Mutagenetix > Incidental Mutation

Incidental Mutation 'R5819:Ccdc129'

449219

Institutional Source

Beutler Lab

Gene Symbol

Ccdc129

Ensembl Gene

ENSMUSG00000037973

Gene Name

coiled-coil domain containing 129

Synonyms

D530004J12Rik

MMRRC Submission

043399-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5819 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

55836895-55978735 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 55897891 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 275 (K275N)

Ref Sequence

ENSEMBL: ENSMUSP00000045332 (fasta)

Gene Model

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

AlphaFold

Q14B48

Predicted Effect

probably benign
Transcript: ENSMUST00000044729
AA Change: K275N

PolyPhen 2 Score 0.183 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000045332
Gene: ENSMUSG00000037973
AA Change: K275N

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: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	A	T	3: 37,048,600 (GRCm38)	M4863L	probably benign	Het
Abca4	A	T	3: 122,136,981 (GRCm38)	I1376F	probably damaging	Het
Aggf1	T	C	13: 95,351,621 (GRCm38)	N673D	possibly damaging	Het
Avil	T	C	10: 127,009,998 (GRCm38)	F372S	probably damaging	Het
Bod1l	T	A	5: 41,832,605 (GRCm38)	E258D	probably benign	Het
Chek1	T	A	9: 36,710,405 (GRCm38)	H420L	probably benign	Het
Cyfip1	A	G	7: 55,879,151 (GRCm38)	I260M	probably damaging	Het
Dclk1	G	A	3: 55,489,864 (GRCm38)	V524I	probably damaging	Het
Efr3b	T	C	12: 3,992,965 (GRCm38)	M102V	probably benign	Het
Erc2	T	A	14: 28,141,369 (GRCm38)	I517N	probably damaging	Het
Fubp1	T	C	3: 152,220,553 (GRCm38)	I305T	probably damaging	Het
Galc	T	A	12: 98,216,261 (GRCm38)	D443V	probably benign	Het
Galnt4	T	A	10: 99,110,030 (GRCm38)	I539N	probably damaging	Het
Gm17093	G	T	14: 44,521,529 (GRCm38)	M169I	unknown	Het
Gm4858	A	G	3: 93,073,732 (GRCm38)	Y19C	probably damaging	Het
Htra1	T	C	7: 130,981,739 (GRCm38)	F363S	probably damaging	Het
Klhdc8b	G	A	9: 108,451,062 (GRCm38)	P64S	probably benign	Het
Kmt2c	A	G	5: 25,409,132 (GRCm38)		probably null	Het
Mettl21c	T	G	1: 44,009,722 (GRCm38)	K222Q	probably damaging	Het
Mga	A	C	2: 119,941,263 (GRCm38)	M1535L	possibly damaging	Het
Mov10	C	T	3: 104,801,512 (GRCm38)	G395D	probably damaging	Het
Ms4a10	C	A	19: 10,968,690 (GRCm38)	A26S	probably benign	Het
Naaladl1	A	G	19: 6,109,654 (GRCm38)	N372D	possibly damaging	Het
Olfr1275	A	T	2: 111,230,959 (GRCm38)	I278N	probably damaging	Het
Optc	T	C	1: 133,897,879 (GRCm38)	D303G	probably damaging	Het
Osmr	C	A	15: 6,815,787 (GRCm38)	V833L	probably benign	Het
Phf14	A	G	6: 11,997,252 (GRCm38)		probably null	Het
Pjvk	A	G	2: 76,658,369 (GRCm38)	I295V	probably benign	Het
Plppr4	T	A	3: 117,325,864 (GRCm38)	I299L	possibly damaging	Het
Prkg1	A	G	19: 31,585,672 (GRCm38)	S110P	probably benign	Het
Ptprq	T	A	10: 107,719,883 (GRCm38)		probably benign	Het
Rarb	T	G	14: 16,443,820 (GRCm38)	N156T	possibly damaging	Het
Rgl3	A	T	9: 21,981,602 (GRCm38)		probably null	Het
Ruvbl1	A	C	6: 88,483,115 (GRCm38)		probably null	Het
S1pr1	G	T	3: 115,712,140 (GRCm38)	C268*	probably null	Het
Sbk3	T	C	7: 4,969,997 (GRCm38)	D58G	probably benign	Het
Scgb2b3	T	A	7: 31,360,214 (GRCm38)	H45L	possibly damaging	Het
Smim8	TTTAATGAAGAGCT	TT	4: 34,771,261 (GRCm38)		probably benign	Het
Soga3	A	T	10: 29,197,273 (GRCm38)	M854L	probably benign	Het
Tas2r119	T	C	15: 32,177,306 (GRCm38)	L6P	probably damaging	Het
Tcp11	A	T	17: 28,069,236 (GRCm38)	F339L	probably damaging	Het
Tmprss5	T	A	9: 49,114,479 (GRCm38)		probably null	Het
Trnau1ap	A	G	4: 132,325,210 (GRCm38)		probably benign	Het
Trp53bp1	G	A	2: 121,208,392 (GRCm38)	R1397*	probably null	Het
Ubqln3	G	A	7: 104,141,467 (GRCm38)	P472L	probably benign	Het
Vmn2r13	T	A	5: 109,174,100 (GRCm38)	M244L	possibly damaging	Het
Zfp777	C	T	6: 48,037,588 (GRCm38)	E395K	probably damaging	Het
Zfyve27	A	G	19: 42,183,496 (GRCm38)	S156G	probably benign	Het

