Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00980:Ccdc136'

27716

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ccdc136

Ensembl Gene

ENSMUSG00000029769

Gene Name

coiled-coil domain containing 136

Synonyms

4921511K06Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00980

Quality Score

Status

Chromosome

Chromosomal Location

29396296-29426954 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 29420257 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 992 (S992N)

Ref Sequence

ENSEMBL: ENSMUSP00000118132 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096084] [ENSMUST00000115275] [ENSMUST00000145310] [ENSMUST00000154619] [ENSMUST00000180829] [ENSMUST00000202726] [ENSMUST00000181464]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000096084
AA Change: S1150N

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000093789
Gene: ENSMUSG00000029769
AA Change: S1150N

Domain	Start	End	E-Value	Type
low complexity region	3	13	N/A	INTRINSIC
low complexity region	65	83	N/A	INTRINSIC
low complexity region	85	92	N/A	INTRINSIC
coiled coil region	99	310	N/A	INTRINSIC
coiled coil region	343	408	N/A	INTRINSIC
internal_repeat_2	416	435	7.26e-6	PROSPERO
low complexity region	439	453	N/A	INTRINSIC
coiled coil region	463	489	N/A	INTRINSIC
coiled coil region	526	611	N/A	INTRINSIC
low complexity region	645	658	N/A	INTRINSIC
coiled coil region	730	779	N/A	INTRINSIC
internal_repeat_1	791	810	8.87e-9	PROSPERO
internal_repeat_1	819	838	8.87e-9	PROSPERO
low complexity region	847	868	N/A	INTRINSIC
internal_repeat_2	902	921	7.26e-6	PROSPERO
low complexity region	994	1011	N/A	INTRINSIC
low complexity region	1023	1041	N/A	INTRINSIC
coiled coil region	1066	1104	N/A	INTRINSIC
low complexity region	1108	1142	N/A	INTRINSIC
transmembrane domain	1154	1176	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000115275

SMART Domains

Protein: ENSMUSP00000110930
Gene: ENSMUSG00000029769

Domain	Start	End	E-Value	Type
low complexity region	3	13	N/A	INTRINSIC
low complexity region	65	83	N/A	INTRINSIC
low complexity region	85	92	N/A	INTRINSIC
coiled coil region	99	310	N/A	INTRINSIC
coiled coil region	343	408	N/A	INTRINSIC
internal_repeat_2	416	435	1.72e-5	PROSPERO
low complexity region	439	453	N/A	INTRINSIC
coiled coil region	463	489	N/A	INTRINSIC
coiled coil region	526	611	N/A	INTRINSIC
low complexity region	645	658	N/A	INTRINSIC
coiled coil region	730	779	N/A	INTRINSIC
internal_repeat_1	791	810	2.93e-8	PROSPERO
internal_repeat_1	819	838	2.93e-8	PROSPERO
low complexity region	847	868	N/A	INTRINSIC
internal_repeat_2	902	921	1.72e-5	PROSPERO
transmembrane domain	967	989	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127611

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143599

Predicted Effect

probably benign
Transcript: ENSMUST00000145310

SMART Domains

Protein: ENSMUSP00000145331
Gene: ENSMUSG00000029769

Domain	Start	End	E-Value	Type
low complexity region	3	13	N/A	INTRINSIC
low complexity region	65	83	N/A	INTRINSIC
low complexity region	85	92	N/A	INTRINSIC
coiled coil region	99	310	N/A	INTRINSIC
coiled coil region	343	408	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000154619
AA Change: S992N

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000118132
Gene: ENSMUSG00000029769
AA Change: S992N

Domain	Start	End	E-Value	Type
coiled coil region	1	152	N/A	INTRINSIC
coiled coil region	185	250	N/A	INTRINSIC
internal_repeat_2	258	277	4.68e-6	PROSPERO
low complexity region	281	295	N/A	INTRINSIC
coiled coil region	305	331	N/A	INTRINSIC
coiled coil region	368	453	N/A	INTRINSIC
low complexity region	487	500	N/A	INTRINSIC
coiled coil region	572	621	N/A	INTRINSIC
internal_repeat_1	633	652	5.47e-9	PROSPERO
internal_repeat_1	661	680	5.47e-9	PROSPERO
low complexity region	689	710	N/A	INTRINSIC
internal_repeat_2	744	763	4.68e-6	PROSPERO
low complexity region	836	853	N/A	INTRINSIC
low complexity region	865	883	N/A	INTRINSIC
coiled coil region	908	946	N/A	INTRINSIC
low complexity region	950	984	N/A	INTRINSIC
transmembrane domain	996	1018	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000180829

