Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02138:Ccdc36'

281417

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: 0.081) question?

Stock #

IGL02138

Quality Score

Status

Chromosome

Chromosomal Location

108403611-108428484 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 108406621 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 208 (T208I)

Ref Sequence

ENSEMBL: ENSMUSP00000075898 (fasta)

Gene Model

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

AlphaFold

Q6PDM4

Predicted Effect

probably benign
Transcript: ENSMUST00000076592
AA Change: T208I

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000075898
Gene: ENSMUSG00000047220
AA Change: T208I

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	G	14: 32,662,715	D431A	possibly damaging	Het
Adgrb1	T	C	15: 74,529,782	M209T	probably damaging	Het
Ano8	T	C	8: 71,484,842	H86R	probably damaging	Het
Camk1d	G	T	2: 5,445,084	Y87*	probably null	Het
Capza3	A	G	6: 140,042,146	D157G	probably benign	Het
Ckmt2	A	T	13: 91,861,828	D124E	probably benign	Het
Col14a1	C	A	15: 55,420,835	Q831K	unknown	Het
Copb2	C	T	9: 98,587,552	P829S	probably benign	Het
Dlg5	A	G	14: 24,158,351	V929A	probably benign	Het
Dolk	A	G	2: 30,285,979	V18A	probably benign	Het
Ecm2	G	T	13: 49,522,828	L340F	probably damaging	Het
Hacl1	A	G	14: 31,630,983	L149P	probably benign	Het
Higd2a	A	T	13: 54,590,422		probably null	Het
Hspa12a	A	T	19: 58,828,298	S28R	probably benign	Het
Igkv5-37	A	G	6: 69,963,451	Y70H	probably damaging	Het
Kif11	T	C	19: 37,384,609	V92A	probably damaging	Het
Kif26a	T	C	12: 112,174,850	S696P	probably damaging	Het
Kng1	A	T	16: 23,067,808	N168Y	probably damaging	Het
Krt26	C	T	11: 99,333,645	R349Q	probably benign	Het
Lepr	A	G	4: 101,768,067	D473G	probably damaging	Het
Lipt1	G	A	1: 37,875,786	E308K	possibly damaging	Het
Luc7l3	A	T	11: 94,303,966	F76Y	probably benign	Het
Mapk1	A	G	16: 17,023,452	I163V	probably benign	Het
Matn3	A	G	12: 8,967,638	E430G	possibly damaging	Het
Med13	A	T	11: 86,286,765	S1502T	probably damaging	Het
Mlf1	A	T	3: 67,399,713	H237L	probably benign	Het
Mss51	A	C	14: 20,484,855	Y282*	probably null	Het
Ncoa3	A	G	2: 166,055,262	T658A	probably benign	Het
Olfr406	A	T	11: 74,269,718	M110L	probably benign	Het
Olfr867	A	T	9: 20,054,900	S188T	probably benign	Het
Phrf1	T	A	7: 141,259,283		probably benign	Het
Ppme1	C	T	7: 100,333,932	M335I	probably damaging	Het
Ror2	C	T	13: 53,110,728	S764N	probably damaging	Het
Sntg2	T	A	12: 30,307,231		probably null	Het
Spryd3	T	C	15: 102,118,919		probably benign	Het
Srpx	A	G	X: 10,067,423		probably null	Het
St8sia1	G	T	6: 142,963,778		probably benign	Het
Stab1	A	G	14: 31,143,513		probably null	Het
Sycp2	T	A	2: 178,401,990	K108*	probably null	Het
Sycp2	A	T	2: 178,358,254	S976R	probably benign	Het
Tagap1	T	C	17: 6,956,086	T404A	probably damaging	Het
Tg	C	T	15: 66,717,233	T21I	probably benign	Het
Tlr4	A	T	4: 66,840,965	Y665F	probably damaging	Het
Tmc8	T	G	11: 117,791,255	S525A	probably benign	Het
Tor4a	A	T	2: 25,194,798	D364E	probably benign	Het
Trim44	T	C	2: 102,380,908	I236V	probably benign	Het
Ube2o	A	G	11: 116,543,400		probably benign	Het
Wdr38	A	T	2: 38,998,412	N7I	probably damaging	Het
Xirp2	A	T	2: 67,516,956	R3180S	probably benign	Het
Zfp335	A	G	2: 164,893,804	C1077R	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
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
R8778:Ccdc36	UTSW	9	108405608	missense	probably damaging	0.97

Posted On

2015-04-16