Mutagenetix > Incidental Mutation

Incidental Mutation 'R2362:Ccdc30'

247171

Institutional Source

Beutler Lab

Gene Symbol

Ccdc30

Ensembl Gene

ENSMUSG00000028637

Gene Name

coiled-coil domain containing 30

Synonyms

4930445I03Rik, 1700041C02Rik, 1700001O02Rik, 1700111D19Rik

MMRRC Submission

040343-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2362 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

119322893-119415521 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 119324056 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 636 (N636I)

Ref Sequence

ENSEMBL: ENSMUSP00000070621 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056458] [ENSMUST00000063642] [ENSMUST00000106317] [ENSMUST00000106318] [ENSMUST00000106319] [ENSMUST00000106321] [ENSMUST00000147077]

AlphaFold

Q8BVF4

Predicted Effect

probably benign
Transcript: ENSMUST00000056458

SMART Domains

Protein: ENSMUSP00000051221
Gene: ENSMUSG00000060288

Domain	Start	End	E-Value	Type
Pfam:Pro_isomerase	14	176	5.8e-49	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000063642
AA Change: N636I

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000070621
Gene: ENSMUSG00000028637
AA Change: N636I

Domain	Start	End	E-Value	Type
Pfam:DUF4686	170	547	5.1e-155	PFAM
low complexity region	555	568	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106317

SMART Domains

Protein: ENSMUSP00000101924
Gene: ENSMUSG00000060288

Domain	Start	End	E-Value	Type
Pfam:Pro_isomerase	14	170	2.4e-46	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106318

SMART Domains

Protein: ENSMUSP00000101925
Gene: ENSMUSG00000060288

Domain	Start	End	E-Value	Type
Pfam:Pro_isomerase	14	176	5.8e-49	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106319

SMART Domains

Protein: ENSMUSP00000101926
Gene: ENSMUSG00000060288

Domain	Start	End	E-Value	Type
Pfam:Pro_isomerase	14	132	8.3e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106321

SMART Domains

Protein: ENSMUSP00000101928
Gene: ENSMUSG00000060288

Domain	Start	End	E-Value	Type
Pfam:Pro_isomerase	14	176	5.8e-49	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000147077

SMART Domains

Protein: ENSMUSP00000118407
Gene: ENSMUSG00000060288

Domain	Start	End	E-Value	Type
Pfam:Pro_isomerase	2	157	2.9e-48	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154606

Meta Mutation Damage Score

0.2333

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 94.9%

Validation Efficiency

100% (35/35)

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630073D07Rik	A	T	6: 132,627,479	M1K	probably null	Het
Aadat	A	G	8: 60,532,298		probably benign	Het
Acsm5	T	C	7: 119,528,426		probably benign	Het
Avl9	A	T	6: 56,736,570	N271I	probably benign	Het
Cdr2	T	G	7: 120,970,331	I62L	possibly damaging	Het
Clk3	T	C	9: 57,754,619	I382V	possibly damaging	Het
Ctsr	T	A	13: 61,162,796	E45V	probably damaging	Het
Cyp2b19	A	G	7: 26,764,377	Y318C	probably damaging	Het
Dab1	C	T	4: 104,731,751	A524V	probably benign	Het
Dapk1	A	G	13: 60,730,931	N578S	probably damaging	Het
Dlg5	A	T	14: 24,158,687	M817K	probably benign	Het
Dtx4	A	G	19: 12,492,535	V76A	probably damaging	Het
Eps15	T	C	4: 109,361,230	V430A	probably benign	Het
Fam160b2	A	G	14: 70,586,365	Y568H	probably benign	Het
Fxyd5	T	C	7: 31,036,471	N104S	probably benign	Het
Gm5155	T	G	7: 17,902,473		noncoding transcript	Het
Ift122	A	G	6: 115,884,350	D193G	probably damaging	Het
Lrrcc1	A	G	3: 14,563,024	E542G	probably damaging	Het
Macc1	T	C	12: 119,447,658		probably benign	Het
Ndst3	T	A	3: 123,552,678	Y234F	possibly damaging	Het
Olfr1477	A	T	19: 13,502,508	H55L	probably damaging	Het
Pes1	T	C	11: 3,977,123	F429S	probably damaging	Het
Polr3e	C	G	7: 120,942,564	D623E	probably damaging	Het
Rapgef6	T	C	11: 54,694,272	Y1494H	probably damaging	Het
Rbm14	T	C	19: 4,801,707		probably benign	Het
Rnf103	A	G	6: 71,510,017	D544G	probably benign	Het
Slc10a7	A	G	8: 78,509,632	I20V	probably damaging	Het
Sort1	C	T	3: 108,346,665	T549I	possibly damaging	Het
Stambpl1	G	A	19: 34,236,354	V328I	probably benign	Het
Thbd	A	G	2: 148,406,364	L528P	probably damaging	Het
Wbp11	A	T	6: 136,824,332	M63K	probably damaging	Het
Wdr11	T	A	7: 129,634,836	I1178N	probably benign	Het

