Mutagenetix > Incidental Mutation

Incidental Mutation 'R6765:Ccdc136'

531854

Institutional Source

Beutler Lab

Gene Symbol

Ccdc136

Ensembl Gene

ENSMUSG00000029769

Gene Name

coiled-coil domain containing 136

Synonyms

4921511K06Rik

MMRRC Submission

044881-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6765 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

29396296-29426954 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 29405940 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 95 (M95I)

Ref Sequence

ENSEMBL: ENSMUSP00000137673 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000096084
AA Change: M187I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000093789
Gene: ENSMUSG00000029769
AA Change: M187I

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
AA Change: M187I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000110930
Gene: ENSMUSG00000029769
AA Change: M187I

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

probably benign
Transcript: ENSMUST00000145310
AA Change: M187I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000145331
Gene: ENSMUSG00000029769
AA Change: M187I

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 benign
Transcript: ENSMUST00000154619
AA Change: M29I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000118132
Gene: ENSMUSG00000029769
AA Change: M29I

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
AA Change: M95I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000137747
Gene: ENSMUSG00000029769
AA Change: M95I

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: ENSMUST00000181464
AA Change: M95I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000137673
Gene: ENSMUSG00000029769
AA Change: M95I

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

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.5%

Validation Efficiency

100% (58/58)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl3	C	A	7: 82,216,232 (GRCm39)	D878E	possibly damaging	Het
Adipor2	A	C	6: 119,334,203 (GRCm39)	F336V	possibly damaging	Het
Akt3	A	T	1: 176,877,756 (GRCm39)	Y337*	probably null	Het
Aoc1	A	G	6: 48,882,871 (GRCm39)	N249S	probably benign	Het
Ap1b1	T	A	11: 4,969,427 (GRCm39)	L261Q	probably damaging	Het
Ap3b1	T	A	13: 94,599,017 (GRCm39)	D530E	probably benign	Het
Arid4b	T	A	13: 14,361,900 (GRCm39)	M788K	possibly damaging	Het
Atp2c2	A	T	8: 120,479,756 (GRCm39)	I762F	probably damaging	Het
Bhlhe23	C	A	2: 180,418,136 (GRCm39)	R134L	probably damaging	Het
Cacna2d3	T	C	14: 28,777,934 (GRCm39)	D687G	probably damaging	Het
Cdk12	T	A	11: 98,115,355 (GRCm39)	I832N	unknown	Het
Clcn2	A	C	16: 20,526,418 (GRCm39)		probably null	Het
Csrnp2	C	T	15: 100,380,574 (GRCm39)	R239Q	probably damaging	Het
Dhrs13	T	A	11: 77,927,965 (GRCm39)	D270E	probably benign	Het
Dlgap2	G	A	8: 14,793,284 (GRCm39)	G426D	probably benign	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Fam120a	A	G	13: 49,045,440 (GRCm39)	Y799H	probably damaging	Het
Farp1	G	A	14: 121,460,066 (GRCm39)	V112I	probably benign	Het
Fhip2a	A	G	19: 57,367,177 (GRCm39)	D240G	probably benign	Het
Fsip2	A	G	2: 82,816,776 (GRCm39)	I4170V	probably benign	Het
Gm12185	A	G	11: 48,806,531 (GRCm39)	V220A	probably benign	Het
Gpr37l1	T	C	1: 135,094,860 (GRCm39)	Y128C	probably damaging	Het
Gsto2	A	T	19: 47,860,227 (GRCm39)	R7*	probably null	Het
Itih3	C	T	14: 30,631,430 (GRCm39)	G822D	probably benign	Het
Kcnu1	A	T	8: 26,403,673 (GRCm39)	D728V	probably damaging	Het
Khdc4	G	T	3: 88,593,736 (GRCm39)	G42W	probably damaging	Het
Lnpep	G	A	17: 17,750,758 (GRCm39)	T976I	probably damaging	Het
Map1b	A	C	13: 99,562,449 (GRCm39)	H2420Q	unknown	Het
Mc1r	A	G	8: 124,134,435 (GRCm39)	K63E	probably damaging	Het
Mpped1	G	A	15: 83,720,584 (GRCm39)	V15M	probably damaging	Het
Ncor1	T	C	11: 62,264,272 (GRCm39)	T103A	probably benign	Het
Nhsl1	A	T	10: 18,407,062 (GRCm39)	T1399S	probably benign	Het
Nlrc5	C	T	8: 95,216,996 (GRCm39)	T995M	probably benign	Het
Nrbp1	G	A	5: 31,403,190 (GRCm39)		probably null	Het
Or10g9	A	C	9: 39,912,493 (GRCm39)	F10C	probably damaging	Het
Or4c116	G	T	2: 88,942,640 (GRCm39)	T72N	possibly damaging	Het
Or8k27	T	C	2: 86,275,580 (GRCm39)	T249A	probably benign	Het
Pcdhb13	T	C	18: 37,576,663 (GRCm39)	L347P	probably damaging	Het
Pkhd1	T	C	1: 20,128,563 (GRCm39)	T4047A	probably benign	Het
Prrt2	T	A	7: 126,618,769 (GRCm39)	D232V	probably damaging	Het
Psmd5	A	C	2: 34,746,545 (GRCm39)	M344R	probably benign	Het
Pwp1	G	A	10: 85,720,397 (GRCm39)	E345K	probably damaging	Het
Qsox1	A	G	1: 155,666,851 (GRCm39)	Y213H	probably benign	Het
Rmc1	A	G	18: 12,309,203 (GRCm39)	N92D	possibly damaging	Het
Sclt1	T	C	3: 41,685,337 (GRCm39)	R39G	unknown	Het
Syne1	A	T	10: 5,093,285 (GRCm39)		probably null	Het
Tmem163	G	T	1: 127,479,078 (GRCm39)	A147E	probably damaging	Het
Trav13n-4	A	T	14: 53,601,557 (GRCm39)	M109L	probably benign	Het
Trp53bp1	T	C	2: 121,039,790 (GRCm39)	E1283G	probably damaging	Het
Trpm6	T	A	19: 18,855,129 (GRCm39)	D1929E	probably damaging	Het
Upb1	A	T	10: 75,273,978 (GRCm39)	D335V	probably damaging	Het
Vps26b	T	C	9: 26,924,104 (GRCm39)	E213G	probably damaging	Het
Vwc2	C	T	11: 11,104,215 (GRCm39)	T249I	probably benign	Het
Wwc2	A	G	8: 48,353,826 (GRCm39)	Y103H	possibly damaging	Het
Zan	A	G	5: 137,391,409 (GRCm39)	C4692R	unknown	Het
Zfp106	T	C	2: 120,369,935 (GRCm39)	E29G	probably damaging	Het
Zfp551	G	A	7: 12,150,767 (GRCm39)	A214V	possibly damaging	Het
Zfp981	T	A	4: 146,622,363 (GRCm39)	H429Q	probably benign	Het

Other mutations in Ccdc136

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00980:Ccdc136	APN	6	29,420,257 (GRCm39)	missense	probably damaging	0.96
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
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

Predicted Primers

PCR Primer
(F):5'- AGTGGCTTTCAGACAGCAGG -3'
(R):5'- AGAAGTCTTCAATTCCATTTCTGCC -3'

Sequencing Primer
(F):5'- CAGGTAAGACTCTCTTGAACGCTG -3'
(R):5'- GGAGCGAGGCAATCTCCATCTC -3'

Posted On

2018-08-29