Mutagenetix > Incidental Mutation

Incidental Mutation 'R1995:Ccdc129'

225675

Institutional Source

Beutler Lab

Gene Symbol

Ccdc129

Ensembl Gene

ENSMUSG00000037973

Gene Name

coiled-coil domain containing 129

Synonyms

D530004J12Rik

MMRRC Submission

040005-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1995 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

55836895-55978735 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 55968709 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 805 (I805T)

Ref Sequence

ENSEMBL: ENSMUSP00000045332 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044729]

AlphaFold

Q14B48

Predicted Effect

probably benign
Transcript: ENSMUST00000044729
AA Change: I805T

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000045332
Gene: ENSMUSG00000037973
AA Change: I805T

Domain	Start	End	E-Value	Type
KRAP_IP3R_bind	112	264	2.99e-82	SMART
low complexity region	326	334	N/A	INTRINSIC
low complexity region	432	442	N/A	INTRINSIC
low complexity region	477	496	N/A	INTRINSIC
low complexity region	498	511	N/A	INTRINSIC
low complexity region	781	789	N/A	INTRINSIC
Pfam:SSFA2_C	806	916	3e-14	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169699

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agtpbp1	T	G	13: 59,531,058	K145N	probably damaging	Het
AY358078	T	A	14: 51,826,062	D388E	probably damaging	Het
Btbd9	A	G	17: 30,274,930	Y496H	possibly damaging	Het
Catsperb	T	A	12: 101,602,767	N899K	possibly damaging	Het
Cenpl	T	C	1: 161,078,424	S123P	probably damaging	Het
Cep120	G	A	18: 53,740,136	T41I	probably damaging	Het
Cep295	C	T	9: 15,340,883	E397K	probably damaging	Het
Cnbd1	G	A	4: 19,055,112	P105S	possibly damaging	Het
Col6a1	T	C	10: 76,721,956	N149D	probably damaging	Het
Ctnna3	T	A	10: 63,820,364	V241D	probably damaging	Het
Dcbld2	A	C	16: 58,456,332	E495D	probably benign	Het
Dmp1	T	G	5: 104,209,913	S40A	possibly damaging	Het
Dpysl4	A	G	7: 139,096,770	I379V	probably benign	Het
Eral1	C	T	11: 78,074,489	G367S	probably benign	Het
Fah	C	T	7: 84,602,181	R31Q	probably damaging	Het
Fbn1	T	A	2: 125,350,373		probably null	Het
Fbxo40	T	C	16: 36,969,869	D293G	probably damaging	Het
Gemin6	A	C	17: 80,227,985	T125P	probably damaging	Het
Gpbar1	G	A	1: 74,279,444	G282D	possibly damaging	Het
Gria2	G	A	3: 80,802,357	L10F	probably benign	Het
Gucy1b1	A	G	3: 82,034,853	I533T	probably damaging	Het
H2-M9	A	T	17: 36,641,786	Y123N	probably damaging	Het
Hipk2	C	A	6: 38,715,974	D868Y	probably damaging	Het
Jarid2	T	C	13: 44,874,441	L123P	probably damaging	Het
Kcnb2	C	A	1: 15,709,766	N287K	possibly damaging	Het
Kdm8	G	A	7: 125,452,339	G35S	probably benign	Het
Kirrel	G	T	3: 87,095,786	A100D	possibly damaging	Het
Ltbp2	T	G	12: 84,808,446		probably null	Het
Mfsd12	C	A	10: 81,357,681	H28Q	probably damaging	Het
Neb	C	T	2: 52,298,732	V837M	probably damaging	Het
Nkain2	A	G	10: 32,402,351	I26T	possibly damaging	Het
Nuggc	A	G	14: 65,611,174	R175G	probably benign	Het
Olfr1122	T	G	2: 87,387,831	I42R	probably damaging	Het
Olfr1161	T	A	2: 88,025,672	S317T	probably benign	Het
Olfr205	A	G	16: 59,329,291	S73P	probably damaging	Het
Olfr965	T	C	9: 39,719,413	F62S	probably damaging	Het
Pcnt	G	A	10: 76,392,799	Q1511*	probably null	Het
Piezo2	G	T	18: 63,078,781	T1311K	probably damaging	Het
Pik3c2a	T	C	7: 116,354,006	Y1218C	probably damaging	Het
Pik3r4	T	A	9: 105,669,165	S905T	probably benign	Het
Pikfyve	T	A	1: 65,246,708	D1035E	probably damaging	Het
Pkn3	G	C	2: 30,089,977	G744A	probably damaging	Het
Pms1	A	G	1: 53,195,015	S781P	probably benign	Het
Pogz	C	T	3: 94,877,944	R793W	probably damaging	Het
Prrc2a	A	T	17: 35,157,429	V795D	probably damaging	Het
Rock1	G	A	18: 10,101,026	R630*	probably null	Het
Scd4	T	A	19: 44,334,178	I70N	possibly damaging	Het
Serpine2	A	G	1: 79,821,442	S32P	probably damaging	Het
Slc9c1	A	C	16: 45,554,255	T328P	probably damaging	Het
Spata31d1b	G	C	13: 59,716,380	L447F	probably benign	Het
Speer2	A	G	16: 69,858,077	S167P	probably benign	Het
Sphkap	G	A	1: 83,277,515	R838*	probably null	Het
Tbcel	C	A	9: 42,451,661	G29W	probably damaging	Het
Tmcc3	T	C	10: 94,578,606	S57P	possibly damaging	Het
Tmem240	T	A	4: 155,739,847	D125E	possibly damaging	Het
Ttll7	G	A	3: 146,961,755	C792Y	possibly damaging	Het
Vmn1r177	T	A	7: 23,865,687	I255F	probably damaging	Het
Zp2	T	A	7: 120,135,165	I554F	probably damaging	Het

