Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00087:Ccdc129'

1580

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 #

IGL00087

Quality Score

Status

Chromosome

Chromosomal Location

55836895-55978735 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 55968037 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 581 (L581Q)

Ref Sequence

ENSEMBL: ENSMUSP00000045332 (fasta)

Gene Model

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

AlphaFold

Q14B48

Predicted Effect

possibly damaging
Transcript: ENSMUST00000044729
AA Change: L581Q

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000045332
Gene: ENSMUSG00000037973
AA Change: L581Q

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432M17Rik	C	A	3: 121,679,633 (GRCm38)		probably benign	Het
4930572O03Rik	C	A	5: 15,656,886 (GRCm38)		probably benign	Het
Actr2	C	A	11: 20,094,370 (GRCm38)	V79L	probably benign	Het
Ankrd36	A	C	11: 5,620,131 (GRCm38)	Y533S	probably benign	Het
Btnl1	A	T	17: 34,381,117 (GRCm38)	D198V	probably damaging	Het
Carmil2	T	A	8: 105,691,406 (GRCm38)	I684N	probably benign	Het
Cdk17	T	A	10: 93,226,771 (GRCm38)	V257D	probably damaging	Het
Ctsj	T	G	13: 61,001,418 (GRCm38)	S271R	possibly damaging	Het
Cul9	T	A	17: 46,525,709 (GRCm38)	Q1130L	probably damaging	Het
Daam1	G	T	12: 71,942,219 (GRCm38)	S131I	unknown	Het
Dab1	G	A	4: 104,678,810 (GRCm38)	V139M	probably damaging	Het
Dab1	A	T	4: 104,678,753 (GRCm38)	I120F	possibly damaging	Het
Dnah2	A	G	11: 69,492,672 (GRCm38)	V1142A	possibly damaging	Het
Dsg1b	C	T	18: 20,396,476 (GRCm38)	T326I	probably damaging	Het
Eif3k	A	C	7: 28,974,676 (GRCm38)		probably benign	Het
Fam76b	T	C	9: 13,836,884 (GRCm38)	V3A	possibly damaging	Het
Fitm2	A	G	2: 163,469,792 (GRCm38)	V167A	probably benign	Het
Gfap	T	A	11: 102,888,718 (GRCm38)	I418F	possibly damaging	Het
Gm8857	C	T	5: 10,947,838 (GRCm38)		probably benign	Het
Grm5	T	C	7: 88,130,781 (GRCm38)	V1143A	probably benign	Het
Itpr2	A	G	6: 146,397,012 (GRCm38)	I317T	probably damaging	Het
Kcnn2	A	C	18: 45,592,236 (GRCm38)	R266S	probably damaging	Het
Kntc1	T	A	5: 123,790,159 (GRCm38)	S1240T	probably benign	Het
Lmnb2	T	C	10: 80,904,037 (GRCm38)	D490G	possibly damaging	Het
Muc4	G	A	16: 32,754,086 (GRCm38)	G1321R	probably benign	Het
Olfr401	A	T	11: 74,121,879 (GRCm38)	I197F	probably benign	Het
Pax9	A	G	12: 56,700,075 (GRCm38)	N232S	probably benign	Het
Pdcd6ip	A	G	9: 113,697,518 (GRCm38)	S108P	possibly damaging	Het
Pitpnc1	T	C	11: 107,212,643 (GRCm38)	E210G	possibly damaging	Het
Prdm10	T	C	9: 31,360,812 (GRCm38)		probably benign	Het
Prl4a1	G	A	13: 28,021,460 (GRCm38)	G136E	probably damaging	Het
Pstpip2	A	G	18: 77,874,294 (GRCm38)	S255G	probably benign	Het
Rimbp3	T	G	16: 17,209,743 (GRCm38)	S344A	probably benign	Het
Rint1	A	G	5: 23,794,431 (GRCm38)	T73A	probably benign	Het
Rnf145	T	C	11: 44,555,212 (GRCm38)	V291A	possibly damaging	Het
Rrm1	T	A	7: 102,454,507 (GRCm38)	L221*	probably null	Het
Scn11a	A	G	9: 119,770,506 (GRCm38)	L1114P	probably benign	Het
Slc44a4	A	G	17: 34,930,240 (GRCm38)		probably benign	Het
Sorl1	A	C	9: 41,974,094 (GRCm38)	N2070K	probably damaging	Het
Spaca7	C	T	8: 12,580,941 (GRCm38)		probably benign	Het
Srsf6	G	T	2: 162,931,707 (GRCm38)	V13F	probably damaging	Het
Stab1	G	T	14: 31,161,357 (GRCm38)	T336N	probably benign	Het
Strbp	A	G	2: 37,586,504 (GRCm38)		probably benign	Het
Tbc1d4	A	G	14: 101,608,112 (GRCm38)	F117L	probably damaging	Het
Tcf20	A	G	15: 82,854,895 (GRCm38)	V785A	probably damaging	Het
Ticrr	A	G	7: 79,677,283 (GRCm38)	K580E	probably damaging	Het
Ubr4	A	T	4: 139,465,322 (GRCm38)	E4225D	possibly damaging	Het
Uck1	A	T	2: 32,259,669 (GRCm38)	V66D	probably damaging	Het
Vmn2r25	A	G	6: 123,853,171 (GRCm38)	F7S	probably benign	Het
Zan	C	T	5: 137,387,820 (GRCm38)		probably null	Het
Zfp819	T	A	7: 43,611,979 (GRCm38)		probably benign	Het

Other mutations in Ccdc129

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R5819:Ccdc129	UTSW	6	55,897,891 (GRCm38)	missense	probably benign	0.18
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

Posted On

2011-07-12