Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02936:Ccdc36'

364315

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 #

IGL02936

Quality Score

Status

Chromosome

Chromosomal Location

108403611-108428484 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 108412503 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 173 (I173M)

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: I173M

PolyPhen 2 Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000075898
Gene: ENSMUSG00000047220
AA Change: I173M

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	G	A	9: 57,258,404	T229I	possibly damaging	Het
Acad11	T	C	9: 104,113,512	S439P	probably benign	Het
Acer2	A	T	4: 86,900,559	N148I	possibly damaging	Het
Adgre1	A	G	17: 57,478,833	I860V	probably benign	Het
Asb2	A	G	12: 103,335,914	I125T	probably benign	Het
Atp13a2	G	T	4: 141,001,949	L614F	probably benign	Het
Car7	A	G	8: 104,548,222	T132A	possibly damaging	Het
Cfap221	T	C	1: 119,984,752	D135G	probably damaging	Het
Crtc3	A	G	7: 80,589,763	F614L	probably damaging	Het
Csn3	T	G	5: 87,930,133	I166S	possibly damaging	Het
Dna2	T	G	10: 62,957,100	L298R	probably damaging	Het
Ece1	T	C	4: 137,946,301	S387P	probably benign	Het
Fbxo28	C	T	1: 182,341,528	G15D	unknown	Het
Fbxw24	A	T	9: 109,624,958		probably null	Het
Foxd3	T	A	4: 99,656,815	V64E	probably benign	Het
Galnt7	A	C	8: 57,584,214	V47G	probably benign	Het
Gcc2	A	T	10: 58,296,140	L1453F	probably damaging	Het
Gcnt4	G	A	13: 96,946,411	V72I	probably benign	Het
Gm10269	A	C	18: 20,682,953		probably null	Het
Hmcn1	T	G	1: 150,697,522	Q2125H	probably damaging	Het
Llcfc1	T	A	6: 41,684,659	S48T	probably benign	Het
Met	G	T	6: 17,553,397	V1061F	probably damaging	Het
Mthfd2	G	A	6: 83,311,360	H138Y	probably damaging	Het
Mtus1	A	T	8: 40,999,517	D1041E	possibly damaging	Het
Mug2	G	A	6: 122,081,387		probably null	Het
Nos3	C	T	5: 24,380,993	T878I	probably damaging	Het
Olfr1211	A	G	2: 88,929,784	M177T	probably benign	Het
Olfr690	A	T	7: 105,330,005	Y62*	probably null	Het
Pbrm1	T	A	14: 31,061,513	V497D	probably damaging	Het
Plcd1	T	C	9: 119,074,199	E471G	probably damaging	Het
Poc1a	A	G	9: 106,285,027	T84A	probably damaging	Het
Ppm1f	A	G	16: 16,915,236	H209R	probably damaging	Het
Rccd1	T	A	7: 80,317,046	K329N	probably damaging	Het
Serpinb9g	A	T	13: 33,494,882	N245I	possibly damaging	Het
Slc22a26	A	C	19: 7,791,105	F196V	probably damaging	Het
Tial1	G	A	7: 128,442,663		probably benign	Het
Trpa1	A	T	1: 14,875,969		probably null	Het
Vmn1r15	A	T	6: 57,258,818	K224*	probably null	Het
Wdr72	A	T	9: 74,152,580	D424V	probably damaging	Het
Wt1	A	G	2: 105,169,039	K308E	probably damaging	Het
Zwint	T	C	10: 72,657,124	S193P	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
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

2015-12-18