Other mutations in Ccdc129

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00087:Ccdc129	APN	6	55968037	missense	possibly damaging	0.90
IGL01317:Ccdc129	APN	6	55967805	missense	possibly damaging	0.77
IGL01390:Ccdc129	APN	6	55897998	missense	probably benign	0.41
IGL01696:Ccdc129	APN	6	55897695	missense	probably benign	0.40
IGL01941:Ccdc129	APN	6	55968045	missense	probably benign
IGL01967:Ccdc129	APN	6	55897911	missense	probably damaging	0.99
IGL02071:Ccdc129	APN	6	55967725	nonsense	probably null
IGL02232:Ccdc129	APN	6	55967937	missense	unknown
IGL02268:Ccdc129	APN	6	55884688	splice site	probably benign
IGL02440:Ccdc129	APN	6	55884728	missense	possibly damaging	0.95
IGL02614:Ccdc129	APN	6	55968277	missense	probably damaging	0.99
IGL02626:Ccdc129	APN	6	55968646	missense	probably benign	0.03
IGL02674:Ccdc129	APN	6	55897928	missense	probably benign	0.04
IGL02836:Ccdc129	APN	6	55898090	missense	probably damaging	1.00
IGL02884:Ccdc129	APN	6	55874354	splice site	probably null
IGL02889:Ccdc129	APN	6	55901458	missense	possibly damaging	0.46
IGL03103:Ccdc129	APN	6	55968159	missense	possibly damaging	0.59
IGL03117:Ccdc129	APN	6	55898129	missense	probably benign	0.25
IGL03343:Ccdc129	APN	6	55968584	missense	probably damaging	1.00
BB006:Ccdc129	UTSW	6	55897961	missense	probably damaging	1.00
BB016:Ccdc129	UTSW	6	55897961	missense	probably damaging	1.00
PIT4418001:Ccdc129	UTSW	6	55968345	missense	probably damaging	1.00
R0054:Ccdc129	UTSW	6	55872472	utr 5 prime	probably benign
R0200:Ccdc129	UTSW	6	55897956	missense	probably benign	0.10
R0245:Ccdc129	UTSW	6	55898007	missense	probably damaging	1.00
R0320:Ccdc129	UTSW	6	55976447	missense	probably damaging	1.00
R0326:Ccdc129	UTSW	6	55898243	missense	possibly damaging	0.61
R0357:Ccdc129	UTSW	6	55968034	missense	probably benign	0.13
R1109:Ccdc129	UTSW	6	55968260	missense	probably damaging	1.00
R1118:Ccdc129	UTSW	6	55889170	missense	probably damaging	1.00
R1119:Ccdc129	UTSW	6	55889170	missense	probably damaging	1.00
R1462:Ccdc129	UTSW	6	55975664	missense	probably damaging	1.00
R1462:Ccdc129	UTSW	6	55975664	missense	probably damaging	1.00
R1588:Ccdc129	UTSW	6	55978503	missense	possibly damaging	0.72
R1678:Ccdc129	UTSW	6	55968514	missense	probably benign	0.35
R1680:Ccdc129	UTSW	6	55968766	missense	probably damaging	1.00
R1728:Ccdc129	UTSW	6	55968541	missense	probably benign	0.01
R1729:Ccdc129	UTSW	6	55968541	missense	probably benign	0.01
R1737:Ccdc129	UTSW	6	55968304	missense	probably damaging	1.00
R1771:Ccdc129	UTSW	6	55898147	missense	probably benign	0.40
R1784:Ccdc129	UTSW	6	55968541	missense	probably benign	0.01
R1936:Ccdc129	UTSW	6	55897681	missense	probably damaging	1.00
R2037:Ccdc129	UTSW	6	55897875	missense	probably benign	0.00
