Mutagenetix > Incidental Mutation

Incidental Mutation 'R2220:Ccdc83'

241426

Institutional Source

Beutler Lab

Gene Symbol

Ccdc83

Ensembl Gene

ENSMUSG00000030617

Gene Name

coiled-coil domain containing 83

Synonyms

4932423M01Rik, 4930549K11Rik, 4930554C01Rik

MMRRC Submission

040222-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2220 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

89873081-89914985 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 89908722 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 4 (S4L)

Ref Sequence

ENSEMBL: ENSMUSP00000102838 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040413] [ENSMUST00000107220] [ENSMUST00000107221]

AlphaFold

Q9D4V3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000040413
AA Change: S4L

PolyPhen 2 Score 0.694 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000047758
Gene: ENSMUSG00000030617
AA Change: S4L

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000107220
AA Change: S4L

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000102838
Gene: ENSMUSG00000030617
AA Change: S4L

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107221
AA Change: S4L

PolyPhen 2 Score 0.529 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000102839
Gene: ENSMUSG00000030617
AA Change: S4L

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: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	T	C	4: 144,344,572 (GRCm39)	I116T	probably damaging	Het
Aatk	G	T	11: 119,903,003 (GRCm39)	F407L	probably damaging	Het
Abca8a	A	T	11: 109,917,681 (GRCm39)	L1586Q	probably damaging	Het
Aox1	A	G	1: 58,388,289 (GRCm39)		probably null	Het
Ap5m1	A	G	14: 49,318,552 (GRCm39)	D420G	probably damaging	Het
Bcl6	A	T	16: 23,791,382 (GRCm39)	L324*	probably null	Het
Bicc1	A	G	10: 70,785,955 (GRCm39)	S396P	probably damaging	Het
Bltp1	T	C	3: 36,929,679 (GRCm39)		probably null	Het
Cdkal1	T	A	13: 29,538,741 (GRCm39)	M473L	probably benign	Het
Cep85	T	C	4: 133,881,178 (GRCm39)	H363R	probably damaging	Het
Cfap61	G	A	2: 145,878,736 (GRCm39)		probably null	Het
Cfap65	T	C	1: 74,943,184 (GRCm39)	I1614V	probably damaging	Het
Cluh	T	A	11: 74,557,947 (GRCm39)	F1062I	probably damaging	Het
Cntnap5a	A	T	1: 116,508,369 (GRCm39)	T1294S	possibly damaging	Het
Cops8	A	C	1: 90,534,341 (GRCm39)	N94T	probably benign	Het
Csmd1	T	C	8: 16,042,641 (GRCm39)	D2364G	possibly damaging	Het
Cyb5d1	T	C	11: 69,285,871 (GRCm39)	D55G	probably benign	Het
Cyp2c29	A	T	19: 39,275,676 (GRCm39)	I39F	probably benign	Het
Cyp2j8	T	C	4: 96,332,862 (GRCm39)	S495G	probably benign	Het
Dhx30	A	G	9: 109,916,703 (GRCm39)	L575P	probably damaging	Het
