Mutagenetix > Incidental Mutation

Incidental Mutation 'R9459:Ccdc30'

714749

Institutional Source

Beutler Lab

Gene Symbol

Ccdc30

Ensembl Gene

ENSMUSG00000028637

Gene Name

coiled-coil domain containing 30

Synonyms

4930445I03Rik, 1700041C02Rik, 1700001O02Rik, 1700111D19Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9459 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

119322893-119415521 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 119377273 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 81 (R81G)

Ref Sequence

ENSEMBL: ENSMUSP00000081332 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044781] [ENSMUST00000063642] [ENSMUST00000084307] [ENSMUST00000143494]

AlphaFold

Q8BVF4

Predicted Effect

probably benign
Transcript: ENSMUST00000044781

SMART Domains

Protein: ENSMUSP00000047534
Gene: ENSMUSG00000028637

Domain	Start	End	E-Value	Type
low complexity region	85	99	N/A	INTRINSIC
Pfam:DUF4686	103	286	1.5e-78	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000063642

SMART Domains

Protein: ENSMUSP00000070621
Gene: ENSMUSG00000028637

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000084307
AA Change: R81G

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000081332
Gene: ENSMUSG00000028637
AA Change: R81G

Domain	Start	End	E-Value	Type
coiled coil region	16	43	N/A	INTRINSIC
coiled coil region	85	115	N/A	INTRINSIC
low complexity region	209	223	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000143494

SMART Domains

Protein: ENSMUSP00000118202
Gene: ENSMUSG00000028637

Domain	Start	End	E-Value	Type
Pfam:DUF4686	31	169	3.1e-63	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020D05Rik	T	A	19: 5,503,729	H8L	probably benign	Het
Abcb1a	T	A	5: 8,685,414		probably null	Het
Alms1	T	A	6: 85,627,964	C2199S	probably damaging	Het
Aox3	A	G	1: 58,150,309	I390V	probably benign	Het
Ap3b2	T	C	7: 81,473,903	N400S	probably benign	Het
Baalc	A	T	15: 38,934,024	N70I	probably benign	Het
Brca2	T	A	5: 150,540,629	V1286D	probably damaging	Het
Cd209g	T	C	8: 4,135,610	S15P	probably benign	Het
Chrnb3	G	A	8: 27,393,856	W207*	probably null	Het
Cmpk2	C	T	12: 26,478,023	T413M	probably damaging	Het
Coq4	T	A	2: 29,788,550	Y63N	probably damaging	Het
Depdc5	T	A	5: 32,990,773	S1478T	probably damaging	Het
Etf1	A	G	18: 34,906,081	F378L	probably benign	Het
Exoc6	T	C	19: 37,585,893	V324A	probably benign	Het
Frem2	A	G	3: 53,653,486	L1200P	probably benign	Het
Gadl1	T	C	9: 115,965,611	W285R	probably damaging	Het
Gbp3	A	G	3: 142,564,946		probably null	Het
Gm14295	C	T	2: 176,807,372	T5I	possibly damaging	Het
Hps4	T	C	5: 112,375,009	S578P	probably benign	Het
Kctd13	T	A	7: 126,945,082	D317E	probably damaging	Het
Kdm4b	T	A	17: 56,399,509	D881E	probably benign	Het
Klf10	G	A	15: 38,295,927	P473L	probably damaging	Het
Lrch3	A	T	16: 32,979,405	D371V	probably damaging	Het
Msh2	T	C	17: 87,678,330	S112P	possibly damaging	Het
Msh3	A	G	13: 92,215,539	V1036A	possibly damaging	Het
Mybl1	A	G	1: 9,676,259	V392A	possibly damaging	Het
Myo7a	T	C	7: 98,073,173	I1182V	possibly damaging	Het
Nectin1	A	C	9: 43,803,793	E442A	probably benign	Het
Obsl1	G	T	1: 75,498,240	H839N	probably benign	Het
Olfr1202	T	C	2: 88,817,623	F151L	probably benign	Het
Olfr1505	T	C	19: 13,919,310	C97R	possibly damaging	Het
Pacs1	C	T	19: 5,145,070		probably null	Het
Pcdh17	G	T	14: 84,448,623	E843D	probably benign	Het
Pcnt	A	G	10: 76,392,738	L1531P	probably damaging	Het
Pdgfra	A	G	5: 75,192,468	D973G	probably damaging	Het
Pkd2	A	G	5: 104,466,934	Y214C	probably damaging	Het
Plcb1	T	C	2: 135,322,638	Y427H	probably benign	Het
Ppm1h	A	G	10: 122,907,577	N402S	possibly damaging	Het
Rassf4	T	A	6: 116,641,788		probably null	Het
Ryr1	G	A	7: 29,068,643	T2856I	probably damaging	Het
Serpinb8	A	T	1: 107,605,790	K192*	probably null	Het
Slfn14	T	G	11: 83,279,372	Q482P	possibly damaging	Het
Spata2	A	G	2: 167,485,285	V64A	probably benign	Het
Tax1bp1	T	G	6: 52,729,329	V105G	probably damaging	Het
Tbc1d22a	T	G	15: 86,235,820	S142A	possibly damaging	Het
Tdrd9	T	C	12: 112,025,573	F594S	probably damaging	Het
Uba3	T	C	6: 97,189,598	I281V	probably benign	Het
Uggt2	T	C	14: 119,049,183	E723G	probably benign	Het
Usp20	C	T	2: 31,011,012	S391F	probably damaging	Het
Usp24	T	A	4: 106,342,358	D166E	probably damaging	Het
Vmn1r1	A	G	1: 182,157,938	V54A	probably benign	Het
Zfp442	T	A	2: 150,408,748	E411D	unknown	Het
Zfp804a	T	C	2: 82,259,409	I1194T	probably damaging	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
R2362:Ccdc30	UTSW	4	119324056	missense	probably damaging	0.99
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
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'- AACCGCGTTATACGTCACTTC -3'
(R):5'- TTGTTAGGACCATTTCAAGAACCC -3'

Sequencing Primer
(F):5'- GCGTTATACGTCACTTCATTGTATG -3'
(R):5'- TTGGCTCAGTGGTTAAGAACACC -3'

Posted On

2022-06-15