Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4354001:Ccdc83'

554820

Institutional Source

Beutler Lab

Gene Symbol

Ccdc83

Ensembl Gene

ENSMUSG00000030617

Gene Name

coiled-coil domain containing 83

Synonyms

4930549K11Rik, 4930554C01Rik, 4932423M01Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

PIT4354001 (G1)

Quality Score

153.008

Status

Not validated

Chromosome

Chromosomal Location

90223873-90265777 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 90223974 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 391 (M391K)

Ref Sequence

ENSEMBL: ENSMUSP00000102839 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000107221]

AlphaFold

Q9D4V3

Predicted Effect

probably benign
Transcript: ENSMUST00000107221
AA Change: M391K

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000102839
Gene: ENSMUSG00000030617
AA Change: M391K

Domain	Start	End	E-Value	Type
coiled coil region	37	75	N/A	INTRINSIC
low complexity region	93	106	N/A	INTRINSIC
coiled coil region	107	182	N/A	INTRINSIC
Blast:BROMO	202	232	1e-5	BLAST
low complexity region	241	249	N/A	INTRINSIC

Coding Region Coverage

1x: 92.5%
3x: 90.1%
10x: 83.2%
20x: 69.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arap2	A	T	5: 62,654,049	Y1140N	probably damaging	Het
Cntnap1	A	T	11: 101,181,297	I459F	probably damaging	Het
Cr2	T	A	1: 195,166,309	Y302F	probably damaging	Het
Ctu2	A	T	8: 122,478,975	D179V	probably damaging	Het
Cubn	G	A	2: 13,468,852	Q427*	probably null	Het
Depdc7	A	G	2: 104,728,188	S163P	probably benign	Het
Eif2s3y	C	T	Y: 1,020,126	R385C	probably benign	Het
Gigyf1	A	G	5: 137,524,104	K728R	unknown	Het
Gm1587	G	A	14: 77,797,033	R32*	probably null	Het
Gm17689	T	A	9: 36,581,301	S103C	possibly damaging	Het
Hfe2	T	C	3: 96,528,445	C340R	probably damaging	Het
Isy1	A	G	6: 87,833,671	I53T	possibly damaging	Het
Myh8	A	T	11: 67,289,630	N564I	probably benign	Het
Neb	A	T	2: 52,245,318	I3260N	probably damaging	Het
Npc1	C	T	18: 12,211,535	G426E	probably benign	Het
Nrd1	G	A	4: 109,054,025		probably null	Het
Olfr1221	C	A	2: 89,112,486	E9*	probably null	Het
Olfr1257	T	A	2: 89,881,508	S227R	probably benign	Het
Olfr56	G	A	11: 49,134,305	V38M	probably damaging	Het
Prss51	T	A	14: 64,097,097	V91D	probably damaging	Het
Qpct	A	C	17: 79,081,759	Y280S	probably benign	Het
Rbpms	A	G	8: 33,806,838	V137A	possibly damaging	Het
Rgl2	T	A	17: 33,933,940	M441K	possibly damaging	Het
Sdhaf3	A	T	6: 6,956,072	I16F	possibly damaging	Het
Slc38a3	T	G	9: 107,657,649	N176H	probably benign	Het
Sos1	T	C	17: 80,449,356	S256G	possibly damaging	Het
Spg11	A	T	2: 122,088,185	C988S	probably damaging	Het
Sync	A	T	4: 129,306,654	Q451L	possibly damaging	Het
Tbc1d31	A	G	15: 57,967,933	Y929C	probably benign	Het
Thbs2	G	A	17: 14,689,968	T123I	probably damaging	Het
Thsd7a	A	C	6: 12,331,927		probably null	Het
Tnfrsf11a	T	C	1: 105,821,517	L220P	probably damaging	Het
Trbv13-2	G	A	6: 41,121,818	C109Y	probably damaging	Het
Ugt3a1	G	A	15: 9,306,360	W198*	probably null	Het
Usp14	G	A	18: 9,996,189	R464W	probably damaging	Het
Vmn1r2	C	T	4: 3,172,162	S27L	probably benign	Het
Vmn1r68	T	A	7: 10,528,031	N47Y	probably benign	Het
Zfc3h1	T	A	10: 115,427,039	Y1719*	probably null	Het