R2137:Ccdc129	UTSW	6	55889189	missense	probably damaging	1.00
R2190:Ccdc129	UTSW	6	55897700	missense	possibly damaging	0.87
R2191:Ccdc129	UTSW	6	55967719	missense	probably benign	0.06
R2234:Ccdc129	UTSW	6	55897812	missense	possibly damaging	0.67
R2235:Ccdc129	UTSW	6	55897812	missense	possibly damaging	0.67
R3793:Ccdc129	UTSW	6	55975603	missense	possibly damaging	0.80
R3923:Ccdc129	UTSW	6	55968060	missense	probably benign	0.19
R3959:Ccdc129	UTSW	6	55897740	missense	probably benign
R4332:Ccdc129	UTSW	6	55968235	missense	possibly damaging	0.95
R4485:Ccdc129	UTSW	6	55887066	missense	probably benign	0.00
R4688:Ccdc129	UTSW	6	55967147	splice site	probably null
R4916:Ccdc129	UTSW	6	55978190	missense	possibly damaging	0.77
R5201:Ccdc129	UTSW	6	55968006	missense	probably benign	0.03
R5383:Ccdc129	UTSW	6	55978290	missense	probably benign	0.38
R5450:Ccdc129	UTSW	6	55968811	critical splice donor site	probably null
R5542:Ccdc129	UTSW	6	55978395	missense	probably damaging	0.99
R5819:Ccdc129	UTSW	6	55897891	missense	probably benign	0.18
R5935:Ccdc129	UTSW	6	55897769	nonsense	probably null
R6034:Ccdc129	UTSW	6	55967681	missense	possibly damaging	0.94
R6034:Ccdc129	UTSW	6	55967681	missense	possibly damaging	0.94
R6209:Ccdc129	UTSW	6	55874321	missense	probably damaging	1.00
R6246:Ccdc129	UTSW	6	55967672	missense	probably damaging	1.00
R6463:Ccdc129	UTSW	6	55968678	missense	probably benign	0.17
R6490:Ccdc129	UTSW	6	55976420	missense	probably damaging	1.00
R6948:Ccdc129	UTSW	6	55978485	missense	probably benign
R7148:Ccdc129	UTSW	6	55897686	missense	probably damaging	1.00
R7382:Ccdc129	UTSW	6	55978419	missense	probably benign	0.02
R7403:Ccdc129	UTSW	6	55976414	nonsense	probably null
R7846:Ccdc129	UTSW	6	55978335	missense	possibly damaging	0.89
R7929:Ccdc129	UTSW	6	55897961	missense	probably damaging	1.00
R8054:Ccdc129	UTSW	6	55976439	missense	probably damaging	0.98
R8438:Ccdc129	UTSW	6	55897893	missense	probably damaging	1.00
R8497:Ccdc129	UTSW	6	55898194	missense	probably benign	0.02
R8677:Ccdc129	UTSW	6	55872594	missense	probably benign	0.00
R9090:Ccdc129	UTSW	6	55967066	missense	probably benign	0.28
R9196:Ccdc129	UTSW	6	55975628	missense	probably damaging	1.00
R9271:Ccdc129	UTSW	6	55967066	missense	probably benign	0.28
R9344:Ccdc129	UTSW	6	55978485	missense	probably benign
R9384:Ccdc129	UTSW	6	55975628	missense	probably damaging	1.00
R9558:Ccdc129	UTSW	6	55967984	missense	possibly damaging	0.94
R9711:Ccdc129	UTSW	6	55887033	missense	probably damaging	1.00
Z1177:Ccdc129	UTSW	6	55968234	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTCAGGCCATCACATAATGAC -3'
(R):5'- GAGATATGCTCTGAGTTTTCTCTGC -3'

Sequencing Primer
(F):5'- CACATAATGACTTCATTCATGGGCC -3'
(R):5'- CTGAGTTTTCTCTGCTATAAAGGAG -3'

Posted On

2014-08-25