Mutagenetix > Incidental Mutation

Incidental Mutation 'R0709:Ccdc136'

62651

Institutional Source

Beutler Lab

Gene Symbol

Ccdc136

Ensembl Gene

ENSMUSG00000029769

Gene Name

coiled-coil domain containing 136

Synonyms

4921511K06Rik

MMRRC Submission

038892-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0709 (G1)

Quality Score

124

Status

Validated

Chromosome

Chromosomal Location

29396309-29426994 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 29414970 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 644 (I644N)

Ref Sequence

ENSEMBL: ENSMUSP00000093789 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000096084
AA Change: I644N

PolyPhen 2 Score 0.645 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000093789
Gene: ENSMUSG00000029769
AA Change: I644N

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: I644N

PolyPhen 2 Score 0.345 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000110930
Gene: ENSMUSG00000029769
AA Change: I644N

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

possibly damaging
Transcript: ENSMUST00000154619
AA Change: I486N

PolyPhen 2 Score 0.516 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000118132
Gene: ENSMUSG00000029769
AA Change: I486N

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: I552N

PolyPhen 2 Score 0.385 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000137747
Gene: ENSMUSG00000029769
AA Change: I552N

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: I552N

PolyPhen 2 Score 0.171 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000137673
Gene: ENSMUSG00000029769
AA Change: I552N

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 95.8%

Validation Efficiency

98% (83/85)

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630010A05Rik	A	T	16: 14,618,494	D137V	probably damaging	Het
Aar2	C	T	2: 156,567,010	P378L	probably damaging	Het
Abcc5	A	T	16: 20,376,592	H718Q	possibly damaging	Het
Ace	G	T	11: 105,981,538	L319F	probably damaging	Het
Angpt4	C	A	2: 151,934,514	P321T	possibly damaging	Het
Atrip	T	C	9: 109,067,103	N282S	probably benign	Het
AW554918	A	C	18: 25,463,654	S525R	probably damaging	Het
Casc4	T	A	2: 121,867,425	V74E	probably damaging	Het
Ccdc178	A	G	18: 22,067,662	Y413H	probably damaging	Het
Ccdc7b	A	G	8: 129,136,646	H223R	probably benign	Het
Cd109	T	C	9: 78,671,978	V634A	possibly damaging	Het
Col7a1	T	A	9: 108,961,548		probably benign	Het
Copb2	A	T	9: 98,563,167		probably benign	Het
Csrnp3	C	T	2: 66,022,563	S445L	probably damaging	Het
Cxcl13	G	T	5: 95,958,671	C34F	probably damaging	Het
Dars2	T	C	1: 161,046,928	E397G	probably benign	Het
Dlg5	C	T	14: 24,146,255	V1625M	probably damaging	Het
Dnah12	T	G	14: 26,884,265		probably benign	Het
Eif4a1	C	A	11: 69,670,252	A76S	probably damaging	Het
Fam162b	T	A	10: 51,587,251	I107L	probably damaging	Het
Fbxo30	G	T	10: 11,291,313	C593F	possibly damaging	Het
Fut9	A	G	4: 25,620,359	F152L	probably damaging	Het
Galnt2	G	A	8: 124,343,346	G534D	probably benign	Het
Gm973	C	T	1: 59,558,234		probably benign	Het
Gprc5a	T	A	6: 135,078,950	S132T	probably damaging	Het
Hk3	G	A	13: 55,014,730	R47C	probably damaging	Het
Hrnr	A	T	3: 93,332,508	Q3351L	unknown	Het
Icam1	T	A	9: 21,019,127	F92L	probably damaging	Het
Ifi213	C	T	1: 173,589,800	V349I	possibly damaging	Het
Il12rb2	T	C	6: 67,298,904		probably benign	Het
Irx3	A	G	8: 91,799,420	V487A	possibly damaging	Het
Kalrn	A	G	16: 34,035,554	V204A	probably damaging	Het
Krt16	T	C	11: 100,246,454		probably benign	Het
Loxhd1	G	A	18: 77,404,969	V1369I	probably benign	Het
Med13	T	A	11: 86,319,596	K573N	possibly damaging	Het
Mnat1	A	G	12: 73,188,188	R204G	possibly damaging	Het
Myt1l	A	T	12: 29,827,733	D461V	unknown	Het
Nek6	T	A	2: 38,557,846	S41T	probably damaging	Het
Nudt22	T	C	19: 6,993,506	E232G	probably damaging	Het
Numbl	C	A	7: 27,273,990	F192L	probably damaging	Het
Olfr1202	C	T	2: 88,817,882	T237I	probably benign	Het
Olfr834	T	A	9: 18,988,126	I46K	probably damaging	Het
P2rx4	T	C	5: 122,714,404	V47A	probably damaging	Het
Phka1	T	A	X: 102,586,104	I478F	probably damaging	Het
Pkn2	G	A	3: 142,830,520	T200I	probably damaging	Het
Plcg1	T	A	2: 160,751,778		probably null	Het
Polg2	C	T	11: 106,768,413	G425R	probably damaging	Het
Ptprm	G	T	17: 66,944,332		probably null	Het
Reg1	G	A	6: 78,428,118	R108H	possibly damaging	Het
Slc19a2	T	A	1: 164,256,798	F86I	probably damaging	Het
Slc26a11	T	C	11: 119,374,777	L372P	probably damaging	Het
Slc2a4	C	T	11: 69,946,159	V28M	possibly damaging	Het
Snap29	A	G	16: 17,406,148	N9S	probably damaging	Het
Snd1	C	G	6: 28,545,470		probably benign	Het
Sorcs3	G	A	19: 48,487,406	A235T	probably benign	Het
Sp100	T	A	1: 85,694,281	N362K	probably damaging	Het
Sqor	A	T	2: 122,799,855	I32F	probably benign	Het
Stx6	C	T	1: 155,193,294	R189C	probably damaging	Het
Tchp	T	C	5: 114,717,453	I298T	probably damaging	Het
Themis	A	G	10: 28,761,574	I225V	probably benign	Het
Timm50	A	T	7: 28,306,941	V245E	probably damaging	Het
Tnxb	A	G	17: 34,689,354	E1327G	probably damaging	Het
Tpp1	C	T	7: 105,749,607	R205H	probably benign	Het
Tradd	T	C	8: 105,260,644	E10G	possibly damaging	Het
Trim43a	G	A	9: 88,582,146	E37K	probably benign	Het
Ttn	T	C	2: 76,899,403		probably benign	Het
Ttr	A	T	18: 20,669,977		probably null	Het
Ubp1	A	G	9: 113,944,931	Y66C	probably damaging	Het
Vmn2r102	A	T	17: 19,677,619	M299L	probably benign	Het
Vmn2r104	A	T	17: 20,042,904	N98K	probably damaging	Het
Yipf5	A	G	18: 40,207,772	S176P	probably benign	Het
Zpbp2	C	T	11: 98,553,937	T97I	probably damaging	Het

