Mutagenetix > Incidental Mutation

Incidental Mutation 'R1680:Ccdc129'

188408

Institutional Source

Beutler Lab

Gene Symbol

Ccdc129

Ensembl Gene

ENSMUSG00000037973

Gene Name

coiled-coil domain containing 129

Synonyms

D530004J12Rik

MMRRC Submission

039716-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1680 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

55836895-55978735 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 55968766 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 824 (T824I)

Ref Sequence

ENSEMBL: ENSMUSP00000045332 (fasta)

Gene Model

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

AlphaFold

Q14B48

Predicted Effect

probably damaging
Transcript: ENSMUST00000044729
AA Change: T824I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000045332
Gene: ENSMUSG00000037973
AA Change: T824I

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: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	C	G	10: 100,603,528	P187R	probably damaging	Het
Ahnak	T	A	19: 9,009,963	H2870Q	probably benign	Het
Arhgef33	C	T	17: 80,347,651	S95F	probably damaging	Het
Atp1a2	T	A	1: 172,278,954	D827V	probably damaging	Het
Bcat1	T	G	6: 145,039,628	D96A	probably damaging	Het
Birc6	A	T	17: 74,548,746	I184L	probably benign	Het
Clca3b	A	T	3: 144,837,824	L415M	probably damaging	Het
Clstn1	T	C	4: 149,643,726	V617A	probably benign	Het
Col22a1	G	A	15: 71,799,361	A1050V	unknown	Het
Col5a3	C	T	9: 20,784,668		probably null	Het
Csmd3	G	A	15: 47,741,170	T1059I	probably damaging	Het
Dclk2	C	T	3: 86,805,639	R503Q	possibly damaging	Het
Dnm3	A	G	1: 162,010,976	V272A	probably benign	Het
Dnmt3a	A	G	12: 3,873,361	Q187R	probably damaging	Het
Dpp9	A	G	17: 56,190,103	Y710H	probably benign	Het
Eef1a2	A	T	2: 181,152,941	M155K	possibly damaging	Het
Entpd8	G	A	2: 25,084,024	C331Y	probably damaging	Het
Erc1	A	C	6: 119,575,761	L1072R	probably damaging	Het
Fam160b2	T	C	14: 70,586,851	Y482C	probably damaging	Het
Gtf3c2	A	G	5: 31,173,868	S155P	probably damaging	Het
Gucy2c	A	G	6: 136,722,493	S617P	probably damaging	Het
Ice1	T	C	13: 70,605,448	R840G	probably benign	Het
Il1rl2	T	C	1: 40,351,793	Y299H	possibly damaging	Het
Ints7	T	G	1: 191,621,162		probably null	Het
Ireb2	C	T	9: 54,881,518	T92I	probably damaging	Het
Kcnj8	A	T	6: 142,570,189	L64*	probably null	Het
Mapk8ip3	A	G	17: 24,901,011	V983A	probably damaging	Het
Mertk	A	G	2: 128,801,636	D985G	probably benign	Het
Mical3	A	T	6: 120,959,643	S1307R	probably benign	Het
Ncaph2	A	G	15: 89,364,622	D222G	probably benign	Het
Nf1	C	A	11: 79,550,998	S295*	probably null	Het
Nlrp12	T	A	7: 3,241,174	D236V	probably damaging	Het
Npnt	A	G	3: 132,906,802	V74A	probably benign	Het
Oasl1	A	G	5: 114,935,944	D304G	probably damaging	Het
Olfr1098	C	T	2: 86,923,161	V124I	probably benign	Het
Olfr556	A	G	7: 102,670,733	D271G	possibly damaging	Het
Olfr834	A	G	9: 18,988,516	H176R	possibly damaging	Het
Olfr936	T	C	9: 39,047,000	I140V	probably benign	Het
Patz1	A	G	11: 3,307,812	K604E	probably damaging	Het
Pcsk6	T	A	7: 66,035,250	V793E	probably benign	Het
Pla2g4d	C	T	2: 120,277,750		probably null	Het
Plxnc1	A	C	10: 94,841,551	L938R	probably benign	Het
Pou4f2	G	T	8: 78,434,831	A381D	probably damaging	Het
Prdm4	A	G	10: 85,899,223	L685P	possibly damaging	Het
Pxn	T	A	5: 115,552,147	V383E	probably damaging	Het
Rbl1	A	G	2: 157,174,783	L632P	probably damaging	Het
Rnf135	T	A	11: 80,196,881	S219T	possibly damaging	Het
Sdk2	T	C	11: 113,791,436	D2039G	possibly damaging	Het
Sdk2	C	T	11: 113,838,646		silent	Het
Slc5a6	A	G	5: 31,042,644	Y131H	probably damaging	Het
Slc9a1	T	C	4: 133,418,080	I492T	probably damaging	Het
Soga3	A	T	10: 29,196,839	Q709L	probably damaging	Het
Spag5	A	G	11: 78,320,616	K993E	probably damaging	Het
Sptbn1	T	G	11: 30,159,371	I75L	possibly damaging	Het
Syngap1	T	C	17: 26,952,579	S46P	possibly damaging	Het
Tfcp2l1	T	A	1: 118,675,605	F458I	probably damaging	Het
Tmem67	A	G	4: 12,087,840	V102A	probably benign	Het
Tomm70a	T	C	16: 57,121,961	S34P	unknown	Het
Txlnb	G	T	10: 17,843,233	G604V	probably benign	Het
Ube2q1	A	G	3: 89,776,176	T143A	probably benign	Het
Unc80	C	T	1: 66,503,669	R361*	probably null	Het
Vcan	T	C	13: 89,703,547	D1098G	probably benign	Het
Vmn1r176	T	A	7: 23,835,381	T116S	probably damaging	Het
Wdr81	C	T	11: 75,454,423	R6K	probably benign	Het
Zan	T	A	5: 137,403,050	T4136S	unknown	Het
Zbtb14	C	A	17: 69,388,502	F398L	probably damaging	Het
Zfp606	A	T	7: 12,493,971	H615L	probably damaging	Het
Zp3r	A	T	1: 130,582,880	N433K	probably benign	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
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
R1995:Ccdc129	UTSW	6	55968709	missense	probably benign	0.03
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'- CCGCAACAGGCTTCTGCCAC -3'
(R):5'- TGACTGCCCTAGAGACTCTAAATAGCTC -3'

Sequencing Primer
(F):5'- GGCTTCTGCCACACCATAC -3'
(R):5'- TCTCACTTATACTGACTTGGAGATG -3'

Posted On

2014-05-09