SMART Domains

Protein: ENSMUSP00000137747
Gene: ENSMUSG00000029769

Domain	Start	End	E-Value	Type
coiled coil region	7	218	N/A	INTRINSIC
coiled coil region	251	316	N/A	INTRINSIC
internal_repeat_2	324	343	1.21e-5	PROSPERO
low complexity region	347	361	N/A	INTRINSIC
coiled coil region	371	397	N/A	INTRINSIC
coiled coil region	434	519	N/A	INTRINSIC
low complexity region	553	566	N/A	INTRINSIC
coiled coil region	638	687	N/A	INTRINSIC
internal_repeat_1	699	718	1.98e-8	PROSPERO
internal_repeat_1	727	746	1.98e-8	PROSPERO
low complexity region	755	776	N/A	INTRINSIC
internal_repeat_2	810	829	1.21e-5	PROSPERO
transmembrane domain	875	897	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000202726

SMART Domains

Protein: ENSMUSP00000144577
Gene: ENSMUSG00000029769

Domain	Start	End	E-Value	Type
coiled coil region	25	90	N/A	INTRINSIC
transmembrane domain	94	116	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000181464

SMART Domains

Protein: ENSMUSP00000137673
Gene: ENSMUSG00000029769

Domain	Start	End	E-Value	Type
coiled coil region	7	218	N/A	INTRINSIC
coiled coil region	251	316	N/A	INTRINSIC
internal_repeat_2	324	343	7.68e-6	PROSPERO
low complexity region	347	361	N/A	INTRINSIC
coiled coil region	371	397	N/A	INTRINSIC
coiled coil region	434	519	N/A	INTRINSIC
low complexity region	553	566	N/A	INTRINSIC
coiled coil region	638	687	N/A	INTRINSIC
internal_repeat_1	699	718	1.04e-8	PROSPERO
internal_repeat_1	727	746	1.04e-8	PROSPERO
low complexity region	755	776	N/A	INTRINSIC
internal_repeat_2	810	829	7.68e-6	PROSPERO
low complexity region	902	919	N/A	INTRINSIC
low complexity region	931	949	N/A	INTRINSIC
transmembrane domain	969	991	N/A	INTRINSIC

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
Adam2	A	T	14: 66,293,977 (GRCm39)	Y283*	probably null	Het
Bend3	C	A	10: 43,387,562 (GRCm39)	Q652K	probably damaging	Het
Bltp1	C	T	3: 37,054,190 (GRCm39)	T3103I	probably damaging	Het
Cct6a	T	C	5: 129,868,856 (GRCm39)		probably benign	Het
Cd74	A	T	18: 60,944,398 (GRCm39)	I203F	probably benign	Het
Cd8b1	C	A	6: 71,309,463 (GRCm39)	C182*	probably null	Het
Cmtr1	T	A	17: 29,910,258 (GRCm39)	D454E	probably benign	Het
Cyp2b13	T	A	7: 25,781,152 (GRCm39)	F188Y	probably benign	Het
Dppa2	T	C	16: 48,132,049 (GRCm39)	S49P	possibly damaging	Het
Fhl5	G	T	4: 25,207,181 (GRCm39)	L196I	possibly damaging	Het
Gimap4	T	A	6: 48,667,872 (GRCm39)	V81D	probably damaging	Het
Gm4884	T	G	7: 40,693,150 (GRCm39)	M373R	probably damaging	Het
Gnrhr	C	T	5: 86,345,162 (GRCm39)		probably null	Het
H2-Oa	T	G	17: 34,313,537 (GRCm39)	L196R	probably damaging	Het
Icosl	T	C	10: 77,907,805 (GRCm39)	S122P	probably damaging	Het
Itpr3	A	G	17: 27,329,930 (GRCm39)	T1575A	probably benign	Het
Krt80	T	C	15: 101,247,879 (GRCm39)	K373E	possibly damaging	Het
Lamp1	G	A	8: 13,221,195 (GRCm39)		probably benign	Het
Npvf	T	C	6: 50,627,865 (GRCm39)	K185E	probably damaging	Het
Nuf2	A	G	1: 169,338,003 (GRCm39)	M258T	probably damaging	Het
Or6b2	T	C	1: 92,407,402 (GRCm39)		probably null	Het
Or8b36	G	A	9: 37,937,107 (GRCm39)	V2I	probably benign	Het
Smurf2	A	C	11: 106,726,921 (GRCm39)	I469S	probably damaging	Het
Soat1	T	A	1: 156,268,911 (GRCm39)	H180L	probably benign	Het
Spink5	G	T	18: 44,140,777 (GRCm39)	D659Y	probably damaging	Het
Sprtn	T	C	8: 125,627,037 (GRCm39)	M139T	probably damaging	Het
Tas2r140	T	C	6: 40,468,352 (GRCm39)	S61P	possibly damaging	Het
Tec	G	A	5: 72,944,141 (GRCm39)	L89F	probably damaging	Het
Trav21-dv12	A	T	14: 54,114,107 (GRCm39)	M76L	probably benign	Het
Ttc7	A	C	17: 87,628,874 (GRCm39)	T271P	possibly damaging	Het
Tyk2	G	A	9: 21,031,884 (GRCm39)	T397I	probably benign	Het
Ugt1a6b	T	A	1: 88,035,327 (GRCm39)	Y222N	possibly damaging	Het
Vmn2r2	A	T	3: 64,024,601 (GRCm39)	M660K	probably benign	Het
Vmn2r52	T	A	7: 9,905,017 (GRCm39)	Y274F	probably damaging	Het
Wscd1	A	C	11: 71,679,768 (GRCm39)	N547T	possibly damaging	Het
Zfp335	C	A	2: 164,744,594 (GRCm39)	E394*	probably null	Het

