Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03150:Ccdc36'

411077

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ccdc36

Ensembl Gene

ENSMUSG00000047220

Gene Name

coiled-coil domain containing 36

Synonyms

Accession Numbers

Essential gene?

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

Stock #

IGL03150

Quality Score

Status

Chromosome

Chromosomal Location

108403611-108428484 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 108404956 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 511 (T511K)

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: T511K

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000075898
Gene: ENSMUSG00000047220
AA Change: T511K

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	T	C	3: 36,948,066	S1387P	probably damaging	Het
Aadat	C	T	8: 60,543,562	S399L	probably damaging	Het
C530008M17Rik	G	A	5: 76,867,250	E57K	probably damaging	Het
Corin	T	C	5: 72,302,858	D886G	probably damaging	Het
Eif2ak3	A	T	6: 70,892,436	K702N	possibly damaging	Het
Ercc6	G	T	14: 32,558,574	M709I	probably damaging	Het
Foxa1	T	A	12: 57,542,296	E379D	probably benign	Het
Fscb	C	T	12: 64,472,430	G754D	unknown	Het
Gzmb	C	T	14: 56,260,382	V134I	probably benign	Het
Muc5b	A	G	7: 141,865,509	T4010A	possibly damaging	Het
Necab3	A	G	2: 154,554,742	Y55H	probably damaging	Het
Nova1	T	C	12: 46,700,672	N274S	possibly damaging	Het
Nup54	C	A	5: 92,428,164	G156V	probably damaging	Het
Obscn	A	T	11: 59,051,723	C4317S	probably damaging	Het
Papln	T	A	12: 83,782,984	W960R	probably damaging	Het
Pax4	C	A	6: 28,444,339	G239W	probably null	Het
Pcdhb15	C	A	18: 37,475,014	T433N	probably damaging	Het
Ptprj	A	G	2: 90,460,611	S502P	probably damaging	Het
Slit3	A	G	11: 35,508,257	R150G	possibly damaging	Het
Srgap2	A	T	1: 131,310,600	V658E	probably damaging	Het
Taar7e	A	T	10: 24,037,630	D6V	probably benign	Het
Trim25	T	C	11: 89,000,005	C173R	probably damaging	Het
Trmt1l	T	C	1: 151,453,892	S529P	probably benign	Het
Ubn2	C	T	6: 38,463,714	P174S	probably benign	Het
Ubox5	A	G	2: 130,600,140	V209A	probably benign	Het
Vmn2r72	A	G	7: 85,751,176	F222L	probably damaging	Het
Xpot	C	T	10: 121,609,186	A374T	probably benign	Het
Zfp451	A	G	1: 33,777,454	C472R	probably damaging	Het
Zfp777	A	G	6: 48,044,125	W232R	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
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

2016-08-02