Mutagenetix > Incidental Mutation

Incidental Mutation 'R2284:Ccdc36'

243248

Institutional Source

Beutler Lab

Gene Symbol

Ccdc36

Ensembl Gene

ENSMUSG00000047220

Gene Name

coiled-coil domain containing 36

Synonyms

MMRRC Submission

040283-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R2284 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

108403611-108428484 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 108421473 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 49 (E49K)

Ref Sequence

ENSEMBL: ENSMUSP00000075898 (fasta)

Gene Model

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

AlphaFold

Q6PDM4

Predicted Effect

probably damaging
Transcript: ENSMUST00000076592
AA Change: E49K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000075898
Gene: ENSMUSG00000047220
AA Change: E49K

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

Meta Mutation Damage Score

0.4538

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

100% (32/32)

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adipoq	C	T	16: 23,157,487	Q213*	probably null	Het
Adsl	C	T	15: 80,963,895	P278L	probably damaging	Het
Bcas2	T	C	3: 103,178,362	S187P	probably damaging	Het
Ccdc88a	T	C	11: 29,494,099		probably null	Het
Cryzl1	C	T	16: 91,694,305		probably benign	Het
Csl	T	A	10: 99,758,459	D248V	possibly damaging	Het
Dip2a	A	C	10: 76,313,193	V247G	probably benign	Het
Fat2	T	C	11: 55,282,360	D2509G	probably damaging	Het
Gldn	G	A	9: 54,286,565	W14*	probably null	Het
Gm5698	C	T	1: 30,977,883	R29Q	possibly damaging	Het
Gm5830	A	T	1: 78,967,698		noncoding transcript	Het
Gtf2ird2	A	G	5: 134,217,183	D761G	probably benign	Het
Hdac10	T	C	15: 89,127,404	Q159R	probably benign	Het
Hhatl	T	C	9: 121,789,582	Y118C	probably damaging	Het
Klrd1	A	G	6: 129,598,381	H127R	probably benign	Het
Krtap31-1	C	T	11: 99,908,255	Q95*	probably null	Het
Map2	C	T	1: 66,414,068	P548S	probably damaging	Het
Mki67	A	G	7: 135,699,945	V1120A	probably damaging	Het
Mslnl	G	A	17: 25,742,934	V128M	probably damaging	Het
Mtmr12	T	A	15: 12,245,011	M204K	probably damaging	Het
Muc6	T	C	7: 141,637,924	T2279A	possibly damaging	Het
Naip6	C	T	13: 100,300,600	A472T	probably benign	Het
Nlrp1b	A	G	11: 71,156,284	S1084P	probably benign	Het
Nr2f1	C	A	13: 78,195,462	V81F	probably damaging	Het
Nrxn3	T	A	12: 89,510,365	N803K	probably damaging	Het
Olfr1157	A	G	2: 87,962,793	L33P	probably damaging	Het
Ptpre	A	G	7: 135,669,781	H375R	probably benign	Het
Tsc1	G	A	2: 28,665,097	V200I	possibly damaging	Het
Vmn1r42	A	G	6: 89,844,699	I296T	probably benign	Het
Vmn1r67	A	T	7: 10,447,673	H288L	probably damaging	Het
Vmn2r45	A	T	7: 8,485,766	N88K	probably benign	Het
Wt1	A	G	2: 105,172,321	T511A	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
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
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
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

Predicted Primers

PCR Primer
(F):5'- TCAAGCACAAACCCATTTAGGATAG -3'
(R):5'- ATCTTCTGAAGTCGTAGCTGTG -3'

Sequencing Primer
(F):5'- CTGTAATTCCAACAATCAGGAGGCTG -3'
(R):5'- AAGTCGTAGCTGTGAGTTATGAG -3'

Posted On

2014-10-16