Other mutations in Ccdc129

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00087:Ccdc129	APN	6	55,968,037 (GRCm38)	missense	possibly damaging	0.90
IGL01317:Ccdc129	APN	6	55,967,805 (GRCm38)	missense	possibly damaging	0.77
IGL01390:Ccdc129	APN	6	55,897,998 (GRCm38)	missense	probably benign	0.41
IGL01696:Ccdc129	APN	6	55,897,695 (GRCm38)	missense	probably benign	0.40
IGL01941:Ccdc129	APN	6	55,968,045 (GRCm38)	missense	probably benign
IGL01967:Ccdc129	APN	6	55,897,911 (GRCm38)	missense	probably damaging	0.99
IGL02071:Ccdc129	APN	6	55,967,725 (GRCm38)	nonsense	probably null
IGL02232:Ccdc129	APN	6	55,967,937 (GRCm38)	missense	unknown
IGL02268:Ccdc129	APN	6	55,884,688 (GRCm38)	splice site	probably benign
IGL02440:Ccdc129	APN	6	55,884,728 (GRCm38)	missense	possibly damaging	0.95
IGL02614:Ccdc129	APN	6	55,968,277 (GRCm38)	missense	probably damaging	0.99
IGL02626:Ccdc129	APN	6	55,968,646 (GRCm38)	missense	probably benign	0.03
IGL02674:Ccdc129	APN	6	55,897,928 (GRCm38)	missense	probably benign	0.04
IGL02836:Ccdc129	APN	6	55,898,090 (GRCm38)	missense	probably damaging	1.00
IGL02884:Ccdc129	APN	6	55,874,354 (GRCm38)	splice site	probably null
IGL02889:Ccdc129	APN	6	55,901,458 (GRCm38)	missense	possibly damaging	0.46
IGL03103:Ccdc129	APN	6	55,968,159 (GRCm38)	missense	possibly damaging	0.59
IGL03117:Ccdc129	APN	6	55,898,129 (GRCm38)	missense	probably benign	0.25
IGL03343:Ccdc129	APN	6	55,968,584 (GRCm38)	missense	probably damaging	1.00
BB006:Ccdc129	UTSW	6	55,897,961 (GRCm38)	missense	probably damaging	1.00
BB016:Ccdc129	UTSW	6	55,897,961 (GRCm38)	missense	probably damaging	1.00
PIT4418001:Ccdc129	UTSW	6	55,968,345 (GRCm38)	missense	probably damaging	1.00
R0054:Ccdc129	UTSW	6	55,872,472 (GRCm38)	utr 5 prime	probably benign
R0200:Ccdc129	UTSW	6	55,897,956 (GRCm38)	missense	probably benign	0.10
R0245:Ccdc129	UTSW	6	55,898,007 (GRCm38)	missense	probably damaging	1.00
R0320:Ccdc129	UTSW	6	55,976,447 (GRCm38)	missense	probably damaging	1.00
R0326:Ccdc129	UTSW	6	55,898,243 (GRCm38)	missense	possibly damaging	0.61
R0357:Ccdc129	UTSW	6	55,968,034 (GRCm38)	missense	probably benign	0.13
R1109:Ccdc129	UTSW	6	55,968,260 (GRCm38)	missense	probably damaging	1.00
R1118:Ccdc129	UTSW	6	55,889,170 (GRCm38)	missense	probably damaging	1.00
R1119:Ccdc129	UTSW	6	55,889,170 (GRCm38)	missense	probably damaging	1.00
R1462:Ccdc129	UTSW	6	55,975,664 (GRCm38)	missense	probably damaging	1.00
R1462:Ccdc129	UTSW	6	55,975,664 (GRCm38)	missense	probably damaging	1.00
R1588:Ccdc129	UTSW	6	55,978,503 (GRCm38)	missense	possibly damaging	0.72
R1678:Ccdc129	UTSW	6	55,968,514 (GRCm38)	missense	probably benign	0.35
R1680:Ccdc129	UTSW	6	55,968,766 (GRCm38)	missense	probably damaging	1.00
R1728:Ccdc129	UTSW	6	55,968,541 (GRCm38)	missense	probably benign	0.01
R1729:Ccdc129	UTSW	6	55,968,541 (GRCm38)	missense	probably benign	0.01
R1737:Ccdc129	UTSW	6	55,968,304 (GRCm38)	missense	probably damaging	1.00
R1771:Ccdc129	UTSW	6	55,898,147 (GRCm38)	missense	probably benign	0.40
R1784:Ccdc129	UTSW	6	55,968,541 (GRCm38)	missense	probably benign	0.01
R1936:Ccdc129	UTSW	6	55,897,681 (GRCm38)	missense	probably damaging	1.00
R1995:Ccdc129	UTSW	6	55,968,709 (GRCm38)	missense	probably benign	0.03