Other mutations in Ccdc83

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00595:Ccdc83	APN	7	90244044	missense	probably damaging	1.00
IGL01092:Ccdc83	APN	7	90247105	missense	probably benign	0.11
IGL01394:Ccdc83	APN	7	90224001	missense	probably damaging	1.00
IGL02585:Ccdc83	APN	7	90236912	missense	probably damaging	1.00
IGL02631:Ccdc83	APN	7	90244069	missense	possibly damaging	0.76
G1patch:Ccdc83	UTSW	7	90247053	missense	probably damaging	1.00
R0189:Ccdc83	UTSW	7	90226683	missense	possibly damaging	0.94
R0538:Ccdc83	UTSW	7	90228383	missense	probably damaging	0.99
R1441:Ccdc83	UTSW	7	90244143	missense	probably damaging	1.00
R1478:Ccdc83	UTSW	7	90259469	missense	probably damaging	0.99
R1781:Ccdc83	UTSW	7	90250541	missense	probably damaging	1.00
R1929:Ccdc83	UTSW	7	90224077	missense	probably damaging	1.00
R1969:Ccdc83	UTSW	7	90244154	missense	probably damaging	1.00
R1970:Ccdc83	UTSW	7	90244154	missense	probably damaging	1.00
R1971:Ccdc83	UTSW	7	90244154	missense	probably damaging	1.00
R2008:Ccdc83	UTSW	7	90244141	missense	probably damaging	1.00
R2220:Ccdc83	UTSW	7	90259514	missense	probably damaging	0.96
R2271:Ccdc83	UTSW	7	90224077	missense	probably damaging	1.00
R2426:Ccdc83	UTSW	7	90228431	missense	probably damaging	1.00
R2985:Ccdc83	UTSW	7	90236367	intron	probably benign
R3712:Ccdc83	UTSW	7	90236355	intron	probably benign
R4241:Ccdc83	UTSW	7	90247138	missense	probably damaging	1.00
R4260:Ccdc83	UTSW	7	90228391	missense	possibly damaging	0.86
R4374:Ccdc83	UTSW	7	90226778	nonsense	probably null
R5071:Ccdc83	UTSW	7	90250529	missense	probably damaging	0.99
R5072:Ccdc83	UTSW	7	90250529	missense	probably damaging	0.99
R5074:Ccdc83	UTSW	7	90250529	missense	probably damaging	0.99
R5749:Ccdc83	UTSW	7	90223948	missense	probably damaging	1.00
R5929:Ccdc83	UTSW	7	90236316	intron	probably benign
R6283:Ccdc83	UTSW	7	90236407	nonsense	probably null
R6574:Ccdc83	UTSW	7	90226677	missense	possibly damaging	0.69
R6725:Ccdc83	UTSW	7	90247053	missense	probably damaging	1.00
R7320:Ccdc83	UTSW	7	90224034	missense	probably damaging	1.00
R7485:Ccdc83	UTSW	7	90223930	missense	probably benign	0.17
R7511:Ccdc83	UTSW	7	90236922	missense	possibly damaging	0.69
R7750:Ccdc83	UTSW	7	90223982	nonsense	probably null
R7773:Ccdc83	UTSW	7	90229912	missense	probably damaging	1.00
R7915:Ccdc83	UTSW	7	90244082	nonsense	probably null
R8184:Ccdc83	UTSW	7	90224078	nonsense	probably null
R8416:Ccdc83	UTSW	7	90236305	missense	unknown
R9182:Ccdc83	UTSW	7	90236894	missense	probably damaging	1.00
X0067:Ccdc83	UTSW	7	90247155	missense	possibly damaging	0.94
Z1088:Ccdc83	UTSW	7	90244046	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTTTCTGTCACTCATGATGGGC -3'
(R):5'- GAGCATCTCATTTGTCACACAC -3'

Sequencing Primer
(F):5'- CACTCATGATGGGCAGGTATATC -3'
(R):5'- TTTGTCACACACACTTGCCAACG -3'

Posted On

2019-06-07