Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01941:Ccdc129'

181155

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ccdc129

Ensembl Gene

ENSMUSG00000037973

Gene Name

coiled-coil domain containing 129

Synonyms

D530004J12Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01941

Quality Score

Status

Chromosome

Chromosomal Location

55836895-55978735 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 55968045 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 584 (R584G)

Ref Sequence

ENSEMBL: ENSMUSP00000045332 (fasta)

Gene Model

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

AlphaFold

Q14B48

Predicted Effect

probably benign
Transcript: ENSMUST00000044729
AA Change: R584G

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

SMART Domains

Protein: ENSMUSP00000045332
Gene: ENSMUSG00000037973
AA Change: R584G

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9030624G23Rik	A	T	12: 24,044,801	L123Q	probably benign	Het
Abca2	C	T	2: 25,443,095	S1602F	probably benign	Het
Abcc9	C	A	6: 142,605,904	C1191F	probably damaging	Het
Adam3	G	T	8: 24,681,446		probably benign	Het
Aldh1l1	G	T	6: 90,562,695	G202V	probably damaging	Het
Ankrd46	T	C	15: 36,485,937	N57D	possibly damaging	Het
Asic1	A	T	15: 99,699,101	H548L	possibly damaging	Het
Atpaf2	A	G	11: 60,403,898	I233T	probably benign	Het
Ccdc185	G	T	1: 182,748,204	Q307K	probably benign	Het
Cep120	T	C	18: 53,723,148	D399G	probably benign	Het
Cnn2	G	A	10: 79,992,554	V122M	probably benign	Het
Dgkd	T	C	1: 87,924,559	S472P	probably damaging	Het
Dock5	A	C	14: 67,812,232	I701S	probably damaging	Het
Efl1	A	G	7: 82,697,976	E570G	probably benign	Het
Eln	G	A	5: 134,718,170		probably benign	Het
Fat2	A	G	11: 55,312,005	V81A	probably benign	Het
Fbxw21	T	G	9: 109,148,156	I162L	probably benign	Het
Fhl2	G	A	1: 43,131,672	Q161*	probably null	Het
Gabrg2	A	G	11: 41,971,721	Y179H	probably damaging	Het
Gm10717	C	T	9: 3,025,616	S67L	probably benign	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
Gm7714	A	G	5: 88,282,442	S66G	probably benign	Het
Grik5	A	T	7: 25,065,182	I152N	probably damaging	Het
H2-Ab1	A	T	17: 34,267,434	K156*	probably null	Het
Hecw1	T	C	13: 14,316,310	Y699C	probably benign	Het
Ipo9	A	C	1: 135,408,073	V202G	possibly damaging	Het
Jmjd6	A	T	11: 116,841,358		probably null	Het
Lama5	A	G	2: 180,192,392	I1416T	possibly damaging	Het
Matn1	T	C	4: 130,952,261		probably benign	Het
Mavs	T	C	2: 131,246,605	V443A	probably damaging	Het
Mpdz	A	T	4: 81,286,387	S1798R	possibly damaging	Het
Muc6	A	C	7: 141,638,584	S2059A	probably benign	Het
Olfr1251	A	T	2: 89,667,468	C139*	probably null	Het
Otud7b	G	T	3: 96,155,459	G672C	probably benign	Het
Palld	T	A	8: 61,535,700	T572S	probably benign	Het
Pde6b	T	A	5: 108,423,036	V379E	probably benign	Het
Peak1	A	G	9: 56,258,775	V623A	probably damaging	Het
Prr12	C	T	7: 45,048,659		probably benign	Het
Rxra	T	C	2: 27,754,241	I315T	probably damaging	Het
Slc11a1	C	T	1: 74,377,179	A55V	probably damaging	Het
Slitrk3	T	C	3: 73,051,071	N123D	possibly damaging	Het
Spcs1	A	G	14: 31,000,872	M82T	probably damaging	Het
Sspo	A	G	6: 48,495,182	E113G	probably benign	Het
Syne2	A	G	12: 75,967,220	K3062E	probably benign	Het
Traf3ip2	T	C	10: 39,634,660	S310P	probably benign	Het
Ubp1	T	C	9: 113,956,758	L167S	probably damaging	Het
Vmn1r196	T	A	13: 22,293,699	C169*	probably null	Het
Vmn1r223	T	A	13: 23,250,237	F334I	possibly damaging	Het
Vmn2r10	A	T	5: 108,995,954	I710N	probably damaging	Het
Vmn2r-ps159	C	T	4: 156,338,254		noncoding transcript	Het
Wdr26	A	G	1: 181,211,070		probably benign	Het
Wnt7a	A	G	6: 91,394,663	F106L	probably benign	Het
Zfp940	C	T	7: 29,846,870	V34M	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
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
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

Posted On

2014-05-07