Other mutations in Ccdc30

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01014:Ccdc30	APN	4	119393579	missense	possibly damaging	0.93
IGL01546:Ccdc30	APN	4	119398188	missense	probably damaging	0.99
IGL01691:Ccdc30	APN	4	119393564	missense	probably damaging	0.96
IGL02178:Ccdc30	APN	4	119349724	unclassified	probably benign
IGL02341:Ccdc30	APN	4	119356781	missense	possibly damaging	0.83
IGL03063:Ccdc30	APN	4	119349767	missense	possibly damaging	0.68
IGL03394:Ccdc30	APN	4	119359582	missense	probably damaging	1.00
doubledip	UTSW	4	119324056	missense	probably damaging	0.99
ladle	UTSW	4	119333723	critical splice acceptor site	probably null
G1patch:Ccdc30	UTSW	4	119331599	missense	probably damaging	1.00
R1587:Ccdc30	UTSW	4	119353176	missense	probably damaging	1.00
R1604:Ccdc30	UTSW	4	119331596	missense	probably damaging	0.99
R1842:Ccdc30	UTSW	4	119331127	missense	probably benign
R1962:Ccdc30	UTSW	4	119339791	missense	probably benign	0.00
R2157:Ccdc30	UTSW	4	119333724	splice site	probably benign
R2314:Ccdc30	UTSW	4	119324566	nonsense	probably null
R3407:Ccdc30	UTSW	4	119324581	missense	possibly damaging	0.63
R3755:Ccdc30	UTSW	4	119367808	critical splice donor site	probably null
R3938:Ccdc30	UTSW	4	119352673	missense	probably benign	0.02
R4762:Ccdc30	UTSW	4	119333588	missense	probably damaging	0.98
R5014:Ccdc30	UTSW	4	119393627	missense	possibly damaging	0.96
R5635:Ccdc30	UTSW	4	119359674	missense	possibly damaging	0.66
R6282:Ccdc30	UTSW	4	119324017	missense	probably damaging	0.98
R6382:Ccdc30	UTSW	4	119404166	missense	possibly damaging	0.93
R6725:Ccdc30	UTSW	4	119331599	missense	probably damaging	1.00
R6746:Ccdc30	UTSW	4	119356718	missense	probably benign	0.03
R7230:Ccdc30	UTSW	4	119339782	missense	possibly damaging	0.89
R7576:Ccdc30	UTSW	4	119349866	missense	probably damaging	1.00
R7673:Ccdc30	UTSW	4	119353172	missense	probably damaging	1.00
R7719:Ccdc30	UTSW	4	119333616	missense	probably damaging	1.00
R7895:Ccdc30	UTSW	4	119352713	splice site	probably null
R8021:Ccdc30	UTSW	4	119352679	missense	probably benign	0.00
R8113:Ccdc30	UTSW	4	119373746	missense	probably benign	0.32
R8696:Ccdc30	UTSW	4	119377308	missense	possibly damaging	0.92
R8713:Ccdc30	UTSW	4	119404207	missense	probably damaging	0.99
R8885:Ccdc30	UTSW	4	119324562	missense	probably damaging	0.97
R8948:Ccdc30	UTSW	4	119324161	missense	probably benign
R9337:Ccdc30	UTSW	4	119333723	critical splice acceptor site	probably null
R9354:Ccdc30	UTSW	4	119373653	missense	possibly damaging	0.86
R9459:Ccdc30	UTSW	4	119377273	missense	possibly damaging	0.66
R9563:Ccdc30	UTSW	4	119393624	missense	possibly damaging	0.91
R9565:Ccdc30	UTSW	4	119393624	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- AAGCGATTTTGAGGAATCCTTGTTG -3'
(R):5'- AATGCCATAGACTCGTAGCC -3'

Sequencing Primer
(F):5'- AGGAATCCTTGTTGATGTCCAG -3'
(R):5'- CCTAAGCTTCTACCAGGAAGTTG -3'

Posted On

2014-10-30