Dnah7a	C	T	1: 53,560,333 (GRCm39)	V2113I	probably benign	Het
Dusp3	T	C	11: 101,865,631 (GRCm39)	N95D	probably damaging	Het
Espl1	A	G	15: 102,221,424 (GRCm39)	I944V	probably damaging	Het
Fer1l4	T	G	2: 155,873,684 (GRCm39)	Y1207S	probably damaging	Het
Flg2	T	G	3: 93,109,492 (GRCm39)	S507A	unknown	Het
Gdf6	A	G	4: 9,844,770 (GRCm39)	H98R	probably damaging	Het
Ggnbp2	T	C	11: 84,727,439 (GRCm39)	N63S	possibly damaging	Het
Ggt7	A	G	2: 155,337,639 (GRCm39)	S504P	probably damaging	Het
Gtf2h5	G	A	17: 6,134,853 (GRCm39)	E48K	probably benign	Het
Hivep3	T	G	4: 119,591,235 (GRCm39)	V81G	possibly damaging	Het
Igsf21	A	G	4: 139,755,425 (GRCm39)	M410T	probably damaging	Het
Insrr	T	C	3: 87,716,725 (GRCm39)	L651P	probably damaging	Het
Iqcb1	A	T	16: 36,663,824 (GRCm39)		probably null	Het
Klhdc7a	G	A	4: 139,692,764 (GRCm39)	R728C	probably benign	Het
Lars2	T	C	9: 123,247,845 (GRCm39)	L334P	probably damaging	Het
Mast3	T	C	8: 71,233,607 (GRCm39)	E994G	probably damaging	Het
Mertk	T	A	2: 128,643,392 (GRCm39)	N930K	probably benign	Het
Mettl21a	A	T	1: 64,655,442 (GRCm39)	V46E	probably damaging	Het
Nedd4	T	A	9: 72,643,989 (GRCm39)	C614S	probably damaging	Het
Or13a19	T	C	7: 139,903,484 (GRCm39)	S291P	probably benign	Het
Or2l13b	A	T	16: 19,348,895 (GRCm39)	Y258*	probably null	Het
Or5k1	G	T	16: 58,617,987 (GRCm39)	A74D	possibly damaging	Het
Pard3b	C	T	1: 62,518,842 (GRCm39)	R976*	probably null	Het
Pcdhb16	A	G	18: 37,612,020 (GRCm39)	T327A	probably benign	Het
Pira12	A	T	7: 3,900,488 (GRCm39)	N87K	probably benign	Het
Ppp1r37	C	A	7: 19,266,371 (GRCm39)	R465L	probably null	Het
Ppp3ca	C	A	3: 136,503,685 (GRCm39)	T86K	probably damaging	Het
Ralgapa2	G	A	2: 146,263,599 (GRCm39)	T706I	probably benign	Het
Rnf213	T	C	11: 119,327,254 (GRCm39)	L1747P	possibly damaging	Het
Slc11a1	T	A	1: 74,419,824 (GRCm39)	F166I	probably damaging	Het
Slc25a18	G	A	6: 120,770,518 (GRCm39)		probably null	Het
Stt3a	A	G	9: 36,660,847 (GRCm39)		probably null	Het
Supt16	G	A	14: 52,409,601 (GRCm39)	R770*	probably null	Het
Syde2	A	G	3: 145,707,713 (GRCm39)	I551V	probably benign	Het
Tasor2	A	T	13: 3,631,872 (GRCm39)	N876K	probably benign	Het
Tecta	T	C	9: 42,303,326 (GRCm39)	D102G	probably damaging	Het
Tmc7	A	T	7: 118,152,039 (GRCm39)	I294N	possibly damaging	Het
Tmem174	T	C	13: 98,773,767 (GRCm39)	Y21C	probably damaging	Het
Tomm40l	A	T	1: 171,049,550 (GRCm39)	L13*	probably null	Het
Trim30c	A	G	7: 104,032,474 (GRCm39)	V284A	probably benign	Het
Ttc23l	G	A	15: 10,537,652 (GRCm39)	S206L	probably benign	Het
Uggt2	A	T	14: 119,312,749 (GRCm39)	N353K	probably damaging	Het
Vps13d	C	T	4: 144,904,890 (GRCm39)	V79M	probably damaging	Het
Wfdc18	C	T	11: 83,600,739 (GRCm39)	R45*	probably null	Het

