Mutagenetix > Incidental Mutation

Incidental Mutation 'R8021:Ccdc30'

617350

Institutional Source

Beutler Lab

Gene Symbol

Ccdc30

Ensembl Gene

ENSMUSG00000028637

Gene Name

coiled-coil domain containing 30

Synonyms

1700041C02Rik, 1700001O02Rik, 4930445I03Rik, 1700111D19Rik

MMRRC Submission

067460-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8021 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

119179665-119272718 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 119209876 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 291 (H291R)

Ref Sequence

ENSEMBL: ENSMUSP00000047534 (fasta)

Gene Model

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

AlphaFold

Q8BVF4

Predicted Effect

probably benign
Transcript: ENSMUST00000044781
AA Change: H291R

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000047534
Gene: ENSMUSG00000028637
AA Change: H291R

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

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: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

97% (74/76)

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810010H24Rik	A	G	11: 106,916,753 (GRCm39)	I12V	unknown	Het
A630010A05Rik	C	T	16: 14,407,110 (GRCm39)	T13I		Het
Acsm5	A	G	7: 119,141,616 (GRCm39)	E537G	possibly damaging	Het
Adam25	C	A	8: 41,207,796 (GRCm39)	A354E	probably damaging	Het
Adamts3	T	C	5: 89,831,043 (GRCm39)	K1004E	possibly damaging	Het
Ap3d1	C	A	10: 80,550,135 (GRCm39)	V699L	probably benign	Het
Arel1	T	G	12: 84,981,732 (GRCm39)	H216P	possibly damaging	Het
Armc12	T	A	17: 28,749,879 (GRCm39)	F8I	probably benign	Het
Armh3	C	T	19: 45,945,180 (GRCm39)		probably null	Het
Ascc3	T	A	10: 50,607,744 (GRCm39)	M1416K	probably benign	Het
Catsperb	A	C	12: 101,554,322 (GRCm39)	N672T	probably benign	Het
Cd33	A	G	7: 43,178,262 (GRCm39)	V371A	unknown	Het
Cpt1b	A	T	15: 89,305,629 (GRCm39)	M362K	probably benign	Het
Dusp5	T	A	19: 53,517,929 (GRCm39)	S61T	probably benign	Het
Eogt	T	G	6: 97,111,291 (GRCm39)	D190A	probably damaging	Het
Fat3	T	A	9: 15,910,405 (GRCm39)	I1866F	probably damaging	Het
Fer1l4	T	A	2: 155,864,511 (GRCm39)	I1668F	probably damaging	Het
Foxn3	A	T	12: 99,355,161 (GRCm39)	M1K	probably null	Het
Frs3	T	A	17: 48,014,039 (GRCm39)	V244E	probably damaging	Het
Grik1	C	T	16: 87,711,110 (GRCm39)	V832I		Het
Gtf2ird2	T	A	5: 134,232,175 (GRCm39)	V242E	probably benign	Het
Gtpbp2	C	T	17: 46,475,195 (GRCm39)	R97C	possibly damaging	Het
Habp2	T	A	19: 56,302,485 (GRCm39)	V263E	probably benign	Het
Iars2	T	A	1: 185,054,654 (GRCm39)	I337L	probably benign	Het
Ifi204	T	C	1: 173,586,919 (GRCm39)		probably benign	Het
Itih2	T	C	2: 10,110,463 (GRCm39)	T543A	probably benign	Het
Kdm2b	A	G	5: 123,070,982 (GRCm39)	S372P	probably damaging	Het
Kit	T	A	5: 75,776,151 (GRCm39)	V311E	possibly damaging	Het
Kmt2c	C	G	5: 25,492,117 (GRCm39)	V4230L	possibly damaging	Het