R2037:Ccdc129	UTSW	6	55,897,875 (GRCm38)	missense	probably benign	0.00
R2137:Ccdc129	UTSW	6	55,889,189 (GRCm38)	missense	probably damaging	1.00
R2190:Ccdc129	UTSW	6	55,897,700 (GRCm38)	missense	possibly damaging	0.87
R2191:Ccdc129	UTSW	6	55,967,719 (GRCm38)	missense	probably benign	0.06
R2234:Ccdc129	UTSW	6	55,897,812 (GRCm38)	missense	possibly damaging	0.67
R2235:Ccdc129	UTSW	6	55,897,812 (GRCm38)	missense	possibly damaging	0.67
R3793:Ccdc129	UTSW	6	55,975,603 (GRCm38)	missense	possibly damaging	0.80
R3923:Ccdc129	UTSW	6	55,968,060 (GRCm38)	missense	probably benign	0.19
R3959:Ccdc129	UTSW	6	55,897,740 (GRCm38)	missense	probably benign
R4332:Ccdc129	UTSW	6	55,968,235 (GRCm38)	missense	possibly damaging	0.95
R4485:Ccdc129	UTSW	6	55,887,066 (GRCm38)	missense	probably benign	0.00
R4688:Ccdc129	UTSW	6	55,967,147 (GRCm38)	splice site	probably null
R4916:Ccdc129	UTSW	6	55,978,190 (GRCm38)	missense	possibly damaging	0.77
R5201:Ccdc129	UTSW	6	55,968,006 (GRCm38)	missense	probably benign	0.03
R5383:Ccdc129	UTSW	6	55,978,290 (GRCm38)	missense	probably benign	0.38
R5450:Ccdc129	UTSW	6	55,968,811 (GRCm38)	critical splice donor site	probably null
R5542:Ccdc129	UTSW	6	55,978,395 (GRCm38)	missense	probably damaging	0.99
R5935:Ccdc129	UTSW	6	55,897,769 (GRCm38)	nonsense	probably null
R6034:Ccdc129	UTSW	6	55,967,681 (GRCm38)	missense	possibly damaging	0.94
R6034:Ccdc129	UTSW	6	55,967,681 (GRCm38)	missense	possibly damaging	0.94
R6209:Ccdc129	UTSW	6	55,874,321 (GRCm38)	missense	probably damaging	1.00
R6246:Ccdc129	UTSW	6	55,967,672 (GRCm38)	missense	probably damaging	1.00
R6463:Ccdc129	UTSW	6	55,968,678 (GRCm38)	missense	probably benign	0.17
R6490:Ccdc129	UTSW	6	55,976,420 (GRCm38)	missense	probably damaging	1.00
R6948:Ccdc129	UTSW	6	55,978,485 (GRCm38)	missense	probably benign
R7148:Ccdc129	UTSW	6	55,897,686 (GRCm38)	missense	probably damaging	1.00
R7382:Ccdc129	UTSW	6	55,978,419 (GRCm38)	missense	probably benign	0.02
R7403:Ccdc129	UTSW	6	55,976,414 (GRCm38)	nonsense	probably null
R7846:Ccdc129	UTSW	6	55,978,335 (GRCm38)	missense	possibly damaging	0.89
R7929:Ccdc129	UTSW	6	55,897,961 (GRCm38)	missense	probably damaging	1.00
R8054:Ccdc129	UTSW	6	55,976,439 (GRCm38)	missense	probably damaging	0.98
R8438:Ccdc129	UTSW	6	55,897,893 (GRCm38)	missense	probably damaging	1.00
R8497:Ccdc129	UTSW	6	55,898,194 (GRCm38)	missense	probably benign	0.02
R8677:Ccdc129	UTSW	6	55,872,594 (GRCm38)	missense	probably benign	0.00
R9090:Ccdc129	UTSW	6	55,967,066 (GRCm38)	missense	probably benign	0.28
R9196:Ccdc129	UTSW	6	55,975,628 (GRCm38)	missense	probably damaging	1.00
R9271:Ccdc129	UTSW	6	55,967,066 (GRCm38)	missense	probably benign	0.28
R9344:Ccdc129	UTSW	6	55,978,485 (GRCm38)	missense	probably benign
R9384:Ccdc129	UTSW	6	55,975,628 (GRCm38)	missense	probably damaging	1.00
R9558:Ccdc129	UTSW	6	55,967,984 (GRCm38)	missense	possibly damaging	0.94
R9711:Ccdc129	UTSW	6	55,887,033 (GRCm38)	missense	probably damaging	1.00
Z1177:Ccdc129	UTSW	6	55,968,234 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCTGGATCATGTGACCAATGCC -3'
(R):5'- CTTGTCCAGAAGAGCATGCG -3'

Sequencing Primer
(F):5'- GGATCATGTGACCAATGCCTTCTC -3'
(R):5'- CCAGAAGAGCATGCGGAGGAG -3'

Posted On

2016-12-20