Mutagenetix > Incidental Mutation

Incidental Mutation 'R8778:Ccdc36'

670125

Institutional Source

Beutler Lab

Gene Symbol

Ccdc36

Ensembl Gene

ENSMUSG00000047220

Gene Name

coiled-coil domain containing 36

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

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

Stock #

R8778 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

108403611-108428484 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 108405608 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 294 (S294P)

Ref Sequence

ENSEMBL: ENSMUSP00000075898 (fasta)

Gene Model

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

AlphaFold

Q6PDM4

Predicted Effect

probably damaging
Transcript: ENSMUST00000076592
AA Change: S294P

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000075898
Gene: ENSMUSG00000047220
AA Change: S294P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000192995

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

98% (48/49)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930444G20Rik	T	A	10: 22,067,457	E208V	probably damaging	Het
6720489N17Rik	T	C	13: 62,605,355	K73E	possibly damaging	Het
A430033K04Rik	T	A	5: 138,646,887	C345S	possibly damaging	Het
Acod1	A	G	14: 103,055,482	T481A	probably benign	Het
Adamtsl1	T	C	4: 85,514,450	V5A	probably benign	Het
Ahnak2	T	A	12: 112,783,158	Q1023L		Het
Akt1	C	T	12: 112,658,668	E149K	probably benign	Het
Arhgap10	T	C	8: 77,413,611	E240G	probably damaging	Het
Asap1	G	A	15: 64,127,409	P516S	probably benign	Het
Ccdc88c	T	C	12: 100,945,224	R784G	probably benign	Het
Cep290	T	A	10: 100,514,512	L656*	probably null	Het
Chd2	A	C	7: 73,429,735	S1806A	possibly damaging	Het
Cyp4f15	G	T	17: 32,702,404	A475S	probably damaging	Het
Dnah12	A	G	14: 26,734,563	T814A	probably benign	Het
Dnah8	CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT	CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT	17: 30,760,867		probably null	Het
Eif4g1	G	A	16: 20,673,446		probably benign	Het
Entpd8	G	A	2: 25,081,846	V9I	probably benign	Het
Frmd4a	C	T	2: 4,473,215	T65M	probably damaging	Het
Gabrr2	T	C	4: 33,095,517	Y469H	probably damaging	Het
Gjd3	T	C	11: 98,983,016	M1V	probably null	Het
Golga7	T	C	8: 23,245,928	N101D	possibly damaging	Het
Hebp1	A	G	6: 135,168,070	F10L	probably benign	Het
Hs3st3a1	T	A	11: 64,436,425	V120E	probably benign	Het
Idh1	CA	CAA	1: 65,165,188		probably null	Het
Inhbc	A	G	10: 127,357,824	S108P	probably damaging	Het
Itgbl1	T	A	14: 123,840,663	D188E	probably benign	Het
Lmo7	T	G	14: 101,912,067	S1091A	probably damaging	Het
Lmo7	T	C	14: 101,919,219	V1275A	probably benign	Het
Lrrc25	T	G	8: 70,617,592	L8V	possibly damaging	Het
Lyst	T	C	13: 13,635,776	I677T	possibly damaging	Het
Lyst	A	G	13: 13,728,567	N3174S	possibly damaging	Het
Mgst3	C	T	1: 167,375,463	V80I	probably benign	Het
Mtmr12	A	G	15: 12,269,920	N698S	probably benign	Het
Myo18a	A	G	11: 77,823,324	Y748C	probably damaging	Het
Myoz2	T	C	3: 123,006,507	N224S	possibly damaging	Het
Nebl	T	C	2: 17,404,267	Y340C	probably damaging	Het
Olfr63	T	C	17: 33,269,446	S241P	probably damaging	Het
Pcdha9	G	T	18: 36,999,191	V438L	possibly damaging	Het
Pramef12	T	C	4: 144,392,896	D367G	probably damaging	Het
Sfrp2	T	G	3: 83,766,786	L82R	probably damaging	Het
Spata7	T	A	12: 98,658,556	L239Q	probably damaging	Het
Syncrip	A	T	9: 88,456,241	I590N	unknown	Het
Syne1	T	C	10: 5,359,066	T648A	probably benign	Het
Tmc5	A	G	7: 118,623,593	Y172C	unknown	Het
Trim30a	A	T	7: 104,411,565	Y335N	probably benign	Het
Trmt10c	A	G	16: 56,035,009	S88P	probably benign	Het
Trpc3	T	C	3: 36,670,921	E302G	probably damaging	Het
Ttn	T	C	2: 76,761,236	T21030A	possibly damaging	Het
Uba6	G	T	5: 86,112,697	P1039T	possibly damaging	Het
Vmn2r75	A	T	7: 86,164,289	I435N	probably benign	Het
Zkscan5	T	C	5: 145,218,332	V271A	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
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
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'- ACGCTTCTGGTGGTCATGAC -3'
(R):5'- AGAACTTGCAGCAGTTTTGTGAC -3'

Sequencing Primer
(F):5'- GTCATGACCCAGTTCTTGCAGTAAG -3'
(R):5'- TTTGTGACAACCTGAGCCAG -3'

Posted On

2021-04-30