Lao1	T	C	4: 118,825,674 (GRCm39)	I498T	probably damaging	Het
Lrp1	G	T	10: 127,384,215 (GRCm39)	D3641E	possibly damaging	Het
Mapk8ip1	A	T	2: 92,216,760 (GRCm39)	S477T	possibly damaging	Het
Mast3	C	T	8: 71,240,896 (GRCm39)	G218S	probably benign	Het
Mical1	T	C	10: 41,358,720 (GRCm39)	V546A	probably damaging	Het
Nck2	T	C	1: 43,593,420 (GRCm39)	V209A	probably benign	Het
Ndufs4	A	G	13: 114,444,351 (GRCm39)		probably null	Het
Nek3	C	T	8: 22,647,206 (GRCm39)	V139M	probably damaging	Het
Or10v5	T	C	19: 11,806,256 (GRCm39)	I45V	probably benign	Het
Or5ak24	A	T	2: 85,260,996 (GRCm39)	M59K	probably damaging	Het
Or7e171-ps1	A	C	9: 19,853,375 (GRCm39)	Y120*	probably null	Het
Or8b9	T	A	9: 37,766,592 (GRCm39)	H159Q	probably damaging	Het
Otog	A	T	7: 45,916,766 (GRCm39)	N901I	probably damaging	Het
Pclo	A	C	5: 14,589,798 (GRCm39)	Q699H	unknown	Het
Pcnx1	C	T	12: 81,965,593 (GRCm39)	R59*	probably null	Het
Pde12	A	T	14: 26,386,854 (GRCm39)	Y551*	probably null	Het
Pigg	A	G	5: 108,467,805 (GRCm39)	D268G	probably damaging	Het
Ppp1r21	A	G	17: 88,856,935 (GRCm39)	D130G	probably benign	Het
Psip1	T	C	4: 83,378,192 (GRCm39)	T435A	possibly damaging	Het
Rad54l2	T	C	9: 106,596,840 (GRCm39)	S189G	probably benign	Het
Rgs14	T	C	13: 55,531,569 (GRCm39)	C498R	probably damaging	Het
Ripply3	C	A	16: 94,129,369 (GRCm39)	A5E	probably benign	Het
Rps6ka4	T	C	19: 6,807,777 (GRCm39)	D676G	probably benign	Het
Rsbn1	T	C	3: 103,835,898 (GRCm39)	L312S	possibly damaging	Het
Secisbp2	T	A	13: 51,819,664 (GRCm39)	*415R	probably null	Het
Sephs1	T	A	2: 4,911,434 (GRCm39)	F336Y	probably benign	Het
Setdb2	A	T	14: 59,660,833 (GRCm39)	Y103*	probably null	Het
Slit2	T	A	5: 48,459,834 (GRCm39)	C1371*	probably null	Het
Spata31e4	A	G	13: 50,855,130 (GRCm39)	N256S	possibly damaging	Het
Stab2	C	T	10: 86,741,403 (GRCm39)	A1239T	possibly damaging	Het
Taf4b	T	A	18: 14,937,581 (GRCm39)	V218E	probably damaging	Het
Tars2	T	C	3: 95,654,826 (GRCm39)	N393S	probably benign	Het
Tbc1d30	A	G	10: 121,103,448 (GRCm39)	M528T	probably benign	Het
Tchp	A	G	5: 114,856,478 (GRCm39)	E363G	probably damaging	Het
Tec	T	A	5: 72,914,812 (GRCm39)	N568I	probably benign	Het
Ticam1	A	G	17: 56,577,089 (GRCm39)	S669P	unknown	Het
Tnk1	A	G	11: 69,745,810 (GRCm39)	S372P	probably benign	Het
Tnpo2	G	A	8: 85,781,835 (GRCm39)	A847T	probably damaging	Het
Tsc1	A	T	2: 28,576,901 (GRCm39)	I1068F	possibly damaging	Het
Ttc14	T	A	3: 33,863,270 (GRCm39)	Y559*	probably null	Het
Ttc41	C	A	10: 86,569,578 (GRCm39)	T652N	probably benign	Het
Tut1	T	A	19: 8,932,873 (GRCm39)	S69T	probably benign	Het
Uck1	T	C	2: 32,149,929 (GRCm39)	S40G	probably benign	Het
Vmn2r76	G	A	7: 85,874,958 (GRCm39)	T673I	probably damaging	Het
Vps13d	G	T	4: 144,875,245 (GRCm39)	P1760H		Het
Zbp1	T	C	2: 173,051,003 (GRCm39)	N289S	possibly damaging	Het
Zc3hav1l	C	A	6: 38,274,882 (GRCm39)		probably benign	Het
Zzef1	A	T	11: 72,714,242 (GRCm39)	D244V	probably damaging	Het

