Mutagenetix > Incidental Mutation

Incidental Mutation 'R7148:Ccdc129'

553938

Institutional Source

Beutler Lab

Gene Symbol

Ccdc129

Ensembl Gene

ENSMUSG00000037973

Gene Name

coiled-coil domain containing 129

Synonyms

D530004J12Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7148 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

55836895-55978735 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 55897686 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 207 (I207T)

Ref Sequence

ENSEMBL: ENSMUSP00000045332 (fasta)

Gene Model

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

AlphaFold

Q14B48

Predicted Effect

probably damaging
Transcript: ENSMUST00000044729
AA Change: I207T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000045332
Gene: ENSMUSG00000037973
AA Change: I207T

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700024G13Rik	T	A	14: 32,388,312	Y14F	probably damaging	Het
2410131K14Rik	A	G	5: 118,255,694	N46D	probably benign	Het
4930563D23Rik	T	C	16: 92,320,987	K138E	probably benign	Het
Acly	A	G	11: 100,483,782	V805A	possibly damaging	Het
AF366264	T	A	8: 13,837,996	I32L	probably benign	Het
Apcdd1	T	C	18: 62,951,845	V371A	probably damaging	Het
Cacna1g	A	T	11: 94,465,930	F127I	probably benign	Het
Ccdc138	T	C	10: 58,538,280	L374P	probably damaging	Het
Ces2b	A	G	8: 104,838,296	Y504C	probably damaging	Het
Ces5a	C	T	8: 93,502,322	G427S	probably damaging	Het
Chd1l	C	T	3: 97,591,316	V256M	probably damaging	Het
Col24a1	C	T	3: 145,315,299	T477M	probably damaging	Het
Dmbt1	T	A	7: 131,066,734	C573*	probably null	Het
Emcn	A	T	3: 137,417,094	Y188F	possibly damaging	Het
Eva1a	T	G	6: 82,071,144	M1R	probably null	Het
Fam83h	C	A	15: 76,005,167	D194Y	probably damaging	Het
Flywch1	T	C	17: 23,755,675	K664E	probably benign	Het
Fzd9	A	G	5: 135,249,690	V447A	probably benign	Het
Gm21964	G	T	8: 110,109,416	R119I	probably benign	Het
Heatr5b	T	C	17: 78,831,434	D93G	probably damaging	Het
Hmcn1	T	C	1: 150,686,854	I2318V	probably benign	Het
Hyal5	T	A	6: 24,876,902	L258Q	probably damaging	Het
Kmo	T	A	1: 175,651,602	C235S	probably damaging	Het
Lamc2	G	A	1: 153,185,984	P2S	probably benign	Het
Lman2	G	A	13: 55,352,949	P146S	probably benign	Het
Mars2	T	C	1: 55,237,514	I92T	probably damaging	Het
Msh3	A	G	13: 92,354,822	F27L	probably benign	Het
Myom2	T	C	8: 15,084,577	V460A	possibly damaging	Het
Nicn1	T	A	9: 108,295,107	*214R	probably null	Het
Nsd2	T	C	5: 33,885,511	F1040L	possibly damaging	Het
Olfr374	T	A	8: 72,110,157	I197N	possibly damaging	Het
Osm	T	A	11: 4,239,936	I240N	probably benign	Het
Pard3b	T	A	1: 62,440,032	D884E	probably benign	Het
Pex5	T	G	6: 124,405,272	D150A	probably benign	Het
Pfkfb4	T	C	9: 109,027,608	V394A	probably damaging	Het
Pjvk	A	G	2: 76,658,487	K334R	possibly damaging	Het
Pkd1l2	T	C	8: 117,080,786	D171G	probably benign	Het
Prpf4b	T	G	13: 34,894,472	N688K	probably benign	Het
R3hcc1	T	C	14: 69,705,552	E192G	possibly damaging	Het
Rad54l2	C	A	9: 106,719,119	G207*	probably null	Het
Rhobtb3	G	T	13: 75,910,887	T264K	probably benign	Het
Rpl27	A	G	11: 101,442,406		probably benign	Het
Rxfp3	C	T	15: 11,036,777	V170I	possibly damaging	Het
Samd4	T	A	14: 47,016,683	S201R	probably benign	Het
Sell	A	G	1: 164,065,607	I131V	possibly damaging	Het
Sirpb1c	A	T	3: 15,833,059	Y205*	probably null	Het
Smc3	A	T	19: 53,641,895	E1111V	possibly damaging	Het
Sowaha	C	A	11: 53,479,355	V185L	probably benign	Het
Spata4	A	C	8: 54,602,550	I159L	probably benign	Het
Tekt2	A	G	4: 126,322,381	I373T	probably benign	Het
Tomm20l	T	C	12: 71,117,539	V65A	probably benign	Het
Trabd2b	A	G	4: 114,409,350	D187G	probably damaging	Het
Trrap	A	G	5: 144,821,803	I2147V	possibly damaging	Het
Tsc22d2	T	A	3: 58,417,008	C440*	probably null	Het
Ube3b	A	C	5: 114,406,252	N570T	probably damaging	Het
Uevld	A	G	7: 46,950,976	I70T	probably damaging	Het
Usp10	C	T	8: 119,936,550	T37I	possibly damaging	Het
Vmn2r23	T	A	6: 123,713,022	F286I	probably benign	Het
Vmn2r62	A	G	7: 42,765,216	V601A	probably benign	Het
Wdr81	G	C	11: 75,446,002	N401K		Het
Ythdc2	G	T	18: 44,833,122	V142F	probably benign	Het
Zfp346	T	C	13: 55,105,450	F36S	possibly damaging	Het
Zfp748	C	T	13: 67,542,239	V301M	possibly damaging	Het
Zim1	T	C	7: 6,678,221	K148E	possibly 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
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
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'- CAGCCTTCATCAACTTGGAAAAG -3'
(R):5'- GCTCGTCTGTCTTGAAGCTC -3'

Sequencing Primer
(F):5'- GTGTACATTCCACACACGTG -3'
(R):5'- GAAGCTCTTTTTAAAAGTTGGCTC -3'

Posted On

2019-05-15