Other mutations in Ccdc136

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01325:Ccdc136	APN	6	29,412,949 (GRCm39)	missense	probably benign	0.00
IGL01608:Ccdc136	APN	6	29,406,113 (GRCm39)	missense	possibly damaging	0.90
IGL02305:Ccdc136	APN	6	29,406,173 (GRCm39)	missense	probably damaging	1.00
IGL03354:Ccdc136	APN	6	29,419,102 (GRCm39)	missense	probably damaging	1.00
dimensionless	UTSW	6	29,412,449 (GRCm39)	missense	probably benign	0.03
punctate	UTSW	6	29,410,204 (GRCm39)	missense	probably damaging	0.99
PIT4515001:Ccdc136	UTSW	6	29,417,225 (GRCm39)	missense	probably benign	0.42
R0436:Ccdc136	UTSW	6	29,414,933 (GRCm39)	missense	probably damaging	1.00
R0709:Ccdc136	UTSW	6	29,414,969 (GRCm39)	missense	possibly damaging	0.64
R1451:Ccdc136	UTSW	6	29,419,376 (GRCm39)	missense	probably benign	0.09
R1593:Ccdc136	UTSW	6	29,415,583 (GRCm39)	missense	probably damaging	1.00
R1966:Ccdc136	UTSW	6	29,418,091 (GRCm39)	missense	probably damaging	1.00
R2113:Ccdc136	UTSW	6	29,413,031 (GRCm39)	missense	possibly damaging	0.51
R3845:Ccdc136	UTSW	6	29,417,176 (GRCm39)	missense	probably benign	0.20
R4668:Ccdc136	UTSW	6	29,411,280 (GRCm39)	missense	probably damaging	0.99
R5037:Ccdc136	UTSW	6	29,417,122 (GRCm39)	missense	probably damaging	1.00
R5085:Ccdc136	UTSW	6	29,419,313 (GRCm39)	missense	probably damaging	1.00
R5314:Ccdc136	UTSW	6	29,417,497 (GRCm39)	missense	probably benign	0.07
R5340:Ccdc136	UTSW	6	29,411,859 (GRCm39)	missense	possibly damaging	0.84
R5702:Ccdc136	UTSW	6	29,412,981 (GRCm39)	missense	probably damaging	0.99
R6108:Ccdc136	UTSW	6	29,412,449 (GRCm39)	missense	probably benign	0.03
R6313:Ccdc136	UTSW	6	29,410,204 (GRCm39)	missense	probably damaging	0.99
R6640:Ccdc136	UTSW	6	29,412,959 (GRCm39)	missense	possibly damaging	0.95
R6765:Ccdc136	UTSW	6	29,405,940 (GRCm39)	missense	probably benign
R7910:Ccdc136	UTSW	6	29,420,033 (GRCm39)	missense	probably benign	0.08
R7914:Ccdc136	UTSW	6	29,419,306 (GRCm39)	missense	probably damaging	1.00
R8030:Ccdc136	UTSW	6	29,417,141 (GRCm39)	missense	probably benign	0.07
R8414:Ccdc136	UTSW	6	29,412,929 (GRCm39)	missense	probably damaging	1.00
R8925:Ccdc136	UTSW	6	29,406,109 (GRCm39)	missense	probably damaging	0.98
R8927:Ccdc136	UTSW	6	29,406,109 (GRCm39)	missense	probably damaging	0.98
R9147:Ccdc136	UTSW	6	29,418,070 (GRCm39)	missense	probably damaging	1.00
R9148:Ccdc136	UTSW	6	29,418,070 (GRCm39)	missense	probably damaging	1.00
R9255:Ccdc136	UTSW	6	29,409,237 (GRCm39)	missense	probably benign
R9279:Ccdc136	UTSW	6	29,421,982 (GRCm39)	intron	probably benign
R9364:Ccdc136	UTSW	6	29,405,960 (GRCm39)	missense	probably damaging	1.00
R9623:Ccdc136	UTSW	6	29,405,939 (GRCm39)	missense	probably benign	0.00
R9712:Ccdc136	UTSW	6	29,417,441 (GRCm39)	missense	probably benign
R9799:Ccdc136	UTSW	6	29,417,505 (GRCm39)	missense	probably damaging	1.00
X0025:Ccdc136	UTSW	6	29,409,242 (GRCm39)	splice site	probably null

Posted On

2013-04-17