Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03280:Ccdc36'

415562

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: 0.076) question?

Stock #

IGL03280

Quality Score

Status

Chromosome

Chromosomal Location

108403611-108428484 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 108404900 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 530 (S530G)

Ref Sequence

ENSEMBL: ENSMUSP00000075898 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000076592
AA Change: S530G

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000075898
Gene: ENSMUSG00000047220
AA Change: S530G

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Asb4	T	C	6: 5,423,416	S188P	probably benign	Het
Bbs5	A	G	2: 69,666,971		probably benign	Het
Cdh13	G	T	8: 119,314,134	G693W	probably damaging	Het
Cdh7	T	A	1: 110,108,768	Y559*	probably null	Het
Cemip	G	A	7: 83,987,330		probably benign	Het
Crem	A	G	18: 3,273,415		probably benign	Het
Crygf	A	G	1: 65,928,170	Y151C	probably damaging	Het
Dcp1b	T	C	6: 119,180,058		probably benign	Het
Fanca	A	G	8: 123,316,459		probably benign	Het
Fkbp15	A	C	4: 62,303,267		probably benign	Het
Gabrp	C	T	11: 33,552,616	R416Q	probably benign	Het
Gm13103	A	T	4: 143,851,919	T250S	possibly damaging	Het
Impg2	T	A	16: 56,268,268	Y1052*	probably null	Het
Isg15	T	C	4: 156,199,862	M70V	probably benign	Het
Krit1	T	A	5: 3,811,248		probably benign	Het
Lrrn3	T	C	12: 41,454,147	D57G	probably damaging	Het
Macrod1	A	G	19: 7,197,572	E309G	possibly damaging	Het
Notch1	A	T	2: 26,477,874		probably benign	Het
Nptx1	T	C	11: 119,544,729	T254A	probably damaging	Het
Olfr1121	A	T	2: 87,372,123	D197V	probably damaging	Het
Pigm	A	G	1: 172,376,853	Y52C	probably damaging	Het
Rif1	A	G	2: 52,112,599	T2022A	probably benign	Het
Rint1	T	A	5: 23,817,078	L646Q	probably damaging	Het
Rpe65	A	T	3: 159,604,341	I84F	probably damaging	Het
Scgb2b7	A	T	7: 31,705,081	C65S	probably damaging	Het
Scnn1a	T	C	6: 125,342,781		probably benign	Het
Selenop	T	C	15: 3,280,622		probably benign	Het
Siglecf	T	G	7: 43,355,930	V438G	probably benign	Het
St8sia4	T	A	1: 95,653,774		probably benign	Het
Tfeb	T	C	17: 47,785,937	F43S	probably benign	Het
Tgm6	A	G	2: 130,138,931	Y216C	probably damaging	Het
Try10	T	A	6: 41,354,220	V10E	probably benign	Het
Ttn	A	T	2: 76,898,467	C1234*	probably null	Het
Ugt2a3	G	A	5: 87,336,580	P195L	probably damaging	Het
Usp24	T	G	4: 106,380,430	I1095R	probably damaging	Het
Usp34	C	T	11: 23,354,897	H377Y	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
IGL03163:Ccdc36	APN	9	108404933	missense	probably benign	0.00
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

Posted On

2016-08-02