense	probably benign	0.11
R7131:Ccdc36	UTSW	9	108417420	missense	probably benign	0.01
R7201:Ccdc36	UTSW	9	108404775	missense	probably damaging	0.98
R7950:Ccdc36	UTSW	9	108405671	missense	probably benign
R8778:Ccdc36	UTSW	9	108405608	missense	probably damaging	0.97
R9316:Ccdc36	UTSW	9	108421527	missense	possibly damaging	0.60
R9501:Ccdc36	UTSW	9	108405301	missense	probably benign	0.05

Posted On

2015-04-16