Other mutations in Ccdc83

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00595:Ccdc83	APN	7	89,893,252 (GRCm39)	missense	probably damaging	1.00
IGL01092:Ccdc83	APN	7	89,896,313 (GRCm39)	missense	probably benign	0.11
IGL01394:Ccdc83	APN	7	89,873,209 (GRCm39)	missense	probably damaging	1.00
IGL02585:Ccdc83	APN	7	89,886,120 (GRCm39)	missense	probably damaging	1.00
IGL02631:Ccdc83	APN	7	89,893,277 (GRCm39)	missense	possibly damaging	0.76
G1patch:Ccdc83	UTSW	7	89,896,261 (GRCm39)	missense	probably damaging	1.00
PIT4354001:Ccdc83	UTSW	7	89,873,182 (GRCm39)	missense	probably benign	0.21
R0189:Ccdc83	UTSW	7	89,875,891 (GRCm39)	missense	possibly damaging	0.94
R0538:Ccdc83	UTSW	7	89,877,591 (GRCm39)	missense	probably damaging	0.99
R1441:Ccdc83	UTSW	7	89,893,351 (GRCm39)	missense	probably damaging	1.00
R1478:Ccdc83	UTSW	7	89,908,677 (GRCm39)	missense	probably damaging	0.99
R1781:Ccdc83	UTSW	7	89,899,749 (GRCm39)	missense	probably damaging	1.00
R1929:Ccdc83	UTSW	7	89,873,285 (GRCm39)	missense	probably damaging	1.00
R1969:Ccdc83	UTSW	7	89,893,362 (GRCm39)	missense	probably damaging	1.00
R1970:Ccdc83	UTSW	7	89,893,362 (GRCm39)	missense	probably damaging	1.00
R1971:Ccdc83	UTSW	7	89,893,362 (GRCm39)	missense	probably damaging	1.00
R2008:Ccdc83	UTSW	7	89,893,349 (GRCm39)	missense	probably damaging	1.00
R2271:Ccdc83	UTSW	7	89,873,285 (GRCm39)	missense	probably damaging	1.00
R2426:Ccdc83	UTSW	7	89,877,639 (GRCm39)	missense	probably damaging	1.00
R2985:Ccdc83	UTSW	7	89,885,575 (GRCm39)	intron	probably benign
R3712:Ccdc83	UTSW	7	89,885,563 (GRCm39)	intron	probably benign
R4241:Ccdc83	UTSW	7	89,896,346 (GRCm39)	missense	probably damaging	1.00
R4260:Ccdc83	UTSW	7	89,877,599 (GRCm39)	missense	possibly damaging	0.86
R4374:Ccdc83	UTSW	7	89,875,986 (GRCm39)	nonsense	probably null
R5071:Ccdc83	UTSW	7	89,899,737 (GRCm39)	missense	probably damaging	0.99
R5072:Ccdc83	UTSW	7	89,899,737 (GRCm39)	missense	probably damaging	0.99
R5074:Ccdc83	UTSW	7	89,899,737 (GRCm39)	missense	probably damaging	0.99
R5749:Ccdc83	UTSW	7	89,873,156 (GRCm39)	missense	probably damaging	1.00
R5929:Ccdc83	UTSW	7	89,885,524 (GRCm39)	intron	probably benign
R6283:Ccdc83	UTSW	7	89,885,615 (GRCm39)	nonsense	probably null
R6574:Ccdc83	UTSW	7	89,875,885 (GRCm39)	missense	possibly damaging	0.69
R6725:Ccdc83	UTSW	7	89,896,261 (GRCm39)	missense	probably damaging	1.00
R7320:Ccdc83	UTSW	7	89,873,242 (GRCm39)	missense	probably damaging	1.00
R7485:Ccdc83	UTSW	7	89,873,138 (GRCm39)	missense	probably benign	0.17
R7511:Ccdc83	UTSW	7	89,886,130 (GRCm39)	missense	possibly damaging	0.69
R7750:Ccdc83	UTSW	7	89,873,190 (GRCm39)	nonsense	probably null
R7773:Ccdc83	UTSW	7	89,879,120 (GRCm39)	missense	probably damaging	1.00
R7915:Ccdc83	UTSW	7	89,893,290 (GRCm39)	nonsense	probably null
R8184:Ccdc83	UTSW	7	89,873,286 (GRCm39)	nonsense	probably null
R8416:Ccdc83	UTSW	7	89,885,513 (GRCm39)	missense	unknown
R9182:Ccdc83	UTSW	7	89,886,102 (GRCm39)	missense	probably damaging	1.00
X0067:Ccdc83	UTSW	7	89,896,363 (GRCm39)	missense	possibly damaging	0.94
Z1088:Ccdc83	UTSW	7	89,893,254 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTGGCAGTGCTTAGCTACATCAC -3'
(R):5'- ATGCTCTATCTGGGCTAAGCAC -3'

Sequencing Primer
(F):5'- AGTGCTTAGCTACATCACTCCAG -3'
(R):5'- GAATCCATCCGTTTAATGGTGC -3'

Posted On

2014-10-15