Other mutations in Ccdc136

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00980:Ccdc136	APN	6	29420258	missense	probably damaging	0.96
IGL01325:Ccdc136	APN	6	29412950	missense	probably benign	0.00
IGL01608:Ccdc136	APN	6	29406114	missense	possibly damaging	0.90
IGL02305:Ccdc136	APN	6	29406174	missense	probably damaging	1.00
IGL03354:Ccdc136	APN	6	29419103	missense	probably damaging	1.00
dimensionless	UTSW	6	29412450	missense	probably benign	0.03
punctate	UTSW	6	29410205	missense	probably damaging	0.99
PIT4515001:Ccdc136	UTSW	6	29417226	missense	probably benign	0.42
R0436:Ccdc136	UTSW	6	29414934	missense	probably damaging	1.00
R1451:Ccdc136	UTSW	6	29419377	missense	probably benign	0.09
R1593:Ccdc136	UTSW	6	29415584	missense	probably damaging	1.00
R1966:Ccdc136	UTSW	6	29418092	missense	probably damaging	1.00
R2113:Ccdc136	UTSW	6	29413032	missense	possibly damaging	0.51
R3845:Ccdc136	UTSW	6	29417177	missense	probably benign	0.20
R4668:Ccdc136	UTSW	6	29411281	missense	probably damaging	0.99
R5037:Ccdc136	UTSW	6	29417123	missense	probably damaging	1.00
R5085:Ccdc136	UTSW	6	29419314	missense	probably damaging	1.00
R5314:Ccdc136	UTSW	6	29417498	missense	probably benign	0.07
R5340:Ccdc136	UTSW	6	29411860	missense	possibly damaging	0.84
R5702:Ccdc136	UTSW	6	29412982	missense	probably damaging	0.99
R6108:Ccdc136	UTSW	6	29412450	missense	probably benign	0.03
R6313:Ccdc136	UTSW	6	29410205	missense	probably damaging	0.99
R6640:Ccdc136	UTSW	6	29412960	missense	possibly damaging	0.95
R6765:Ccdc136	UTSW	6	29405941	missense	probably benign
R7910:Ccdc136	UTSW	6	29420034	missense	probably benign	0.08
R7914:Ccdc136	UTSW	6	29419307	missense	probably damaging	1.00
R8030:Ccdc136	UTSW	6	29417142	missense	probably benign	0.07
R8414:Ccdc136	UTSW	6	29412930	missense	probably damaging	1.00
R8925:Ccdc136	UTSW	6	29406110	missense	probably damaging	0.98
R8927:Ccdc136	UTSW	6	29406110	missense	probably damaging	0.98
R9147:Ccdc136	UTSW	6	29418071	missense	probably damaging	1.00
R9148:Ccdc136	UTSW	6	29418071	missense	probably damaging	1.00
R9255:Ccdc136	UTSW	6	29409238	missense	probably benign
R9279:Ccdc136	UTSW	6	29421983	intron	probably benign
R9364:Ccdc136	UTSW	6	29405961	missense	probably damaging	1.00
R9623:Ccdc136	UTSW	6	29405940	missense	probably benign	0.00
R9712:Ccdc136	UTSW	6	29417442	missense	probably benign
R9799:Ccdc136	UTSW	6	29417506	missense	probably damaging	1.00
X0025:Ccdc136	UTSW	6	29409243	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- GCCAGACTGACAGAATTGCAGGAC -3'
(R):5'- CGATTAAGGAAGAAACGCCCTCCTC -3'

Sequencing Primer
(F):5'- TTGCAGGACAAGTTCAAAGCC -3'
(R):5'- CAGTTCACAAACTGATTTCAGGTG -3'

Posted On

2013-07-30