Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03163:Ccdc36'

411504

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 #

IGL03163

Quality Score

Status

Chromosome

Chromosomal Location

108403611-108428484 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 108404933 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Isoleucine at position 519 (L519I)

Ref Sequence

ENSEMBL: ENSMUSP00000075898 (fasta)

Gene Model

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

AlphaFold

Q6PDM4

Predicted Effect

probably benign
Transcript: ENSMUST00000076592
AA Change: L519I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000075898
Gene: ENSMUSG00000047220
AA Change: L519I

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn1	T	A	12: 80,181,417	D393V	probably benign	Het
Amz2	C	A	11: 109,428,925	Q46K	probably benign	Het
Ankhd1	G	A	18: 36,647,628	R1911H	probably damaging	Het
Apba3	A	G	10: 81,269,223		probably null	Het
Atxn1l	T	C	8: 109,732,385	N415S	probably damaging	Het
Clu	C	T	14: 65,979,786	S356F	probably benign	Het
Cluh	T	C	11: 74,666,068	V1029A	probably benign	Het
Creb3	C	T	4: 43,566,315	L274F	probably damaging	Het
Cyhr1	A	T	15: 76,659,274	L13Q	probably damaging	Het
Dcaf8	T	C	1: 172,172,908	V211A	probably damaging	Het
Emilin3	G	A	2: 160,908,729	Q320*	probably null	Het
Fam131c	T	C	4: 141,382,758	F156L	probably damaging	Het
Fbxw21	T	A	9: 109,145,484	I323F	probably benign	Het
Fmo9	A	G	1: 166,674,450	V202A	possibly damaging	Het
Gipr	C	T	7: 19,162,556	W205*	probably null	Het
Gm13941	A	T	2: 111,098,416	I99K	unknown	Het
Gpr22	A	T	12: 31,709,172	V317E	possibly damaging	Het
Hace1	T	C	10: 45,672,605	I582T	probably damaging	Het
Khdrbs1	T	C	4: 129,725,715	E211G	probably benign	Het
Lonrf1	T	C	8: 36,230,330	D500G	probably benign	Het
Lrp2	A	C	2: 69,501,526	Y1628*	probably null	Het
Lrrc40	T	C	3: 158,041,587	I112T	possibly damaging	Het
Matr3	G	A	18: 35,572,591	D190N	probably damaging	Het
Olfr894	T	C	9: 38,219,414	V194A	probably benign	Het
Ptpn13	A	T	5: 103,591,346	D2326V	probably damaging	Het
Ptpn3	T	C	4: 57,222,020	D557G	probably damaging	Het
Rangap1	A	T	15: 81,716,600	N194K	probably damaging	Het
Rasgef1c	T	C	11: 49,971,373	V363A	possibly damaging	Het
Ric8b	A	G	10: 85,001,822	N498D	probably damaging	Het
Scn1a	A	C	2: 66,318,074	D22E	probably benign	Het
Spc25	T	G	2: 69,197,204	I115L	probably damaging	Het
Sspo	A	G	6: 48,484,332	H3569R	probably benign	Het
Stra6l	T	C	4: 45,881,455	I439T	probably benign	Het
Trappc12	G	T	12: 28,746,654	P293Q	probably damaging	Het
Trcg1	T	C	9: 57,248,347	L761P	possibly damaging	Het
Usp15	A	C	10: 123,171,144	M144R	probably damaging	Het
Vmn2r11	T	C	5: 109,053,826	I271V	probably benign	Het
Zcchc2	T	C	1: 106,031,111	V1104A	probably damaging	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
IGL02305:Ccdc36	APN	9	108405832	missense	possibly damaging	0.82
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
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

2016-08-02