Other mutations in Ccdc30

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01014:Ccdc30	APN	4	119,250,776 (GRCm39)	missense	possibly damaging	0.93
IGL01546:Ccdc30	APN	4	119,255,385 (GRCm39)	missense	probably damaging	0.99
IGL01691:Ccdc30	APN	4	119,250,761 (GRCm39)	missense	probably damaging	0.96
IGL02178:Ccdc30	APN	4	119,206,921 (GRCm39)	unclassified	probably benign
IGL02341:Ccdc30	APN	4	119,213,978 (GRCm39)	missense	possibly damaging	0.83
IGL03063:Ccdc30	APN	4	119,206,964 (GRCm39)	missense	possibly damaging	0.68
IGL03394:Ccdc30	APN	4	119,216,779 (GRCm39)	missense	probably damaging	1.00
doubledip	UTSW	4	119,181,253 (GRCm39)	missense	probably damaging	0.99
ladle	UTSW	4	119,190,920 (GRCm39)	critical splice acceptor site	probably null
G1patch:Ccdc30	UTSW	4	119,188,796 (GRCm39)	missense	probably damaging	1.00
R1587:Ccdc30	UTSW	4	119,210,373 (GRCm39)	missense	probably damaging	1.00
R1604:Ccdc30	UTSW	4	119,188,793 (GRCm39)	missense	probably damaging	0.99
R1842:Ccdc30	UTSW	4	119,188,324 (GRCm39)	missense	probably benign
R1962:Ccdc30	UTSW	4	119,196,988 (GRCm39)	missense	probably benign	0.00
R2157:Ccdc30	UTSW	4	119,190,921 (GRCm39)	splice site	probably benign
R2314:Ccdc30	UTSW	4	119,181,763 (GRCm39)	nonsense	probably null
R2362:Ccdc30	UTSW	4	119,181,253 (GRCm39)	missense	probably damaging	0.99
R3407:Ccdc30	UTSW	4	119,181,778 (GRCm39)	missense	possibly damaging	0.63
R3755:Ccdc30	UTSW	4	119,225,005 (GRCm39)	critical splice donor site	probably null
R3938:Ccdc30	UTSW	4	119,209,870 (GRCm39)	missense	probably benign	0.02
R4762:Ccdc30	UTSW	4	119,190,785 (GRCm39)	missense	probably damaging	0.98
R5014:Ccdc30	UTSW	4	119,250,824 (GRCm39)	missense	possibly damaging	0.96
R5635:Ccdc30	UTSW	4	119,216,871 (GRCm39)	missense	possibly damaging	0.66
R6282:Ccdc30	UTSW	4	119,181,214 (GRCm39)	missense	probably damaging	0.98
R6382:Ccdc30	UTSW	4	119,261,363 (GRCm39)	missense	possibly damaging	0.93
R6725:Ccdc30	UTSW	4	119,188,796 (GRCm39)	missense	probably damaging	1.00
R6746:Ccdc30	UTSW	4	119,213,915 (GRCm39)	missense	probably benign	0.03
R7230:Ccdc30	UTSW	4	119,196,979 (GRCm39)	missense	possibly damaging	0.89
R7576:Ccdc30	UTSW	4	119,207,063 (GRCm39)	missense	probably damaging	1.00
R7673:Ccdc30	UTSW	4	119,210,369 (GRCm39)	missense	probably damaging	1.00
R7719:Ccdc30	UTSW	4	119,190,813 (GRCm39)	missense	probably damaging	1.00
R7895:Ccdc30	UTSW	4	119,209,910 (GRCm39)	splice site	probably null
R8113:Ccdc30	UTSW	4	119,230,943 (GRCm39)	missense	probably benign	0.32
R8696:Ccdc30	UTSW	4	119,234,505 (GRCm39)	missense	possibly damaging	0.92
R8713:Ccdc30	UTSW	4	119,261,404 (GRCm39)	missense	probably damaging	0.99
R8885:Ccdc30	UTSW	4	119,181,759 (GRCm39)	missense	probably damaging	0.97
R8948:Ccdc30	UTSW	4	119,181,358 (GRCm39)	missense	probably benign
R9337:Ccdc30	UTSW	4	119,190,920 (GRCm39)	critical splice acceptor site	probably null
R9354:Ccdc30	UTSW	4	119,230,850 (GRCm39)	missense	possibly damaging	0.86
R9459:Ccdc30	UTSW	4	119,234,470 (GRCm39)	missense	possibly damaging	0.66
R9563:Ccdc30	UTSW	4	119,250,821 (GRCm39)	missense	possibly damaging	0.91
R9565:Ccdc30	UTSW	4	119,250,821 (GRCm39)	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- AACAGCTGAGCCATCTCTCC -3'
(R):5'- ATCACCCGCACATTCAGGAG -3'

Sequencing Primer
(F):5'- ATGCACACTGCTATATCCACTGTAG -3'
(R):5'- ACATTCAGGAGGTGCCAGC -3'

Posted On

2020-01-23